#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
ABLIM1	3983	broad.mit.edu	37	10	116335268	116335268	+	Missense_Mutation	SNP	C	C	T	rs202220476		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:116335268C>T	ENST00000277895.5	-	3	567	c.470G>A	c.(469-471)cGc>cAc	p.R157H	ABLIM1_ENST00000533213.2_Missense_Mutation_p.R97H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R97H	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	157	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R97H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCCATGGCAGCGTGTCCCGTA	0.547																																					p.R157H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470A	10						.						149.0	118.0	129.0					10																	116335268		2203	4300	6503	116325258	SO:0001583	missense	3983	exon3			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.470G>A	10.37:g.116335268C>T	ENSP00000277895:p.Arg157His		116325258	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368822	0.95900	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	D;D;D	0.88046	-2.33;-2.33;-2.33	5.55	5.55	0.83447	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	M	0.76938	2.355	0.80722	D	1	D;D;D;D;B;D	0.89917	0.998;0.984;0.999;0.996;0.062;1.0	P;P;P;P;B;D	0.71184	0.731;0.879;0.891;0.558;0.034;0.972	D	0.93956	0.7236	10	0.87932	D	0	.	19.4973	0.95079	0.0:1.0:0.0:0.0	.	81;97;97;157;97;81	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4	.;.;.;ABLM1_HUMAN;.;.	H	157;97;97;97;157;81;81;81;157	ENSP00000358256:R97H;ENSP00000433629:R97H;ENSP00000277895:R157H	ENSP00000277895:R157H	R	-	2	0	ABLIM1	116325258	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.818000	0.86416	2.608000	0.88229	0.655000	0.94253	CGC		0.547	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
SEC23IP	11196	broad.mit.edu	37	10	121677366	121677366	+	Silent	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:121677366T>G	ENST00000369075.3	+	9	1635	c.1563T>G	c.(1561-1563)acT>acG	p.T521T	SEC23IP_ENST00000543134.1_Silent_p.T310T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	521					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T521T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGAAAATCACTTTGCCAAGTA	0.303																																					p.T521T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1563G	10						.						40.0	42.0	41.0					10																	121677366		2203	4300	6503	121667356	SO:0001819	synonymous_variant	11196	exon9			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1563T>G	10.37:g.121677366T>G			121667356	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	CCDS7618.1																																																																																				0.303	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
UCMA	221044	broad.mit.edu	37	10	13264117	13264117	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:13264117G>A	ENST00000378681.3	-	5	475	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	UCMA_ENST00000463405.2_Missense_Mutation_p.R113C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	135					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)		p.R135C(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GTGTGGTGGCGGTTGTAGAGA	0.582																																					p.R135C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403T	10						.						127.0	113.0	118.0					10																	13264117		2203	4300	6503	13304123	SO:0001583	missense	221044	exon5			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.403C>T	10.37:g.13264117G>A	ENSP00000367952:p.Arg135Cys		13304123	NM_145314		Missense_Mutation	SNP	ENST00000378681.3	37	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229250	0.58777	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.78155	0.4239	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80743	-0.1246	9	0.87932	D	0	-5.7598	15.5703	0.76330	0.0:0.0:1.0:0.0	.	135	Q8WVF2	UCMA_HUMAN	C	135	.	ENSP00000367952:R135C	R	-	1	0	UCMA	13304123	1.000000	0.71417	0.998000	0.56505	0.151000	0.21798	3.222000	0.51223	2.412000	0.81896	0.448000	0.29417	CGC		0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314	
MKI67	4288	broad.mit.edu	37	10	129913495	129913495	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:129913495T>C	ENST00000368654.3	-	7	1552	c.1177A>G	c.(1177-1179)Agg>Ggg	p.R393G	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	393					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R393G(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAAAGCTTCCTGGGAGTAAGA	0.408																																					p.R393G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1177G	10						.						105.0	108.0	107.0					10																	129913495		2203	4300	6503	129803485	SO:0001583	missense	4288	exon7			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1177A>G	10.37:g.129913495T>C	ENSP00000357643:p.Arg393Gly		129803485	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050153	0.36181	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01414	4.92	4.0	-6.04	0.02178	.	0.636933	0.14589	N	0.310365	T	0.00784	0.0026	N	0.11560	0.145	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.44283	-0.9338	10	0.87932	D	0	.	6.0447	0.19753	0.0:0.3229:0.4117:0.2653	.	393	P46013	KI67_HUMAN	G	393	ENSP00000357643:R393G	ENSP00000357643:R393G	R	-	1	2	MKI67	129803485	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.993000	0.01475	-1.350000	0.02199	0.533000	0.62120	AGG		0.408	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
UCN3	114131	broad.mit.edu	37	10	5415789	5415789	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:5415789C>T	ENST00000380433.3	+	2	334	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	36					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)		p.L36F(1)		endometrium(1)|large_intestine(1)	2						CTTCAGCTGCCTCAACACCGC	0.627																																					p.L36F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C106T	10						.						45.0	46.0	46.0					10																	5415789		2203	4300	6503	5405789	SO:0001583	missense	114131	exon2			AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.106C>T	10.37:g.5415789C>T	ENSP00000369798:p.Leu36Phe		5405789	NM_053049	Q496H2|Q5SR91	Missense_Mutation	SNP	ENST00000380433.3	37	CCDS7065.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959683	0.34565	.	.	ENSG00000178473	ENST00000380433	T	0.34275	1.37	5.95	2.67	0.31697	.	0.354467	0.25416	N	0.030833	T	0.36248	0.0960	L	0.59436	1.845	0.30177	N	0.800783	P	0.45902	0.868	B	0.43052	0.406	T	0.33240	-0.9876	10	0.45353	T	0.12	-11.2282	11.6458	0.51261	0.235:0.6819:0.083:0.0	.	36	Q969E3	UCN3_HUMAN	F	36	ENSP00000369798:L36F	ENSP00000369798:L36F	L	+	1	0	UCN3	5405789	0.996000	0.38824	0.999000	0.59377	0.181000	0.23173	0.927000	0.28818	0.278000	0.22164	0.491000	0.48974	CTC		0.627	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049	
SFMBT2	57713	broad.mit.edu	37	10	7409783	7409783	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:7409783C>T	ENST00000361972.4	-	4	354	c.264G>A	c.(262-264)ccG>ccA	p.P88P	SFMBT2_ENST00000397167.1_Silent_p.P88P|SFMBT2_ENST00000397160.3_Silent_p.P88P|SFMBT2_ENST00000379711.2_Silent_p.P88P|SFMBT2_ENST00000379713.3_Silent_p.P88P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	88					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.P88P(3)		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						AGTACGTGTCCGGGTTGTTCT	0.517																																					p.P88P												.	.	3	Substitution - coding silent(3)	large_intestine(2)|lung(1)	c.G264A	10						.						82.0	80.0	80.0					10																	7409783		2203	4300	6503	7449789	SO:0001819	synonymous_variant	57713	exon4			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.264G>A	10.37:g.7409783C>T			7449789	NM_001029880	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.517	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
ITIH5	80760	broad.mit.edu	37	10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	rs112992012	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:7618934C>T	ENST00000256861.6	-	10	1538	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R487H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATAATCGATGCGGATGTCAGA	0.592																																					p.R487H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1460A	10						.	C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	71.0	69.0	69.0		1460,1460,818	2.7	0.5	10	dbSNP_132	69	0,8600		0,0,4300	yes	missense,missense,missense	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	487/703,487/943,273/729	7618934	4,13002	2203	4300	6503	7658940	SO:0001583	missense	80760	exon10					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1460G>A	10.37:g.7618934C>T	ENSP00000256861:p.Arg487His		7658940	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	10.20	1.285262	0.23478	9.08E-4	0.0	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.57	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	.	.	.	0.42656	D	0.993461	B;B;B	0.32604	0.008;0.377;0.224	B;B;B	0.27796	0.027;0.038;0.083	T	0.11743	-1.0575	9	0.62326	D	0.03	-23.5834	10.6681	0.45743	0.0:0.7919:0.0:0.2081	.	487;487;273	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	487;487;273;269;487	ENSP00000256861:R487H;ENSP00000380333:R487H;ENSP00000298441:R273H;ENSP00000387969:R269H;ENSP00000380332:R487H	ENSP00000256861:R487H	R	-	2	0	ITIH5	7658940	0.992000	0.36948	0.466000	0.27168	0.079000	0.17450	2.988000	0.49386	0.304000	0.22809	-0.448000	0.05591	CGC		0.592	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
FAM171A1	221061	broad.mit.edu	37	10	15256375	15256375	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:15256375C>T	ENST00000378116.4	-	8	1218	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	404						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P404P(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTTCGCCGCCCGGAGACATCA	0.627																																					p.P404P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1212A	10						.						57.0	61.0	59.0					10																	15256375		2203	4300	6503	15296381	SO:0001819	synonymous_variant	221061	exon8			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1212G>A	10.37:g.15256375C>T			15296381	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	CCDS31154.1																																																																																				0.627	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
PTER	9317	broad.mit.edu	37	10	16526736	16526736	+	Missense_Mutation	SNP	G	G	A	rs370657038		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:16526736G>A	ENST00000378000.1	+	3	599	c.353G>A	c.(352-354)gGc>gAc	p.G118D	PTER_ENST00000298942.3_Missense_Mutation_p.G118D|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000535784.2_Missense_Mutation_p.G118D|PTER_ENST00000423462.2_Missense_Mutation_p.G118D	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	118					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.G118D(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GAAGAGACTGGCGTCCATATC	0.483																																					p.G118D	Ovarian(2;46 150 15648 38137 47908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353A	10						.	G	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	62.0	62.0	62.0		353,353	5.6	0.1	10		62	0,8600		0,0,4300	no	missense,missense	PTER	NM_030664.3,NM_001001484.1	94,94	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	118/350,118/350	16526736	1,13005	2203	4300	6503	16566742	SO:0001583	missense	9317	exon3			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.353G>A	10.37:g.16526736G>A	ENSP00000367239:p.Gly118Asp		16566742	NM_001001484	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901923	0.72754	2.27E-4	0.0	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.58	5.58	0.84498	.	0.136856	0.64402	D	0.000003	T	0.61451	0.2348	M	0.73372	2.23	0.80722	D	1	B;B	0.29909	0.054;0.261	B;B	0.43867	0.206;0.434	T	0.57625	-0.7779	10	0.34782	T	0.22	-5.351	19.5703	0.95409	0.0:0.0:1.0:0.0	.	118;118	Q96BW5-2;Q96BW5	.;PTER_HUMAN	D	118	ENSP00000439485:G118D;ENSP00000389535:G118D;ENSP00000367239:G118D;ENSP00000298942:G118D	ENSP00000298942:G118D	G	+	2	0	PTER	16566742	1.000000	0.71417	0.073000	0.20177	0.969000	0.65631	9.869000	0.99810	2.617000	0.88574	0.655000	0.94253	GGC		0.483	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664	
ARHGAP21	57584	broad.mit.edu	37	10	24880210	24880210	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:24880210A>G	ENST00000396432.2	-	24	4580	c.4094T>C	c.(4093-4095)aTa>aCa	p.I1365T	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.I1152T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1364					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.I1364T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TAAATGATCTATGTTTGGCAC	0.448																																					p.I1365T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4094C	10						.						177.0	173.0	174.0					10																	24880210		2203	4297	6500	24920216	SO:0001583	missense	57584	exon24			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4094T>C	10.37:g.24880210A>G	ENSP00000379709:p.Ile1365Thr		24920216	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694864	0.68386	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481	T;T	0.13657	2.57;2.7	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31447	-0.9943	10	0.87932	D	0	.	16.1339	0.81465	1.0:0.0:0.0:0.0	.	1364	Q5T5U3	RHG21_HUMAN	T	1365;814;1152	ENSP00000379709:I1365T;ENSP00000365604:I1152T	ENSP00000365604:I1152T	I	-	2	0	ARHGAP21	24920216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.279000	0.95777	2.271000	0.75665	0.533000	0.62120	ATA		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
THNSL1	79896	broad.mit.edu	37	10	25313804	25313804	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:25313804T>C	ENST00000524413.1	+	3	1999	c.1652T>C	c.(1651-1653)cTa>cCa	p.L551P	THNSL1_ENST00000376356.4_Missense_Mutation_p.L551P			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	551						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L551P(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	CATTATGATCTAAGGGAAAGA	0.348																																					p.L551P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1652C	10						.						52.0	55.0	54.0					10																	25313804		2203	4300	6503	25353810	SO:0001583	missense	79896	exon3			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1652T>C	10.37:g.25313804T>C	ENSP00000434887:p.Leu551Pro		25353810	NM_024838	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991734	0.54041	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	D;D	0.96554	-4.05;-4.05	5.94	5.94	0.96194	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.077636	0.52532	D	0.000071	D	0.96018	0.8703	N	0.20483	0.58	0.80722	D	1	D	0.63880	0.993	D	0.65773	0.938	D	0.97259	0.9903	10	0.87932	D	0	-39.9288	16.3979	0.83621	0.0:0.0:0.0:1.0	.	551	Q8IYQ7	THNS1_HUMAN	P	551	ENSP00000434887:L551P;ENSP00000365534:L551P	ENSP00000365534:L551P	L	+	2	0	THNSL1	25353810	1.000000	0.71417	0.925000	0.36789	0.823000	0.46562	7.273000	0.78527	2.279000	0.76181	0.459000	0.35465	CTA		0.348	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838	
MYO3A	53904	broad.mit.edu	37	10	26443696	26443696	+	Missense_Mutation	SNP	C	C	T	rs550530253		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:26443696C>T	ENST00000265944.5	+	25	2903	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	913	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.R913C(2)		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						AGAAGCCACACGTCATGCCAG	0.408																																					p.R913C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C2737T	10						.						118.0	115.0	116.0					10																	26443696		2203	4300	6503	26483702	SO:0001583	missense	53904	exon25			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.2737C>T	10.37:g.26443696C>T	ENSP00000265944:p.Arg913Cys		26483702	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	5.488	0.275088	0.10403	.	.	ENSG00000095777	ENST00000265944	T	0.79033	-1.23	5.56	-1.46	0.08800	Myosin head, motor domain (2);	0.642704	0.17964	N	0.156072	T	0.73063	0.3539	M	0.75085	2.285	0.09310	N	1	B	0.17038	0.02	B	0.18561	0.022	T	0.63637	-0.6592	10	0.37606	T	0.19	.	11.3068	0.49340	0.0:0.4865:0.0:0.5135	.	913	Q8NEV4	MYO3A_HUMAN	C	913	ENSP00000265944:R913C	ENSP00000265944:R913C	R	+	1	0	MYO3A	26483702	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.276000	0.08514	-0.096000	0.12329	-0.143000	0.13931	CGT		0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					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.M1192fs*1(2)		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						ATCAGACTCCAAAAAAAATGA	0.403																																					p.P1189fs												.	.	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.3567delA	10						.						67.0	66.0	67.0					10																	26462760		2203	4300	6503	26502766	SO:0001589	frameshift_variant	53904	exon30			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.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs		26502766	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26491969	26491969	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:26491969A>G	ENST00000265944.5	+	34	4829	c.4663A>G	c.(4663-4665)Agc>Ggc	p.S1555G	MYO3A_ENST00000478093.1_3'UTR|MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1555					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.S1555G(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						AAAGGAACATAGCCCTAGTTT	0.348																																					p.S1555G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4663G	10						.						83.0	81.0	82.0					10																	26491969		2203	4300	6503	26531975	SO:0001583	missense	53904	exon34			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.4663A>G	10.37:g.26491969A>G	ENSP00000265944:p.Ser1555Gly		26531975	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	9.756	1.168689	0.21621	.	.	ENSG00000095777	ENST00000265944	T	0.77750	-1.12	5.11	-1.82	0.07857	.	1.108720	0.06522	N	0.739856	T	0.59756	0.2217	L	0.29908	0.895	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.33137	-0.9880	10	0.25106	T	0.35	.	1.0361	0.01548	0.4491:0.1506:0.2549:0.1454	.	1555	Q8NEV4	MYO3A_HUMAN	G	1555	ENSP00000265944:S1555G	ENSP00000265944:S1555G	S	+	1	0	MYO3A	26531975	0.000000	0.05858	0.000000	0.03702	0.930000	0.56654	0.493000	0.22451	-0.532000	0.06332	0.459000	0.35465	AGC		0.348	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
GAD2	2572	broad.mit.edu	37	10	26575374	26575374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:26575374G>A	ENST00000376261.3	+	13	1840	c.1337G>A	c.(1336-1338)tGc>tAc	p.C446Y	GAD2_ENST00000259271.3_Missense_Mutation_p.C446Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	446					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.C446Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCCTTACAGTGCGGACGCCAC	0.433																																					p.C446Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337A	10						.						131.0	108.0	116.0					10																	26575374		2203	4300	6503	26615380	SO:0001583	missense	2572	exon13			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1337G>A	10.37:g.26575374G>A	ENSP00000365437:p.Cys446Tyr		26615380	NM_001134366	Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342684	0.82022	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.38722	1.12;1.12	4.98	4.98	0.66077	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	H	0.97540	4.025	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	D	0.86623	0.1880	10	0.87932	D	0	-13.2416	18.27	0.90065	0.0:0.0:1.0:0.0	.	446	Q05329	DCE2_HUMAN	Y	446	ENSP00000365437:C446Y;ENSP00000259271:C446Y	ENSP00000259271:C446Y	C	+	2	0	GAD2	26615380	1.000000	0.71417	0.976000	0.42696	0.848000	0.48234	9.476000	0.97823	2.306000	0.77630	0.655000	0.94253	TGC		0.433	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818	
PDSS1	23590	broad.mit.edu	37	10	26998663	26998663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:26998663G>A	ENST00000376215.5	+	5	486	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	PDSS1_ENST00000376203.5_Missense_Mutation_p.A145T	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	145					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.A145T(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GGCGCTAATGGCCCGAGCATG	0.403																																					p.A145T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	10						.						144.0	144.0	144.0					10																	26998663		2203	4300	6503	27038669	SO:0001583	missense	23590	exon5			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.433G>A	10.37:g.26998663G>A	ENSP00000365388:p.Ala145Thr		27038669	NM_014317	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418540	0.96092	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	T;T	0.67171	-0.25;-0.25	5.26	5.26	0.73747	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	M	0.90814	3.15	0.80722	D	1	D;D	0.61697	0.99;0.975	D;P	0.68621	0.959;0.895	D	0.88112	0.2826	10	0.87932	D	0	-11.7345	18.8227	0.92103	0.0:0.0:1.0:0.0	.	145;145	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	T	145;145;106	ENSP00000365388:A145T;ENSP00000365376:A145T	ENSP00000365376:A145T	A	+	1	0	PDSS1	27038669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.280000	0.95786	2.619000	0.88677	0.650000	0.86243	GCC		0.403	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		
ARMC4	55130	broad.mit.edu	37	10	28101549	28101549	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:28101549T>C	ENST00000305242.5	-	20	3119	c.3027A>G	c.(3025-3027)ctA>ctG	p.L1009L	ARMC4_ENST00000545014.1_Missense_Mutation_p.Y575C|ARMC4_ENST00000537576.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1009					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.L1009L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCATATCCAGTAGAAGCTGTC	0.418																																					p.L1009L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3027G	10						.						64.0	64.0	64.0					10																	28101549		2203	4300	6503	28141555	SO:0001819	synonymous_variant	55130	exon20			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.3027A>G	10.37:g.28101549T>C			28141555	NM_018076	A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.592773	0.00864	.	.	ENSG00000169126	ENST00000545014	T	0.55588	0.51	5.25	-10.5	0.00291	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.54753	D	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.63211	-0.6688	8	0.62326	D	0.03	-13.1398	16.9708	0.86298	0.0:0.5638:0.3327:0.1035	.	575	B7Z7I1	.	C	575	ENSP00000441076:Y575C	ENSP00000441076:Y575C	Y	-	2	0	ARMC4	28141555	0.000000	0.05858	0.003000	0.11579	0.153000	0.21895	-3.806000	0.00361	-4.875000	0.00028	-2.263000	0.00279	TAC		0.418	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
ARMC4	55130	broad.mit.edu	37	10	28250542	28250542	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:28250542C>T	ENST00000305242.5	-	10	1433	c.1341G>A	c.(1339-1341)ttG>ttA	p.L447L	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Silent_p.L139L|ARMC4_ENST00000239715.3_Silent_p.L304L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	447					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.L447L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTCTGATGGCAAATCTGCAC	0.388																																					p.L447L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1341A	10						.						63.0	63.0	63.0					10																	28250542		2202	4297	6499	28290548	SO:0001819	synonymous_variant	55130	exon10			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1341G>A	10.37:g.28250542C>T			28290548	NM_018076	A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	CCDS7157.1																																																																																				0.388	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
KIAA1462	57608	broad.mit.edu	37	10	30315482	30315482	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:30315482T>A	ENST00000375377.1	-	3	3696	c.3595A>T	c.(3595-3597)Aag>Tag	p.K1199*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1199					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.K1199*(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						TCGAAGAACTTGGACTCCAAG	0.532																																					p.K1199X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A3595T	10						.						151.0	148.0	148.0					10																	30315482		1899	4132	6031	30355488	SO:0001587	stop_gained	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.3595A>T	10.37:g.30315482T>A	ENSP00000364526:p.Lys1199*		30355488	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	T	38	7.214517	0.98139	.	.	ENSG00000165757	ENST00000375377	.	.	.	3.86	-1.56	0.08532	.	1.981660	0.02287	N	0.069928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2478	4.7763	0.13180	0.0:0.2886:0.1651:0.5462	.	.	.	.	X	1199	.	ENSP00000364526:K1199X	K	-	1	0	KIAA1462	30355488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.407000	0.07576	-0.274000	0.10170	AAG		0.532	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
CUL2	8453	broad.mit.edu	37	10	35320547	35320547	+	Splice_Site	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:35320547G>A	ENST00000374748.1	-	14	1484	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F	CUL2_ENST00000374742.1_Splice_Site_p.L391F|CUL2_ENST00000602371.1_Splice_Site_p.L334F|CUL2_ENST00000374749.3_Splice_Site_p.L391F|CUL2_ENST00000537177.1_Splice_Site_p.L410F|CUL2_ENST00000374751.3_Splice_Site_p.L391F|CUL2_ENST00000374746.1_Splice_Site_p.L391F			Q13617	CUL2_HUMAN	cullin 2	391					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|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)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.L391F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TACTTAGCAAGCTCATGTAGA	0.418																																					p.L391F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	10						.						132.0	113.0	119.0					10																	35320547		2203	4300	6503	35360553	SO:0001630	splice_region_variant	8453	exon13			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1171-1C>T	10.37:g.35320547G>A			35360553	NM_001198777	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911244	0.92178	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.87	5.87	0.94306	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.77712	2.385	0.80722	D	1	D;P;P	0.54964	0.969;0.932;0.945	P;P;P	0.59546	0.822;0.779;0.859	D	0.90967	0.4817	10	0.87932	D	0	-18.622	20.2009	0.98259	0.0:0.0:1.0:0.0	.	391;410;391	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	F	391;391;391;391;334;391;410	ENSP00000363883:L391F;ENSP00000363880:L391F;ENSP00000363878:L391F;ENSP00000363881:L391F;ENSP00000363874:L391F;ENSP00000444856:L410F	ENSP00000363874:L391F	L	-	1	0	CUL2	35360553	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.058000	0.89460	2.767000	0.95098	0.591000	0.81541	CTT		0.418	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	Missense_Mutation
OR13A1	79290	broad.mit.edu	37	10	45799422	45799422	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:45799422T>C	ENST00000553795.1	-	4	757	c.449A>G	c.(448-450)tAc>tGc	p.Y150C	OR13A1_ENST00000536058.1_Missense_Mutation_p.Y150C|OR13A1_ENST00000374401.2_Missense_Mutation_p.Y150C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y150C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CATGCTGCTGTAATGCAGCGG	0.632																																					p.Y150C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A449G	10						.						32.0	29.0	30.0					10																	45799422		2203	4300	6503	45119428	SO:0001583	missense	79290	exon4			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.449A>G	10.37:g.45799422T>C	ENSP00000451950:p.Tyr150Cys		45119428	NM_001004297	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	t	12.66	2.004621	0.35320	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.33865	1.39;1.39;1.39	5.63	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000647	T	0.56920	0.2018	M	0.93594	3.435	0.37657	D	0.922629	D	0.54772	0.968	P	0.54140	0.743	T	0.63786	-0.6558	10	0.87932	D	0	-56.738	6.2955	0.21083	0.1414:0.0784:0.0:0.7803	.	150	Q8NGR1	O13A1_HUMAN	C	150	ENSP00000451950:Y150C;ENSP00000438657:Y150C;ENSP00000363522:Y150C	ENSP00000311379:Y150C	Y	-	2	0	OR13A1	45119428	1.000000	0.71417	0.020000	0.16555	0.048000	0.14542	7.643000	0.83403	0.395000	0.25257	-0.340000	0.08031	TAC		0.632	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297	
FAM21C	253725	broad.mit.edu	37	10	46280018	46280018	+	Silent	SNP	C	C	T	rs544156897		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:46280018C>T	ENST00000336378.4	+	24	2596	c.2478C>T	c.(2476-2478)tgC>tgT	p.C826C	FAM21C_ENST00000374362.2_Silent_p.C828C|FAM21C_ENST00000540872.1_Silent_p.C828C|FAM21C_ENST00000359860.4_Silent_p.C770C|FAM21C_ENST00000537517.1_Silent_p.C753C	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	826					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.C825C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCCAGGGCTGCGATCCTGATG	0.478													.|||	1	0.000199681	0.0	0.0	5008	,	,		14989	0.0		0.001	False		,,,				2504	0.0				p.C828C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2484T	10						.						152.0	138.0	142.0					10																	46280018		1923	4117	6040	45600024	SO:0001819	synonymous_variant	253725	exon24				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2478C>T	10.37:g.46280018C>T			45600024	NM_001169106	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37																																																																																					0.478	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
SYT15	83849	broad.mit.edu	37	10	46961994	46961994	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:46961994C>T	ENST00000374321.4	-	8	1308	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A	SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374323.4_Silent_p.A467A|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	414						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A414A(2)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCGGCAGAGCGCATGCCAGC	0.657																																					p.A414A	Ovarian(57;1152 1428 19651 37745)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G1242A	10						.						47.0	57.0	54.0					10																	46961994		2078	4196	6274	46382000	SO:0001819	synonymous_variant	83849	exon8			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1242G>A	10.37:g.46961994C>T			46382000	NM_031912	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	CCDS44376.1																																																																																				0.657	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
FRMPD2	143162	broad.mit.edu	37	10	49371502	49371502	+	Silent	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:49371502T>A	ENST00000374201.3	-	28	4052	c.3750A>T	c.(3748-3750)acA>acT	p.T1250T	FRMPD2_ENST00000305531.3_Silent_p.T1225T|FRMPD2_ENST00000407470.4_Silent_p.T1218T|FRMPD2_ENST00000474573.1_Silent_p.T202T|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1250					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.T1250T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGGAGAATGTGTCAAGGAAC	0.512																																					p.T1250T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3750T	10						.						1.0	1.0	1.0					10																	49371502		440	986	1426	49041508	SO:0001819	synonymous_variant	143162	exon28			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3750A>T	10.37:g.49371502T>A			49041508	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	CCDS31195.1																																																																																				0.512	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
PGBD3	267004	broad.mit.edu	37	10	50724502	50724502	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:50724502T>A	ENST00000374127.3	-	2	860	c.659A>T	c.(658-660)gAc>gTc	p.D220V	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D688V|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.D220V|PGBD3_ENST00000603152.1_Missense_Mutation_p.D688V|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.D688V	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	220								p.D220V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTCAAACCGGTCACGTCTCAT	0.388																																					p.D220V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A659T	10						.						74.0	75.0	74.0					10																	50724502		2203	4300	6503	50394508	SO:0001583	missense	267004	exon2			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.659A>T	10.37:g.50724502T>A	ENSP00000363242:p.Asp220Val		50394508	NM_170753	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328369	0.41197	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	0.468	0.468	0.16732	.	.	.	.	.	T	0.25232	0.0613	L	0.58810	1.83	0.09310	N	1	D;P	0.59357	0.985;0.913	P;P	0.53549	0.591;0.729	T	0.10314	-1.0635	8	0.62326	D	0.03	-30.1954	.	.	.	.	688;220	E7EV46;Q8N328	.;PGBD3_HUMAN	V	220;220;688;688	ENSP00000363242:D220V;ENSP00000426963:D220V;ENSP00000423550:D688V;ENSP00000387966:D688V	ENSP00000387966:D688V	D	-	2	0	PGBD3;RP11-123B3.6	50394508	0.069000	0.21087	0.623000	0.29173	0.588000	0.36517	1.316000	0.33620	0.413000	0.25759	0.402000	0.26972	GAC		0.388	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1		
CSTF2T	23283	broad.mit.edu	37	10	53458414	53458414	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:53458414G>T	ENST00000331173.4	-	1	941	c.896C>A	c.(895-897)cCt>cAt	p.P299H	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	299	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P299H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCGCTCTAAAGGCACTGGGCC	0.587																																					p.P299H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C896A	10						.						79.0	77.0	77.0					10																	53458414		2203	4300	6503	53128420	SO:0001583	missense	23283	exon1			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.896C>A	10.37:g.53458414G>T	ENSP00000332444:p.Pro299His		53128420	NM_015235	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925992	0.52759	.	.	ENSG00000177613	ENST00000331173	T	0.25085	1.82	5.23	3.35	0.38373	.	0.134393	0.49916	D	0.000137	T	0.39600	0.1084	L	0.50333	1.59	0.53688	D	0.999976	D	0.89917	1.0	D	0.69142	0.962	T	0.19451	-1.0305	10	0.66056	D	0.02	-1.3935	8.9331	0.35684	0.1807:0.0:0.8193:0.0	.	299	Q9H0L4	CSTFT_HUMAN	H	299	ENSP00000332444:P299H	ENSP00000332444:P299H	P	-	2	0	CSTF2T	53128420	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.829000	0.62737	1.346000	0.45694	0.655000	0.94253	CCT		0.587	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235	
PCDH15	65217	broad.mit.edu	37	10	55582229	55582229	+	Missense_Mutation	SNP	T	T	C	rs564747270|rs397517462|rs369404101	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:55582229T>C	ENST00000320301.6	-	33	5651	c.5257A>G	c.(5257-5259)Att>Gtt	p.I1753V	PCDH15_ENST00000395430.1_Missense_Mutation_p.I1750V|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1755V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1730V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1684V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1713V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1753					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.I1760V(1)|p.I1753V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggagaaataggaggagga	0.463										HNSCC(58;0.16)																											p.I1713V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5137G	10						.						17.0	18.0	17.0					10																	55582229		2202	4299	6501	55252235	SO:0001583	missense	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5257A>G	10.37:g.55582229T>C	ENSP00000322604:p.Ile1753Val		55252235	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	7.656	0.684017	0.14907	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56103	0.57;0.55;0.59;0.49;0.49;0.48	4.43	-7.97	0.01139	.	.	.	.	.	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.30149	-0.9988	9	0.02654	T	1	.	0.6259	0.00786	0.2986:0.3001:0.1876:0.2136	.	1730;1753;1755;1760;1684;1713;1750;1753	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	V	1713;1755;1730;1753;1750;1760;1684	ENSP00000378820:I1713V;ENSP00000354950:I1755V;ENSP00000378821:I1730V;ENSP00000322604:I1753V;ENSP00000378818:I1750V;ENSP00000412628:I1684V	ENSP00000322604:I1753V	I	-	1	0	PCDH15	55252235	0.170000	0.23016	0.000000	0.03702	0.015000	0.08874	0.703000	0.25646	-1.960000	0.01017	-0.464000	0.05259	ATT		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
CCDC6	8030	broad.mit.edu	37	10	61666004	61666004	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:61666004G>A	ENST00000263102.6	-	1	410	c.179C>T	c.(178-180)aCc>aTc	p.T60I		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	60						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGGCGGTTGGTGAGCTCCTC	0.662			T	RET	NSCLC																																p.T60I			Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	.	.	0			c.C179T	10						.						109.0	111.0	110.0					10																	61666004		2203	4300	6503	61336010	SO:0001583	missense	8030	exon1			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.179C>T	10.37:g.61666004G>A	ENSP00000263102:p.Thr60Ile		61336010	NM_005436	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519880	0.44866	.	.	ENSG00000108091	ENST00000263102	T	0.79352	-1.26	4.51	4.51	0.55191	.	0.114766	0.64402	D	0.000018	T	0.68824	0.3043	L	0.39898	1.24	0.44508	D	0.99745	B	0.23316	0.083	B	0.24541	0.054	T	0.65713	-0.6101	10	0.35671	T	0.21	-14.584	11.9551	0.52976	0.0:0.0:0.8259:0.1741	.	60	Q16204	CCDC6_HUMAN	I	60	ENSP00000263102:T60I	ENSP00000263102:T60I	T	-	2	0	CCDC6	61336010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.548000	0.67255	2.328000	0.79073	0.563000	0.77884	ACC		0.662	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436	
REEP3	221035	broad.mit.edu	37	10	65357798	65357798	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:65357798A>G	ENST00000373758.4	+	4	380	c.197A>G	c.(196-198)tAt>tGt	p.Y66C	REEP3_ENST00000298249.4_Missense_Mutation_p.Y51C	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	66					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)		p.Y66C(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCCCTGTACTATGAGCTGAAG	0.338																																					p.Y66C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A197G	10						.						91.0	88.0	89.0					10																	65357798		1802	4078	5880	65027804	SO:0001583	missense	221035	exon4			BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.197A>G	10.37:g.65357798A>G	ENSP00000362863:p.Tyr66Cys		65027804	NM_001001330	Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070601	0.76301	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.93247	-3.19;-3.19	5.67	5.67	0.87782	.	0.056581	0.64402	D	0.000001	D	0.96034	0.8708	M	0.93197	3.39	0.80722	D	1	P;B	0.40834	0.73;0.203	P;B	0.45998	0.5;0.148	D	0.96668	0.9494	10	0.72032	D	0.01	.	14.903	0.70696	1.0:0.0:0.0:0.0	.	66;66	Q6NUK4-2;Q6NUK4	.;REEP3_HUMAN	C	66;51;68	ENSP00000362863:Y66C;ENSP00000298249:Y51C	ENSP00000298249:Y51C	Y	+	2	0	REEP3	65027804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.973000	0.70456	2.164000	0.68074	0.533000	0.62120	TAT		0.338	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330	
CTNNA3	29119	broad.mit.edu	37	10	68940122	68940122	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:68940122C>T	ENST00000433211.2	-	7	1174	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A334T|CTNNA3_ENST00000545309.1_Missense_Mutation_p.A334T	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.A334T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGGCGAATGGCGTTGCATTCT	0.517																																					p.A334T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1000A	10						.						133.0	114.0	120.0					10																	68940122		2203	4300	6503	68610128	SO:0001583	missense	29119	exon7			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1000G>A	10.37:g.68940122C>T	ENSP00000389714:p.Ala334Thr		68610128	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396049	0.62177	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.38401	1.14;1.14;1.23	5.83	4.85	0.62838	.	0.000000	0.50627	D	0.000112	T	0.59128	0.2171	M	0.86573	2.825	0.36848	D	0.887738	D;D;D;P	0.56746	0.977;0.977;0.965;0.74	P;P;P;B	0.56343	0.604;0.604;0.796;0.157	T	0.71111	-0.4687	10	0.62326	D	0.03	-9.5472	14.885	0.70560	0.2138:0.7862:0.0:0.0	.	334;334;334;334	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	T	334	ENSP00000389714:A334T;ENSP00000362849:A334T;ENSP00000441444:A334T	ENSP00000362849:A334T	A	-	1	0	CTNNA3	68610128	0.937000	0.31787	0.885000	0.34714	0.939000	0.58152	2.034000	0.41145	2.753000	0.94483	0.585000	0.79938	GCC		0.517	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
TET1	80312	broad.mit.edu	37	10	70406610	70406610	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:70406610T>C	ENST00000373644.4	+	4	4333	c.4124T>C	c.(4123-4125)gTc>gCc	p.V1375A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1375					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.V1375A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAGAGGAAGTCTGTTCATCC	0.388																																					p.V1375A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4124C	10						.						110.0	109.0	109.0					10																	70406610		2203	4300	6503	70076616	SO:0001583	missense	80312	exon4			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4124T>C	10.37:g.70406610T>C	ENSP00000362748:p.Val1375Ala		70076616	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.405259	0.25378	.	.	ENSG00000138336	ENST00000373644	T	0.06294	3.32	5.22	1.31	0.21738	.	1.315640	0.05646	N	0.584374	T	0.03178	0.0093	N	0.11064	0.09	0.09310	N	1	B	0.27068	0.167	B	0.28011	0.085	T	0.45086	-0.9285	10	0.13470	T	0.59	.	1.0822	0.01645	0.2965:0.0995:0.1403:0.4637	.	1375	Q8NFU7	TET1_HUMAN	A	1375	ENSP00000362748:V1375A	ENSP00000362748:V1375A	V	+	2	0	TET1	70076616	0.001000	0.12720	0.014000	0.15608	0.283000	0.27025	0.342000	0.19926	0.308000	0.22923	0.455000	0.32223	GTC		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
CCAR1	55749	broad.mit.edu	37	10	70513620	70513620	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:70513620A>G	ENST00000265872.6	+	11	1249	c.1130A>G	c.(1129-1131)gAc>gGc	p.D377G	CCAR1_ENST00000543719.1_Missense_Mutation_p.D362G|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.D362G	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	377					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.D377G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCCAGTTGTGACATGATGGAA	0.338																																					p.D377G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1130G	10						.						149.0	152.0	151.0					10																	70513620		2203	4300	6503	70183626	SO:0001583	missense	55749	exon11			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1130A>G	10.37:g.70513620A>G	ENSP00000265872:p.Asp377Gly		70183626	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098741	0.56183	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.65;1.65;1.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.41573	1.285	0.80722	D	1	D;D;B	0.69078	0.996;0.997;0.234	D;D;B	0.79784	0.993;0.989;0.028	T	0.35251	-0.9796	10	0.44086	T	0.13	-15.6295	16.4177	0.83748	1.0:0.0:0.0:0.0	.	362;377;351	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	G	377;362;362;362;351;182	ENSP00000265872:D377G;ENSP00000441820:D362G;ENSP00000445254:D362G;ENSP00000439252:D362G;ENSP00000438610:D351G;ENSP00000439642:D182G	ENSP00000265872:D377G	D	+	2	0	CCAR1	70183626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.245000	0.95431	2.267000	0.75376	0.528000	0.53228	GAC		0.338	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
UNC5B	219699	broad.mit.edu	37	10	73051467	73051467	+	Missense_Mutation	SNP	C	C	T	rs372810875		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:73051467C>T	ENST00000335350.6	+	10	1989	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R514C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	525					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R525C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTGCACCTGCGCAGCGCCAG	0.687													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16661	0.0		0.0	False		,,,				2504	0.0				p.R525C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1573T	10						.		CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	39.0	41.0	40.0		1573	4.2	1.0	10		40	0,8596		0,0,4298	no	missense	UNC5B	NM_170744.4	180	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	525/946	73051467	1,13001	2203	4298	6501	72721473	SO:0001583	missense	219699	exon10			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1573C>T	10.37:g.73051467C>T	ENSP00000334329:p.Arg525Cys		72721473	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	19.48	3.835494	0.71373	2.27E-4	0.0	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.53640	0.67;0.61	4.24	4.24	0.50183	.	0.386985	0.21876	N	0.067810	T	0.58424	0.2121	L	0.54323	1.7	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;P	0.65010	0.931;0.855	T	0.56613	-0.7950	10	0.40728	T	0.16	-24.5288	10.7321	0.46102	0.3359:0.6641:0.0:0.0	.	514;525	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	525;514	ENSP00000334329:R525C;ENSP00000362288:R514C	ENSP00000334329:R525C	R	+	1	0	UNC5B	72721473	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	0.813000	0.27225	2.081000	0.62600	0.556000	0.70494	CGC		0.687	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744	
KAT6B	23522	broad.mit.edu	37	10	76790371	76790371	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:76790371C>T	ENST00000287239.4	+	18	6278	c.5789C>T	c.(5788-5790)gCg>gTg	p.A1930V	KAT6B_ENST00000372714.1_Missense_Mutation_p.A1638V|KAT6B_ENST00000372724.1_Missense_Mutation_p.A1638V|KAT6B_ENST00000372725.1_Missense_Mutation_p.A1638V|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1747V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1930	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1930V(1)									ACCAAGTCAGCGTCTCTGTCA	0.532																																					p.A1930V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5789T	10						.						82.0	85.0	84.0					10																	76790371		2203	4300	6503	76460377	SO:0001583	missense	23522	exon18			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5789C>T	10.37:g.76790371C>T	ENSP00000287239:p.Ala1930Val		76460377	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743092	0.49151	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.81247	-1.43;-1.43;-1.47;-1.43;-1.45	5.69	5.69	0.88448	.	0.000000	0.49916	D	0.000137	T	0.75982	0.3924	N	0.24115	0.695	0.58432	D	0.999992	D;D;P	0.62365	0.991;0.981;0.945	B;P;B	0.45712	0.404;0.491;0.331	T	0.80079	-0.1532	10	0.87932	D	0	-10.1553	19.799	0.96497	0.0:1.0:0.0:0.0	.	1747;1638;1930	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	V	1638;1638;1930;1638;1747	ENSP00000361810:A1638V;ENSP00000361809:A1638V;ENSP00000287239:A1930V;ENSP00000361799:A1638V;ENSP00000361796:A1747V	ENSP00000287239:A1930V	A	+	2	0	KAT6B	76460377	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	7.487000	0.81328	2.682000	0.91365	0.563000	0.77884	GCG		0.532	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
RGR	5995	broad.mit.edu	37	10	86012639	86012639	+	Missense_Mutation	SNP	G	G	A	rs138630905		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:86012639G>A	ENST00000359452.4	+	4	435	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	RGR_ENST00000358110.5_Missense_Mutation_p.V129I	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	129					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.V133I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GAACTCAGCCGTCTCTCTGGT	0.572																																					p.V129I	NSCLC(15;204 545 5889 6385 32445)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G385A	10						.	A	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	154.0	116.0	129.0		385,385,397	-2.5	0.0	10	dbSNP_134	129	2,8598	819.2+/-406.8	0,2,4298	yes	missense,missense,missense	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	129/292,129/254,133/296	86012639	2,13004	2203	4300	6503	86002619	SO:0001583	missense	5995	exon4			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.397G>A	10.37:g.86012639G>A	ENSP00000352427:p.Val133Ile		86002619	NM_001012720	A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	A	0.163	-1.079254	0.01903	0.0	2.33E-4	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.37058	1.22;1.22	4.92	-2.46	0.06461	GPCR, rhodopsin-like superfamily (1);	0.634353	0.17362	N	0.177020	T	0.12944	0.0314	N	0.03983	-0.305	0.09310	N	1	B;B;B	0.13145	0.0;0.007;0.001	B;B;B	0.09377	0.002;0.004;0.002	T	0.30387	-0.9980	10	0.06757	T	0.87	.	12.9911	0.58618	0.5442:0.0:0.4558:0.0	.	129;133;129	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	I	133;129	ENSP00000352427:V133I;ENSP00000350823:V129I	ENSP00000350823:V129I	V	+	1	0	RGR	86002619	0.000000	0.05858	0.001000	0.08648	0.578000	0.36192	-1.535000	0.02210	-0.921000	0.03794	-0.254000	0.11334	GTC		0.572	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921	
BMPR1A	657	broad.mit.edu	37	10	88683169	88683169	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:88683169T>C	ENST00000372037.3	+	12	1916	c.1379T>C	c.(1378-1380)aTg>aCg	p.M460T		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.M460T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TATTACAACATGGTACCGAGT	0.428			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.M460T	Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	"""bone morphogenetic protein receptor, type IA"""		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1379C	10						.						179.0	152.0	161.0					10																	88683169		2203	4300	6503	88673149	SO:0001583	missense	657	exon12	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1379T>C	10.37:g.88683169T>C	ENSP00000361107:p.Met460Thr		88673149	NM_004329	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441099	0.43326	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.63913	-0.07	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.034899	0.85682	D	0.000000	T	0.66046	0.2750	L	0.58428	1.81	0.80722	D	1	P	0.41188	0.741	P	0.45712	0.491	T	0.68953	-0.5273	10	0.54805	T	0.06	.	15.3017	0.73958	0.0:0.0:0.0:1.0	.	460	P36894	BMR1A_HUMAN	T	460	ENSP00000361107:M460T	ENSP00000224764:M460T	M	+	2	0	BMPR1A	88673149	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.096000	0.64535	2.019000	0.59389	0.533000	0.62120	ATG		0.428	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	
KIF20B	9585	broad.mit.edu	37	10	91479364	91479364	+	Silent	SNP	C	C	T	rs149973218		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:91479364C>T	ENST00000371728.3	+	13	1688	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	KIF20B_ENST00000394289.2_Silent_p.N541N|KIF20B_ENST00000416354.1_Silent_p.N541N|KIF20B_ENST00000260753.4_Silent_p.N541N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	541					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.N541N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGCTAGAAAACGCTGAAGAAA	0.348																																					p.N541N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1623T	10						.	C		2,4404	4.2+/-10.8	0,2,2201	45.0	48.0	47.0		1623	3.4	0.0	10	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KIF20B	NM_016195.2		0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384		541/1781	91479364	5,13001	2203	4300	6503	91469344	SO:0001819	synonymous_variant	9585	exon13			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1623C>T	10.37:g.91479364C>T			91469344	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37																																																																																					0.348	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
BTAF1	9044	broad.mit.edu	37	10	93741841	93741841	+	Splice_Site	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:93741841delA	ENST00000265990.6	+	17	2215	c.1907delA	c.(1906-1908)gaa>ga	p.E636fs	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	636					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.T638fs*36(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)				CCTCTGTAGGAAAAAACAGGT	0.383																																					p.E636fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1907delA	10						.						56.0	51.0	53.0					10																	93741841		2203	4300	6503	93731821	SO:0001630	splice_region_variant	9044	exon17			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.1906-1A>-	10.37:g.93741841delA			93731821	NM_003972	B4E0W6|O43578	Frame_Shift_Del	DEL	ENST00000265990.6	37	CCDS7419.1																																																																																				0.383	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	Frame_Shift_Del
CYP26C1	340665	broad.mit.edu	37	10	94824161	94824161	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:94824161G>A	ENST00000285949.5	+	4	729	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	243					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|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)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGGACCAGCTGCATCGGCACC	0.592																																					p.L243L												.	.	0			c.G729A	10						.						50.0	49.0	49.0					10																	94824161		2203	4300	6503	94814151	SO:0001819	synonymous_variant	340665	exon4				CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.729G>A	10.37:g.94824161G>A			94814151	NM_183374	Q5VXH6	Silent	SNP	ENST00000285949.5	37	CCDS7425.1																																																																																				0.592	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374	
TLL2	7093	broad.mit.edu	37	10	98155096	98155096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:98155096C>T	ENST00000357947.3	-	13	1799	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	525	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R525Q(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGGGCCATCCCGGACTTCCAG	0.502																																					p.R525Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1574A	10						.						70.0	71.0	71.0					10																	98155096		2203	4300	6503	98145086	SO:0001583	missense	7093	exon13			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1574G>A	10.37:g.98155096C>T	ENSP00000350630:p.Arg525Gln		98145086	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	36	5.835633	0.97003	.	.	ENSG00000095587	ENST00000357947	T	0.35973	1.28	5.36	5.36	0.76844	CUB (5);	0.000000	0.43110	D	0.000619	T	0.65544	0.2701	M	0.84846	2.72	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	T	0.66991	-0.5783	10	0.46703	T	0.11	.	18.2683	0.90059	0.0:1.0:0.0:0.0	.	525	Q9Y6L7	TLL2_HUMAN	Q	525	ENSP00000350630:R525Q	ENSP00000350630:R525Q	R	-	2	0	TLL2	98145086	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	7.606000	0.82863	2.793000	0.96121	0.561000	0.74099	CGG		0.502	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
TM9SF3	56889	broad.mit.edu	37	10	98325105	98325105	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:98325105delT	ENST00000371142.4	-	3	593	c.377delA	c.(376-378)aatfs	p.N126fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	126						integral component of membrane (GO:0016021)		p.N126fs*9(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CCAGTAATGATTTTTTATGGC	0.299																																					p.N126fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.377delA	10						.						153.0	153.0	153.0					10																	98325105		2202	4298	6500	98315095	SO:0001589	frameshift_variant	56889	exon3			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.377delA	10.37:g.98325105delT	ENSP00000360184:p.Asn126fs		98315095	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	CCDS7450.1																																																																																				0.299	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	
PGAM1	5223	broad.mit.edu	37	10	99192235	99192235	+	Missense_Mutation	SNP	G	G	A	rs371468578		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:99192235G>A	ENST00000334828.5	+	4	867	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	240					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)	p.R240H(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GAGACGGTGCGCAAAGCCATG	0.577																																					p.R240H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G719A	10						.	G	HIS/ARG	1,4397		0,1,2198	47.0	49.0	48.0		719	5.4	1.0	10		48	0,8560		0,0,4280	no	missense	PGAM1	NM_002629.2	29	0,1,6478	AA,AG,GG		0.0,0.0227,0.0077	benign	240/255	99192235	1,12957	2199	4280	6479	99182225	SO:0001583	missense	5223	exon4			BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.719G>A	10.37:g.99192235G>A	ENSP00000359991:p.Arg240His		99182225	NM_002629	Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921032	0.52653	2.27E-4	0.0	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80304	-1.36	5.39	5.39	0.77823	.	0.139807	0.47093	D	0.000247	T	0.80944	0.4721	M	0.67625	2.065	0.47276	D	0.999378	B;B	0.18013	0.025;0.004	B;B	0.08055	0.003;0.003	T	0.77702	-0.2489	10	0.72032	D	0.01	-27.5229	19.4866	0.95032	0.0:0.0:1.0:0.0	.	225;240	B4DKL5;P18669	.;PGAM1_HUMAN	H	240;130	ENSP00000359991:R240H	ENSP00000359991:R240H	R	+	2	0	PGAM1	99182225	0.542000	0.26426	0.998000	0.56505	0.958000	0.62258	2.942000	0.49018	2.683000	0.91414	0.561000	0.74099	CGC		0.577	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629	
GBF1	8729	broad.mit.edu	37	10	104126881	104126881	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:104126881delT	ENST00000369983.3	+	20	2730	c.2470delT	c.(2470-2472)tttfs	p.F824fs		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	824	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S825fs*25(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CGATGCCTGCTTTTCCCTGGC	0.483																																					p.F825fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2473delT	10						.						185.0	159.0	168.0					10																	104126881		2203	4300	6503	104116871	SO:0001589	frameshift_variant	8729	exon20			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2470delT	10.37:g.104126881delT	ENSP00000359000:p.Phe824fs		104116871	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Frame_Shift_Del	DEL	ENST00000369983.3	37	CCDS7533.1																																																																																				0.483	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
CPXM2	119587	broad.mit.edu	37	10	125506420	125506420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:125506420delC	ENST00000241305.3	-	14	2285	c.2131delG	c.(2131-2133)gccfs	p.A711fs	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	711					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A711fs*35(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CACCTTGTGGCCCCCATGTCA	0.547																																					p.A711fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2131delG	10						.						167.0	158.0	161.0					10																	125506420		2203	4300	6503	125496410	SO:0001589	frameshift_variant	119587	exon14			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2131delG	10.37:g.125506420delC	ENSP00000241305:p.Ala711fs		125496410	NM_198148	B4E3Q2	Frame_Shift_Del	DEL	ENST00000241305.3	37	CCDS7637.1																																																																																				0.547	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
PPP2R2D	55844	broad.mit.edu	37	10	133761123	133761123	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr10:133761123C>A	ENST00000422256.2	+	5	714	c.229C>A	c.(229-231)Cgg>Agg	p.R77R	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	304					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.R273W(1)|p.R77R(1)|p.R273R(1)|p.R77W(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)		TCATAGTGGGCGGTACATGAT	0.493																																					p.A271E												.	.	4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|endometrium(2)	c.C812A	10						.						70.0	70.0	70.0					10																	133761123		1954	4172	6126	133611113	SO:0001819	synonymous_variant	55844	exon6			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	ENST00000422256.2:c.229C>A	10.37:g.133761123C>A			133611113	NM_018461	A8KAK0|Q5SQJ2|Q9P1Y7	Silent	SNP	ENST00000422256.2	37																																																																																					0.493	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461	
CCDC15	80071	broad.mit.edu	37	11	124845048	124845049	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:124845048_124845049insA	ENST00000344762.5	+	5	832_833	c.573_574insA	c.(574-576)aaafs	p.K192fs	CCDC15_ENST00000529051.1_Frame_Shift_Ins_p.K192fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	192						centrosome (GO:0005813)		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACCGTGATTAAAAAAAAGGG	0.371																																					p.I191fs												.	.	7	Deletion - Frameshift(5)|Insertion - Frameshift(2)	large_intestine(7)	c.573_574insA	11						.																																			124350259	SO:0001589	frameshift_variant	80071	exon5			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.581dupA	11.37:g.124845056_124845056dupA	ENSP00000341684:p.Lys192fs		124350258	NM_025004	Q9H8U7	Frame_Shift_Ins	INS	ENST00000344762.5	37	CCDS44756.1																																																																																				0.371	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
SNX19	399979	broad.mit.edu	37	11	130777912	130777913	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:130777912_130777913insG	ENST00000265909.4	-	5	2669_2670	c.2100_2101insC	c.(2098-2103)cccacafs	p.T701fs	SNX19_ENST00000530356.1_Frame_Shift_Ins_p.T81fs|SNX19_ENST00000528555.1_Frame_Shift_Ins_p.T81fs|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000545537.1_Intron|SNX19_ENST00000539184.1_Frame_Shift_Ins_p.T144fs|SNX19_ENST00000534726.1_5'UTR|SNX19_ENST00000533214.1_Frame_Shift_Ins_p.T701fs	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	701					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.T701fs*6(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGCTCCTCTGTGGGGCTCTGGG	0.584																																					p.T701fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2101_2102insC	11						.																																			130283123	SO:0001589	frameshift_variant	399979	exon5			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2101dupC	11.37:g.130777916_130777916dupG	ENSP00000265909:p.Thr701fs		130283122	NM_014758	E9PKB9|Q8IV55	Frame_Shift_Ins	INS	ENST00000265909.4	37	CCDS31721.1																																																																																				0.584	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
CTR9	9646	broad.mit.edu	37	11	10786161	10786161	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:10786161G>A	ENST00000361367.2	+	12	1906	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	494					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.A494T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTACTATAACGCCATTTCCGT	0.388																																					p.A494T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1480A	11						.						97.0	85.0	89.0					11																	10786161		2201	4294	6495	10742737	SO:0001583	missense	9646	exon12			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1480G>A	11.37:g.10786161G>A	ENSP00000355013:p.Ala494Thr		10742737	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139264	0.56936	.	.	ENSG00000198730	ENST00000361367	T	0.16743	2.32	5.88	5.88	0.94601	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	M	0.63428	1.95	0.80722	D	1	P	0.37352	0.591	B	0.18561	0.022	T	0.02728	-1.1118	10	0.52906	T	0.07	-12.9198	20.2187	0.98312	0.0:0.0:1.0:0.0	.	494	Q6PD62	CTR9_HUMAN	T	494	ENSP00000355013:A494T	ENSP00000355013:A494T	A	+	1	0	CTR9	10742737	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GCC		0.388	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
ATM	472	broad.mit.edu	37	11	108186821	108186821	+	Missense_Mutation	SNP	G	G	A	rs376521407		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:108186821G>A	ENST00000452508.2	+	43	6368	c.6179G>A	c.(6178-6180)cGc>cAc	p.R2060H	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2060H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2060	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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.R2060H(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)	TCATCAACACGCCAGGCAGGA	0.413			"""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.R2060H		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6179A	11						.						105.0	91.0	96.0					11																	108186821		2201	4298	6499	107692031	SO:0001583	missense	472	exon42	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.6179G>A	11.37:g.108186821G>A	ENSP00000388058:p.Arg2060His		107692031	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551239	0.65311	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01599	4.74;4.74	5.29	5.29	0.74685	PIK-related kinase (1);Armadillo-type fold (1);	0.096495	0.64402	D	0.000003	T	0.03178	0.0093	M	0.74881	2.28	0.80722	D	1	P	0.46859	0.885	B	0.35039	0.194	T	0.59043	-0.7528	10	0.27785	T	0.31	.	17.1094	0.86671	0.0:0.0:1.0:0.0	.	2060	Q13315	ATM_HUMAN	H	2060	ENSP00000278616:R2060H;ENSP00000388058:R2060H	ENSP00000278616:R2060H	R	+	2	0	ATM	107692031	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	7.282000	0.78630	2.473000	0.83533	0.484000	0.47621	CGC		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ZC3H12C	85463	broad.mit.edu	37	11	110036424	110036424	+	Missense_Mutation	SNP	G	G	A	rs543476423		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:110036424G>A	ENST00000278590.3	+	6	2665	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.A841T|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A873T	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	872							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.A872T(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)		GCAGCTCGCCGCAGCCATTTT	0.433																																					p.A872T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2614A	11						.						25.0	25.0	25.0					11																	110036424		1925	4125	6050	109541634	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.2614G>A	11.37:g.110036424G>A	ENSP00000278590:p.Ala872Thr		109541634	NM_033390	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242120	0.79912	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.44881	0.91;0.91;0.94	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.68593	2.085	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.66077	-0.6013	10	0.87932	D	0	-19.5523	20.5666	0.99351	0.0:0.0:1.0:0.0	.	873;872;872	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	T	872;873;841	ENSP00000278590:A872T;ENSP00000431821:A873T;ENSP00000413094:A841T	ENSP00000278590:A872T	A	+	1	0	ZC3H12C	109541634	1.000000	0.71417	0.986000	0.45419	0.441000	0.31987	9.476000	0.97823	2.854000	0.98071	0.655000	0.94253	GCA		0.433	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
ZBTB16	7704	broad.mit.edu	37	11	113934870	113934870	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:113934870C>T	ENST00000335953.4	+	2	1228	c.848C>T	c.(847-849)cCg>cTg	p.P283L	ZBTB16_ENST00000392996.2_Missense_Mutation_p.P283L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	283					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P283L(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCTGGGACCCCGACTCGAAGC	0.662																																					p.P283L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C848T	11						.						51.0	43.0	46.0					11																	113934870		2201	4296	6497	113440080	SO:0001583	missense	7704	exon2			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.848C>T	11.37:g.113934870C>T	ENSP00000338157:p.Pro283Leu		113440080	NM_006006	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194228	0.78902	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.11930	2.73;2.73	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.02546	-1.1143	10	0.14656	T	0.56	-7.0676	18.7139	0.91668	0.0:1.0:0.0:0.0	.	283;288	Q05516;Q59H43	ZBT16_HUMAN;.	L	283	ENSP00000338157:P283L;ENSP00000376721:P283L	ENSP00000338157:P283L	P	+	2	0	ZBTB16	113440080	1.000000	0.71417	0.956000	0.39512	0.870000	0.49936	5.868000	0.69605	2.651000	0.90000	0.655000	0.94253	CCG		0.662	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006	
CADM1	23705	broad.mit.edu	37	11	115085472	115085472	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:115085472C>T	ENST00000452722.3	-	7	870	c.850G>A	c.(850-852)Gat>Aat	p.D284N	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.D284N|CADM1_ENST00000536727.1_Missense_Mutation_p.D284N|CADM1_ENST00000542447.2_Missense_Mutation_p.D284N|CADM1_ENST00000537058.1_Missense_Mutation_p.D284N	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.D284N(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ATTTCATCATCGACTCTCACC	0.478																																					p.D284N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	11						.						215.0	186.0	196.0					11																	115085472		2201	4296	6497	114590682	SO:0001583	missense	23705	exon7			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.850G>A	11.37:g.115085472C>T	ENSP00000395359:p.Asp284Asn		114590682	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.146100|3.146100	0.57044|0.57044	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581|ENST00000545380	T;T;T;T;T|.	0.15603|.	2.41;2.41;2.41;2.41;2.41|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47600|0.47600	0.1454|0.1454	N|N	0.05441|0.05441	-0.05|-0.05	0.80722|0.80722	D|D	1|1	D;D;D;B;D|.	0.76494|.	0.987;0.973;0.984;0.033;0.999|.	P;P;P;B;D|.	0.80764|.	0.711;0.595;0.807;0.041;0.994|.	T|T	0.42616|0.42616	-0.9441|-0.9441	10|5	0.30854|.	T|.	0.27|.	.|.	19.6764|19.6764	0.95936|0.95936	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	284;284;285;284;284|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	N|Q	284;284;284;284;243;284|282	ENSP00000439176:D284N;ENSP00000395359:D284N;ENSP00000439817:D284N;ENSP00000440322:D284N;ENSP00000329797:D284N|.	ENSP00000329797:D284N|.	D|R	-|-	1|2	0|0	CADM1|CADM1	114590682|114590682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.456000|7.456000	0.80751|0.80751	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.478	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
APOA5	116519	broad.mit.edu	37	11	116660947	116660947	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:116660947C>T	ENST00000227665.4	-	3	1032	c.998G>A	c.(997-999)aGt>aAt	p.S333N	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.S333N			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	333					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.S333N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AACCTTGCCACTGTCTGTTTG	0.617																																					p.S333N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	11						.						106.0	95.0	99.0					11																	116660947		2201	4296	6497	116166157	SO:0001583	missense	116519	exon4			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.998G>A	11.37:g.116660947C>T	ENSP00000227665:p.Ser333Asn		116166157	NM_052968	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391707	0.04932	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.70516	-0.49;-0.49	4.94	2.99	0.34606	Apolipoprotein/apolipophorin (1);	0.890661	0.09589	N	0.781744	T	0.58061	0.2096	L	0.38531	1.155	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.43829	-0.9367	10	0.28530	T	0.3	0.911	6.7863	0.23675	0.0:0.7217:0.1759:0.1024	.	330;333	B0YIW1;Q6Q788	.;APOA5_HUMAN	N	333	ENSP00000227665:S333N;ENSP00000445002:S333N	ENSP00000227665:S333N	S	-	2	0	APOA5	116166157	0.000000	0.05858	0.057000	0.19452	0.044000	0.14063	0.064000	0.14437	0.601000	0.29879	0.655000	0.94253	AGT		0.617	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2		
CEP164	22897	broad.mit.edu	37	11	117209340	117209340	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:117209340T>G	ENST00000278935.3	+	3	185	c.38T>G	c.(37-39)gTt>gGt	p.V13G		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	13	Interaction with ATRIP.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V13G(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GATCAGCTGGTTCTGGAAGAA	0.488																																					p.V13G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38G	11						.						153.0	148.0	150.0					11																	117209340		2201	4296	6497	116714550	SO:0001583	missense	22897	exon3			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.38T>G	11.37:g.117209340T>G	ENSP00000278935:p.Val13Gly		116714550	NM_014956	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556567	0.86231	.	.	ENSG00000110274	ENST00000525734;ENST00000278935;ENST00000527609;ENST00000533570;ENST00000529538	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.94	4.94	0.65067	.	0.178467	0.26948	N	0.021683	T	0.80171	0.4574	M	0.77486	2.375	0.80722	D	1	D;D;D	0.69078	0.994;0.97;0.997	P;P;D	0.64410	0.785;0.767;0.925	T	0.83150	-0.0104	10	0.87932	D	0	-5.9579	13.7153	0.62693	0.0:0.0:0.0:1.0	.	13;13;13	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	G	13	ENSP00000436609:V13G;ENSP00000278935:V13G;ENSP00000436351:V13G;ENSP00000431302:V13G	ENSP00000278935:V13G	V	+	2	0	CEP164	116714550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.146000	0.77373	2.070000	0.61991	0.533000	0.62120	GTT		0.488	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
CXCR5	643	broad.mit.edu	37	11	118764535	118764535	+	Silent	SNP	C	C	T	rs140701663		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:118764535C>T	ENST00000292174.4	+	2	458	c.282C>T	c.(280-282)gcC>gcT	p.A94A		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	94					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)	p.A94A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCCACCTGGCCGTGGCCGACC	0.637																																					p.A49A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147T	11						.	C	,	1,4399	2.1+/-5.4	0,1,2199	102.0	93.0	96.0		282,147	-7.7	0.6	11	dbSNP_134	96	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	CXCR5	NM_001716.4,NM_032966.2	,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,	94/373,49/328	118764535	1,12989	2200	4295	6495	118269745	SO:0001819	synonymous_variant	643	exon1			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.282C>T	11.37:g.118764535C>T			118269745	NM_032966	Q14811	Silent	SNP	ENST00000292174.4	37	CCDS8402.1																																																																																				0.637	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716	
HYOU1	10525	broad.mit.edu	37	11	118923438	118923438	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:118923438G>A	ENST00000404233.3	-	9	1022	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	HYOU1_ENST00000543287.1_Missense_Mutation_p.R213W|HYOU1_ENST00000525859.1_Missense_Mutation_p.R300W|HYOU1_ENST00000529972.1_Missense_Mutation_p.R300W	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	300					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R300W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGTTCTCCCGCACATCCTTT	0.617																																					p.R300W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898T	11						.						75.0	68.0	70.0					11																	118923438		2200	4295	6495	118428648	SO:0001583	missense	10525	exon9			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.898C>T	11.37:g.118923438G>A	ENSP00000384144:p.Arg300Trp		118428648	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827342	0.71143	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01113	5.32;5.32;5.32;5.32;5.32	5.23	4.31	0.51392	.	0.053648	0.64402	D	0.000001	T	0.07863	0.0197	M	0.90309	3.105	0.54753	D	0.999981	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.63192	0.912;0.87;0.912;0.912	T	0.11991	-1.0565	10	0.41790	T	0.15	-21.1672	15.2815	0.73787	0.0:0.0:0.8588:0.1412	.	291;344;300;300	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	W	300;291;300;300;149;300;343;213;300	ENSP00000384144:R300W;ENSP00000437313:R300W;ENSP00000433397:R300W;ENSP00000442727:R213W;ENSP00000431874:R300W	ENSP00000278752:R291W	R	-	1	2	HYOU1	118428648	0.996000	0.38824	0.998000	0.56505	0.796000	0.44982	2.085000	0.41634	1.419000	0.47118	0.655000	0.94253	CGG		0.617	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
GRIK4	2900	broad.mit.edu	37	11	120531031	120531031	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:120531031C>T	ENST00000527524.2	+	3	291	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S	GRIK4_ENST00000438375.2_Missense_Mutation_p.P2S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	2					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.P2S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ATAGAAGATGCCCCGCGTCTC	0.637											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P2S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4T	11						.						67.0	61.0	63.0					11																	120531031		2203	4299	6502	120036241	SO:0001583	missense	2900	exon1			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.4C>T	11.37:g.120531031C>T	ENSP00000435648:p.Pro2Ser	1504	120036241	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616512	0.66672	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11169	2.8;2.8	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.12092	0.0294	N	0.08118	0	0.35458	D	0.79628	D;D	0.58268	0.982;0.982	P;P	0.52454	0.699;0.699	T	0.25117	-1.0141	10	0.45353	T	0.12	.	18.6184	0.91312	0.0:1.0:0.0:0.0	.	2;2	A6H8K8;Q16099	.;GRIK4_HUMAN	S	2	ENSP00000435648:P2S;ENSP00000404063:P2S	ENSP00000404063:P2S	P	+	1	0	GRIK4	120036241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.202000	0.65169	2.764000	0.94973	0.563000	0.77884	CCC		0.637	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
MUC5B	727897	broad.mit.edu	37	11	1264348	1264348	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:1264348A>G	ENST00000529681.1	+	31	6296	c.6238A>G	c.(6238-6240)Acc>Gcc	p.T2080A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2083A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2080	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2083A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GATCAGCACAACCACCACACC	0.637																																					p.T2080A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6238G	11						.						23.0	30.0	28.0					11																	1264348		1835	4048	5883	1220924	SO:0001583	missense	727897	exon31			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6238A>G	11.37:g.1264348A>G	ENSP00000436812:p.Thr2080Ala		1220924	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	a	5.996	0.367604	0.11352	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20738	2.05;2.27	2.63	0.106	0.14540	.	.	.	.	.	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	B;B	0.15930	0.01;0.015	B;B	0.09377	0.004;0.003	T	0.26360	-1.0105	9	0.87932	D	0	.	5.6162	0.17432	0.7191:0.0:0.2809:0.0	.	2773;2083	A7Y9J9;E9PBJ0	.;.	A	2080;2083;2081;2150	ENSP00000436812:T2080A;ENSP00000415793:T2083A	ENSP00000343037:T2081A	T	+	1	0	MUC5B	1220924	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.368000	0.01077	-0.097000	0.12307	0.164000	0.16699	ACC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MICAL2	9645	broad.mit.edu	37	11	12264316	12264316	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:12264316G>A	ENST00000256194.4	+	20	2943	c.2655G>A	c.(2653-2655)ccG>ccA	p.P885P	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Silent_p.P885P|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	885					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.P885P(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGGATTTCCCGCAGGTAAACA	0.527																																					p.P885P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2655A	11						.						64.0	67.0	66.0					11																	12264316		2201	4294	6495	12220892	SO:0001819	synonymous_variant	9645	exon20			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2655G>A	11.37:g.12264316G>A			12220892	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																				0.527	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
TECTA	7007	broad.mit.edu	37	11	120980030	120980030	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:120980030G>A	ENST00000392793.1	+	4	580	c.309G>A	c.(307-309)gtG>gtA	p.V103V	TECTA_ENST00000264037.2_Silent_p.V103V			O75443	TECTA_HUMAN	tectorin alpha	103	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				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.V103V(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)		GGGCAGATGTGCACAATGGAA	0.502																																					p.V103V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	11						.						103.0	94.0	97.0					11																	120980030		2203	4299	6502	120485240	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.309G>A	11.37:g.120980030G>A			120485240	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.502	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
OR10G4	390264	broad.mit.edu	37	11	123887118	123887118	+	Silent	SNP	G	G	A	rs150326783	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:123887118G>A	ENST00000320891.4	+	1	837	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T279T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGTGCTGACGCCCCTTCTCA	0.468													-|||	12	0.00239617	0.0008	0.0	5008	,	,		19596	0.002		0.0	False		,,,				2504	0.0092				p.T279T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G837A	11						.	A		2,4400		0,2,2199	105.0	92.0	96.0		837	-7.0	0.0	11	dbSNP_134	96	0,8598		0,0,4299	no	coding-synonymous	OR10G4	NM_001004462.1		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		279/312	123887118	2,12998	2201	4299	6500	123392328	SO:0001819	synonymous_variant	390264	exon1			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.837G>A	11.37:g.123887118G>A			123392328	NM_001004462	Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.468	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
VWA5A	4013	broad.mit.edu	37	11	124013277	124013277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:124013277G>T	ENST00000456829.2	+	17	2403	c.2152G>T	c.(2152-2154)Gag>Tag	p.E718*	VWA5A_ENST00000392748.1_Nonsense_Mutation_p.E718*|VWA5A_ENST00000360334.4_3'UTR	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	718								p.E718*(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACAGCCTGCCGAGGTAAGATT	0.408																																					p.E718X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2152T	11						.						97.0	92.0	94.0					11																	124013277		2201	4299	6500	123518487	SO:0001587	stop_gained	4013	exon16			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2152G>T	11.37:g.124013277G>T	ENSP00000407726:p.Glu718*		123518487	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Nonsense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	37	6.336494	0.97485	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	.	.	.	5.29	-2.04	0.07343	.	0.670270	0.15200	N	0.275053	.	.	.	.	.	.	0.45378	D	0.998368	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9449	4.9686	0.14103	0.3699:0.3697:0.2605:0.0	.	.	.	.	X	718	.	ENSP00000376504:E718X	E	+	1	0	VWA5A	123518487	0.048000	0.20356	0.088000	0.20740	0.048000	0.14542	0.059000	0.14322	-0.083000	0.12618	0.561000	0.74099	GAG		0.408	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
OR8B2	26595	broad.mit.edu	37	11	124252647	124252647	+	Missense_Mutation	SNP	A	A	G	rs141277809		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:124252647A>G	ENST00000375013.2	-	1	611	c.593T>C	c.(592-594)gTt>gCt	p.V198A		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V198A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGAGAACAACCACCTCGTT	0.433																																					p.V198A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T593C	11						.	A	ALA/VAL	0,4402		0,0,2201	112.0	114.0	113.0		593	2.4	0.0	11	dbSNP_134	113	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR8B2	NM_001005468.1	64	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	198/314	124252647	1,12999	2201	4299	6500	123757857	SO:0001583	missense	26595	exon1			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.593T>C	11.37:g.124252647A>G	ENSP00000364152:p.Val198Ala		123757857	NM_001005468	Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	a	12.87	2.066891	0.36470	0.0	1.16E-4	ENSG00000204293	ENST00000375013	T	0.38077	1.16	3.57	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.41396	0.1157	L	0.35288	1.05	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.10613	-1.0622	10	0.48119	T	0.1	.	5.5607	0.17142	0.656:0.1747:0.0:0.1692	.	198	Q96RD0	OR8B2_HUMAN	A	198	ENSP00000364152:V198A	ENSP00000364152:V198A	V	-	2	0	OR8B2	123757857	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.363000	0.20301	0.516000	0.28340	0.329000	0.21502	GTT		0.433	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468	
RPUSD4	84881	broad.mit.edu	37	11	126081430	126081430	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:126081430G>A	ENST00000298317.4	-	1	157	c.104C>T	c.(103-105)gCc>gTc	p.A35V	RPUSD4_ENST00000533628.1_Missense_Mutation_p.A35V|FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA|RPUSD4_ENST00000534393.1_5'Flank|FAM118B_ENST00000533050.1_5'UTR|RNU4-86P_ENST00000410135.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	35	Poly-Ala.				pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.A35V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		AGAGGCAGCGGCAGCGGCACA	0.612																																					p.A35V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C104T	11						.						112.0	120.0	117.0					11																	126081430		2201	4299	6500	125586640	SO:0001583	missense	84881	exon1			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.104C>T	11.37:g.126081430G>A	ENSP00000298317:p.Ala35Val		125586640	NM_032795	E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552880	0.45487	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.26810	2.82;2.64;1.71	5.31	5.31	0.75309	.	0.492552	0.22301	N	0.061867	T	0.30603	0.0770	M	0.72479	2.2	0.80722	D	1	P;P	0.42456	0.78;0.78	B;B	0.38106	0.265;0.265	T	0.13522	-1.0506	10	0.59425	D	0.04	-18.89	14.3492	0.66688	0.0:0.0:1.0:0.0	.	35;35	E9PML2;Q96CM3	.;RUSD4_HUMAN	V	35	ENSP00000298317:A35V;ENSP00000433065:A35V;ENSP00000433709:A35V	ENSP00000298317:A35V	A	-	2	0	RPUSD4	125586640	0.371000	0.25056	0.178000	0.23040	0.024000	0.10985	4.767000	0.62286	2.755000	0.94549	0.650000	0.86243	GCC		0.612	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795	
GLB1L3	112937	broad.mit.edu	37	11	134181044	134181044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:134181044G>A	ENST00000431683.2	+	13	1267	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	423					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.A423T(1)|p.A84T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCTGTGGGACGCCCTATCCTA	0.582																																					p.A423T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1267A	11						.						165.0	168.0	167.0					11																	134181044		2009	4165	6174	133686254	SO:0001583	missense	112937	exon13				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1267G>A	11.37:g.134181044G>A	ENSP00000396615:p.Ala423Thr		133686254	NM_001080407	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848204	0.32699	.	.	ENSG00000166105	ENST00000431683	D	0.97041	-4.22	4.87	0.8	0.18672	.	1.193210	0.05739	N	0.601099	D	0.92635	0.7660	L	0.33668	1.02	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.82335	-0.0508	10	0.21014	T	0.42	.	3.45	0.07494	0.2962:0.0:0.5255:0.1782	.	423	Q8NCI6	GLBL3_HUMAN	T	423	ENSP00000396615:A423T	ENSP00000396615:A423T	A	+	1	0	GLB1L3	133686254	0.028000	0.19301	0.000000	0.03702	0.009000	0.06853	1.410000	0.34691	0.056000	0.16144	0.455000	0.32223	GCC		0.582	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	
MUC5B	727897	broad.mit.edu	37	11	1265448	1265449	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	TG	TG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:1265448_1265449delTG	ENST00000529681.1	+	31	7396_7397	c.7338_7339delTG	c.(7336-7341)actgagfs	p.E2447fs	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Frame_Shift_Del_p.E2450fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2447	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.E2450fs*209(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTACGACTGAGTCCACTGG	0.663																																					p.2446_2447del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.7338_7339del	11						.																																			1222025	SO:0001589	frameshift_variant	727897	exon31			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7338_7339delTG	11.37:g.1265448_1265449delTG	ENSP00000436812:p.Glu2447fs		1222024	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	CCDS44515.2																																																																																				0.663	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
BRSK2	9024	broad.mit.edu	37	11	1472601	1472601	+	Splice_Site	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:1472601T>C	ENST00000528841.1	+	15	1880	c.1496T>C	c.(1495-1497)gTt>gCt	p.V499A	BRSK2_ENST00000526678.1_Splice_Site_p.V521A|BRSK2_ENST00000531197.1_Splice_Site_p.V499A|BRSK2_ENST00000382179.1_Splice_Site_p.V545A|BRSK2_ENST00000528710.1_Splice_Site_p.V439A|BRSK2_ENST00000308230.5_Splice_Site_p.V521A|BRSK2_ENST00000308219.9_Splice_Site_p.V499A|BRSK2_ENST00000544817.1_Splice_Site_p.V194A			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	499					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.V499A(2)		endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GTGTGCACAGTTCCGACGCCG	0.642																																					p.V499A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1496C	11						.						107.0	123.0	117.0					11																	1472601		2177	4251	6428	1429177	SO:0001630	splice_region_variant	9024	exon15			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1496-1T>C	11.37:g.1472601T>C			1429177	NM_003957	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047493	0.55110	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	3.81	3.81	0.43845	.	0.000000	0.64402	U	0.000001	T	0.67306	0.2879	M	0.63428	1.95	0.50467	D	0.999878	D;P;D;B;B	0.71674	0.998;0.694;0.998;0.188;0.095	D;P;D;B;B	0.85130	0.997;0.6;0.997;0.17;0.058	T	0.67998	-0.5525	9	.	.	.	.	12.7543	0.57325	0.0:0.0:0.0:1.0	.	521;545;499;499;499	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	A	499;499;521;499;521;439;545;194	ENSP00000310697:V499A;ENSP00000431152:V499A;ENSP00000310805:V521A;ENSP00000432000:V499A;ENSP00000433370:V521A;ENSP00000433235:V439A;ENSP00000371614:V545A;ENSP00000445168:V194A	.	V	+	2	0	BRSK2	1429177	1.000000	0.71417	0.993000	0.49108	0.485000	0.33311	7.518000	0.81795	1.613000	0.50231	0.379000	0.24179	GTT		0.642	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	Missense_Mutation
KRTAP5-3	387266	broad.mit.edu	37	11	1629527	1629527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:1629527delC	ENST00000399685.1	-	1	166	c.89delG	c.(88-90)ggcfs	p.G30fs		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	30						keratin filament (GO:0045095)		p.G30fs*>209(1)|p.G30D(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCCACAGCCCCCATAGCC	0.677																																					p.G30fs												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.89delG	11						.						53.0	69.0	63.0					11																	1629527		2194	4286	6480	1586103	SO:0001589	frameshift_variant	387266	exon1			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.89delG	11.37:g.1629527delC	ENSP00000382592:p.Gly30fs		1586103	NM_001012708	Q6PL44|Q701N3	Frame_Shift_Del	DEL	ENST00000399685.1	37	CCDS41591.1																																																																																				0.677	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1		
NUP98	4928	broad.mit.edu	37	11	3744453	3744453	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:3744453G>T	ENST00000324932.7	-	16	2500	c.2080C>A	c.(2080-2082)Cat>Aat	p.H694N	NUP98_ENST00000359171.4_Missense_Mutation_p.H694N|NUP98_ENST00000355260.3_Missense_Mutation_p.H694N|NUP98_ENST00000397007.4_Missense_Mutation_p.H711N|NUP98_ENST00000397004.4_Missense_Mutation_p.H694N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	711					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.H694N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GACTCATCATGAAAAGACGTT	0.423			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.H711N			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2131A	11						.						170.0	150.0	157.0					11																	3744453		2201	4298	6499	3701029	SO:0001583	missense	4928	exon16			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2080C>A	11.37:g.3744453G>T	ENSP00000316032:p.His694Asn		3701029	NM_005387	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	3.896	-0.022987	0.07634	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.73	4.73	0.59995	.	0.270129	0.38720	N	0.001589	T	0.27384	0.0672	N	0.25647	0.755	0.31288	N	0.689746	B;P;B;B	0.35363	0.013;0.497;0.098;0.098	B;B;B;B	0.33254	0.003;0.16;0.013;0.023	T	0.21793	-1.0235	9	0.17832	T	0.49	.	11.8839	0.52592	0.0:0.0:0.8256:0.1744	.	711;694;694;694	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	N	694;694;694;694;711	.	ENSP00000316032:H694N	H	-	1	0	NUP98	3701029	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	3.431000	0.52814	2.185000	0.69588	0.585000	0.79938	CAT		0.423	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
OR52B4	143496	broad.mit.edu	37	11	4388705	4388705	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:4388705A>G	ENST00000408920.2	-	1	911	c.821T>C	c.(820-822)aTc>aCc	p.I274T		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	274					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.I274T(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)		CGGGATGTGGATACAAGGTGG	0.468																																					p.I274T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T821C	11						.						117.0	124.0	122.0					11																	4388705		2030	4178	6208	4345281	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.821T>C	11.37:g.4388705A>G	ENSP00000386160:p.Ile274Thr		4345281	NM_001005161	A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	A	1.515	-0.548427	0.04024	.	.	ENSG00000221996	ENST00000408920	T	0.00115	8.71	4.97	0.968	0.19680	GPCR, rhodopsin-like superfamily (1);	0.765671	0.11565	N	0.551363	T	0.00109	0.0003	L	0.28115	0.83	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.09037	-1.0693	10	0.44086	T	0.13	.	8.836	0.35113	0.4964:0.0:0.5036:0.0	.	274	Q8NGK2	O52B4_HUMAN	T	274	ENSP00000386160:I274T	ENSP00000386160:I274T	I	-	2	0	OR52B4	4345281	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.097000	0.15168	0.014000	0.14944	0.459000	0.35465	ATC		0.468	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161	
OR51F1	256892	broad.mit.edu	37	11	4790307	4790307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:4790307C>T	ENST00000380383.1	-	1	861	c.862G>A	c.(862-864)Gta>Ata	p.V288I	OR51F1_ENST00000343430.3_Missense_Mutation_p.V281I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281I(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCAGGTATACATTAGCCATC	0.483																																					p.V281I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841A	11						.						105.0	98.0	100.0					11																	4790307		2201	4298	6499	4746883	SO:0001583	missense	256892	exon1			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.862G>A	11.37:g.4790307C>T	ENSP00000369744:p.Val288Ile		4746883	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	C	1.731	-0.494039	0.04322	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00130	8.69;8.69	5.43	-4.3	0.03710	GPCR, rhodopsin-like superfamily (1);	0.445330	0.20312	N	0.094815	T	0.00039	0.0001	N	0.03253	-0.375	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.29518	-1.0009	10	0.06625	T	0.88	.	9.1441	0.36921	0.0:0.5063:0.1072:0.3865	.	288	A6NGY5	O51F1_HUMAN	I	281;288	ENSP00000345163:V281I;ENSP00000369744:V288I	ENSP00000345163:V281I	V	-	1	0	OR51F1	4746883	0.000000	0.05858	0.026000	0.17262	0.634000	0.38068	-3.047000	0.00630	-1.028000	0.03321	-0.136000	0.14681	GTA		0.483	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752	
OR51A7	119687	broad.mit.edu	37	11	4929300	4929300	+	Missense_Mutation	SNP	T	T	C	rs145293740		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:4929300T>C	ENST00000359350.4	+	1	701	c.701T>C	c.(700-702)cTt>cCt	p.L234P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L234P(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGAGGCTTAAGGCCCTA	0.468																																					p.L234P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T701C	11						.						237.0	205.0	216.0					11																	4929300		2201	4298	6499	4885876	SO:0001583	missense	119687	exon1			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.701T>C	11.37:g.4929300T>C	ENSP00000352305:p.Leu234Pro		4885876	NM_001004749	Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	T	2.286	-0.363684	0.05103	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.72282	-0.64	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.348680	0.20897	N	0.083708	T	0.76271	0.3964	M	0.92026	3.265	0.09310	N	0.999999	B	0.24533	0.105	B	0.29862	0.108	T	0.71928	-0.4444	10	0.66056	D	0.02	.	8.9639	0.35865	0.0:0.0868:0.0:0.9132	.	234	Q8NH64	O51A7_HUMAN	P	234;234;223	ENSP00000352305:L234P	ENSP00000352305:L234P	L	+	2	0	OR51A7	4885876	0.000000	0.05858	0.258000	0.24420	0.045000	0.14185	-0.168000	0.09925	2.098000	0.63641	0.533000	0.62120	CTT		0.468	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749	
MMP26	56547	broad.mit.edu	37	11	5011093	5011093	+	Silent	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:5011093T>G	ENST00000380390.1	+	3	531	c.315T>G	c.(313-315)acT>acG	p.T105T	MMP26_ENST00000300762.1_Silent_p.T105T			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	105					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T105T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ACACTCTAACTTACAGGTGCT	0.522																																					p.T105T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T315G	11						.						52.0	45.0	47.0					11																	5011093		2201	4298	6499	4967669	SO:0001819	synonymous_variant	56547	exon2			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.315T>G	11.37:g.5011093T>G			4967669	NM_021801	Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	CCDS7752.1																																																																																				0.522	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	
OR51B5	282763	broad.mit.edu	37	11	5364535	5364535	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:5364535T>C	ENST00000300773.2	-	1	274	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	74					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.T74A(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTGTGGTCAGGGCCAGC	0.542																																					p.T74A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A220G	11						.						45.0	48.0	47.0					11																	5364535		2201	4297	6498	5321111	SO:0001583	missense	282763	exon1			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.220A>G	11.37:g.5364535T>C	ENSP00000300773:p.Thr74Ala		5321111	NM_001005567	B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683347	0.29872	.	.	ENSG00000242180	ENST00000300773	T	0.00289	8.28	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.184940	0.26268	N	0.025345	T	0.00210	0.0006	L	0.39898	1.24	0.09310	N	1	B	0.20368	0.044	B	0.24848	0.056	T	0.39522	-0.9610	10	0.46703	T	0.11	.	9.3458	0.38107	0.1604:0.0:0.0:0.8396	.	74	Q9H339	O51B5_HUMAN	A	74	ENSP00000300773:T74A	ENSP00000300773:T74A	T	-	1	0	OR51B5	5321111	0.000000	0.05858	0.060000	0.19600	0.835000	0.47333	-0.615000	0.05597	2.017000	0.59298	0.529000	0.55759	ACC		0.542	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567	
OR52N1	79473	broad.mit.edu	37	11	5810007	5810007	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:5810007A>C	ENST00000317078.1	-	1	39	c.40T>G	c.(40-42)Ttc>Gtc	p.F14V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F14V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTAGGATGAATGAAGCTGGA	0.433																																					p.F14V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T40G	11						.						74.0	68.0	70.0					11																	5810007		2201	4296	6497	5766583	SO:0001583	missense	79473	exon1			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.40T>G	11.37:g.5810007A>C	ENSP00000322823:p.Phe14Val		5766583	NM_001001913	Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169731	0.57584	.	.	ENSG00000181001	ENST00000317078	T	0.00545	6.67	4.05	4.05	0.47172	.	0.000000	0.52532	D	0.000070	T	0.01940	0.0061	M	0.92169	3.28	0.27320	N	0.957078	P	0.43287	0.802	P	0.49451	0.611	T	0.01720	-1.1288	10	0.87932	D	0	.	12.7891	0.57522	1.0:0.0:0.0:0.0	.	14	Q8NH53	O52N1_HUMAN	V	14	ENSP00000322823:F14V	ENSP00000322823:F14V	F	-	1	0	OR52N1	5766583	0.998000	0.40836	0.999000	0.59377	0.972000	0.66771	5.770000	0.68873	2.041000	0.60428	0.491000	0.48974	TTC		0.433	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913	
ARFIP2	23647	broad.mit.edu	37	11	6500146	6500146	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:6500146C>A	ENST00000254584.2	-	5	442	c.359G>T	c.(358-360)cGg>cTg	p.R120L	ARFIP2_ENST00000396777.3_Missense_Mutation_p.R120L|ARFIP2_ENST00000525235.1_Missense_Mutation_p.R120L|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R35L|TIMM10B_ENST00000472836.1_5'Flank|TIMM10B_ENST00000530751.1_5'Flank|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R82L|TIMM10B_ENST00000254616.6_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	120					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)	p.R120L(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTCCACAGTCCGTGAGCCTCG	0.547																																					p.R120L	Melanoma(119;796 1674 9049 20480 24794)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359T	11						.						84.0	61.0	69.0					11																	6500146		2201	4296	6497	6456722	SO:0001583	missense	23647	exon5			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.359G>T	11.37:g.6500146C>A	ENSP00000254584:p.Arg120Leu		6456722	NM_012402	B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721366	0.89298	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813;ENST00000525235	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.85	5.85	0.93711	Arfaptin-like (2);	0.054173	0.64402	D	0.000001	D	0.86142	0.5862	M	0.78456	2.415	0.80722	D	1	P;P;P	0.51240	0.943;0.69;0.855	P;P;P	0.54590	0.756;0.605;0.59	D	0.85379	0.1118	10	0.45353	T	0.12	.	19.751	0.96268	0.0:1.0:0.0:0.0	.	153;35;120	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	L	120;120;35;82;120	ENSP00000254584:R120L;ENSP00000379998:R120L;ENSP00000391427:R35L;ENSP00000398375:R82L;ENSP00000434124:R120L	ENSP00000254584:R120L	R	-	2	0	ARFIP2	6456722	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.050000	0.71063	2.779000	0.95612	0.491000	0.48974	CGG		0.547	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402	
DNHD1	144132	broad.mit.edu	37	11	6519813	6519813	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:6519813A>G	ENST00000527990.2	+	1	368	c.368A>G	c.(367-369)cAt>cGt	p.H123R	DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000254579.6_Missense_Mutation_p.H123R|DNHD1_ENST00000354685.3_Missense_Mutation_p.H123R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	123					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.H123R(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCACCTCCATCTGGACCTG	0.572																																					p.H123R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A368G	11						.						138.0	130.0	133.0					11																	6519813		2201	4296	6497	6476389	SO:0001583	missense	144132	exon3			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.368A>G	11.37:g.6519813A>G	ENSP00000436180:p.His123Arg		6476389	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	5.341	0.248276	0.10130	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.25579	1.79;2.79;1.79	5.48	4.15	0.48705	.	1.449870	0.03885	N	0.277731	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B;B	0.22003	0.063;0.063	B;B	0.21917	0.016;0.037	T	0.17107	-1.0380	10	0.13470	T	0.59	.	9.4669	0.38817	0.9034:0.0:0.0966:0.0	.	123;123	Q96M86;Q96M86-4	DNHD1_HUMAN;.	R	123	ENSP00000254579:H123R;ENSP00000346716:H123R;ENSP00000436180:H123R	ENSP00000254579:H123R	H	+	2	0	DNHD1	6476389	0.483000	0.25956	0.719000	0.30619	0.179000	0.23085	2.956000	0.49129	2.076000	0.62316	0.460000	0.39030	CAT		0.572	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
OLFML1	283298	broad.mit.edu	37	11	7531408	7531408	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:7531408C>A	ENST00000329293.3	+	3	1592	c.1198C>A	c.(1198-1200)Cct>Act	p.P400T	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.P400T	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	400						extracellular region (GO:0005576)		p.P400T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GAGAAAGCTGCCTCTGAAGTA	0.453																																					p.P400T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198A	11						.						27.0	25.0	26.0					11																	7531408		2197	4280	6477	7487984	SO:0001583	missense	283298	exon3			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1198C>A	11.37:g.7531408C>A	ENSP00000332511:p.Pro400Thr		7487984	NM_198474	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017161	0.07959	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.87650	-2.28;-2.28	4.99	1.91	0.25777	.	0.929652	0.09275	N	0.824618	T	0.81550	0.4846	L	0.46157	1.445	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.22601	0.025;0.04	T	0.71185	-0.4667	10	0.66056	D	0.02	.	5.4955	0.16799	0.0:0.6534:0.163:0.1836	.	264;400	B4DN61;Q6UWY5	.;OLFL1_HUMAN	T	400	ENSP00000433455:P400T;ENSP00000332511:P400T	ENSP00000332511:P400T	P	+	1	0	OLFML1	7487984	0.026000	0.19158	0.669000	0.29828	0.233000	0.25261	0.026000	0.13599	0.679000	0.31345	0.563000	0.77884	CCT		0.453	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474	
NLRP10	338322	broad.mit.edu	37	11	7981473	7981473	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:7981473A>C	ENST00000328600.2	-	2	1847	c.1686T>G	c.(1684-1686)gaT>gaG	p.D562E		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	562					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.D562E(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)		AGAATTCCAAATCCCAGGTCC	0.358																																					p.D562E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1686G	11						.						59.0	62.0	61.0					11																	7981473		2201	4296	6497	7938049	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.1686T>G	11.37:g.7981473A>C	ENSP00000327763:p.Asp562Glu		7938049	NM_176821	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	4.256	0.046528	0.08243	.	.	ENSG00000182261	ENST00000328600	D	0.87412	-2.25	3.91	-4.4	0.03600	.	0.211578	0.23955	N	0.042918	T	0.67277	0.2876	L	0.29908	0.895	0.23449	N	0.997656	B	0.17465	0.022	B	0.23574	0.047	T	0.60052	-0.7338	10	0.02654	T	1	.	0.7864	0.01049	0.2346:0.3253:0.1195:0.3207	.	562	Q86W26	NAL10_HUMAN	E	562	ENSP00000327763:D562E	ENSP00000327763:D562E	D	-	3	2	NLRP10	7938049	0.002000	0.14202	0.862000	0.33874	0.290000	0.27261	-1.344000	0.02639	-0.504000	0.06577	0.460000	0.39030	GAT		0.358	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
SCUBE2	57758	broad.mit.edu	37	11	9096134	9096134	+	Silent	SNP	G	G	A	rs368262750		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:9096134G>A	ENST00000309263.3	-	4	483	c.411C>T	c.(409-411)ggC>ggT	p.G137G	SCUBE2_ENST00000520467.1_Silent_p.G137G|SCUBE2_ENST00000450649.2_Silent_p.G137G|SCUBE2_ENST00000457346.2_Silent_p.G137G			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	137	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G137G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCTGGCAGCCGCCATTGTTCT	0.552																																					p.G137G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	11						.	A	,	0,4402		0,0,2201	157.0	144.0	148.0		411,411	-8.8	0.8	11		148	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	SCUBE2	NM_001170690.1,NM_020974.2	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	137/808,137/972	9096134	1,12993	2201	4296	6497	9052710	SO:0001819	synonymous_variant	57758	exon4			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.411C>T	11.37:g.9096134G>A			9052710	NM_020974	Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37																																																																																					0.552	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
ABCC8	6833	broad.mit.edu	37	11	17452471	17452471	+	Silent	SNP	G	G	A	rs147623093	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:17452471G>A	ENST00000389817.3	-	12	1775	c.1707C>T	c.(1705-1707)gcC>gcT	p.A569A	ABCC8_ENST00000302539.4_Silent_p.A569A|ABCC8_ENST00000528202.1_5'UTR			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	569	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.A569A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCGAGAAGTCGGCCTCTTTGA	0.597													G|||	5	0.000998403	0.0	0.0058	5008	,	,		20502	0.0		0.001	False		,,,				2504	0.0				p.A569A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1707T	11						.	G		0,4400		0,0,2200	93.0	84.0	87.0		1707	-6.3	0.5	11	dbSNP_134	87	13,8573	9.8+/-36.6	0,13,4280	no	coding-synonymous	ABCC8	NM_000352.3		0,13,6480	AA,AG,GG		0.1514,0.0,0.1001		569/1582	17452471	13,12973	2200	4293	6493	17409047	SO:0001819	synonymous_variant	6833	exon12			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1707C>T	11.37:g.17452471G>A			17409047	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	CCDS31437.1																																																																																				0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
MRGPRX3	117195	broad.mit.edu	37	11	18159588	18159588	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:18159588A>G	ENST00000396275.2	+	3	1200	c.839A>G	c.(838-840)cAg>cGg	p.Q280R		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q280R(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCTTTAGGCAGCGTCAAAAT	0.507																																					p.Q280R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A839G	11						.						59.0	63.0	61.0					11																	18159588		2200	4290	6490	18116164	SO:0001583	missense	117195	exon3				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.839A>G	11.37:g.18159588A>G	ENSP00000379571:p.Gln280Arg		18116164	NM_054031	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	A	8.800	0.932768	0.18131	.	.	ENSG00000179826	ENST00000396275	T	0.20881	2.04	1.43	1.43	0.22495	.	0.600102	0.15777	N	0.245114	T	0.10551	0.0258	N	0.20357	0.565	0.09310	N	1	B	0.29085	0.232	B	0.29598	0.104	T	0.28138	-1.0053	10	0.20046	T	0.44	.	4.9717	0.14119	1.0:0.0:0.0:0.0	.	280	Q96LB0	MRGX3_HUMAN	R	280	ENSP00000379571:Q280R	ENSP00000379571:Q280R	Q	+	2	0	MRGPRX3	18116164	.	.	0.066000	0.19879	0.049000	0.14656	.	.	0.909000	0.36697	0.347000	0.21830	CAG		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	
E2F8	79733	broad.mit.edu	37	11	19251514	19251514	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:19251514T>G	ENST00000527884.1	-	10	1612	c.1380A>C	c.(1378-1380)aaA>aaC	p.K460N	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.K460N	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	460				K -> R (in Ref. 1; BAB15605). {ECO:0000305}.	cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K460N(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCTGTACTTTCACTTTCT	0.478																																					p.K460N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1380C	11						.						125.0	137.0	133.0					11																	19251514		2199	4293	6492	19208090	SO:0001583	missense	79733	exon10				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1380A>C	11.37:g.19251514T>G	ENSP00000434199:p.Lys460Asn		19208090	NM_024680	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253640	0.39797	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.20463	2.07;2.07	5.63	3.28	0.37604	.	0.391846	0.28354	N	0.015645	T	0.25269	0.0614	M	0.64997	1.995	0.32264	N	0.569751	P	0.48089	0.905	P	0.46758	0.526	T	0.29761	-1.0001	10	0.46703	T	0.11	-6.946	7.2803	0.26308	0.0:0.074:0.145:0.781	.	460	A0AVK6	E2F8_HUMAN	N	460	ENSP00000434199:K460N;ENSP00000250024:K460N	ENSP00000250024:K460N	K	-	3	2	E2F8	19208090	0.971000	0.33674	0.026000	0.17262	0.986000	0.74619	1.713000	0.37951	0.401000	0.25424	0.533000	0.62120	AAA		0.478	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680	
FANCF	2188	broad.mit.edu	37	11	22646498	22646498	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:22646498A>G	ENST00000327470.3	-	1	889	c.859T>C	c.(859-861)Tat>Cat	p.Y287H	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	287					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.Y287H(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TGAAGGTCATAGTGCAAACGT	0.557			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y287H		yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T859C	11						.						62.0	66.0	64.0					11																	22646498		2203	4300	6503	22603074	SO:0001583	missense	2188	exon1	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.859T>C	11.37:g.22646498A>G	ENSP00000330875:p.Tyr287His	757	22603074	NM_022725	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038754	0.75617	.	.	ENSG00000183161	ENST00000327470	T	0.33438	1.41	5.41	5.41	0.78517	.	0.258884	0.32935	U	0.005471	T	0.41305	0.1153	L	0.58101	1.795	0.36992	D	0.89482	D	0.57899	0.981	P	0.54210	0.745	T	0.52495	-0.8568	10	0.87932	D	0	-10.3163	9.3992	0.38422	0.9208:0.0:0.0792:0.0	.	287	Q9NPI8	FANCF_HUMAN	H	287	ENSP00000330875:Y287H	ENSP00000330875:Y287H	Y	-	1	0	FANCF	22603074	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	3.848000	0.55903	2.271000	0.75665	0.459000	0.35465	TAT		0.557	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725	
CCDC34	91057	broad.mit.edu	37	11	27362287	27362287	+	Missense_Mutation	SNP	C	C	T	rs200503881		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:27362287C>T	ENST00000328697.6	-	5	1536	c.863G>A	c.(862-864)cGt>cAt	p.R288H	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	288								p.R288H(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TGCAGCTGGACGAGGTTTATG	0.348																																					p.R288H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863A	11						.	C	HIS/ARG	0,4404		0,0,2202	217.0	197.0	204.0		863	5.2	1.0	11		204	1,8597	1.2+/-3.3	0,1,4298	no	missense	CCDC34	NM_030771.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	288/374	27362287	1,13001	2202	4299	6501	27318863	SO:0001583	missense	91057	exon5			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.863G>A	11.37:g.27362287C>T	ENSP00000330240:p.Arg288His		27318863	NM_030771	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136141	0.77662	0.0	1.16E-4	ENSG00000109881	ENST00000328697	T	0.25414	1.8	6.07	5.16	0.70880	.	0.139869	0.43747	D	0.000524	T	0.46347	0.1388	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	T	0.47774	-0.9091	10	0.87932	D	0	0.0813	15.6148	0.76756	0.1385:0.8615:0.0:0.0	.	288	Q96HJ3	CCD34_HUMAN	H	288	ENSP00000330240:R288H	ENSP00000330240:R288H	R	-	2	0	CCDC34	27318863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.859000	0.48364	1.566000	0.49654	0.655000	0.94253	CGT		0.348	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	
BDNF	627	broad.mit.edu	37	11	27679711	27679711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:27679711C>T	ENST00000525528.1	-	1	1494	c.401G>A	c.(400-402)cGc>cAc	p.R134H	BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.R142H|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.R149H|BDNF_ENST00000525950.1_Missense_Mutation_p.R134H|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.R134H|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.R216H|BDNF_ENST00000533246.1_Missense_Mutation_p.R134H|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.R134H|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.R134H|BDNF_ENST00000395981.3_Missense_Mutation_p.R134H|BDNF_ENST00000418212.1_Missense_Mutation_p.R134H|BDNF_ENST00000532997.1_Missense_Mutation_p.R134H|BDNF_ENST00000395978.3_Missense_Mutation_p.R134H|BDNF_ENST00000395980.2_Missense_Mutation_p.R134H|BDNF_ENST00000420794.1_Missense_Mutation_p.R134H|BDNF_ENST00000533131.1_Missense_Mutation_p.R134H|BDNF_ENST00000439476.2_Missense_Mutation_p.R134H	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	134					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)	p.R142H(1)		breast(1)|large_intestine(3)|lung(2)	6						CTCCCCTCGGCGGGCAGGGTC	0.552																																					p.R134H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G401A	11						.						95.0	93.0	94.0					11																	27679711		2202	4299	6501	27636287	SO:0001583	missense	627	exon2			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.401G>A	11.37:g.27679711C>T	ENSP00000437138:p.Arg134His		27636287	NM_001143805	A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887816	0.52014	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	6.07	6.07	0.98685	Nerve growth factor-related (4);	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	N	0.12887	0.27	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.982;0.989;0.994;0.989	T	0.76369	-0.2984	10	0.87932	D	0	-35.9654	20.6525	0.99598	0.0:1.0:0.0:0.0	.	163;216;142;134;149	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	H	134;134;149;134;134;134;134;134;134;216;134;134;134;134;134;142;134;134	ENSP00000389345:R134H;ENSP00000437138:R134H;ENSP00000379309:R149H;ENSP00000432727:R134H;ENSP00000349084:R134H;ENSP00000400502:R134H;ENSP00000432376:R134H;ENSP00000435564:R134H;ENSP00000379307:R134H;ENSP00000414303:R216H;ENSP00000379304:R134H;ENSP00000435805:R134H;ENSP00000379305:R134H;ENSP00000379302:R134H;ENSP00000432035:R134H;ENSP00000320002:R142H;ENSP00000389564:R134H	ENSP00000320002:R142H	R	-	2	0	BDNF	27636287	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	2.890000	0.99128	0.585000	0.79938	CGC		0.552	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735	
METTL15	196074	broad.mit.edu	37	11	28318302	28318302	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:28318302A>G	ENST00000407364.3	+	6	954	c.602A>G	c.(601-603)tAc>tGc	p.Y201C	METTL15_ENST00000303459.6_Missense_Mutation_p.Y201C|METTL15_ENST00000406787.3_Intron|METTL15_ENST00000342303.5_Missense_Mutation_p.Y201C			A6NJ78	MET15_HUMAN	methyltransferase like 15	201							methyltransferase activity (GO:0008168)	p.Y201C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						GTGCGTAGGTACCCTGACATG	0.448																																					p.Y201C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A602G	11						.						132.0	110.0	117.0					11																	28318302		2202	4299	6501	28274878	SO:0001583	missense	196074	exon6			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.602A>G	11.37:g.28318302A>G	ENSP00000384369:p.Tyr201Cys		28274878	NM_152636	A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.661871	0.29515	.	.	ENSG00000169519	ENST00000342303;ENST00000407364;ENST00000303459	T;T;T	0.30981	1.51;1.93;1.51	5.32	4.2	0.49525	S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);	0.196102	0.46442	N	0.000297	T	0.24160	0.0585	L	0.42245	1.32	0.80722	D	1	B;B	0.19817	0.024;0.039	B;B	0.20184	0.026;0.028	T	0.04767	-1.0928	9	.	.	.	.	9.0439	0.36333	0.8448:0.0:0.1552:0.0	.	201;201	A6NJ78;A6NJ78-2	MET15_HUMAN;.	C	201	ENSP00000342259:Y201C;ENSP00000384369:Y201C;ENSP00000307251:Y201C	.	Y	+	2	0	METTL15	28274878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.905000	0.69893	0.851000	0.35264	0.528000	0.53228	TAC		0.448	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636	
KCNA4	3739	broad.mit.edu	37	11	30032919	30032919	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:30032919T>C	ENST00000328224.6	-	2	2540	c.1307A>G	c.(1306-1308)cAg>cGg	p.Q436R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	436	Poly-Gln.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.Q436R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GGACATGGCCTGCTGCTGCTG	0.532																																					p.Q436R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1307G	11						.						73.0	71.0	72.0					11																	30032919		2083	4231	6314	29989495	SO:0001583	missense	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1307A>G	11.37:g.30032919T>C	ENSP00000328511:p.Gln436Arg		29989495	NM_002233		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231908	0.58777	.	.	ENSG00000182255	ENST00000328224	D	0.98455	-4.94	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96562	0.8878	L	0.53561	1.675	0.80722	D	1	B	0.25809	0.135	B	0.23852	0.049	D	0.95692	0.8741	10	0.59425	D	0.04	.	14.4197	0.67175	0.0:0.0:0.0:1.0	.	436	P22459	KCNA4_HUMAN	R	436	ENSP00000328511:Q436R	ENSP00000328511:Q436R	Q	-	2	0	KCNA4	29989495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.805000	0.86005	2.001000	0.58596	0.528000	0.53228	CAG		0.532	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
HIPK3	10114	broad.mit.edu	37	11	33358677	33358677	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:33358677T>C	ENST00000303296.4	+	4	1583	c.1278T>C	c.(1276-1278)ggT>ggC	p.G426G	HIPK3_ENST00000379016.3_Silent_p.G426G|HIPK3_ENST00000456517.1_Silent_p.G426G|HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000525975.1_Silent_p.G426G	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G426G(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TAAATGTGGGTACTAAATCCA	0.303																																					p.G426G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1278C	11						.						79.0	79.0	79.0					11																	33358677		2201	4295	6496	33315253	SO:0001819	synonymous_variant	10114	exon4			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1278T>C	11.37:g.33358677T>C			33315253	NM_001048200	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.303	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
PAMR1	25891	broad.mit.edu	37	11	35454275	35454275	+	Missense_Mutation	SNP	C	C	A	rs193167829		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:35454275C>A	ENST00000378880.2	-	11	2237	c.1792G>T	c.(1792-1794)Gtg>Ttg	p.V598L	PAMR1_ENST00000278360.3_Missense_Mutation_p.V615L|PAMR1_ENST00000378878.3_Missense_Mutation_p.V487L|PAMR1_ENST00000532848.1_Missense_Mutation_p.V558L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	598	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.V615L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGCCAGCCACAGTGATGTGG	0.607																																					p.V598L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1792T	11						.						70.0	60.0	64.0					11																	35454275		2202	4298	6500	35410851	SO:0001583	missense	25891	exon11				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1792G>T	11.37:g.35454275C>A	ENSP00000368158:p.Val598Leu		35410851	NM_001001991	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001218	0.54254	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.47	4.45	0.53987	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.182328	0.48286	D	0.000182	D	0.89396	0.6703	M	0.69248	2.105	0.48901	D	0.999727	P;B;B	0.43431	0.807;0.007;0.208	B;B;B	0.34301	0.079;0.034;0.179	D	0.89235	0.3580	10	0.87932	D	0	.	7.2706	0.26254	0.0:0.7436:0.0:0.2564	.	487;598;615	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	L	615;598;487;558;575	ENSP00000278360:V615L;ENSP00000368158:V598L;ENSP00000368156:V487L;ENSP00000433868:V558L;ENSP00000432591:V575L	ENSP00000278360:V615L	V	-	1	0	PAMR1	35410851	0.993000	0.37304	0.973000	0.42090	0.827000	0.46813	2.897000	0.48664	2.575000	0.86900	0.561000	0.74099	GTG		0.607	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
LRP4	4038	broad.mit.edu	37	11	46911843	46911843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:46911843C>T	ENST00000378623.1	-	14	2142	c.1900G>A	c.(1900-1902)Gct>Act	p.A634T		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	634					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.A634T(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTAATGACAGCCTTACGGTGA	0.582											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A634T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1900A	11						.						112.0	87.0	96.0					11																	46911843		2201	4299	6500	46868419	SO:0001583	missense	4038	exon14			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1900G>A	11.37:g.46911843C>T	ENSP00000367888:p.Ala634Thr	942	46868419	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228848	0.79576	.	.	ENSG00000134569	ENST00000378623	D	0.95001	-3.58	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	N	0.05050	-0.12	0.80722	D	1	B	0.20780	0.048	B	0.25140	0.058	T	0.82954	-0.0201	10	0.12766	T	0.61	.	20.0529	0.97634	0.0:1.0:0.0:0.0	.	634	O75096	LRP4_HUMAN	T	634	ENSP00000367888:A634T	ENSP00000367888:A634T	A	-	1	0	LRP4	46868419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.814000	0.96858	0.591000	0.81541	GCT		0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
ARFGAP2	84364	broad.mit.edu	37	11	47189787	47189787	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:47189787G>A	ENST00000524782.1	-	11	1185	c.957C>T	c.(955-957)tcC>tcT	p.S319S	ARFGAP2_ENST00000426335.2_Silent_p.S183S|ARFGAP2_ENST00000419701.2_Silent_p.S212S|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Silent_p.S50S|RP11-390K5.6_ENST00000524412.1_RNA	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	319	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S319S(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGACAGCACGGAGTGGGAGA	0.542																																					p.S319S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T	11						.						91.0	83.0	86.0					11																	47189787		2201	4299	6500	47146363	SO:0001819	synonymous_variant	84364	exon11			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.957C>T	11.37:g.47189787G>A			47146363	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Silent	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829722	0.16749	.	.	ENSG00000149182	ENST00000527776	.	.	.	6.17	-0.728	0.11162	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	-8.938	0.0736	0.00025	0.2878:0.2335:0.2126:0.2661	.	.	.	.	C	41	.	.	R	-	1	0	ARFGAP2	47146363	0.000000	0.05858	0.985000	0.45067	0.878000	0.50629	-4.499000	0.00224	-0.396000	0.07703	-0.211000	0.12701	CGT		0.542	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389	
MADD	8567	broad.mit.edu	37	11	47306669	47306669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:47306669delT	ENST00000311027.5	+	13	2500	c.2335delT	c.(2335-2337)tttfs	p.F779fs	MADD_ENST00000395344.3_Intron|MADD_ENST00000395336.3_Frame_Shift_Del_p.F779fs|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Frame_Shift_Del_p.F779fs|MADD_ENST00000402192.2_Frame_Shift_Del_p.F779fs|MADD_ENST00000407859.3_Intron|MADD_ENST00000349238.3_Frame_Shift_Del_p.F779fs	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.P781fs*34(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCAATATGGCTTTCCCCCTGA	0.537																																					p.F779fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2335delT	11						.						77.0	74.0	75.0					11																	47306669		2201	4298	6499	47263245	SO:0001589	frameshift_variant	8567	exon13			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2335delT	11.37:g.47306669delT	ENSP00000310933:p.Phe779fs		47263245	NM_003682		Frame_Shift_Del	DEL	ENST00000311027.5	37	CCDS7930.1																																																																																				0.537	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MYBPC3	4607	broad.mit.edu	37	11	47371422	47371422	+	Missense_Mutation	SNP	G	G	A	rs397516058		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:47371422G>A	ENST00000545968.1	-	5	611	c.557C>T	c.(556-558)cCg>cTg	p.P186L	MYBPC3_ENST00000256993.4_Missense_Mutation_p.P186L|MYBPC3_ENST00000399249.2_Missense_Mutation_p.P186L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	186	Ig-like C2-type 1.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P186L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GACCACAGGCGGCTTCAGGAG	0.672																																					p.P186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	11						.						29.0	35.0	33.0					11																	47371422		2070	4197	6267	47327998	SO:0001583	missense	4607	exon5			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.557C>T	11.37:g.47371422G>A	ENSP00000442795:p.Pro186Leu		47327998	NM_000256	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727859	0.69074	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67171	-0.25;-0.25;-0.25	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61664	0.2365	N	0.22421	0.69	0.58432	D	0.999999	D	0.55800	0.973	P	0.51806	0.68	T	0.65965	-0.6040	9	0.72032	D	0.01	.	11.6311	0.51175	0.0:0.0:0.6957:0.3043	.	186	Q14896	MYPC3_HUMAN	L	186	ENSP00000442795:P186L;ENSP00000382193:P186L;ENSP00000256993:P186L	ENSP00000256993:P186L	P	-	2	0	MYBPC3	47327998	1.000000	0.71417	0.712000	0.30502	0.880000	0.50808	6.945000	0.75947	2.385000	0.81259	0.462000	0.41574	CCG		0.672	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
FNBP4	23360	broad.mit.edu	37	11	47767769	47767769	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:47767769C>T	ENST00000263773.5	-	7	1096	c.1084G>A	c.(1084-1086)Gta>Ata	p.V362I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	362						nucleus (GO:0005634)		p.V362I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTTCTTCTACTGTTGTACTT	0.373																																					p.V362I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	11						.						238.0	236.0	236.0					11																	47767769		1855	4097	5952	47724345	SO:0001583	missense	23360	exon7			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1084G>A	11.37:g.47767769C>T	ENSP00000263773:p.Val362Ile		47724345	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330573	0.24167	.	.	ENSG00000109920	ENST00000263773	T	0.32272	1.46	6.17	-0.551	0.11822	.	1.485520	0.03572	N	0.228783	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16041	-1.0416	10	0.27785	T	0.31	-0.405	2.0026	0.03471	0.2325:0.4632:0.1128:0.1915	.	362	Q8N3X1	FNBP4_HUMAN	I	362	ENSP00000263773:V362I	ENSP00000263773:V362I	V	-	1	0	FNBP4	47724345	0.000000	0.05858	0.003000	0.11579	0.986000	0.74619	0.410000	0.21098	0.160000	0.19432	-0.136000	0.14681	GTA		0.373	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		
OR4B1	119765	broad.mit.edu	37	11	48239092	48239092	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:48239092T>C	ENST00000309562.2	+	1	749	c.731T>C	c.(730-732)gTg>gCg	p.V244A		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V244A(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACATCACAGTGGTCATCTTG	0.463																																					p.V244A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T731C	11						.						155.0	120.0	132.0					11																	48239092		2201	4298	6499	48195668	SO:0001583	missense	119765	exon1			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.731T>C	11.37:g.48239092T>C	ENSP00000311605:p.Val244Ala		48195668	NM_001005470	Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312834	0.40895	.	.	ENSG00000175619	ENST00000309562	T	0.00237	8.47	5.48	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000182	T	0.00328	0.0010	M	0.72624	2.21	0.32714	N	0.511225	P	0.37083	0.581	P	0.45946	0.498	T	0.42224	-0.9464	10	0.62326	D	0.03	.	10.0468	0.42192	0.1511:0.0:0.0:0.8489	.	244	Q8NGF8	OR4B1_HUMAN	A	244	ENSP00000311605:V244A	ENSP00000311605:V244A	V	+	2	0	OR4B1	48195668	0.018000	0.18449	0.894000	0.35097	0.240000	0.25518	0.677000	0.25262	0.891000	0.36235	0.400000	0.26472	GTG		0.463	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470	
OR10AG1	282770	broad.mit.edu	37	11	55735229	55735229	+	Silent	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:55735229T>A	ENST00000312345.2	-	1	761	c.711A>T	c.(709-711)atA>atT	p.I237I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I237I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGATTACAACTATTAGGTGAG	0.388																																					p.I237I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A711T	11						.						67.0	66.0	66.0					11																	55735229		2201	4296	6497	55491805	SO:0001819	synonymous_variant	282770	exon1			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.711A>T	11.37:g.55735229T>A			55491805	NM_001005491	B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	CCDS31514.1																																																																																				0.388	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491	
OR5T2	219464	broad.mit.edu	37	11	56000604	56000604	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:56000604G>T	ENST00000313264.4	-	1	133	c.58C>A	c.(58-60)Cat>Aat	p.H20N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H20N(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAAAAGAATGAACAACACCA	0.333																																					p.H20N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58A	11						.						117.0	110.0	112.0					11																	56000604		2201	4296	6497	55757180	SO:0001583	missense	219464	exon1			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.58C>A	11.37:g.56000604G>T	ENSP00000323688:p.His20Asn		55757180	NM_001004746	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.775549	0.00640	.	.	ENSG00000181718	ENST00000313264	T	0.00651	5.97	2.78	-5.56	0.02529	.	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.18263	0.021	T	0.46062	-0.9218	9	0.66056	D	0.02	.	7.5474	0.27775	0.6841:0.0:0.1819:0.1339	.	20	Q8NGG2	OR5T2_HUMAN	N	20	ENSP00000323688:H20N	ENSP00000323688:H20N	H	-	1	0	OR5T2	55757180	0.003000	0.15002	0.000000	0.03702	0.100000	0.18952	-0.715000	0.04997	-1.679000	0.01452	0.458000	0.33432	CAT		0.333	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746	
OR5M3	219482	broad.mit.edu	37	11	56237701	56237701	+	Silent	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:56237701A>C	ENST00000312240.2	-	1	313	c.273T>G	c.(271-273)acT>acG	p.T91T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, 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.T91T(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AACCAGCATAAGTAATTGTTT	0.358																																					p.T91T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T273G	11						.						89.0	83.0	85.0					11																	56237701		2201	4295	6496	55994277	SO:0001819	synonymous_variant	219482	exon1			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.273T>G	11.37:g.56237701A>C			55994277	NM_001004742	B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	CCDS31532.1																																																																																				0.358	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
SSRP1	6749	broad.mit.edu	37	11	57095244	57095244	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:57095244G>A	ENST00000278412.2	-	14	1990	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M	TNKS1BP1_ENST00000358252.3_5'Flank|RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	575					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T575M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GGAAAGATCCGTGATGCTGAT	0.542																																					p.T575M	Colon(89;1000 1340 6884 23013 41819)											.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C1724T	11						.						171.0	169.0	170.0					11																	57095244		2201	4296	6497	56851820	SO:0001583	missense	6749	exon14			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1724C>T	11.37:g.57095244G>A	ENSP00000278412:p.Thr575Met		56851820	NM_003146	Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976283	0.92982	.	.	ENSG00000149136	ENST00000278412	D	0.98164	-4.76	5.8	5.8	0.92144	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99777	1.1026	10	0.62326	D	0.03	.	19.6492	0.95794	0.0:0.0:1.0:0.0	.	575	Q08945	SSRP1_HUMAN	M	575	ENSP00000278412:T575M	ENSP00000278412:T575M	T	-	2	0	SSRP1	56851820	1.000000	0.71417	0.968000	0.41197	0.979000	0.70002	9.177000	0.94849	2.737000	0.93849	0.655000	0.94253	ACG		0.542	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146	
P2RX3	5024	broad.mit.edu	37	11	57135570	57135570	+	Silent	SNP	C	C	T	rs200102602	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:57135570C>T	ENST00000263314.2	+	9	964	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	310					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.Y310Y(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGCTGGTATACGGGAATGTGA	0.577													C|||	77	0.0153754	0.0	0.0014	5008	,	,		20251	0.001		0.0	False		,,,				2504	0.0767				p.Y310Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930T	11						.	C		0,4402		0,0,2201	71.0	69.0	70.0		930	-8.7	0.3	11		70	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	P2RX3	NM_002559.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		310/398	57135570	1,12993	2201	4296	6497	56892146	SO:0001819	synonymous_variant	5024	exon9			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.930C>T	11.37:g.57135570C>T			56892146	NM_002559	Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624869	0.14193	0.0	1.16E-4	ENSG00000109991	ENST00000439993	.	.	.	6.08	-8.73	0.00841	.	.	.	.	.	T	0.66076	0.2753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74318	-0.3704	5	0.36615	T	0.2	-11.6274	17.7555	0.88447	0.0:0.2764:0.0:0.7236	.	.	.	.	M	310	.	ENSP00000400118:T310M	T	+	2	0	P2RX3	56892146	0.018000	0.18449	0.269000	0.24586	0.945000	0.59286	-1.456000	0.02377	-1.840000	0.01184	-0.768000	0.03414	ACG		0.577	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559	
FAM111A	63901	broad.mit.edu	37	11	58920196	58920196	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:58920196G>A	ENST00000528737.1	+	5	3873	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	FAM111A_ENST00000531147.1_Missense_Mutation_p.R352H|FAM111A_ENST00000361723.3_Missense_Mutation_p.R352H|FAM111A_ENST00000533703.1_Missense_Mutation_p.R352H|FAM111A_ENST00000420244.1_Missense_Mutation_p.R352H			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	352	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R352H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTTCTTGTACGTCTCAGTGAC	0.363																																					p.R352H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	11						.						83.0	85.0	84.0					11																	58920196		2201	4295	6496	58676772	SO:0001583	missense	63901	exon5			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1055G>A	11.37:g.58920196G>A	ENSP00000434435:p.Arg352His		58676772	NM_001142521	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	5.269	0.234984	0.09969	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.73	-8.53	0.00916	Peptidase cysteine/serine, trypsin-like (1);	3.882290	0.00166	N	0.000010	T	0.08670	0.0215	N	0.00332	-1.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27434	-1.0074	10	0.02654	T	1	10.0098	5.4554	0.16588	0.3276:0.1091:0.4575:0.1059	.	352	Q96PZ2	F111A_HUMAN	H	352	ENSP00000434435:R352H;ENSP00000406683:R352H;ENSP00000355264:R352H;ENSP00000433154:R352H;ENSP00000431631:R352H	ENSP00000355264:R352H	R	+	2	0	FAM111A	58676772	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.040000	0.01416	-1.914000	0.01078	-0.946000	0.02672	CGT		0.363	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074	
OR10V1	390201	broad.mit.edu	37	11	59480617	59480617	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:59480617C>T	ENST00000307552.2	-	1	720	c.702G>A	c.(700-702)ggG>ggA	p.G234G	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G234G(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CTTGCTGGCGCCCTTCTGCTG	0.502																																					p.G234G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G702A	11						.						87.0	79.0	82.0					11																	59480617		2201	4295	6496	59237193	SO:0001819	synonymous_variant	390201	exon1			AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.702G>A	11.37:g.59480617C>T			59237193	NM_001005324	Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	CCDS31565.1																																																																																				0.502	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324	
FADS3	3995	broad.mit.edu	37	11	61646029	61646029	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:61646029G>A	ENST00000278829.2	-	5	854	c.702C>T	c.(700-702)gaC>gaT	p.D234D	FADS3_ENST00000527697.1_Silent_p.D110D|FADS3_ENST00000525588.1_Silent_p.D206D|FADS3_ENST00000540820.1_Silent_p.D234D	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	234					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)	p.D234D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCGTCACGTCTGGGTCTT	0.662																																					p.D234D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C702T	11						.						129.0	119.0	123.0					11																	61646029		2202	4299	6501	61402605	SO:0001819	synonymous_variant	3995	exon5				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.702C>T	11.37:g.61646029G>A			61402605	NM_021727	O60426	Silent	SNP	ENST00000278829.2	37	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	g	1.045	-0.677591	0.03378	.	.	ENSG00000221968	ENST00000527379	.	.	.	4.51	-5.88	0.02290	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57063	-0.7875	4	.	.	.	-7.4635	12.3311	0.55039	0.5829:0.0:0.4171:0.0	.	.	.	.	M	9	.	.	T	-	2	0	FADS3	61402605	0.034000	0.19679	0.427000	0.26684	0.138000	0.21146	-0.915000	0.04033	-1.600000	0.01603	-3.260000	0.00049	ACG		0.662	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1		
AHNAK	79026	broad.mit.edu	37	11	62296010	62296010	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:62296010A>G	ENST00000378024.4	-	5	6153	c.5879T>C	c.(5878-5880)gTg>gCg	p.V1960A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1960					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V1960A(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACATCAGGCACCTCCACACC	0.507																																					p.V1960A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5879C	11						.						191.0	201.0	197.0					11																	62296010		2202	4299	6501	62052586	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5879T>C	11.37:g.62296010A>G	ENSP00000367263:p.Val1960Ala		62052586	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.339541	0.00017	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00840	5.63	3.2	-5.97	0.02227	.	.	.	.	.	T	0.00496	0.0016	N	0.11789	0.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46721	-0.9171	9	0.02654	T	1	.	6.5769	0.22571	0.2874:0.3589:0.3537:0.0	.	1960	Q09666	AHNK_HUMAN	A	49;1960	ENSP00000367263:V1960A	ENSP00000244934:V49A	V	-	2	0	AHNAK	62052586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.507000	0.00448	-0.951000	0.03654	-1.436000	0.01078	GTG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
B3GAT3	26229	broad.mit.edu	37	11	62384053	62384053	+	Silent	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:62384053G>T	ENST00000265471.5	-	4	1061	c.834C>A	c.(832-834)ggC>ggA	p.G278G	B3GAT3_ENST00000531383.1_Silent_p.G278G|B3GAT3_ENST00000534026.1_Silent_p.G278G	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	278					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.G278G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCTCCAGGTGGCCCCGGGGAG	0.597																																					p.G278G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834A	11						.						54.0	58.0	56.0					11																	62384053		2202	4299	6501	62140629	SO:0001819	synonymous_variant	26229	exon4			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.834C>A	11.37:g.62384053G>T			62140629	NM_012200	B7ZAB3|Q96I06|Q9UEP0	Silent	SNP	ENST00000265471.5	37	CCDS8025.1																																																																																				0.597	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200	
BSCL2	26580	broad.mit.edu	37	11	62459865	62459865	+	Silent	SNP	C	C	T	rs375554369		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:62459865C>T	ENST00000403550.1	-	6	1077	c.654G>A	c.(652-654)gcG>gcA	p.A218A	BSCL2_ENST00000405837.1_Silent_p.A282A|BSCL2_ENST00000407022.3_Silent_p.A218A|LRRN4CL_ENST00000317449.4_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Silent_p.A282A|BSCL2_ENST00000278893.7_Silent_p.A218A|BSCL2_ENST00000421906.1_Silent_p.A218A|BSCL2_ENST00000433053.1_Silent_p.A282A|BSCL2_ENST00000537604.1_5'Flank			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	218					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.A218A(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGTGAAGTGCGCGTGGATGC	0.597																																					p.A282A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G846A	11						.	C	,,	0,4404		0,0,2202	84.0	70.0	75.0		846,654,654	-0.9	0.9	11		75	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	BSCL2	NM_001122955.3,NM_001130702.2,NM_032667.6	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	282/463,218/288,218/399	62459865	1,13001	2202	4299	6501	62216441	SO:0001819	synonymous_variant	26580	exon7				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.654G>A	11.37:g.62459865C>T			62216441	NM_001130702	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	CCDS8031.1																																																																																				0.597	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667	
VEGFB	7423	broad.mit.edu	37	11	64004663	64004663	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:64004663delA	ENST00000309422.2	+	5	675	c.379delA	c.(379-381)aaafs	p.K129fs	VEGFB_ENST00000426086.2_Frame_Shift_Del_p.K129fs|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	129					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)	p.K129fs*5(2)		endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TTTCAGACCTAAAAAAAAGGA	0.473																																					p.K127fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.379delA	11						.						137.0	121.0	126.0					11																	64004663		2201	4297	6498	63761239	SO:0001589	frameshift_variant	7423	exon5			BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.379delA	11.37:g.64004663delA	ENSP00000311127:p.Lys129fs		63761239	NM_003377	Q16528	Frame_Shift_Del	DEL	ENST00000309422.2	37	CCDS8062.1																																																																																				0.473	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377	
SLC22A11	55867	broad.mit.edu	37	11	64337235	64337235	+	Silent	SNP	C	C	T	rs559589740		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:64337235C>T	ENST00000301891.4	+	9	1868	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Silent_p.G390G	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	498					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G498G(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCCTCTATGGCGTTATCTCCA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18205	0.0		0.0	False		,,,				2504	0.0				p.G498G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1494T	11						.						132.0	127.0	129.0					11																	64337235		2201	4297	6498	64093811	SO:0001819	synonymous_variant	55867	exon9			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1494C>T	11.37:g.64337235C>T			64093811	NM_018484	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																				0.607	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
SLC25A45	283130	broad.mit.edu	37	11	65143938	65143938	+	Silent	SNP	G	G	T	rs533340427		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:65143938G>T	ENST00000527174.1	-	6	862	c.807C>A	c.(805-807)gcC>gcA	p.A269A	SLC25A45_ENST00000398802.1_Silent_p.A269A|SLC25A45_ENST00000417511.2_Silent_p.A227A|SLC25A45_ENST00000377152.2_Silent_p.A165A|SLC25A45_ENST00000360662.3_Silent_p.A245A|SLC25A45_ENST00000294187.6_Silent_p.A227A|SLC25A45_ENST00000534028.1_Silent_p.A245A|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000526432.1_Silent_p.A207A			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	269					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.A269A(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGACGGGAAAGGCGCGGGCAC	0.622																																					p.A227A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681A	11						.						105.0	113.0	110.0					11																	65143938		2088	4213	6301	64900514	SO:0001819	synonymous_variant	283130	exon6			BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.807C>A	11.37:g.65143938G>T			64900514	NM_001077241	Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	CCDS41670.1																																																																																				0.622	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556	
PCNXL3	399909	broad.mit.edu	37	11	65380789	65380789	+	5'Flank	SNP	G	G	A	rs565087687		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:65380789G>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000530153.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R147C	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)		p.R147C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGTCCTGGCGAGCTGCCTTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		14479	0.001		0.0	False		,,,				2504	0.0				p.R147C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C439T	11						.						46.0	48.0	48.0					11																	65380789		2201	4297	6498	65137365	SO:0001631	upstream_gene_variant	4296	exon1			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		11.37:g.65380789G>A	Exception_encountered		65137365	NM_002419	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172260	0.78452	.	.	ENSG00000173327	ENST00000309100	D	0.94092	-3.35	4.09	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	D	0.94391	0.8196	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94926	0.8078	10	0.87932	D	0	.	13.857	0.63534	0.0:0.0:1.0:0.0	.	147	Q16584	M3K11_HUMAN	C	147	ENSP00000309597:R147C	ENSP00000309597:R147C	R	-	1	0	MAP3K11	65137365	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.603000	0.82811	2.125000	0.65367	0.563000	0.77884	CGC		0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
PC	5091	broad.mit.edu	37	11	66618725	66618725	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:66618725C>T	ENST00000393958.2	-	16	2102	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.G670D|PC_ENST00000393960.1_Missense_Mutation_p.G670D|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	670	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.G670D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GACATCCATGCCATTCTCTTT	0.607																																					p.G670D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2009A	11						.						68.0	68.0	68.0					11																	66618725		2200	4295	6495	66375301	SO:0001583	missense	5091	exon17			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2009G>A	11.37:g.66618725C>T	ENSP00000377530:p.Gly670Asp		66375301	NM_001040716	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185730	0.78789	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.99121	-5.45;-5.45;-5.45	4.52	4.52	0.55395	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97462	1.0035	10	0.87932	D	0	-30.4972	14.8168	0.70041	0.0:1.0:0.0:0.0	.	670	P11498	PYC_HUMAN	D	670	ENSP00000377527:G670D;ENSP00000377530:G670D;ENSP00000377532:G670D	ENSP00000377527:G670D	G	-	2	0	PC	66375301	1.000000	0.71417	0.999000	0.59377	0.684000	0.39900	5.221000	0.65272	2.354000	0.79902	0.655000	0.94253	GGC		0.607	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
INPPL1	3636	broad.mit.edu	37	11	71948238	71948238	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:71948238C>A	ENST00000298229.2	+	26	3154	c.2950C>A	c.(2950-2952)Cct>Act	p.P984T	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Missense_Mutation_p.P742T|INPPL1_ENST00000541756.1_Missense_Mutation_p.P742T	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	984	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.P984T(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTTCAATAACCCTGCCTACTA	0.627																																					p.P984T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2950A	11						.						89.0	103.0	98.0					11																	71948238		2200	4293	6493	71625886	SO:0001583	missense	3636	exon26			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2950C>A	11.37:g.71948238C>A	ENSP00000298229:p.Pro984Thr		71625886	NM_001567	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.106936	0.77096	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.99186	-4.35;-5.53;-5.53	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	N	0.24115	0.695	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	D	0.98251	1.0493	10	0.27082	T	0.32	.	16.493	0.84207	0.0:1.0:0.0:0.0	.	984	O15357	SHIP2_HUMAN	T	984;742;742	ENSP00000298229:P984T;ENSP00000446360:P742T;ENSP00000444619:P742T	ENSP00000298229:P984T	P	+	1	0	INPPL1	71625886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.484000	0.83849	0.563000	0.77884	CCT		0.627	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
CLPB	81570	broad.mit.edu	37	11	72145424	72145424	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:72145424G>T	ENST00000294053.3	-	1	268	c.95C>A	c.(94-96)gCt>gAt	p.A32D	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000437826.2_5'UTR|CLPB_ENST00000340729.5_Missense_Mutation_p.A32D|CLPB_ENST00000538039.1_Missense_Mutation_p.A32D|CLPB_ENST00000542555.1_5'Flank	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	32					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.A32D(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCGGCCGGAAGCACCTCCATG	0.667											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A32D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C95A	11						.						41.0	46.0	44.0					11																	72145424		2200	4293	6493	71823072	SO:0001583	missense	81570	exon1			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.95C>A	11.37:g.72145424G>T	ENSP00000294053:p.Ala32Asp	1135	71823072	NM_030813	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.938431|3.938431	0.73557|0.73557	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000340729|ENST00000535990	T;T;T|.	0.69306|.	1.77;1.08;-0.39|.	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	0.190695|.	0.31963|.	N|.	0.006783|.	T|.	0.41858|.	0.1177|.	N|N	0.14661|0.14661	0.345|0.345	0.49130|0.49130	D|D	0.99975|0.99975	B;B;B|.	0.27559|.	0.13;0.13;0.181|.	B;B;B|.	0.32533|.	0.147;0.075;0.05|.	T|.	0.42050|.	-0.9474|.	10|.	0.72032|0.56958	D|D	0.01|0.05	-7.6449|-7.6449	9.9564|9.9564	0.41668|0.41668	0.0961:0.0:0.9039:0.0|0.0961:0.0:0.9039:0.0	.|.	32;32;32|.	F8W7P6;Q9H078-2;Q9H078|.	.;.;CLPB_HUMAN|.	D|X	32|1	ENSP00000294053:A32D;ENSP00000441518:A32D;ENSP00000340385:A32D|.	ENSP00000294053:A32D|ENSP00000443822:C1X	A|C	-|-	2|3	0|2	CLPB|CLPB	71823072|71823072	0.004000|0.004000	0.15560|0.15560	0.159000|0.159000	0.22649|0.22649	0.273000|0.273000	0.26683|0.26683	0.935000|0.935000	0.28924|0.28924	1.255000|1.255000	0.44051|0.44051	-0.137000|-0.137000	0.14449|0.14449	GCT|TGC		0.667	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813	
FCHSD2	9873	broad.mit.edu	37	11	72600904	72600904	+	Silent	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:72600904A>C	ENST00000409418.4	-	11	1394	c.1011T>G	c.(1009-1011)cgT>cgG	p.R337R	FCHSD2_ENST00000409314.1_Silent_p.R361R|FCHSD2_ENST00000458644.2_Silent_p.R201R|FCHSD2_ENST00000311172.7_Silent_p.R281R|FCHSD2_ENST00000409853.1_Silent_p.R281R	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	337								p.R281R(1)|p.R337R(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TTTTATGCTCACGTGCCACAC	0.428																																					p.R337R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1011G	11						.						157.0	128.0	138.0					11																	72600904		2200	4293	6493	72278552	SO:0001819	synonymous_variant	9873	exon11			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1011T>G	11.37:g.72600904A>C			72278552	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	37	CCDS8218.2																																																																																				0.428	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
P2RY2	5029	broad.mit.edu	37	11	72945878	72945878	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:72945878T>C	ENST00000311131.2	+	3	1141	c.674T>C	c.(673-675)cTg>cCg	p.L225P	P2RY2_ENST00000393596.2_Missense_Mutation_p.L225P|P2RY2_ENST00000393597.2_Missense_Mutation_p.L225P	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	225					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.L225P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCTCGGCGACTGCTAAAGCCA	0.642																																					p.L225P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T674C	11						.						59.0	56.0	57.0					11																	72945878		2200	4293	6493	72623526	SO:0001583	missense	5029	exon3			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.674T>C	11.37:g.72945878T>C	ENSP00000310305:p.Leu225Pro		72623526	NM_176072	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892817	0.52121	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.53206	0.63;0.63;0.63	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.78000	0.4215	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85364	0.1109	10	0.87932	D	0	.	13.1371	0.59415	0.0:0.0:0.0:1.0	.	225	P41231	P2RY2_HUMAN	P	225	ENSP00000377222:L225P;ENSP00000310305:L225P;ENSP00000377221:L225P	ENSP00000310305:L225P	L	+	2	0	P2RY2	72623526	1.000000	0.71417	0.999000	0.59377	0.705000	0.40729	7.932000	0.87634	1.762000	0.52044	0.459000	0.35465	CTG		0.642	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
GRM5	2915	broad.mit.edu	37	11	88338056	88338056	+	Silent	SNP	G	G	T	rs200042953		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:88338056G>T	ENST00000305447.4	-	4	1373	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	GRM5_ENST00000305432.5_Silent_p.A408A|GRM5_ENST00000455756.2_Silent_p.A408A|GRM5_ENST00000393297.1_Silent_p.A408A|GRM5_ENST00000418177.2_Silent_p.A408A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	408					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.A408A(4)		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)	GGAGCCCATAGGCCATCGAAT	0.463																																					p.A408A												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.C1224A	11						.						98.0	84.0	89.0					11																	88338056		2201	4299	6500	87977704	SO:0001819	synonymous_variant	2915	exon5			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.1224C>A	11.37:g.88338056G>T			87977704	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																				0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
FOLH1B	219595	broad.mit.edu	37	11	89405133	89405133	+	RNA	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:89405133T>C	ENST00000532352.1	+	0	1073							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.V87A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCAGCTGTTGTTCATGAAACT	0.423																																					p.V87A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T260C	11						.						205.0	182.0	190.0					11																	89405133		2201	4299	6500	89044781			219595	exon5			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405133T>C			89044781	NM_153696		Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.423	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
FAT3	120114	broad.mit.edu	37	11	92087334	92087334	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:92087334A>G	ENST00000298047.6	+	1	2073	c.2056A>G	c.(2056-2058)Act>Gct	p.T686A	FAT3_ENST00000409404.2_Missense_Mutation_p.T686A|FAT3_ENST00000525166.1_Missense_Mutation_p.T536A|FAT3_ENST00000541502.1_Missense_Mutation_p.T686A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	686					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T686A(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGCAGAGAAACTCGTGTGGC	0.393										TCGA Ovarian(4;0.039)																											p.T686A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2056G	11						.						98.0	98.0	98.0					11																	92087334		1852	4095	5947	91726982	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2056A>G	11.37:g.92087334A>G	ENSP00000298047:p.Thr686Ala		91726982	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	17.27	3.348329	0.61183	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.47	5.47	0.80525	.	.	.	.	.	T	0.77658	0.4163	M	0.82323	2.585	0.49299	D	0.999771	D	0.76494	0.999	D	0.83275	0.996	T	0.81152	-0.1063	9	0.66056	D	0.02	.	14.7334	0.69399	1.0:0.0:0.0:0.0	.	686	Q8TDW7-3	.	A	686;686;686;536	ENSP00000298047:T686A;ENSP00000387040:T686A;ENSP00000443786:T686A;ENSP00000432586:T536A	ENSP00000298047:T686A	T	+	1	0	FAT3	91726982	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.262000	0.95591	2.075000	0.62263	0.383000	0.25322	ACT		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92087421	92087421	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:92087421T>G	ENST00000298047.6	+	1	2160	c.2143T>G	c.(2143-2145)Ttt>Gtt	p.F715V	FAT3_ENST00000409404.2_Missense_Mutation_p.F715V|FAT3_ENST00000525166.1_Missense_Mutation_p.F565V|FAT3_ENST00000541502.1_Missense_Mutation_p.F715V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	715					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F715V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTCTTGACTTTTATTCAAT	0.403										TCGA Ovarian(4;0.039)																											p.F715V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2143G	11						.						152.0	156.0	155.0					11																	92087421		1848	4104	5952	91727069	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2143T>G	11.37:g.92087421T>G	ENSP00000298047:p.Phe715Val		91727069	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	2.244	-0.373145	0.05034	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.47	5.47	0.80525	.	.	.	.	.	T	0.21590	0.0520	N	0.04508	-0.205	0.32125	N	0.587541	B	0.20671	0.047	B	0.15870	0.014	T	0.12604	-1.0541	9	0.10111	T	0.7	.	14.7334	0.69399	0.0:0.0:0.0:1.0	.	715	Q8TDW7-3	.	V	715;715;715;565	ENSP00000298047:F715V;ENSP00000387040:F715V;ENSP00000443786:F715V;ENSP00000432586:F565V	ENSP00000298047:F715V	F	+	1	0	FAT3	91727069	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.012000	0.40932	2.075000	0.62263	0.383000	0.25322	TTT		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
AMOTL1	154810	broad.mit.edu	37	11	94592725	94592725	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:94592725A>C	ENST00000433060.2	+	9	2121	c.1980A>C	c.(1978-1980)gaA>gaC	p.E660D	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E610D|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	660					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.E661D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACATGCCGGAATACAATGCCC	0.527																																					p.E660D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1980C	11						.						48.0	52.0	50.0					11																	94592725		2195	4298	6493	94232373	SO:0001583	missense	154810	exon9			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1980A>C	11.37:g.94592725A>C	ENSP00000387739:p.Glu660Asp		94232373	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177100	0.57692	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.22539	1.95;1.95	6.08	-8.03	0.01114	Angiomotin, C-terminal (1);	0.068353	0.64402	D	0.000015	T	0.21186	0.0510	L	0.54323	1.7	0.80722	D	1	B;B	0.21753	0.06;0.003	B;B	0.39771	0.309;0.033	T	0.18871	-1.0323	10	0.42905	T	0.14	-22.6319	11.5652	0.50800	0.141:0.102:0.6566:0.1004	.	610;660	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	D	610;660	ENSP00000320968:E610D;ENSP00000387739:E660D	ENSP00000320968:E610D	E	+	3	2	AMOTL1	94232373	0.921000	0.31238	0.001000	0.08648	0.039000	0.13416	0.140000	0.16056	-0.900000	0.03896	-0.256000	0.11100	GAA		0.527	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
ELMOD1	55531	broad.mit.edu	37	11	107463182	107463182	+	Intron	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:107463182C>T	ENST00000265840.7	+	1	180				ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000443271.2_Intron|AP000889.3_ENST00000600612.1_Missense_Mutation_p.A127V	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GTGCCGGTGGCTTGACAACCG	0.423																																					.												.	.	0			.	11						.						102.0	103.0	102.0					11																	107463182		2001	4152	6153	106968392	SO:0001627	intron_variant	643923	.			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+1047C>T	11.37:g.107463182C>T			106968392	.	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	CCDS44723.1																																																																																				0.423	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
CDON	50937	broad.mit.edu	37	11	125864204	125864204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:125864204delA	ENST00000392693.3	-	14	2752	c.2625delT	c.(2623-2625)agtfs	p.S875fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.S875fs|CDON_ENST00000531738.1_Frame_Shift_Del_p.S252fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	875	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S875fs*8(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTTGTAATCACTGTCATTGT	0.383																																					p.S875fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2625delT	11						.						126.0	110.0	116.0					11																	125864204		2201	4299	6500	125369414	SO:0001589	frameshift_variant	50937	exon14			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2625delT	11.37:g.125864204delA	ENSP00000376458:p.Ser875fs		125369414	NM_016952	O14631	Frame_Shift_Del	DEL	ENST00000392693.3	37	CCDS58192.1																																																																																				0.383	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
GLB1L2	89944	broad.mit.edu	37	11	134212683	134212683	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr11:134212683G>A	ENST00000535456.2	+	2	310	c.122G>A	c.(121-123)cGc>cAc	p.R41H	GLB1L2_ENST00000339772.7_Missense_Mutation_p.R41H|GLB1L2_ENST00000389881.3_Missense_Mutation_p.R41H	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	41					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.R41H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTGCGGCTCCGCCATCGACAG	0.627																																					p.R41H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G122A	11						.						47.0	51.0	50.0					11																	134212683		2201	4297	6498	133717893	SO:0001583	missense	89944	exon2				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.122G>A	11.37:g.134212683G>A	ENSP00000444628:p.Arg41His		133717893	NM_138342	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085792	0.36758	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.97161	-4.27;-4.27;-4.27	4.86	0.87	0.19102	.	0.766069	0.12739	N	0.443203	D	0.90400	0.6995	N	0.08118	0	0.09310	N	1	P	0.51351	0.944	B	0.40782	0.34	D	0.84415	0.0568	10	0.41790	T	0.15	-5.3457	8.9849	0.35988	0.3013:0.0:0.6987:0.0	.	41	Q8IW92	GLBL2_HUMAN	H	41	ENSP00000344659:R41H;ENSP00000444628:R41H;ENSP00000374531:R41H	ENSP00000344659:R41H	R	+	2	0	GLB1L2	133717893	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.810000	0.27183	0.007000	0.14760	-0.140000	0.14226	CGC		0.627	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	
UTP20	27340	broad.mit.edu	37	12	101766732	101766732	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:101766732C>T	ENST00000261637.4	+	52	7043	c.6869C>T	c.(6868-6870)gCt>gTt	p.A2290V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2290					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A2290V(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTCATGCTCGCTCAACTGAAG	0.413																																					p.A2290V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6869T	12						.						105.0	97.0	99.0					12																	101766732		2203	4300	6503	100290863	SO:0001583	missense	27340	exon52			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6869C>T	12.37:g.101766732C>T	ENSP00000261637:p.Ala2290Val		100290863	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547379	0.65311	.	.	ENSG00000120800	ENST00000261637	T	0.65178	-0.14	5.77	5.77	0.91146	Armadillo-type fold (1);	0.108325	0.64402	D	0.000008	T	0.52853	0.1760	L	0.41236	1.265	0.43133	D	0.994876	B	0.34200	0.441	B	0.32149	0.141	T	0.50964	-0.8765	10	0.28530	T	0.3	-17.9882	15.1586	0.72764	0.0:0.9306:0.0:0.0694	.	2290	O75691	UTP20_HUMAN	V	2290	ENSP00000261637:A2290V	ENSP00000261637:A2290V	A	+	2	0	UTP20	100290863	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.735000	0.62051	2.720000	0.93068	0.650000	0.86243	GCT		0.413	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
KLRK1	22914	broad.mit.edu	37	12	10531246	10531246	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:10531246T>A	ENST00000240618.6	-	6	476	c.336A>T	c.(334-336)caA>caT	p.Q112H	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.Q112H|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	112	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Q112H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CATCAAAAAATTGGTAGCAGT	0.373																																					p.Q112H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A336T	12						.						80.0	86.0	84.0					12																	10531246		2203	4300	6503	10422513	SO:0001583	missense	22914	exon11			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.336A>T	12.37:g.10531246T>A	ENSP00000240618:p.Gln112His		10422513	NM_001199805	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	37	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	T	1.851	-0.465089	0.04476	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.63580	-0.05;-0.05	5.96	-11.9	0.00025	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.743893	0.12366	N	0.475228	T	0.48804	0.1520	N	0.21545	0.675	0.19945	N	0.999946	D;D	0.76494	0.994;0.999	D;P	0.69142	0.962;0.779	T	0.55704	-0.8099	10	0.15499	T	0.54	.	4.5858	0.12282	0.2146:0.4347:0.077:0.2737	.	93;112	Q1HEA1;P26718	.;NKG2D_HUMAN	H	112	ENSP00000240618:Q112H;ENSP00000446003:Q112H	ENSP00000240618:Q112H	Q	-	3	2	KLRK1	10422513	0.013000	0.17824	0.006000	0.13384	0.008000	0.06430	-2.412000	0.01039	-3.410000	0.00169	-3.058000	0.00068	CAA		0.373	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360	
C12orf42	374470	broad.mit.edu	37	12	103700000	103700000	+	Missense_Mutation	SNP	C	C	T	rs199701137		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:103700000C>T	ENST00000378113.2	-	5	608	c.383G>A	c.(382-384)cGt>cAt	p.R128H	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548048.1_Missense_Mutation_p.R61H|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	128								p.R128H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGGAGAGGAACGGAATTCTTC	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18183	0.0		0.0	False		,,,				2504	0.0				p.R128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	12						.	C	HIS/ARG,HIS/ARG	3,3703		0,3,1850	83.0	84.0	84.0		383,383	0.2	0.0	12		84	1,8195		0,1,4097	no	missense,missense	C12orf42	NM_001099336.1,NM_198521.2	29,29	0,4,5947	TT,TC,CC		0.0122,0.0809,0.0336	possibly-damaging,possibly-damaging	128/361,128/361	103700000	4,11898	1853	4098	5951	102224130	SO:0001583	missense	374470	exon5			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.383G>A	12.37:g.103700000C>T	ENSP00000367353:p.Arg128His		102224130	NM_001099336	Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	CCDS44963.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.155	0.027219	0.08054	8.09E-4	1.22E-4	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.22	0.188	0.15114	.	2.752080	0.01310	N	0.010595	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	P	0.52692	0.955	B	0.38562	0.276	T	0.15093	-1.0449	10	0.12766	T	0.61	2.5403	3.721	0.08456	0.3678:0.4415:0.0:0.1907	.	128	Q96LP6	CL042_HUMAN	H	128;61;128;128	ENSP00000447908:R128H;ENSP00000449362:R61H;ENSP00000367353:R128H;ENSP00000447795:R128H	ENSP00000367353:R128H	R	-	2	0	C12orf42	102224130	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.991000	0.03728	0.034000	0.15491	-0.242000	0.12053	CGT		0.468	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521	
PWP1	11137	broad.mit.edu	37	12	108098456	108098456	+	Nonsense_Mutation	SNP	C	C	T	rs537077822		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:108098456C>T	ENST00000412830.3	+	11	1177	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	PWP1_ENST00000541166.1_Nonsense_Mutation_p.R275*	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	337					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R337*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGAAAGCCATCGAATGTGGCG	0.408																																					p.R337X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1009T	12						.						244.0	210.0	221.0					12																	108098456		2203	4300	6503	106622586	SO:0001587	stop_gained	11137	exon11			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1009C>T	12.37:g.108098456C>T	ENSP00000387365:p.Arg337*		106622586	NM_007062	A8K3R6|Q7Z3X9	Nonsense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	C	37	6.346332	0.97494	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000541166	.	.	.	5.83	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	8.6808	0.34207	0.2527:0.6754:0.0:0.0719	.	.	.	.	X	337;337;275	.	ENSP00000258531:R337X	R	+	1	2	PWP1	106622586	1.000000	0.71417	0.819000	0.32651	0.988000	0.76386	2.137000	0.42130	2.758000	0.94735	0.655000	0.94253	CGA		0.408	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062	
ANAPC7	51434	broad.mit.edu	37	12	110815360	110815360	+	Missense_Mutation	SNP	C	C	T	rs372040468		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:110815360C>T	ENST00000455511.3	-	9	1297	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I	ANAPC7_ENST00000450008.2_Missense_Mutation_p.V433I|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	433					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.V399I(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GTTTTGTAAACGTTGTTAGCC	0.408																																					p.V433I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1297A	12						.	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	215.0	184.0	194.0		1297,1297	6.0	1.0	12		194	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANAPC7	NM_001137664.1,NM_016238.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	433/538,433/600	110815360	1,13005	2203	4300	6503	109299743	SO:0001583	missense	51434	exon9			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1297G>A	12.37:g.110815360C>T	ENSP00000394394:p.Val433Ile		109299743	NM_001137664	Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769043	0.49680	0.0	1.16E-4	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	T;T	0.78364	-1.17;0.61	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050569	0.85682	D	0.000000	T	0.67822	0.2934	N	0.14661	0.345	0.47341	D	0.999397	B;B	0.15141	0.006;0.012	B;B	0.12837	0.008;0.002	T	0.61148	-0.7121	10	0.52906	T	0.07	-15.5173	20.5568	0.99304	0.0:1.0:0.0:0.0	.	433;433	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	I	433;7;31;433;126	ENSP00000394394:V433I;ENSP00000402314:V433I	ENSP00000402314:V433I	V	-	1	0	ANAPC7	109299743	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	5.745000	0.68672	2.861000	0.98227	0.655000	0.94253	GTT		0.408	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238	
CUX2	23316	broad.mit.edu	37	12	111785897	111785897	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:111785897T>A	ENST00000261726.6	+	22	4383	c.4229T>A	c.(4228-4230)gTg>gAg	p.V1410E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1410	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.V1410E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ATGATGTCTGTGTCACCTGTC	0.627																																					p.V1410E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4229A	12						.						44.0	54.0	51.0					12																	111785897		2136	4237	6373	110270280	SO:0001583	missense	23316	exon22			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4229T>A	12.37:g.111785897T>A	ENSP00000261726:p.Val1410Glu		110270280	NM_015267	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975038	0.74360	.	.	ENSG00000111249	ENST00000261726	T	0.52526	0.66	5.64	4.5	0.54988	.	0.128378	0.51477	D	0.000098	T	0.40171	0.1106	M	0.63428	1.95	0.53688	D	0.999976	P	0.42123	0.771	B	0.40410	0.328	T	0.41822	-0.9487	10	0.02654	T	1	-22.4037	10.5325	0.44986	0.0:0.0768:0.0:0.9231	.	1410	O14529	CUX2_HUMAN	E	1410	ENSP00000261726:V1410E	ENSP00000261726:V1410E	V	+	2	0	CUX2	110270280	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	3.591000	0.53986	0.980000	0.38523	0.533000	0.62120	GTG		0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
ATXN2	6311	broad.mit.edu	37	12	111890625	111890625	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:111890625C>A	ENST00000377617.3	-	25	4094	c.3933G>T	c.(3931-3933)caG>caT	p.Q1311H	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.Q1071H|ATXN2_ENST00000389153.4_Missense_Mutation_p.Q1048H|ATXN2_ENST00000608853.1_Missense_Mutation_p.Q1151H|ATXN2_ENST00000535949.1_Missense_Mutation_p.Q1004H	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1311					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.Q1311H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTTACAACTGCTGTTGGTGGT	0.453																																					p.Q1311H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3933T	12						.						147.0	123.0	132.0					12																	111890625		2203	4300	6503	110375008	SO:0001583	missense	6311	exon25			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3933G>T	12.37:g.111890625C>A	ENSP00000366843:p.Gln1311His		110375008	NM_002973	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.23|18.23	3.577783|3.577783	0.65878|0.65878	.|.	.|.	ENSG00000204842|ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000542287;ENST00000535949|ENST00000389154	T|.	0.75589|.	-0.95|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.241339|.	0.44285|.	D|.	0.000469|.	T|T	0.60907|0.60907	0.2305|0.2305	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.996;0.99;0.998|.	D;D;D|.	0.80764|.	0.986;0.979;0.994|.	T|T	0.61063|0.61063	-0.7138|-0.7138	10|6	0.87932|0.59425	D|D	0|0.04	-7.1365|-7.1365	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1311;1004;1071|.	Q99700;Q24JQ7;F8VQP2|.	ATX2_HUMAN;.;.|.	H|I	1048;1311;1071;1004|310	ENSP00000366843:Q1311H|.	ENSP00000366843:Q1311H|ENSP00000373806:S310I	Q|S	-|-	3|2	2|0	ATXN2|ATXN2	110375008|110375008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.337000|3.337000	0.52120|0.52120	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	CAG|AGC		0.453	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
ACAD10	80724	broad.mit.edu	37	12	112187036	112187036	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:112187036G>T	ENST00000313698.4	+	18	2859	c.2704G>T	c.(2704-2706)Ggc>Tgc	p.G902C	ACAD10_ENST00000455480.2_Missense_Mutation_p.G933C	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	902						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.G902C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CATGGTCCTGGGCCCTGGCCG	0.592																																					p.G902C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2704T	12						.						127.0	125.0	125.0					12																	112187036		2203	4300	6503	110671419	SO:0001583	missense	80724	exon18			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2704G>T	12.37:g.112187036G>T	ENSP00000325137:p.Gly902Cys		110671419	NM_025247	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140313	0.77775	.	.	ENSG00000111271	ENST00000455480;ENST00000313698	D;D	0.99060	-5.38;-5.38	5.69	3.85	0.44370	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.059725	0.64402	D	0.000004	D	0.99402	0.9789	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	D	0.98760	1.0724	10	0.87932	D	0	.	11.7745	0.51977	0.1482:0.0:0.8518:0.0	.	933;902	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	C	933;902	ENSP00000389813:G933C;ENSP00000325137:G902C	ENSP00000325137:G902C	G	+	1	0	ACAD10	110671419	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.616000	0.61197	1.406000	0.46857	0.655000	0.94253	GGC		0.592	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
HECTD4	283450	broad.mit.edu	37	12	112600226	112600226	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:112600226C>T	ENST00000430131.2	-	75	13101	c.11956G>A	c.(11956-11958)Gcc>Acc	p.A3986T	HECTD4_ENST00000377560.5_Missense_Mutation_p.A4236T|HECTD4_ENST00000550722.1_Missense_Mutation_p.A4262T|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3986	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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.A4236T(1)|p.A3986T(1)									TAGTGAATGGCACAACGAAGT	0.557																																					p.A4236T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G12706A	12						.						99.0	101.0	100.0					12																	112600226		1991	4171	6162	111084609	SO:0001583	missense	283450	exon75			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.11956G>A	12.37:g.112600226C>T	ENSP00000404379:p.Ala3986Thr		111084609	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.743161	0.96873	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.75154	-0.91;-0.91;-0.91	5.51	5.51	0.81932	HECT (4);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.82517	2.595	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.88963	0.3395	10	0.72032	D	0.01	.	19.4086	0.94658	0.0:1.0:0.0:0.0	.	3986	Q9Y4D8	K0614_HUMAN	T	4236;3986;4262	ENSP00000366783:A4236T;ENSP00000404379:A3986T;ENSP00000449784:A4262T	ENSP00000366783:A4236T	A	-	1	0	C12orf51	111084609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.595000	0.87683	0.563000	0.77884	GCC		0.557	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
HECTD4	283450	broad.mit.edu	37	12	112654695	112654695	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:112654695C>T	ENST00000430131.2	-	46	7146	c.6001G>A	c.(6001-6003)Gtt>Att	p.V2001I	HECTD4_ENST00000377560.5_Missense_Mutation_p.V2251I|HECTD4_ENST00000550722.1_Missense_Mutation_p.V2277I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2001					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.V2001I(1)|p.V2251I(1)									CCATAGGAAACGATTTCAATT	0.498																																					p.V2251I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6751A	12						.						84.0	81.0	82.0					12																	112654695		1878	4121	5999	111139078	SO:0001583	missense	283450	exon46			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.6001G>A	12.37:g.112654695C>T	ENSP00000404379:p.Val2001Ile		111139078	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.369756	0.82573	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54866	0.55;0.56;0.55	5.81	5.81	0.92471	.	.	.	.	.	T	0.56307	0.1976	N	0.14661	0.345	0.58432	D	0.999993	D	0.54772	0.968	P	0.59221	0.854	T	0.62492	-0.6843	9	0.87932	D	0	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	2001	Q9Y4D8	K0614_HUMAN	I	2251;2001;2277	ENSP00000366783:V2251I;ENSP00000404379:V2001I;ENSP00000449784:V2277I	ENSP00000366783:V2251I	V	-	1	0	C12orf51	111139078	1.000000	0.71417	0.999000	0.59377	0.781000	0.44180	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	GTT		0.498	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
MAP1LC3B2	643246	broad.mit.edu	37	12	117013801	117013801	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:117013801A>C	ENST00000556529.1	+	1	146	c.54A>C	c.(52-54)gaA>gaC	p.E18D	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.E18D			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	18					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)		p.E18D(1)		breast(1)|large_intestine(2)|lung(3)	6						AAAGAGTAGAAGATGTCCGAC	0.552																																					p.E18D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A54C	12						.						122.0	117.0	119.0					12																	117013801		2203	4300	6503	115498184	SO:0001583	missense	643246	exon2				CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.54A>C	12.37:g.117013801A>C	ENSP00000450524:p.Glu18Asp		115498184	NM_001085481		Missense_Mutation	SNP	ENST00000556529.1	37	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	a	8.205	0.799060	0.16397	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.44482	0.92;0.92	2.39	1.2	0.21068	.	0.000000	0.85682	U	0.000000	T	0.22551	0.0544	N	0.20445	0.575	0.39246	D	0.963952	B	0.02656	0.0	B	0.01281	0.0	T	0.04781	-1.0927	10	0.36615	T	0.2	-8.1349	5.3637	0.16101	0.8405:0.0:0.1595:0.0	.	18	A6NCE7	MP3B2_HUMAN	D	18	ENSP00000305059:E18D;ENSP00000450524:E18D	ENSP00000305059:E18D	E	+	3	2	MAP1LC3B2	115498184	1.000000	0.71417	0.466000	0.27168	0.526000	0.34562	4.099000	0.57755	0.204000	0.20548	0.308000	0.20428	GAA		0.552	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481	
CIT	11113	broad.mit.edu	37	12	120173011	120173011	+	Missense_Mutation	SNP	C	C	T	rs538911447		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:120173011C>T	ENST00000261833.7	-	24	3036	c.2984G>A	c.(2983-2985)cGc>cAc	p.R995H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1037H	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	995					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.R1038H(1)|p.R995H(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)		GATCTCCCGGCGGAGATGGTC	0.493																																					p.R995H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2984A	12						.						186.0	160.0	169.0					12																	120173011		2203	4300	6503	118657394	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.2984G>A	12.37:g.120173011C>T	ENSP00000261833:p.Arg995His		118657394	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.926507|5.926507	0.97110|0.97110	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520;ENST00000546026|ENST00000392521;ENST00000261833	.|T;T	.|0.66099	.|-0.15;-0.19	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70596|0.70596	0.3242|0.3242	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|P;D;P	.|0.76071	.|0.902;0.987;0.869	T|T	0.74290|0.74290	-0.3713|-0.3713	5|10	.|0.72032	.|D	.|0.01	.|.	19.1641|19.1641	0.93546|0.93546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1037;995;528	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|H	623;21|1037;995	.|ENSP00000376306:R1037H;ENSP00000261833:R995H	.|ENSP00000261833:R995H	A|R	-|-	1|2	0|0	CIT|CIT	118657394|118657394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.776000|7.776000	0.85560|0.85560	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.493	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
CIT	11113	broad.mit.edu	37	12	120189938	120189938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:120189938C>T	ENST00000261833.7	-	22	2747	c.2695G>A	c.(2695-2697)Gcc>Acc	p.A899T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.A941T	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	899					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.A942T(1)|p.A899T(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)		CTCTCCAGGGCCGCCCGTGCA	0.622																																					p.A899T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2695A	12						.						47.0	44.0	45.0					12																	120189938		2203	4300	6503	118674321	SO:0001583	missense	11113	exon22			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.2695G>A	12.37:g.120189938C>T	ENSP00000261833:p.Ala899Thr		118674321	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184474	0.94885	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65549	-0.14;-0.16	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.27053	0.805	0.80722	D	1	D;B;B	0.60575	0.988;0.009;0.015	P;B;B	0.57204	0.815;0.008;0.028	T	0.61869	-0.6974	10	0.35671	T	0.21	.	14.3865	0.66947	0.0:0.9287:0.0:0.0713	.	941;899;432	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	941;899	ENSP00000376306:A941T;ENSP00000261833:A899T	ENSP00000261833:A899T	A	-	1	0	CIT	118674321	1.000000	0.71417	0.912000	0.35992	0.934000	0.57294	5.780000	0.68956	1.330000	0.45394	0.650000	0.86243	GCC		0.622	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
ETV6	2120	broad.mit.edu	37	12	12022684	12022684	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:12022684C>T	ENST00000396373.4	+	5	1064	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	264					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R264C(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GGAGAGCACACGCGTGATCCA	0.622			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																p.R264C			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790T	12						.						100.0	96.0	97.0					12																	12022684		2203	4300	6503	11913951	SO:0001583	missense	2120	exon5			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.790C>T	12.37:g.12022684C>T	ENSP00000379658:p.Arg264Cys		11913951	NM_001987	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755471	0.69648	.	.	ENSG00000139083	ENST00000396373	T	0.04049	3.72	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	T	0.00014	-1.2403	10	0.56958	D	0.05	.	14.4137	0.67135	0.1843:0.8157:0.0:0.0	.	264	P41212	ETV6_HUMAN	C	264	ENSP00000379658:R264C	ENSP00000379658:R264C	R	+	1	0	ETV6	11913951	0.992000	0.36948	0.289000	0.24876	0.868000	0.49771	3.110000	0.50352	2.713000	0.92767	0.655000	0.94253	CGC		0.622	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987	
GCN1L1	10985	broad.mit.edu	37	12	120574455	120574455	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:120574455A>G	ENST00000300648.6	-	51	6871	c.6859T>C	c.(6859-6861)Tta>Cta	p.L2287L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2287					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.L2287L(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)					ACCAAGCCTAAGGCTTTGGCT	0.612																																					p.L2287L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6859C	12						.						58.0	63.0	61.0					12																	120574455		2063	4186	6249	119058838	SO:0001819	synonymous_variant	10985	exon51			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.6859T>C	12.37:g.120574455A>G			119058838	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
SRSF9	8683	broad.mit.edu	37	12	120901869	120901869	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:120901869C>T	ENST00000229390.3	-	3	589	c.406G>A	c.(406-408)Gat>Aat	p.D136N		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	136	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D136N(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						TAACAGACATCCCCAGCTTCT	0.502																																					p.D136N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406A	12						.						194.0	168.0	177.0					12																	120901869		2203	4300	6503	119386252	SO:0001583	missense	8683	exon3			U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.406G>A	12.37:g.120901869C>T	ENSP00000229390:p.Asp136Asn		119386252	NM_003769	Q52LD1	Missense_Mutation	SNP	ENST00000229390.3	37	CCDS9199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.287707|5.287707	0.95517|0.95517	.|.	.|.	ENSG00000111786|ENSG00000111786	ENST00000229390|ENST00000550458	T|T	0.16743|0.15603	2.32|2.41	5.43|5.43	5.43|5.43	0.79202|0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.169135|.	0.48767|.	D|.	0.000175|.	T|T	0.38558|0.38558	0.1045|0.1045	M|M	0.66439|0.66439	2.03|2.03	0.80722|0.80722	D|D	1|1	D|.	0.53885|.	0.963|.	P|.	0.62298|.	0.9|.	T|T	0.06006|0.06006	-1.0851|-1.0851	10|7	0.59425|0.87932	D|D	0.04|0	.|.	18.1794|18.1794	0.89772|0.89772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	136|.	Q13242|.	SRSF9_HUMAN|.	N|E	136|80	ENSP00000229390:D136N|ENSP00000449030:G80E	ENSP00000229390:D136N|ENSP00000449030:G80E	D|G	-|-	1|2	0|0	SRSF9|SRSF9	119386252|119386252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.964000|6.964000	0.76061|0.76061	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.502	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2	NM_003769	
MLEC	9761	broad.mit.edu	37	12	121134168	121134168	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:121134168A>G	ENST00000228506.3	+	5	1127	c.699A>G	c.(697-699)gaA>gaG	p.E233E	MLEC_ENST00000412616.2_Missense_Mutation_p.K155R|RP11-173P15.3_ENST00000541383.1_RNA|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	233	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						aagaagaggaagaagaagaag	0.458																																					p.E233E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A699G	12						.						123.0	128.0	126.0					12																	121134168		2203	4300	6503	119618551	SO:0001819	synonymous_variant	9761	exon5			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.699A>G	12.37:g.121134168A>G			119618551	NM_014730		Silent	SNP	ENST00000228506.3	37	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258260	0.23051	.	.	ENSG00000110917	ENST00000412616	.	.	.	5.12	-2.58	0.06228	.	.	.	.	.	T	0.37320	0.0999	.	.	.	0.21719	N	0.999574	.	.	.	.	.	.	T	0.45483	-0.9258	5	0.72032	D	0.01	.	6.0527	0.19794	0.2523:0.1089:0.5315:0.1073	.	.	.	.	R	155	.	ENSP00000440746:K155R	K	+	2	0	MLEC	119618551	0.416000	0.25424	0.994000	0.49952	0.990000	0.78478	-0.364000	0.07583	-0.266000	0.09339	-0.256000	0.11100	AAG		0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730	
P2RX7	5027	broad.mit.edu	37	12	121603898	121603898	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:121603898T>G	ENST00000546057.1	+	7	795	c.652T>G	c.(652-654)Ttc>Gtc	p.F218V	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.F128V|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000328963.5_Missense_Mutation_p.F48V|P2RX7_ENST00000541446.1_5'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	218					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)	p.F218V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACTTGTACCTTCCACAAGAC	0.408																																					p.F218V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T652G	12						.						199.0	184.0	189.0					12																	121603898		2203	4300	6503	120088281	SO:0001583	missense	5027	exon7			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.652T>G	12.37:g.121603898T>G	ENSP00000442349:p.Phe218Val		120088281	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318954	0.81469	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250	T;T;T	0.05081	3.5;3.5;3.5	5.28	5.28	0.74379	.	0.180058	0.39687	N	0.001295	T	0.25457	0.0619	M	0.85099	2.735	0.80722	D	1	D;D;P	0.63046	0.992;0.987;0.879	P;P;P	0.62298	0.9;0.885;0.661	T	0.02320	-1.1177	10	0.87932	D	0	-11.7872	13.1571	0.59524	0.0:0.0:0.0:1.0	.	48;128;218	F8W951;F5H7E8;Q99572	.;.;P2RX7_HUMAN	V	218;48;128	ENSP00000442349:F218V;ENSP00000330696:F48V;ENSP00000442572:F128V	ENSP00000330696:F48V	F	+	1	0	P2RX7	120088281	0.999000	0.42202	1.000000	0.80357	0.908000	0.53690	4.871000	0.63042	1.982000	0.57802	0.460000	0.39030	TTC		0.408	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562	
CLIP1	6249	broad.mit.edu	37	12	122862149	122862149	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:122862149C>T	ENST00000540338.1	-	2	485	c.444G>A	c.(442-444)ccG>ccA	p.P148P	CLIP1_ENST00000361654.4_Silent_p.P148P|CLIP1_ENST00000537178.1_Silent_p.P148P|CLIP1_ENST00000302528.7_Silent_p.P148P|CLIP1_ENST00000358808.2_Silent_p.P148P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	148	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.P148P(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAGTGCACAGCGGTGAAGTAG	0.537																																					p.P148P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G444A	12						.						162.0	143.0	149.0					12																	122862149		2203	4300	6503	121428102	SO:0001819	synonymous_variant	6249	exon3				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.444G>A	12.37:g.122862149C>T			121428102	NM_198240	A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																				0.537	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
RSRC2	65117	broad.mit.edu	37	12	123001801	123001801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:123001801C>T	ENST00000331738.7	-	5	720	c.575G>A	c.(574-576)aGc>aAc	p.S192N	RSRC2_ENST00000354654.2_Missense_Mutation_p.S144N	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	192	Ser-rich.						poly(A) RNA binding (GO:0044822)	p.S192N(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CCTACTCCTGCTTCTAGTCCT	0.473																																					p.S192N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G575A	12						.						215.0	179.0	191.0					12																	123001801		2203	4300	6503	121567754	SO:0001583	missense	65117	exon5			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.575G>A	12.37:g.123001801C>T	ENSP00000330188:p.Ser192Asn		121567754	NM_023012	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.956654|2.956654	0.53293|0.53293	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.55588|0.30448	0.51|1.53;1.53;1.53	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39410|0.39410	0.1077|0.1077	N|N	0.24115|0.24115	0.695|0.695	0.51482|0.51482	D|D	0.999928|0.999928	.|D;D;D;D	.|0.57899	.|0.981;0.981;0.981;0.981	.|D;D;D;D	.|0.63597	.|0.916;0.916;0.916;0.916	T|T	0.07309|0.07309	-1.0779|-1.0779	7|10	0.87932|0.17369	D|T	0|0.5	.|.	19.0609|19.0609	0.93093|0.93093	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|192;144;192;133	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	T|N	86|192;144;192;133	ENSP00000446470:A86T|ENSP00000330188:S192N;ENSP00000346678:S144N;ENSP00000343315:S133N	ENSP00000446470:A86T|ENSP00000330188:S192N	A|S	-|-	1|2	0|0	RSRC2|RSRC2	121567754|121567754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.637000|6.637000	0.74304|0.74304	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.473	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012	
DNAH10	196385	broad.mit.edu	37	12	124377792	124377792	+	Missense_Mutation	SNP	C	C	T	rs201720388	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:124377792C>T	ENST00000409039.3	+	52	8679	c.8654C>T	c.(8653-8655)gCg>gTg	p.A2885V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2885	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.A2885V(1)|p.A1477V(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)		ATTGTACCTGCGCTTTTTTCT	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20565	0.0		0.0	False		,,,				2504	0.0				p.A2885V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8654T	12						.						56.0	56.0	56.0					12																	124377792		1977	4174	6151	122943745	SO:0001583	missense	196385	exon52			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.8654C>T	12.37:g.124377792C>T	ENSP00000386770:p.Ala2885Val		122943745	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861891	0.91433	.	.	ENSG00000197653	ENST00000409039	T	0.43688	0.94	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000003	T	0.70937	0.3281	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77474	-0.2574	10	0.72032	D	0.01	.	18.1884	0.89799	0.0:1.0:0.0:0.0	.	2885	Q8IVF4	DYH10_HUMAN	V	2885	ENSP00000386770:A2885V	ENSP00000386770:A2885V	A	+	2	0	DNAH10	122943745	1.000000	0.71417	0.097000	0.21041	0.110000	0.19582	7.548000	0.82154	2.621000	0.88768	0.561000	0.74099	GCG		0.512	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
SFSWAP	6433	broad.mit.edu	37	12	132241079	132241079	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:132241079G>C	ENST00000261674.4	+	11	1751	c.1610G>C	c.(1609-1611)gGg>gCg	p.G537A	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Missense_Mutation_p.G537A	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	537					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.G537A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTGATGCTGGGGAGGATGGC	0.587																																					p.G537A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1610C	12						.						64.0	69.0	67.0					12																	132241079		2203	4300	6503	130807032	SO:0001583	missense	6433	exon11			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1610G>C	12.37:g.132241079G>C	ENSP00000261674:p.Gly537Ala		130807032	NM_004592	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.014|0.014	-1.600050|-1.600050	0.00849|0.00849	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286|ENST00000537164	T;T;T|T	0.21932|0.21932	2.98;1.98;2.99|1.98	5.34|5.34	1.97|1.97	0.26223|0.26223	.|.	0.847820|0.847820	0.10940|0.10940	N|N	0.617342|0.617342	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.12182|0.12182	0.205|0.205	0.22737|0.22737	N|N	0.998793|0.998793	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.11329|.	0.006;0.002|.	T|T	0.38520|0.38520	-0.9657|-0.9657	10|8	0.08837|0.17369	T|T	0.75|0.5	-14.706|-14.706	7.8944|7.8944	0.29697|0.29697	0.0:0.239:0.4822:0.2789|0.0:0.239:0.4822:0.2789	.|.	537;537|.	F5H6B8;Q12872|.	.;SFSWA_HUMAN|.	A|R	537;474;330;537|177	ENSP00000261674:G537A;ENSP00000443045:G330A;ENSP00000437738:G537A|ENSP00000439957:G177R	ENSP00000261674:G537A|ENSP00000439957:G177R	G|G	+|+	2|1	0|0	SFSWAP|SFSWAP	130807032|130807032	0.069000|0.069000	0.21087|0.21087	0.234000|0.234000	0.24042|0.24042	0.010000|0.010000	0.07245|0.07245	0.331000|0.331000	0.19733|0.19733	0.472000|0.472000	0.27344|0.27344	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.587	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	
KDM5A	5927	broad.mit.edu	37	12	394749	394749	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:394749T>A	ENST00000399788.2	-	28	5308	c.4946A>T	c.(4945-4947)gAa>gTa	p.E1649V	KDM5A_ENST00000540838.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1649	Interaction with LMO2. {ECO:0000269|PubMed:9129143}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1649V(1)|p.E1681V(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCTTCATTTTCAGCCATTTC	0.458			T	NUP98	AML																																p.E1649V			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4946T	12						.						150.0	143.0	145.0					12																	394749		1977	4153	6130	265010	SO:0001583	missense	5927	exon28				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4946A>T	12.37:g.394749T>A	ENSP00000382688:p.Glu1649Val		265010	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956155	0.73902	.	.	ENSG00000073614	ENST00000399788	T	0.62498	0.02	5.09	5.09	0.68999	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.057402	0.64402	D	0.000002	T	0.74176	0.3682	L	0.49455	1.56	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.76969	-0.2762	10	0.72032	D	0.01	-20.1794	15.166	0.72825	0.0:0.0:0.0:1.0	.	1649	P29375	KDM5A_HUMAN	V	1649	ENSP00000382688:E1649V	ENSP00000382688:E1649V	E	-	2	0	KDM5A	265010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.049000	0.60858	0.460000	0.39030	GAA		0.458	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
CCDC77	84318	broad.mit.edu	37	12	550055	550055	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:550055C>T	ENST00000239830.4	+	12	1392	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	CCDC77_ENST00000412006.2_Missense_Mutation_p.R373C|CCDC77_ENST00000422000.1_Missense_Mutation_p.R373C|CCDC77_ENST00000540180.1_Missense_Mutation_p.R373C	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	405						centrosome (GO:0005813)|membrane (GO:0016020)		p.R405C(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AATGACAAAACGCTATGAGGC	0.448																																					p.R373C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1117T	12						.						85.0	78.0	81.0					12																	550055		2203	4300	6503	420316	SO:0001583	missense	84318	exon10			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1213C>T	12.37:g.550055C>T	ENSP00000239830:p.Arg405Cys		420316	NM_001130148	B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379863	0.61845	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74609	-0.3608	10	0.87932	D	0	-10.3991	15.1173	0.72413	0.1414:0.8586:0.0:0.0	.	405	Q9BR77	CCD77_HUMAN	C	373;373;373;405;373	ENSP00000440554:R373C;ENSP00000391870:R373C;ENSP00000445873:R373C;ENSP00000239830:R405C;ENSP00000412925:R373C	ENSP00000239830:R405C	R	+	1	0	CCDC77	420316	1.000000	0.71417	0.976000	0.42696	0.061000	0.15899	5.716000	0.68437	2.816000	0.96949	0.563000	0.77884	CGC		0.448	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358	
CACNA1C	775	broad.mit.edu	37	12	2800177	2800177	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:2800177G>A	ENST00000347598.4	+	49	6373	c.6373G>A	c.(6373-6375)Gcg>Acg	p.A2125T	CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2085T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2105T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2083T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2094T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2097T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2096T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2085T|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2077T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2077T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2148T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2096T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2118T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2077T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2077T|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2077T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2112T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2102T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2112T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2148T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2096T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2077T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2160					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.A1612T(1)|p.A2190T(1)|p.A2118T(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)	GATGGAGAGCGCGGCCGACAA	0.647																																					p.A2077T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G6229A	12						.						12.0	15.0	14.0					12																	2800177		1983	4141	6124	2670438	SO:0001583	missense	775	exon47			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.6373G>A	12.37:g.2800177G>A	ENSP00000266376:p.Ala2125Thr		2670438	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	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021220	0.93462	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	4.58	4.58	0.56647	.	0.059993	0.64402	D	0.000005	T	0.78489	0.4291	M	0.83774	2.66	0.51482	D	0.999923	D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.191;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.995;1.0;1.0;1.0;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.97110	1.0;0.996;0.992;0.999;0.996;0.998;0.997;0.998;0.065;0.999;0.996;0.996;0.996;0.998;0.981;0.995;0.996;0.898;0.996;0.999;0.99;0.971;0.996;0.996;0.992	T	0.82422	-0.0465	10	0.87932	D	0	.	17.926	0.88983	0.0:0.0:1.0:0.0	.	768;2118;2074;2160;2112;2096;2077;2094;2105;2077;2097;2077;2108;2125;2077;2112;2148;2085;2083;2085;2066;2096;2096;2077;2077	B7Z7Z5;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;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	2102;2077;2077;2105;2077;2096;2096;2085;2077;2125;2097;2077;2118;2094;2112;2083;2096;2077;2148;2112;2148;2085;1978	ENSP00000336982:A2102T;ENSP00000382563:A2077T;ENSP00000382552:A2077T;ENSP00000382547:A2105T;ENSP00000382506:A2077T;ENSP00000382530:A2096T;ENSP00000382546:A2096T;ENSP00000382500:A2085T;ENSP00000382549:A2077T;ENSP00000266376:A2125T;ENSP00000382515:A2097T;ENSP00000382510:A2077T;ENSP00000341092:A2118T;ENSP00000382537:A2094T;ENSP00000329877:A2112T;ENSP00000382557:A2083T;ENSP00000385724:A2096T;ENSP00000382512:A2077T;ENSP00000382542:A2148T;ENSP00000382526:A2112T;ENSP00000385896:A2148T;ENSP00000382504:A2085T	ENSP00000323129:A1978T	A	+	1	0	CACNA1C	2670438	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	9.482000	0.97935	2.545000	0.85829	0.655000	0.94253	GCG		0.647	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
TSPAN9	10867	broad.mit.edu	37	12	3392277	3392277	+	Missense_Mutation	SNP	G	G	A	rs147562233	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:3392277G>A	ENST00000011898.5	+	9	876	c.715G>A	c.(715-717)Gca>Aca	p.A239T	TSPAN9_ENST00000537971.1_Missense_Mutation_p.A239T	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	239						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)		p.A239T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GAAGTACGACGCATGAGCGGG	0.627																																					p.A239T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G715A	12						.						70.0	59.0	62.0					12																	3392277		2203	4300	6503	3262538	SO:0001583	missense	10867	exon8			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.715G>A	12.37:g.3392277G>A	ENSP00000011898:p.Ala239Thr		3262538	NM_001168320	D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205990	0.79127	.	.	ENSG00000011105	ENST00000537971;ENST00000011898	T;T	0.41400	1.0;1.0	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	L	0.44542	1.39	0.80722	D	1	B	0.30664	0.289	B	0.17722	0.019	T	0.10222	-1.0639	10	0.30078	T	0.28	.	16.3568	0.83237	0.0:0.0:1.0:0.0	.	239	O75954	TSN9_HUMAN	T	239	ENSP00000444799:A239T;ENSP00000011898:A239T	ENSP00000011898:A239T	A	+	1	0	TSPAN9	3262538	1.000000	0.71417	0.960000	0.40013	0.763000	0.43281	9.324000	0.96373	2.443000	0.82685	0.644000	0.83932	GCA		0.627	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	
CD27	939	broad.mit.edu	37	12	6559466	6559466	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:6559466G>A	ENST00000266557.3	+	3	625	c.396G>A	c.(394-396)tcG>tcA	p.S132S	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR|TAPBPL_ENST00000266556.7_5'Flank|TAPBPL_ENST00000544021.1_5'Flank	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	132					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)	p.S132S(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCGCTCGGTCGTCTCAGGCCC	0.587																																					p.S132S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	12						.						144.0	117.0	126.0					12																	6559466		2203	4300	6503	6429727	SO:0001819	synonymous_variant	939	exon3			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.396G>A	12.37:g.6559466G>A			6429727	NM_001242	B2RDZ0	Silent	SNP	ENST00000266557.3	37	CCDS8545.1																																																																																				0.587	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1		
CHD4	1108	broad.mit.edu	37	12	6687281	6687281	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:6687281A>G	ENST00000357008.2	-	36	5305	c.5142T>C	c.(5140-5142)aaT>aaC	p.N1714N	CHD4_ENST00000544484.1_Silent_p.N1739N|CHD4_ENST00000544040.1_Silent_p.N1707N|CHD4_ENST00000309577.6_Silent_p.N1742N|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1714	Required for interaction with PCNT.				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.N1714N(1)|p.N1742N(1)		central_nervous_system(2)	2						CCCGCTCTTCATTCTGCCAAA	0.483																																					p.N1714N	Colon(32;586 792 4568 16848 45314)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T5142C	12						.						84.0	80.0	81.0					12																	6687281		2203	4300	6503	6557542	SO:0001819	synonymous_variant	1108	exon36			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.5142T>C	12.37:g.6687281A>G			6557542	NM_001273	Q8IXZ5	Silent	SNP	ENST00000357008.2	37	CCDS8552.1																																																																																				0.483	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
PIANP	196500	broad.mit.edu	37	12	6805682	6805682	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:6805682G>A	ENST00000540656.1	-	4	870	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	PIANP_ENST00000320591.5_Missense_Mutation_p.P178S|PIANP_ENST00000534837.1_Missense_Mutation_p.P178S	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	178						integral component of membrane (GO:0016021)		p.P178S(1)									TAGAGCTGGGGGTCCACACCT	0.572																																					p.P178S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532T	12						.						58.0	57.0	57.0					12																	6805682		1998	4168	6166	6675943	SO:0001583	missense	196500	exon4			BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.532C>T	12.37:g.6805682G>A	ENSP00000442157:p.Pro178Ser		6675943	NM_153685	A8K0T3|B3KPF7|B3KRI6|Q6UX35	Missense_Mutation	SNP	ENST00000540656.1	37	CCDS44818.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048984	0.75846	.	.	ENSG00000139200	ENST00000540656;ENST00000320591;ENST00000534837;ENST00000439553	T;T;T	0.47528	0.84;0.84;0.84	3.68	3.68	0.42216	.	0.169304	0.40554	N	0.001065	T	0.52709	0.1751	N	0.19112	0.55	0.47441	D	0.999424	D	0.76494	0.999	D	0.74023	0.982	T	0.57452	-0.7809	10	0.45353	T	0.12	-8.181	15.9627	0.79941	0.0:0.0:1.0:0.0	.	178	Q8IYJ0	CL053_HUMAN	S	178;178;178;152	ENSP00000442157:P178S;ENSP00000317818:P178S;ENSP00000443919:P178S	ENSP00000317818:P178S	P	-	1	0	C12orf53	6675943	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.475000	0.73582	2.053000	0.61076	0.460000	0.39030	CCC		0.572	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685	
ATN1	1822	broad.mit.edu	37	12	7045654	7045654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:7045654delC	ENST00000356654.4	+	5	1461	c.1224delC	c.(1222-1224)tacfs	p.Y408fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.Y408fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	408					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.H410fs*43(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCCCAGCTACCCCCACTCTT	0.582																																					p.Y408fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1224delC	12						.						77.0	64.0	68.0					12																	7045654		2203	4300	6503	6915915	SO:0001589	frameshift_variant	1822	exon5			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1224delC	12.37:g.7045654delC	ENSP00000349076:p.Tyr408fs		6915915	NM_001007026	Q99495|Q99621|Q9UEK7	Frame_Shift_Del	DEL	ENST00000356654.4	37	CCDS31734.1																																																																																				0.582	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
C1RL	51279	broad.mit.edu	37	12	7249400	7249400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:7249400delG	ENST00000266542.4	-	6	1143	c.1051delC	c.(1051-1053)ctgfs	p.L351fs	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	351	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.L351fs*35(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGGGGCCCAGGGGGATGCTG	0.617																																					p.L351fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1051delC	12						.						85.0	72.0	77.0					12																	7249400		2203	4300	6503	7140542	SO:0001589	frameshift_variant	51279	exon6			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1051delC	12.37:g.7249400delG	ENSP00000266542:p.Leu351fs		7140542	NM_016546	Q53GX9	Frame_Shift_Del	DEL	ENST00000266542.4	37	CCDS8573.1																																																																																				0.617	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546	
CD163	9332	broad.mit.edu	37	12	7649629	7649629	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:7649629G>A	ENST00000359156.4	-	5	1081	c.879C>T	c.(877-879)gaC>gaT	p.D293D	CD163_ENST00000396620.3_Silent_p.D293D|CD163_ENST00000541972.1_Silent_p.D281D|CD163_ENST00000432237.2_Silent_p.D293D	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	293	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D293D(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGTCCCAGCCGTCATCACATA	0.507																																					p.D293D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C879T	12						.						201.0	156.0	172.0					12																	7649629		2203	4300	6503	7540896	SO:0001819	synonymous_variant	9332	exon5			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.879C>T	12.37:g.7649629G>A			7540896	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	CCDS8578.1																																																																																				0.507	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
LRP6	4040	broad.mit.edu	37	12	12397532	12397533	+	Frame_Shift_Del	DEL	TT	TT	-	rs138911001	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:12397532_12397533delTT	ENST00000261349.4	-	2	188_189	c.112_113delAA	c.(112-114)aatfs	p.N38fs	LRP6_ENST00000543091.1_Frame_Shift_Del_p.N38fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	38	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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 Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.N38fs*23(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTCTTTGCCATTTGTAGCATCA	0.431																																					p.38_38del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.112_113del	12						.																																			12288800	SO:0001589	frameshift_variant	4040	exon2			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.112_113delAA	12.37:g.12397532_12397533delTT	ENSP00000261349:p.Asn38fs		12288799	NM_002336	Q17RZ2	Frame_Shift_Del	DEL	ENST00000261349.4	37	CCDS8647.1																																																																																				0.431	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
ATF7IP	55729	broad.mit.edu	37	12	14613517	14613517	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:14613517A>G	ENST00000540793.1	+	8	2402	c.2247A>G	c.(2245-2247)gcA>gcG	p.A749A	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Silent_p.A748A|ATF7IP_ENST00000544627.1_Silent_p.A757A|ATF7IP_ENST00000543189.1_Silent_p.A748A|ATF7IP_ENST00000261168.4_Silent_p.A749A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	749	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.A749A(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCCTCACAGCAACGTCAGTTC	0.468																																					p.A749A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2247G	12						.						137.0	128.0	131.0					12																	14613517		2203	4300	6503	14504784	SO:0001819	synonymous_variant	55729	exon9			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2247A>G	12.37:g.14613517A>G			14504784	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	CCDS8663.1																																																																																				0.468	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
SLCO1C1	53919	broad.mit.edu	37	12	20858907	20858907	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:20858907T>G	ENST00000266509.2	+	4	664	c.296T>G	c.(295-297)gTt>gGt	p.V99G	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.V99G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V99G|SLCO1C1_ENST00000545102.1_5'UTR|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V99G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	99					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V99G(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATAACATTTGTTAGCTACTTT	0.363																																					p.V99G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T296G	12						.						128.0	135.0	133.0					12																	20858907		2203	4299	6502	20750174	SO:0001583	missense	53919	exon4			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.296T>G	12.37:g.20858907T>G	ENSP00000266509:p.Val99Gly		20750174	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362684	0.82353	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.01	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	H	0.95745	3.715	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	0.86623	0.1880	10	0.87932	D	0	.	14.892	0.70617	0.0:0.0:0.0:1.0	.	99;99;99	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	G	99	ENSP00000444149:V99G;ENSP00000438665:V99G;ENSP00000266509:V99G;ENSP00000370964:V99G	ENSP00000266509:V99G	V	+	2	0	SLCO1C1	20750174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.525000	0.81892	2.097000	0.63578	0.533000	0.62120	GTT		0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
SLCO1B3	28234	broad.mit.edu	37	12	21032433	21032433	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:21032433T>A	ENST00000381545.3	+	11	1418	c.1199T>A	c.(1198-1200)tTc>tAc	p.F400Y	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F400Y|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F400Y|LST3_ENST00000540229.1_Missense_Mutation_p.F400Y|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	400					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.F400Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATTAAAAAATTCAAATTGTCT	0.299																																					p.F400Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1199A	12						.						68.0	68.0	68.0					12																	21032433		2203	4300	6503	20923700	SO:0001583	missense	28234	exon10				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1199T>A	12.37:g.21032433T>A	ENSP00000370956:p.Phe400Tyr		20923700	NM_019844	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.969775	0.34754	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	3.49	2.23	0.28157	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.316966	0.34046	N	0.004313	T	0.51143	0.1657	M	0.71920	2.185	0.42222	D	0.991855	D;B;B	0.59767	0.986;0.31;0.201	P;B;B	0.61275	0.886;0.268;0.196	T	0.51132	-0.8744	10	0.41790	T	0.15	.	4.0252	0.09683	0.2634:0.0:0.1769:0.5597	.	400;400;400	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	Y	400;400;400;224;400	ENSP00000261196:F400Y;ENSP00000370956:F400Y;ENSP00000451758:F400Y;ENSP00000443225:F224Y;ENSP00000441269:F400Y	ENSP00000441269:F400Y	F	+	2	0	SLCO1B3;RP11-545J16.1	20923700	1.000000	0.71417	0.136000	0.22124	0.200000	0.23975	1.176000	0.31957	1.445000	0.47624	0.254000	0.18369	TTC		0.299	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
SLCO1B7	338821	broad.mit.edu	37	12	21229417	21229417	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:21229417T>C	ENST00000421593.2	+	12	1638	c.1638T>C	c.(1636-1638)gcT>gcC	p.A546A	LST3_ENST00000381541.3_Silent_p.A593A|SLCO1B3_ENST00000553473.1_Silent_p.A654A|LST3_ENST00000540229.1_Silent_p.A654A|SLCO1B7_ENST00000554957.1_Silent_p.A593A|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.L47P	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	546						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A546A(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTTTGGGGCTCTGATTGATA	0.388																																					p.A546A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1638C	12						.						181.0	190.0	187.0					12																	21229417		2203	4300	6503	21120684	SO:0001819	synonymous_variant	28234	exon12			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1638T>C	12.37:g.21229417T>C			21120684	NM_001009562	Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.388	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
CASC1	55259	broad.mit.edu	37	12	25272234	25272234	+	Splice_Site	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:25272234A>G	ENST00000320267.9	-	11	1304	c.1223T>C	c.(1222-1224)aTa>aCa	p.I408T	CASC1_ENST00000395987.3_Splice_Site_p.I414T|CASC1_ENST00000545133.1_Splice_Site_p.I349T|CASC1_ENST00000354189.5_Splice_Site_p.I472T|CASC1_ENST00000395990.2_Splice_Site_p.I368T|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Splice_Site_p.I296T	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	408								p.I414T(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCTTTGAGTATCTTTTTAAA	0.328																																					p.I472T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1415C	12						.						91.0	86.0	88.0					12																	25272234		2203	4298	6501	25163501	SO:0001630	splice_region_variant	55259	exon12			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1222-1T>C	12.37:g.25272234A>G			25163501	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762316	0.49468	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	T;T;T;T;T	0.44482	0.92;1.53;1.53;0.96;0.96	4.62	4.62	0.57501	Casc1 domain (1);	0.305004	0.33670	N	0.004661	T	0.43456	0.1248	L	0.60455	1.87	0.33605	D	0.602847	P;P;P;P;P	0.51653	0.947;0.867;0.822;0.891;0.867	P;B;B;P;B	0.50590	0.645;0.382;0.291;0.516;0.382	T	0.49716	-0.8910	10	0.06757	T	0.87	-20.631	11.5205	0.50549	1.0:0.0:0.0:0.0	.	296;349;472;408;414	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	T	472;414;408;368;296;414;349;218	ENSP00000346126:I472T;ENSP00000379310:I414T;ENSP00000313141:I408T;ENSP00000379313:I368T;ENSP00000437373:I349T	ENSP00000313141:I408T	I	-	2	0	CASC1	25163501	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	5.460000	0.66691	1.937000	0.56155	0.533000	0.62120	ATA		0.328	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	Missense_Mutation
ASUN	55726	broad.mit.edu	37	12	27066601	27066601	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:27066601T>C	ENST00000261191.7	-	14	2130	c.1594A>G	c.(1594-1596)Atg>Gtg	p.M532V	ASUN_ENST00000539625.1_Missense_Mutation_p.M431V	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	532					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M532V(1)									TCATTCCACATGATACGGTAT	0.368																																					p.M532V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1594G	12						.						230.0	229.0	230.0					12																	27066601		2203	4300	6503	26957868	SO:0001583	missense	55726	exon14			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1594A>G	12.37:g.27066601T>C	ENSP00000261191:p.Met532Val		26957868	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801307	0.70567	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.41065	1.01;1.01;1.01	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.61703	1.905	0.58432	D	0.999999	P;P	0.50156	0.932;0.906	D;P	0.67103	0.949;0.626	T	0.63686	-0.6581	10	0.72032	D	0.01	-19.8561	13.8637	0.63576	0.0:0.0:0.0:1.0	.	532;431	Q9NVM9;B4DNK1	M89BB_HUMAN;.	V	179;532;431;119;29	ENSP00000445645:M179V;ENSP00000261191:M532V;ENSP00000443724:M431V	ENSP00000261190:M29V	M	-	1	0	C12orf11	26957868	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.701000	0.84566	2.057000	0.61298	0.482000	0.46254	ATG		0.368	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
ASUN	55726	broad.mit.edu	37	12	27069026	27069026	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:27069026delA	ENST00000261191.7	-	11	1693	c.1157delT	c.(1156-1158)ttgfs	p.L386fs	ASUN_ENST00000539625.1_Frame_Shift_Del_p.L285fs	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	386					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L386fs*11(1)									AAGGACGTGCAAAAAAATCTC	0.408																																					p.L386fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1157delT	12						.						101.0	88.0	92.0					12																	27069026		2203	4300	6503	26960293	SO:0001589	frameshift_variant	55726	exon11			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1157delT	12.37:g.27069026delA	ENSP00000261191:p.Leu386fs		26960293	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Frame_Shift_Del	DEL	ENST00000261191.7	37	CCDS8708.1																																																																																				0.408	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
TMTC1	83857	broad.mit.edu	37	12	29659813	29659813	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:29659813C>T	ENST00000539277.1	-	18	2673	c.2615G>A	c.(2614-2616)cGa>cAa	p.R872Q	TMTC1_ENST00000551659.1_Missense_Mutation_p.R934Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.R896Q|TMTC1_ENST00000256062.5_Missense_Mutation_p.R764Q|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	872						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R764Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTCTTGTAATCGTTTTTCTAG	0.448																																					p.R872Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2615A	12						.						287.0	275.0	279.0					12																	29659813		2203	4300	6503	29551080	SO:0001583	missense	83857	exon18				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2615G>A	12.37:g.29659813C>T	ENSP00000442046:p.Arg872Gln		29551080	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011948	0.93346	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.68903	-0.36;-0.17;-0.36;-0.24	5.13	5.13	0.70059	.	0.054615	0.64402	D	0.000001	T	0.78078	0.4227	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.63877	0.77;0.864;0.919	T	0.80178	-0.1490	10	0.66056	D	0.02	-11.949	17.1565	0.86792	0.0:1.0:0.0:0.0	.	872;934;217	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	Q	635;764;934;896;872	ENSP00000256062:R764Q;ENSP00000448112:R934Q;ENSP00000449043:R896Q;ENSP00000442046:R872Q	ENSP00000256062:R764Q	R	-	2	0	TMTC1	29551080	1.000000	0.71417	0.683000	0.30040	0.991000	0.79684	4.758000	0.62220	2.386000	0.81285	0.650000	0.86243	CGA		0.448	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
CAPRIN2	65981	broad.mit.edu	37	12	30863013	30863013	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:30863013C>A	ENST00000298892.5	-	17	3807	c.3057G>T	c.(3055-3057)gaG>gaT	p.E1019D	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E1069D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E735D|CAPRIN2_ENST00000395805.2_3'UTR	NM_023925.3	NP_076414.2			caprin family member 2									p.E1069D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATACCAAGACCTCTTCATTCT	0.438																																					p.E1069D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3207T	12						.						117.0	106.0	109.0					12																	30863013		2203	4300	6503	30754280	SO:0001583	missense	65981	exon18			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.3057G>T	12.37:g.30863013C>A	ENSP00000298892:p.Glu1019Asp		30754280	NM_001002259		Missense_Mutation	SNP	ENST00000298892.5	37	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828128	0.71143	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	T;T;T	0.75477	-0.94;-0.94;-0.94	5.7	2.74	0.32292	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	N	0.25094	0.71	0.42079	D	0.99124	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.76664	-0.2876	10	0.87932	D	0	-14.147	10.7797	0.46371	0.0:0.7817:0.0:0.2183	.	1069;1019	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	D	1019;1069;735	ENSP00000298892:E1019D;ENSP00000251071:E1069D;ENSP00000309785:E735D	ENSP00000251071:E1069D	E	-	3	2	CAPRIN2	30754280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.244000	0.32778	0.686000	0.31488	-0.345000	0.07892	GAG		0.438	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925	
TSPAN11	441631	broad.mit.edu	37	12	31116857	31116857	+	Missense_Mutation	SNP	G	G	A	rs200227003		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:31116857G>A	ENST00000261177.9	+	3	240	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	TSPAN11_ENST00000544427.1_Missense_Mutation_p.A51T|TSPAN11_ENST00000546076.1_Missense_Mutation_p.A61T|TSPAN11_ENST00000535215.1_5'UTR	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	61						integral component of membrane (GO:0016021)		p.A61T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCCGCCTCCGCCTACATCCT	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18053	0.0		0.0	False		,,,				2504	0.0				p.A61T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181A	12						.	G	THR/ALA	0,4406		0,0,2203	166.0	149.0	155.0		181	2.6	0.8	12		155	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TSPAN11	NM_001080509.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	61/254	31116857	1,13005	2203	4300	6503	31008124	SO:0001583	missense	441631	exon3				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.181G>A	12.37:g.31116857G>A	ENSP00000261177:p.Ala61Thr		31008124	NM_001080509	A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	CCDS31765.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	15.84	2.950588	0.53186	0.0	1.16E-4	ENSG00000110900	ENST00000546076;ENST00000544427;ENST00000261177	T;T;T	0.79141	-1.24;-1.24;-1.24	3.5	2.6	0.31112	.	0.070475	0.56097	N	0.000031	T	0.69726	0.3143	M	0.79258	2.445	0.48632	D	0.999685	B;B	0.25351	0.094;0.124	B;B	0.31191	0.026;0.125	T	0.68511	-0.5389	10	0.40728	T	0.16	.	8.8961	0.35465	0.1181:0.0:0.8819:0.0	.	51;61	F5H0F0;A1L157	.;TSN11_HUMAN	T	61;51;61	ENSP00000437403:A61T;ENSP00000439895:A51T;ENSP00000261177:A61T	ENSP00000261177:A61T	A	+	1	0	TSPAN11	31008124	1.000000	0.71417	0.826000	0.32828	0.920000	0.55202	4.999000	0.63934	0.572000	0.29383	0.457000	0.33378	GCC		0.652	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334	
DENND5B	160518	broad.mit.edu	37	12	31577500	31577500	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:31577500C>A	ENST00000389082.5	-	10	2624	c.2360G>T	c.(2359-2361)aGg>aTg	p.R787M	DENND5B_ENST00000306833.6_Missense_Mutation_p.R822M|DENND5B_ENST00000536562.1_Missense_Mutation_p.R822M	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	787	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R787M(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCTCCATATCCTCTCCAGCAG	0.517																																					p.R787M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2360T	12						.						141.0	136.0	137.0					12																	31577500		2028	4220	6248	31468767	SO:0001583	missense	160518	exon10			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2360G>T	12.37:g.31577500C>A	ENSP00000373734:p.Arg787Met		31468767	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924471	0.92319	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.31510	1.49;1.49;1.49	4.78	4.78	0.61160	RUN (2);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68671	-0.5347	10	0.87932	D	0	-0.5428	18.3596	0.90371	0.0:1.0:0.0:0.0	.	787;822	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	M	787;822;822	ENSP00000373734:R787M;ENSP00000306482:R822M;ENSP00000444889:R822M	ENSP00000306482:R822M	R	-	2	0	DENND5B	31468767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.316000	0.79007	2.631000	0.89168	0.655000	0.94253	AGG		0.517	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
KIAA1551	55196	broad.mit.edu	37	12	32134596	32134596	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:32134596T>C	ENST00000312561.4	+	4	1121	c.707T>C	c.(706-708)tTt>tCt	p.F236S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	236								p.F236S(1)									AAACAAAACTTTATACCACAT	0.378																																					p.F236S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T707C	12						.						57.0	59.0	58.0					12																	32134596		2203	4299	6502	32025863	SO:0001583	missense	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.707T>C	12.37:g.32134596T>C	ENSP00000310338:p.Phe236Ser		32025863	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	T	3.381	-0.126313	0.06795	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05319	4.1;3.46	5.31	0.768	0.18487	.	0.964156	0.08447	N	0.944582	T	0.03220	0.0094	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48692	-0.9013	9	.	.	.	.	11.6531	0.51301	0.0:0.8853:0.0:0.1147	.	236	Q9HCM1	CL035_HUMAN	S	236	ENSP00000310338:F236S;ENSP00000370442:F236S	.	F	+	2	0	C12orf35	32025863	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.565000	0.23578	-0.168000	0.10853	-0.248000	0.11899	TTT		0.378	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
LRRK2	120892	broad.mit.edu	37	12	40713870	40713870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:40713870delA	ENST00000298910.7	+	34	4966	c.4908delA	c.(4906-4908)tcafs	p.S1636fs		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1636					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.R1639fs*15(1)|p.R1651fs*15(1)		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)				AATTTCTTTCAAAAAAAAGGA	0.353											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S1636fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.4908delA	12						.						54.0	64.0	61.0					12																	40713870		2200	4295	6495	39000137	SO:0001589	frameshift_variant	120892	exon34			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.4908delA	12.37:g.40713870delA	ENSP00000298910:p.Ser1636fs	895	39000137	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	ENST00000298910.7	37	CCDS31774.1																																																																																				0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
PDZRN4	29951	broad.mit.edu	37	12	41949501	41949501	+	Splice_Site	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:41949501T>G	ENST00000402685.2	+	7	1312	c.1304T>G	c.(1303-1305)gTt>gGt	p.V435G	PDZRN4_ENST00000298919.7_Splice_Site_p.V175G|PDZRN4_ENST00000539469.2_Splice_Site_p.V177G	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	435	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V435G(1)|p.V177G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCATTACAGGTTGACCCAAAT	0.388																																					p.V435G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1304G	12						.						147.0	140.0	142.0					12																	41949501		2203	4300	6503	40235768	SO:0001630	splice_region_variant	29951	exon7			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1303-1T>G	12.37:g.41949501T>G			40235768	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958215	0.53400	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.60797	0.16;0.16;0.16	5.16	3.99	0.46301	PDZ/DHR/GLGF (4);	0.083689	0.49916	N	0.000132	T	0.80649	0.4663	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.992;0.989	D	0.84939	0.0864	10	0.87932	D	0	-22.2623	12.6981	0.57016	0.0:0.0:0.138:0.862	.	435;175;177	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	G	435;177;175	ENSP00000384197:V435G;ENSP00000439990:V177G;ENSP00000298919:V175G	ENSP00000298919:V175G	V	+	2	0	PDZRN4	40235768	1.000000	0.71417	0.987000	0.45799	0.235000	0.25334	7.932000	0.87634	1.030000	0.39839	0.528000	0.53228	GTT		0.388	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	Missense_Mutation
PDZRN4	29951	broad.mit.edu	37	12	41966383	41966383	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:41966383A>G	ENST00000402685.2	+	10	1810	c.1802A>G	c.(1801-1803)cAg>cGg	p.Q601R	PDZRN4_ENST00000298919.7_Missense_Mutation_p.Q341R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q343R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	601							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q343R(1)|p.Q601R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTTGAACTTCAGTACAATGAG	0.498																																					p.Q601R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1802G	12						.						82.0	81.0	81.0					12																	41966383		2203	4300	6503	40252650	SO:0001583	missense	29951	exon10			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1802A>G	12.37:g.41966383A>G	ENSP00000384197:p.Gln601Arg		40252650	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	2.822	-0.244551	0.05906	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72282	-0.64;3.83;3.83	4.64	3.46	0.39613	.	0.083691	0.51477	D	0.000090	T	0.50633	0.1627	L	0.37630	1.12	0.34099	D	0.661643	P;B;B	0.44734	0.842;0.171;0.033	B;B;B	0.35114	0.196;0.059;0.037	T	0.60870	-0.7177	10	0.02654	T	1	-27.6532	11.8162	0.52211	0.8529:0.1471:0.0:0.0	.	601;341;343	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	R	601;343;341	ENSP00000384197:Q601R;ENSP00000439990:Q343R;ENSP00000298919:Q341R	ENSP00000298919:Q341R	Q	+	2	0	PDZRN4	40252650	1.000000	0.71417	0.580000	0.28601	0.663000	0.39108	3.629000	0.54266	0.855000	0.35359	0.528000	0.53228	CAG		0.498	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
ANO6	196527	broad.mit.edu	37	12	45823031	45823031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:45823031delG	ENST00000320560.8	+	20	2872	c.2670delG	c.(2668-2670)atgfs	p.M890fs	ANO6_ENST00000425752.2_Intron|ANO6_ENST00000441606.2_Frame_Shift_Del_p.M872fs|ANO6_ENST00000423947.3_Frame_Shift_Del_p.M911fs|ANO6_ENST00000435642.1_Intron	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	890					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.V892fs*1(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CGAAAAATATGGGGGTGATAG	0.383																																					p.M890fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2670delG	12						.						52.0	51.0	51.0					12																	45823031		2203	4300	6503	44109298	SO:0001589	frameshift_variant	196527	exon20			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2670delG	12.37:g.45823031delG	ENSP00000320087:p.Met890fs		44109298	NM_001025356	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Frame_Shift_Del	DEL	ENST00000320560.8	37	CCDS31782.1																																																																																				0.383	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
PCED1B	91523	broad.mit.edu	37	12	47472385	47472385	+	5'Flank	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:47472385delT	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Frame_Shift_Del_p.N134fs|AMIGO2_ENST00000550413.1_Frame_Shift_Del_p.N134fs|AMIGO2_ENST00000429635.1_Frame_Shift_Del_p.N134fs|AMIGO2_ENST00000321382.3_Frame_Shift_Del_p.N134fs			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.N134fs*7(1)									GAATACAGCATTTTTCACCGT	0.438																																					p.N134fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.401delA	12						.						131.0	131.0	131.0					12																	47472385		2203	4300	6503	45758652	SO:0001631	upstream_gene_variant	347902	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472385delT	Exception_encountered		45758652	NM_181847	Q96B20	Frame_Shift_Del	DEL	ENST00000546455.1	37	CCDS8752.1																																																																																				0.438	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
SENP1	29843	broad.mit.edu	37	12	48458896	48458896	+	Frame_Shift_Del	DEL	T	T	-	rs192825742	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:48458896delT	ENST00000004980.5	-	12	1705	c.1227delA	c.(1225-1227)aaafs	p.K409fs	SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	409					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATTTATGACCTTTTTTTTGTG	0.338																																					p.K409fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|pancreas(1)	c.1227delA	12						.						122.0	116.0	118.0					12																	48458896		1835	4078	5913	46745163	SO:0001589	frameshift_variant	29843	exon12			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1227delA	12.37:g.48458896delT	ENSP00000004980:p.Lys409fs		46745163	NM_014554	A8K7P5|Q86XC8	Frame_Shift_Del	DEL	ENST00000004980.5	37	CCDS44868.2																																																																																				0.338	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	
SCN8A	6334	broad.mit.edu	37	12	52093400	52093400	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:52093400G>A	ENST00000354534.6	+	7	931	c.753G>A	c.(751-753)ctG>ctA	p.L251L	SCN8A_ENST00000545061.1_Silent_p.L251L|SCN8A_ENST00000550891.1_Silent_p.L251L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	251					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.L251L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGAAGAAACTGTCAGATGTGA	0.522																																					p.L251L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G753A	12						.						105.0	102.0	103.0					12																	52093400		2109	4274	6383	50379667	SO:0001819	synonymous_variant	6334	exon7			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.753G>A	12.37:g.52093400G>A			50379667	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																				0.522	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
KRT5	3852	broad.mit.edu	37	12	52913759	52913759	+	Missense_Mutation	SNP	C	C	T	rs146022149	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:52913759C>T	ENST00000252242.4	-	1	712	c.322G>A	c.(322-324)Ggc>Agc	p.G108S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	108	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.G108S(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		gctccaccgccgaaaccaaat	0.617													C|||	7	0.00139776	0.0045	0.0	5008	,	,		15895	0.001		0.0	False		,,,				2504	0.0				p.G108S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	12						.	C	SER/GLY	19,4387	25.3+/-52.1	0,19,2184	112.0	122.0	119.0		322	4.9	0.7	12	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KRT5	NM_000424.3	56	0,21,6482	TT,TC,CC		0.0233,0.4312,0.1615	probably-damaging	108/591	52913759	21,12985	2203	4300	6503	51200026	SO:0001583	missense	3852	exon1				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.322G>A	12.37:g.52913759C>T	ENSP00000252242:p.Gly108Ser		51200026	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	17.14	3.312444	0.60414	0.004312	2.33E-4	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000551275;ENST00000546577	D;D;T	0.93247	-3.19;-2.19;0.66	5.81	4.9	0.64082	.	0.000000	0.52532	D	0.000067	D	0.85044	0.5607	N	0.17345	0.48	0.41269	D	0.986838	D	0.53151	0.958	B	0.35039	0.194	D	0.84677	0.0715	10	0.27082	T	0.32	.	16.1225	0.81369	0.1347:0.8653:0.0:0.0	.	108	P13647	K2C5_HUMAN	S	108;73;73;108	ENSP00000252242:G108S;ENSP00000448041:G73S;ENSP00000449651:G108S	ENSP00000252242:G108S	G	-	1	0	KRT5	51200026	0.887000	0.30362	0.653000	0.29593	0.910000	0.53928	1.808000	0.38912	1.417000	0.47077	0.655000	0.94253	GGC		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRT74	121391	broad.mit.edu	37	12	52967344	52967344	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:52967344T>C	ENST00000305620.2	-	1	265	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	KRT74_ENST00000549343.1_Missense_Mutation_p.Y73C	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	73	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.Y73C(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCTGAAGCCGTAACCTCCAGC	0.622																																					p.Y73C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A218G	12						.						41.0	48.0	46.0					12																	52967344		2203	4300	6503	51253611	SO:0001583	missense	121391	exon1			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.218A>G	12.37:g.52967344T>C	ENSP00000307240:p.Tyr73Cys		51253611	NM_175053	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	T	8.313	0.822650	0.16678	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.39997	1.05;1.05	4.29	1.76	0.24704	.	0.543154	0.13981	N	0.349468	T	0.49915	0.1585	L	0.58510	1.815	0.09310	N	1	D	0.56287	0.975	P	0.54965	0.765	T	0.40117	-0.9580	10	0.29301	T	0.29	.	11.5077	0.50476	0.0:0.0:0.4438:0.5562	.	73	Q7RTS7	K2C74_HUMAN	C	73	ENSP00000447447:Y73C;ENSP00000307240:Y73C	ENSP00000307240:Y73C	Y	-	2	0	KRT74	51253611	0.000000	0.05858	0.006000	0.13384	0.039000	0.13416	0.574000	0.23714	0.227000	0.20999	0.459000	0.35465	TAC		0.622	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
ESPL1	9700	broad.mit.edu	37	12	53683357	53683357	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:53683357C>T	ENST00000257934.4	+	22	5183	c.5092C>T	c.(5092-5094)Cgc>Tgc	p.R1698C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1698C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1698					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.R1698C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTTCCAGGAGCGCCTGGCTCT	0.592																																					p.R1698C	Colon(53;1069 1201 2587 5382)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5092T	12						.						37.0	41.0	39.0					12																	53683357		2203	4300	6503	51969624	SO:0001583	missense	9700	exon22			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5092C>T	12.37:g.53683357C>T	ENSP00000257934:p.Arg1698Cys		51969624	NM_012291		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	5.977	0.364287	0.11296	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11712	2.75;2.75	5.26	2.51	0.30379	.	0.934748	0.09239	N	0.829457	T	0.07324	0.0185	N	0.17082	0.46	0.18873	N	0.999984	B	0.10296	0.003	B	0.01281	0.0	T	0.37865	-0.9687	10	0.46703	T	0.11	.	7.2006	0.25879	0.0:0.7307:0.0:0.2693	.	1698	Q14674	ESPL1_HUMAN	C	1698;1373;1698	ENSP00000257934:R1698C;ENSP00000449831:R1698C	ENSP00000257934:R1698C	R	+	1	0	ESPL1	51969624	0.885000	0.30320	0.379000	0.26080	0.203000	0.24098	1.661000	0.37408	0.389000	0.25086	-0.251000	0.11542	CGC		0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
NPFF	8620	broad.mit.edu	37	12	53897509	53897509	+	IGR	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:53897509C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Silent_p.P113P|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000552857.1_Silent_p.P22P|TARBP2_ENST00000456234.2_Silent_p.P92P|TARBP2_ENST00000394357.2_Silent_p.P92P	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)	p.P113P(1)		haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTTTTTCTCCCCTAGACTCTT	0.552																																					p.P92P												TARBP2,central_nervous_system,brain,Substitution - Missense,+1 	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276T	12						.						109.0	112.0	111.0					12																	53897509		2203	4300	6503	52183776	SO:0001628	intergenic_variant	6895	exon4			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53897509C>T			52183776	NM_004178	Q3SXL4	Silent	SNP	ENST00000267017.3	37	CCDS8862.1																																																																																				0.552	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717	
TESPA1	9840	broad.mit.edu	37	12	55357707	55357707	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:55357707T>G	ENST00000449076.1	-	8	606	c.474A>C	c.(472-474)caA>caC	p.Q158H	TESPA1_ENST00000316577.8_Missense_Mutation_p.Q158H|TESPA1_ENST00000524622.1_Missense_Mutation_p.Q20H|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.Q20H|TESPA1_ENST00000531122.1_Missense_Mutation_p.Q20H	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	158					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.Q158H(1)|p.Q20H(1)									CTGCATCTTCTTGCACTTTGT	0.448																																					p.Q158H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A474C	12						.						150.0	144.0	146.0					12																	55357707		1873	4119	5992	53643974	SO:0001583	missense	9840	exon8			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.474A>C	12.37:g.55357707T>G	ENSP00000400892:p.Gln158His		53643974	NM_001098815	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.531235	0.64972	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532;ENST00000533446	T;T;T;T;T	0.49139	0.79;0.79;0.81;0.81;0.79	4.95	2.66	0.31614	.	0.277704	0.34879	N	0.003606	T	0.52549	0.1741	L	0.40543	1.245	0.37402	D	0.912883	D	0.71674	0.998	D	0.74674	0.984	T	0.57997	-0.7714	10	0.87932	D	0	-0.7628	5.5232	0.16943	0.0:0.2913:0.0:0.7086	.	158	A2RU30	K0748_HUMAN	H	20;20;158;158;20;20;20;20	ENSP00000435622:Q20H;ENSP00000432030:Q20H;ENSP00000400892:Q158H;ENSP00000312679:Q158H;ENSP00000433098:Q20H	ENSP00000312679:Q158H	Q	-	3	2	KIAA0748	53643974	0.948000	0.32251	1.000000	0.80357	0.991000	0.79684	0.489000	0.22387	0.991000	0.38814	0.459000	0.35465	CAA		0.448	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
OR6C74	254783	broad.mit.edu	37	12	55641847	55641847	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:55641847A>G	ENST00000343870.4	+	1	866	c.776A>G	c.(775-777)aAa>aGa	p.K259R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K259R(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATGTATGTGAAACCCTCAGCA	0.403																																					p.K259R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A776G	12						.						72.0	75.0	74.0					12																	55641847		2202	4299	6501	53928114	SO:0001583	missense	254783	exon1				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.776A>G	12.37:g.55641847A>G	ENSP00000342836:p.Lys259Arg		53928114	NM_001005490		Missense_Mutation	SNP	ENST00000343870.4	37	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	a	18.97	3.736529	0.69304	.	.	ENSG00000197706	ENST00000343870	T	0.36520	1.25	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.109289	0.40385	N	0.001101	T	0.33527	0.0866	N	0.16368	0.405	0.25322	N	0.989109	P	0.46621	0.881	P	0.52710	0.707	T	0.18777	-1.0326	10	0.62326	D	0.03	.	9.2474	0.37534	0.9178:0.0:0.0822:0.0	.	259	A6NCV1	O6C74_HUMAN	R	259	ENSP00000342836:K259R	ENSP00000342836:K259R	K	+	2	0	OR6C74	53928114	0.000000	0.05858	0.987000	0.45799	0.957000	0.61999	-0.042000	0.12063	2.200000	0.70718	0.455000	0.32223	AAA		0.403	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1		
OR6C65	403282	broad.mit.edu	37	12	55795049	55795049	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:55795049T>G	ENST00000379665.2	+	1	836	c.737T>G	c.(736-738)gTt>gGt	p.V246G		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V246G(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGATTGTGGTTTCTGTTTCT	0.393																																					p.V246G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T737G	12						.						120.0	110.0	114.0					12																	55795049		2203	4300	6503	54081316	SO:0001583	missense	403282	exon1				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.737T>G	12.37:g.55795049T>G	ENSP00000368986:p.Val246Gly		54081316	NM_001005518	B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213407	0.39102	.	.	ENSG00000205328	ENST00000379665	T	0.00366	7.79	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	U	0.002935	T	0.02012	0.0063	H	0.99261	4.49	0.09310	N	0.999992	D	0.69078	0.997	D	0.74674	0.984	T	0.20240	-1.0281	10	0.87932	D	0	.	12.5249	0.56081	0.0:0.0:0.0:1.0	.	246	A6NJZ3	O6C65_HUMAN	G	246	ENSP00000368986:V246G	ENSP00000368986:V246G	V	+	2	0	OR6C65	54081316	0.694000	0.27738	0.810000	0.32431	0.561000	0.35649	5.131000	0.64751	1.688000	0.51068	0.348000	0.21847	GTT		0.393	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1		
MYL6B	140465	broad.mit.edu	37	12	56548926	56548926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:56548926G>A	ENST00000553066.1	+	4	712	c.290G>A	c.(289-291)gGc>gAc	p.G97D	MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.G97D|MYL6B_ENST00000552568.1_Missense_Mutation_p.G97D|MYL6B_ENST00000207437.5_Missense_Mutation_p.G97D|RP11-603J24.14_ENST00000548731.1_RNA			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	97	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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.G97D(1)		endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGGCCCTGGGCCAGAACCCC	0.547																																					p.G97D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	12						.						112.0	119.0	116.0					12																	56548926		2203	4300	6503	54835193	SO:0001583	missense	140465	exon4			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.290G>A	12.37:g.56548926G>A	ENSP00000450385:p.Gly97Asp		54835193	NM_001199629		Missense_Mutation	SNP	ENST00000553066.1	37	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434601	0.83885	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.28	4.28	0.50868	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90883	0.4755	10	0.87932	D	0	-19.1541	16.0117	0.80406	0.0:0.0:1.0:0.0	.	97;97	B4E368;P14649	.;MYL6B_HUMAN	D	97	ENSP00000450385:G97D;ENSP00000446643:G97D;ENSP00000207437:G97D;ENSP00000446965:G97D	ENSP00000207437:G97D	G	+	2	0	MYL6B	54835193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.375000	0.97178	2.390000	0.81377	0.484000	0.47621	GGC		0.547	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475	
MYL6	4637	broad.mit.edu	37	12	56553877	56553877	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:56553877G>A	ENST00000550697.1	+	4	535	c.294G>A	c.(292-294)aaG>aaA	p.K98K	MYL6_ENST00000547649.1_Silent_p.K98K|MYL6_ENST00000348108.4_Silent_p.K99K|MYL6_ENST00000536128.1_Silent_p.K191K|MYL6_ENST00000548400.1_Silent_p.K62K|MYL6_ENST00000547408.1_Silent_p.K98K|MYL6_ENST00000293422.5_Silent_p.K99K|MYL6_ENST00000548580.1_Silent_p.K50K|MYL6_ENST00000548293.1_Silent_p.K98K|MYL6_ENST00000551589.1_Silent_p.K98K|RP11-603J24.14_ENST00000548731.1_RNA|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000549566.1_Silent_p.K143K	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	98	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|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)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K98K(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TGTTTGACAAGGAAGGAAATG	0.522																																					p.K98K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294A	12						.						83.0	80.0	81.0					12																	56553877		2203	4300	6503	54840144	SO:0001819	synonymous_variant	4637	exon4			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.294G>A	12.37:g.56553877G>A			54840144	NM_021019	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Silent	SNP	ENST00000550697.1	37	CCDS8906.1																																																																																				0.522	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3		
SMARCC2	6601	broad.mit.edu	37	12	56565665	56565665	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:56565665G>A	ENST00000267064.4	-	20	1976	c.1890C>T	c.(1888-1890)cgC>cgT	p.R630R	SMARCC2_ENST00000394023.3_Silent_p.R661R|SMARCC2_ENST00000347471.4_Silent_p.R661R|SMARCC2_ENST00000550164.1_Silent_p.R661R|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	630	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R630R(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CGTCCTGTGTGCGGCTTCCCA	0.532																																					p.R661R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1983T	12						.						97.0	81.0	86.0					12																	56565665		2203	4300	6503	54851932	SO:0001819	synonymous_variant	6601	exon21			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1890C>T	12.37:g.56565665G>A			54851932	NM_139067	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	CCDS8907.1																																																																																				0.532	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
ANKRD52	283373	broad.mit.edu	37	12	56648407	56648407	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:56648407A>G	ENST00000267116.7	-	7	769	c.648T>C	c.(646-648)agT>agC	p.S216S		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	216								p.S216S(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CAATCTGGCCACTGGCAGCAG	0.582																																					p.S216S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T648C	12						.						38.0	39.0	39.0					12																	56648407		1999	4200	6199	54934674	SO:0001819	synonymous_variant	283373	exon7			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.648T>C	12.37:g.56648407A>G			54934674	NM_173595	A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	CCDS44920.1																																																																																				0.582	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
TIMELESS	8914	broad.mit.edu	37	12	56815227	56815227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:56815227G>A	ENST00000553532.1	-	23	2926	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.R423*|TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.R925*					timeless circadian clock									p.R926*(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCACTATTCGGGCCCGTGAG	0.483																																					p.R926X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2776T	12						.						138.0	138.0	138.0					12																	56815227		2203	4300	6503	55101494	SO:0001587	stop_gained	8914	exon23			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2776C>T	12.37:g.56815227G>A	ENSP00000450607:p.Arg926*		55101494	NM_003920		Nonsense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	41	9.150047	0.99082	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6986	13.2932	0.60282	0.0:0.0:0.8413:0.1587	.	.	.	.	X	925;926;423	.	ENSP00000229201:R926X	R	-	1	2	TIMELESS	55101494	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	4.878000	0.63093	2.700000	0.92200	0.555000	0.69702	CGA		0.483	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	
DCTN2	10540	broad.mit.edu	37	12	57926560	57926560	+	Missense_Mutation	SNP	C	C	T	rs141248212	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:57926560C>T	ENST00000548249.1	-	10	1075	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	DCTN2_ENST00000543672.1_Missense_Mutation_p.A275T|DCTN2_ENST00000537439.1_Missense_Mutation_p.A247T|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000434715.3_Missense_Mutation_p.A275T	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	270					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.A275T(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						AGGTCTAGGGCGCTCACCTTT	0.493													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19050	0.0		0.0	False		,,,				2504	0.0				p.R270H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G809A	12						.	C	THR/ALA	11,3833		0,11,1911	83.0	79.0	80.0		823	2.4	1.0	12	dbSNP_134	80	0,8286		0,0,4143	yes	missense	DCTN2	NM_006400.3	58	0,11,6054	TT,TC,CC		0.0,0.2862,0.0907	benign	275/407	57926560	11,12119	1922	4143	6065	56212827	SO:0001583	missense	10540	exon10			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.808G>A	12.37:g.57926560C>T	ENSP00000447824:p.Ala270Thr		56212827	NM_006400	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	15.41	2.825319	0.50739	0.002862	0.0	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000550086	.	.	.	5.18	2.36	0.29203	.	0.113945	0.64402	D	0.000017	T	0.31918	0.0812	L	0.47716	1.5	0.45056	D	0.998072	B;B;B	0.13594	0.003;0.008;0.004	B;B;B	0.08055	0.002;0.002;0.003	T	0.08617	-1.0713	9	0.09590	T	0.72	-5.9565	4.5941	0.12322	0.418:0.4181:0.0:0.1639	.	270;275;270	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	T	270;275;275;247;270;183;111	.	ENSP00000346785:A270T	A	-	1	0	DCTN2	56212827	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	0.852000	0.27764	0.873000	0.35799	0.557000	0.71058	GCC		0.493	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400	
AVIL	10677	broad.mit.edu	37	12	58197056	58197056	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:58197056C>T	ENST00000257861.3	-	15	2366	c.1936G>A	c.(1936-1938)Gtg>Atg	p.V646M	AVIL_ENST00000550083.1_5'Flank|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.V639M|RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	646	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.V646M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGGAGCATCACGTCAGTAGGG	0.478											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V646M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1936A	12						.						221.0	194.0	203.0					12																	58197056		2203	4300	6503	56483323	SO:0001583	missense	10677	exon15			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1936G>A	12.37:g.58197056C>T	ENSP00000257861:p.Val646Met	1029	56483323	NM_006576	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724369	0.48728	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.59224	0.28;0.28	4.74	3.84	0.44239	Gelsolin domain (1);	0.121611	0.56097	D	0.000040	T	0.78830	0.4345	M	0.90483	3.12	0.53005	D	0.999969	D;D	0.76494	0.999;0.998	D;D	0.70227	0.968;0.968	D	0.83827	0.0250	10	0.87932	D	0	-12.985	13.8958	0.63770	0.0:0.8457:0.1543:0.0	.	639;646	O75366-2;O75366	.;AVIL_HUMAN	M	639;646	ENSP00000443207:V639M;ENSP00000257861:V646M	ENSP00000257861:V646M	V	-	1	0	AVIL	56483323	1.000000	0.71417	0.752000	0.31206	0.078000	0.17371	7.605000	0.82844	1.196000	0.43129	-0.305000	0.09177	GTG		0.478	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																					p.F124fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.370delT	12						.						118.0	114.0	115.0					12																	64812755		2203	4300	6503	63099022	SO:0001589	frameshift_variant	11260	exon6			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs		63099022	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	ENST00000332707.5	37	CCDS31852.1																																																																																				0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
HELB	92797	broad.mit.edu	37	12	66703798	66703798	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:66703798G>A	ENST00000247815.4	+	4	1149	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	364					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.A364T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGAGCCATCGCCTTTTCAAT	0.428																																					p.A364T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090A	12						.						213.0	211.0	212.0					12																	66703798		2203	4300	6503	64990065	SO:0001583	missense	92797	exon4			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1090G>A	12.37:g.66703798G>A	ENSP00000247815:p.Ala364Thr		64990065	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918433	0.73098	.	.	ENSG00000127311	ENST00000247815	T	0.56941	0.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.71581	2.175	0.53688	D	0.999974	D	0.89917	1.0	D	0.75020	0.985	T	0.69555	-0.5114	9	.	.	.	-20.8309	20.8794	0.99867	0.0:0.0:1.0:0.0	.	364	Q8NG08	HELB_HUMAN	T	364	ENSP00000247815:A364T	.	A	+	1	0	HELB	64990065	1.000000	0.71417	0.984000	0.44739	0.008000	0.06430	7.562000	0.82300	2.941000	0.99782	0.655000	0.94253	GCC		0.428	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
RAP1B	5908	broad.mit.edu	37	12	69044226	69044226	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:69044226C>T	ENST00000250559.9	+	3	335	c.104C>T	c.(103-105)aCg>aTg	p.T35M	RAP1B_ENST00000543697.1_Missense_Mutation_p.T35M|RAP1B_ENST00000393436.5_Missense_Mutation_p.T35M|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.T35M|RAP1B_ENST00000541216.1_Missense_Mutation_p.T35M|RAP1B_ENST00000540209.1_Missense_Mutation_p.T35M|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000537460.1_Missense_Mutation_p.T35M|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000341355.5_Missense_Mutation_p.T35M	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	35	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.T35M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TACGATCCTACGATAGAAGAT	0.239																																					p.T35M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C104T	12						.						24.0	28.0	27.0					12																	69044226		2174	4271	6445	67330493	SO:0001583	missense	5908	exon3				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.104C>T	12.37:g.69044226C>T	ENSP00000250559:p.Thr35Met		67330493	NM_015646	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833419	0.91036	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	D;D;D;D;D;D;D;D;D;D;D;T;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-1.21;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.35	5.35	0.76521	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	H	0.99475	4.585	0.80722	D	1	P;D;P	0.54207	0.683;0.965;0.846	P;P;P	0.54499	0.563;0.754;0.703	D	0.97507	1.0064	9	.	.	.	.	19.9476	0.97189	0.0:1.0:0.0:0.0	.	35;35;35	B4DW94;B4DQI8;P61224	.;.;RAP1B_HUMAN	M	35	ENSP00000250559:T35M;ENSP00000377085:T35M;ENSP00000401095:T35M;ENSP00000445138:T35M;ENSP00000444786:T35M;ENSP00000441275:T35M;ENSP00000439966:T35M;ENSP00000437415:T35M;ENSP00000438088:T35M;ENSP00000441952:T35M;ENSP00000444060:T35M;ENSP00000446318:T35M;ENSP00000440466:T35M;ENSP00000440014:T35M;ENSP00000444924:T35M;ENSP00000440635:T35M;ENSP00000440708:T35M;ENSP00000438311:T35M;ENSP00000443851:T35M	.	T	+	2	0	RAP1B	67330493	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.775000	0.68915	2.890000	0.99128	0.585000	0.79938	ACG		0.239	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942	
LGR5	8549	broad.mit.edu	37	12	71946884	71946884	+	Frame_Shift_Del	DEL	C	C	-	rs373436137		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:71946884delC	ENST00000266674.5	+	5	771	c.460delC	c.(460-462)cccfs	p.P155fs	LGR5_ENST00000540815.2_Frame_Shift_Del_p.P155fs|LGR5_ENST00000536515.1_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	155					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.P155fs*10(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGCTATGTGCCCCCAAGCTG	0.498																																					p.P154fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.460delC	12						.						98.0	91.0	93.0					12																	71946884		2203	4300	6503	70233151	SO:0001589	frameshift_variant	8549	exon5			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.460delC	12.37:g.71946884delC	ENSP00000266674:p.Pro155fs		70233151	NM_003667	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Frame_Shift_Del	DEL	ENST00000266674.5	37	CCDS9000.1																																																																																				0.498	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	
TBC1D15	64786	broad.mit.edu	37	12	72278686	72278686	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:72278686T>C	ENST00000550746.1	+	5	503	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.W155R|TBC1D15_ENST00000485960.2_Missense_Mutation_p.W147R	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	147					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.W147R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTATGGGCTGGTCCTATTT	0.393																																					p.W155R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T463C	12						.						234.0	228.0	230.0					12																	72278686		2203	4300	6503	70564953	SO:0001583	missense	64786	exon6			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.439T>C	12.37:g.72278686T>C	ENSP00000448182:p.Trp147Arg		70564953	NM_001146214	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160821	0.78226	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.76	5.76	0.90799	Domain of unknown function DUF3548 (1);	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.49062	-0.8978	10	0.54805	T	0.06	-5.5108	16.0665	0.80887	0.0:0.0:0.0:1.0	.	155;147;147	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	R	48;147;48;155;147	ENSP00000449643:W48R;ENSP00000448182:W147R;ENSP00000418091:W48R;ENSP00000318262:W155R;ENSP00000420678:W147R	ENSP00000318262:W155R	W	+	1	0	TBC1D15	70564953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	2.185000	0.69588	0.482000	0.46254	TGG		0.393	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	
TPH2	121278	broad.mit.edu	37	12	72425402	72425402	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:72425402T>C	ENST00000333850.3	+	11	1541	c.1400T>C	c.(1399-1401)gTg>gCg	p.V467A		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	467					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.V467A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GAAAATGTGGTGCAGGACCTT	0.413																																					p.V467A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1400C	12						.						161.0	155.0	157.0					12																	72425402		2203	4300	6503	70711669	SO:0001583	missense	121278	exon11			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1400T>C	12.37:g.72425402T>C	ENSP00000329093:p.Val467Ala		70711669	NM_173353	A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253236	0.39797	.	.	ENSG00000139287	ENST00000333850	D	0.99557	-6.16	5.82	5.82	0.92795	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	L	0.42529	1.33	0.80722	D	1	B	0.14805	0.011	B	0.20577	0.03	D	0.99977	1.2272	10	0.13470	T	0.59	-21.0823	16.2365	0.82377	0.0:0.0:0.0:1.0	.	467	Q8IWU9	TPH2_HUMAN	A	467	ENSP00000329093:V467A	ENSP00000329093:V467A	V	+	2	0	TPH2	70711669	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.037000	0.88933	2.238000	0.73509	0.477000	0.44152	GTG		0.413	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
NAV3	89795	broad.mit.edu	37	12	78400806	78400806	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:78400806delA	ENST00000397909.2	+	8	1661	c.1488delA	c.(1486-1488)ccafs	p.P496fs	NAV3_ENST00000536525.2_Frame_Shift_Del_p.P496fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.P496fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.P496fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	496						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.K498fs*8(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGATGGCTCCAAAAAAGACCT	0.413										HNSCC(70;0.22)																											p.P496fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1488delA	12						.						76.0	75.0	75.0					12																	78400806		1886	4113	5999	76924937	SO:0001589	frameshift_variant	89795	exon8			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1488delA	12.37:g.78400806delA	ENSP00000381007:p.Pro496fs		76924937	NM_014903	Q8NFW7|Q9Y2E7	Frame_Shift_Del	DEL	ENST00000397909.2	37																																																																																					0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
C12orf74	338809	broad.mit.edu	37	12	93100551	93100551	+	Silent	SNP	G	G	A	rs545048958		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:93100551G>A	ENST00000397833.3	+	2	595	c.144G>A	c.(142-144)tcG>tcA	p.S48S	C12orf74_ENST00000544406.2_Silent_p.S48S	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	48								p.S48S(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TCTCCACCTCGCCCACTTTGA	0.637																																					p.S48S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G144A	12						.						42.0	44.0	44.0					12																	93100551		1900	4117	6017	91624682	SO:0001819	synonymous_variant	338809	exon2			BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.144G>A	12.37:g.93100551G>A			91624682	NM_001037671	F5H4P0	Silent	SNP	ENST00000397833.3	37	CCDS41819.1																																																																																				0.637	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671	
CRADD	8738	broad.mit.edu	37	12	94072723	94072723	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:94072723T>C	ENST00000542893.2	+	2	491	c.173T>C	c.(172-174)cTg>cCg	p.L58P	CRADD_ENST00000552983.1_Missense_Mutation_p.L58P|CRADD_ENST00000332896.3_Missense_Mutation_p.L58P|CRADD_ENST00000541813.1_Missense_Mutation_p.L58P|CRADD_ENST00000552033.1_Missense_Mutation_p.L58P|CRADD_ENST00000548483.1_Missense_Mutation_p.L58P			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	58	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)	p.L58P(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ATGCTCCTGCTGGATATCCTA	0.478																																					p.L58P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T173C	12						.						71.0	68.0	69.0					12																	94072723		2203	4300	6503	92596854	SO:0001583	missense	8738	exon2			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.173T>C	12.37:g.94072723T>C	ENSP00000439068:p.Leu58Pro		92596854	NM_003805	B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.832263	0.71258	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78301	-0.2257	10	0.87932	D	0	-16.3469	15.0405	0.71788	0.0:0.0:0.0:1.0	.	58;58	F5H7C2;P78560	.;CRADD_HUMAN	P	58	ENSP00000449570:L58P;ENSP00000327647:L58P;ENSP00000449664:L58P;ENSP00000448685:L58P;ENSP00000439068:L58P;ENSP00000442624:L58P	ENSP00000327647:L58P	L	+	2	0	CRADD	92596854	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	7.150000	0.77403	1.947000	0.56498	0.533000	0.62120	CTG		0.478	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805	
USP44	84101	broad.mit.edu	37	12	95926798	95926798	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:95926798A>G	ENST00000258499.3	-	2	1523	c.1235T>C	c.(1234-1236)cTc>cCc	p.L412P	USP44_ENST00000552440.1_Missense_Mutation_p.L412P|USP44_ENST00000537435.2_Missense_Mutation_p.L412P|USP44_ENST00000393091.2_Missense_Mutation_p.L412P	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	412	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)	p.L412P(1)		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						GGCAGGAATGAGTCTCCACAC	0.423																																					p.L412P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1235C	12						.						139.0	125.0	129.0					12																	95926798		2203	4300	6503	94450929	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.1235T>C	12.37:g.95926798A>G	ENSP00000258499:p.Leu412Pro		94450929	NM_001042403	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437938	0.62955	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.1	5.1	0.69264	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.129747	0.53938	D	0.000055	T	0.61590	0.2359	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67757	-0.5588	10	0.46703	T	0.11	.	15.189	0.73028	1.0:0.0:0.0:0.0	.	412	Q9H0E7	UBP44_HUMAN	P	412	ENSP00000258499:L412P;ENSP00000376806:L412P;ENSP00000448670:L412P;ENSP00000442629:L412P	ENSP00000258499:L412P	L	-	2	0	USP44	94450929	1.000000	0.71417	0.206000	0.23566	0.969000	0.65631	9.264000	0.95635	2.049000	0.60858	0.454000	0.30748	CTC		0.423	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
SLC25A3	5250	broad.mit.edu	37	12	98989619	98989619	+	Intron	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:98989619G>A	ENST00000228318.3	+	3	402				SLC25A3_ENST00000188376.5_Missense_Mutation_p.R91H|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R91H|SLC25A3_ENST00000547534.1_Missense_Mutation_p.R91H|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R91H|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R91H|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R91H	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3						generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.R91H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GTGAAATGCCGTATGCAGGTT	0.408																																					p.R91H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G272A	12						.						156.0	144.0	148.0					12																	98989619		2203	4300	6503	97513750	SO:0001627	intron_variant	5250	exon3				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.282+284G>A	12.37:g.98989619G>A			97513750	NM_002635	B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049968	0.93740	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000552981;ENST00000547534;ENST00000549338;ENST00000548847	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.87	4.87	0.63330	.	.	.	.	.	D	0.95059	0.8400	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.977	D	0.96817	0.9601	9	0.87932	D	0	.	18.0095	0.89219	0.0:0.0:1.0:0.0	rs11544654	91;91;91	F8VVM2;B2RE88;Q00325-2	.;.;.	H	91	ENSP00000383898:R91H;ENSP00000188376:R91H;ENSP00000448708:R91H;ENSP00000449793:R91H;ENSP00000447740:R91H;ENSP00000449166:R91H	ENSP00000188376:R91H	R	+	2	0	SLC25A3	97513750	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.776000	0.99001	2.250000	0.74265	0.655000	0.94253	CGT		0.408	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888	
UHRF1BP1L	23074	broad.mit.edu	37	12	100451858	100451858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:100451858delC	ENST00000279907.7	-	14	3409	c.3197delG	c.(3196-3198)agtfs	p.S1066fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.S716fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1066								p.S1066fs*17(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCTTCTTTACTGATATCCAG	0.348																																					p.S1066fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3197delG	12						.						73.0	79.0	77.0					12																	100451858		2199	4297	6496	98975989	SO:0001589	frameshift_variant	23074	exon14				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3197delG	12.37:g.100451858delC	ENSP00000279907:p.Ser1066fs		98975989	NM_015054	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Del	DEL	ENST00000279907.7	37	CCDS31882.1																																																																																				0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
GAS2L3	283431	broad.mit.edu	37	12	101018582	101018582	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:101018582A>G	ENST00000539410.1	+	9	2385	c.1999A>G	c.(1999-2001)Agt>Ggt	p.S667G	GAS2L3_ENST00000547754.1_Missense_Mutation_p.S667G|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S667G|GAS2L3_ENST00000537247.1_Missense_Mutation_p.S563G			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	667					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.S667G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGATGCAGATAGTGGAGATAA	0.403																																					p.S667G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1999G	12						.						46.0	52.0	50.0					12																	101018582		2203	4300	6503	99542713	SO:0001583	missense	283431	exon10			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1999A>G	12.37:g.101018582A>G	ENSP00000439672:p.Ser667Gly		99542713	NM_174942	B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446460	0.25987	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26067	1.77;1.77;1.76;1.77	5.48	3.09	0.35607	.	0.971401	0.08549	N	0.929253	T	0.26702	0.0653	M	0.61703	1.905	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28202	-1.0051	10	0.62326	D	0.03	-6.3269	5.8546	0.18712	0.5975:0.1304:0.2721:0.0	.	667	Q86XJ1	GA2L3_HUMAN	G	667;667;563;667	ENSP00000266754:S667G;ENSP00000448955:S667G;ENSP00000442406:S563G;ENSP00000439672:S667G	ENSP00000266754:S667G	S	+	1	0	GAS2L3	99542713	0.000000	0.05858	0.006000	0.13384	0.014000	0.08584	-0.007000	0.12810	0.912000	0.36772	0.533000	0.62120	AGT		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942	
PUS1	80324	broad.mit.edu	37	12	132416817	132416817	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr12:132416817T>C	ENST00000376649.3	+	3	901	c.401T>C	c.(400-402)aTg>aCg	p.M134T	PUS1_ENST00000542167.2_Missense_Mutation_p.M81T|PUS1_ENST00000440818.2_Missense_Mutation_p.M106T|PUS1_ENST00000443358.2_Missense_Mutation_p.M106T|PUS1_ENST00000535067.1_Missense_Mutation_p.M106T|RP11-417L19.4_ENST00000539078.1_lincRNA	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	134					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)	p.M134T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GGTGAGGACATGAGGAAAATG	0.562																																					p.M134T	Esophageal Squamous(102;671 2009 17384 45666)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T401C	12						.						83.0	68.0	73.0					12																	132416817		2203	4300	6503	130982770	SO:0001583	missense	80324	exon3			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.401T>C	12.37:g.132416817T>C	ENSP00000365837:p.Met134Thr		130982770	NM_025215	A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339280	0.41398	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167;ENST00000538037;ENST00000456665;ENST00000544213;ENST00000535067;ENST00000537484	T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.26	5.26	0.73747	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.41573	1.285	0.80722	D	1	B;B	0.29766	0.232;0.256	B;B	0.38296	0.07;0.27	T	0.55302	-0.8162	10	0.41790	T	0.15	-17.71	15.16	0.72775	0.0:0.0:0.0:1.0	.	81;134	F5H1S9;Q9Y606	.;TRUA_HUMAN	T	106;134;106;106;81;106;106;134;106;106	ENSP00000392451:M106T;ENSP00000365837:M134T;ENSP00000324726:M106T;ENSP00000400032:M106T;ENSP00000438948:M81T;ENSP00000440326:M106T;ENSP00000409705:M106T;ENSP00000445819:M134T;ENSP00000443969:M106T;ENSP00000440179:M106T	ENSP00000324726:M106T	M	+	2	0	PUS1	130982770	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.040000	0.89188	1.991000	0.58162	0.379000	0.24179	ATG		0.562	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215	
ERCC5	2073	broad.mit.edu	37	13	103518240	103518240	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:103518240T>C	ENST00000355739.4	+	9	3601	c.2178T>C	c.(2176-2178)caT>caC	p.H726H	ERCC5_ENST00000375954.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_Nonstop_Mutation_p.*1152R	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	726					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.H726H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTCGCTCCATGAATGGCAAG	0.488			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.H726H		yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2178C	13						.						76.0	72.0	74.0					13																	103518240		2203	4300	6503	102316241	SO:0001819	synonymous_variant	2073	exon9	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2178T>C	13.37:g.103518240T>C			102316241	NM_000123	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	CCDS32004.1																																																																																				0.488	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
RAB20	55647	broad.mit.edu	37	13	111176075	111176075	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:111176075T>C	ENST00000267328.3	-	2	855	c.642A>G	c.(640-642)tcA>tcG	p.S214S		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	214					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)	p.S214S(1)		endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACTGTGTGTGACGGCCTCT	0.542																																					p.S214S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A642G	13						.						156.0	124.0	135.0					13																	111176075		2203	4300	6503	109974076	SO:0001819	synonymous_variant	55647	exon2			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.642A>G	13.37:g.111176075T>C			109974076	NM_017817	Q5T9X5|Q9NX49	Silent	SNP	ENST00000267328.3	37	CCDS9512.1																																																																																				0.542	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817	
SGCG	6445	broad.mit.edu	37	13	23894858	23894858	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:23894858C>T	ENST00000218867.3	+	7	785	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	SGCG_ENST00000545013.1_Missense_Mutation_p.L221F|SGCG_ENST00000537476.1_Missense_Mutation_p.L221F	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	221					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.L221F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AATTGAGGCGCTTTCTCAAAT	0.443																																					p.L221F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C661T	13						.						95.0	95.0	95.0					13																	23894858		2203	4300	6503	22792858	SO:0001583	missense	6445	exon7			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.661C>T	13.37:g.23894858C>T	ENSP00000218867:p.Leu221Phe		22792858	NM_000231	Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595560	0.46318	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94650	-3.48;-3.48;-3.48	5.62	4.78	0.61160	.	0.227250	0.46758	N	0.000271	D	0.96377	0.8818	M	0.73962	2.25	0.50313	D	0.999869	D	0.71674	0.998	D	0.68483	0.958	D	0.95186	0.8304	10	0.23891	T	0.37	-12.6521	14.3696	0.66830	0.0:0.9293:0.0:0.0707	.	221	Q13326	SGCG_HUMAN	F	221	ENSP00000218867:L221F;ENSP00000444100:L221F;ENSP00000442232:L221F	ENSP00000218867:L221F	L	+	1	0	SGCG	22792858	0.934000	0.31675	0.996000	0.52242	0.004000	0.04260	1.942000	0.40243	1.392000	0.46585	0.655000	0.94253	CTT		0.443	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
FLT1	2321	broad.mit.edu	37	13	29001431	29001431	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:29001431G>A	ENST00000282397.4	-	10	1552	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	FLT1_ENST00000541932.1_Missense_Mutation_p.A434V|FLT1_ENST00000539099.1_Missense_Mutation_p.A434V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	434	Ig-like C2-type 5.				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.A434V(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)	CGATGACACGGCCTTTTCGTA	0.498																																					p.A434V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1301T	13						.						91.0	80.0	84.0					13																	29001431		2203	4300	6503	27899431	SO:0001583	missense	2321	exon10			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.1301C>T	13.37:g.29001431G>A	ENSP00000282397:p.Ala434Val		27899431	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995041	0.54041	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.75050	-0.9;-0.31;-0.26	5.9	5.06	0.68205	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.415318	0.26646	N	0.023235	T	0.67850	0.2937	L	0.43152	1.355	0.09310	N	1	P;P;P;B	0.42785	0.79;0.468;0.468;0.205	B;B;B;B	0.42138	0.377;0.377;0.377;0.2	T	0.59941	-0.7359	10	0.30854	T	0.27	.	12.0654	0.53586	0.1378:0.0:0.8622:0.0	.	434;434;434;434	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	V	434	ENSP00000282397:A434V;ENSP00000437631:A434V;ENSP00000442630:A434V	ENSP00000282397:A434V	A	-	2	0	FLT1	27899431	0.996000	0.38824	0.316000	0.25252	0.870000	0.49936	4.358000	0.59442	1.504000	0.48704	0.650000	0.86243	GCC		0.498	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
SLC7A1	6541	broad.mit.edu	37	13	30110280	30110280	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:30110280G>A	ENST00000380752.5	-	3	432	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	16					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.R16W(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCACCTTCCGCCGCAGCATC	0.567																																					p.R16W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C46T	13						.						65.0	71.0	69.0					13																	30110280		2203	4300	6503	29008280	SO:0001583	missense	6541	exon3			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.46C>T	13.37:g.30110280G>A	ENSP00000370128:p.Arg16Trp		29008280	NM_003045	Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140500	0.77775	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.90324	-2.34;-2.65	4.82	3.95	0.45737	.	0.137320	0.50627	D	0.000118	D	0.94660	0.8278	M	0.76938	2.355	0.43403	D	0.995531	D	0.89917	1.0	D	0.78314	0.991	D	0.94997	0.8139	10	0.87932	D	0	.	13.3966	0.60856	0.0:0.0:0.8416:0.1584	.	16	P30825	CTR1_HUMAN	W	16	ENSP00000370128:R16W;ENSP00000390092:R16W	ENSP00000370128:R16W	R	-	1	2	SLC7A1	29008280	0.999000	0.42202	1.000000	0.80357	0.962000	0.63368	3.045000	0.49838	1.213000	0.43380	0.655000	0.94253	CGG		0.567	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
KATNAL1	84056	broad.mit.edu	37	13	30784499	30784499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:30784499C>T	ENST00000380615.3	-	10	1395	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	KATNAL1_ENST00000380617.3_Missense_Mutation_p.E410K	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1									p.E410K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TCAATCTTCTCGGCTATATCT	0.398																																					p.E410K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1228A	13						.						151.0	142.0	145.0					13																	30784499		2203	4300	6503	29682499	SO:0001583	missense	84056	exon10			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1228G>A	13.37:g.30784499C>T	ENSP00000369989:p.Glu410Lys		29682499	NM_032116		Missense_Mutation	SNP	ENST00000380615.3	37	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778081	0.49786	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.97941	-4.62;-4.62	5.77	5.77	0.91146	.	0.153946	0.64402	D	0.000020	D	0.92231	0.7536	N	0.10945	0.07	0.42102	D	0.991344	B	0.13145	0.007	B	0.08055	0.003	D	0.88625	0.3165	10	0.06236	T	0.91	-13.1677	15.4697	0.75432	0.0:0.8621:0.1379:0.0	.	410	Q9BW62	KATL1_HUMAN	K	410	ENSP00000369989:E410K;ENSP00000369991:E410K	ENSP00000369989:E410K	E	-	1	0	KATNAL1	29682499	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.804000	0.62554	2.723000	0.93209	0.655000	0.94253	GAG		0.398	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116	
CSNK1A1L	122011	broad.mit.edu	37	13	37678718	37678718	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:37678718C>T	ENST00000379800.3	-	1	1085	c.676G>A	c.(676-678)Gct>Act	p.A226T		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A226T(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTTGTCATAGCCCTTAGTCCT	0.418																																					p.A226T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G676A	13						.						98.0	98.0	98.0					13																	37678718		2203	4300	6503	36576718	SO:0001583	missense	122011	exon1			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.676G>A	13.37:g.37678718C>T	ENSP00000369126:p.Ala226Thr		36576718	NM_145203	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316429	0.40996	.	.	ENSG00000180138	ENST00000379800	T	0.20881	2.04	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050907	0.85682	D	0.000000	T	0.23492	0.0568	M	0.85630	2.765	0.42617	D	0.993338	P	0.35908	0.527	B	0.33690	0.168	T	0.09640	-1.0665	10	0.72032	D	0.01	.	5.4869	0.16755	0.0:1.0:0.0:0.0	.	226	Q8N752	KC1AL_HUMAN	T	226	ENSP00000369126:A226T	ENSP00000369126:A226T	A	-	1	0	CSNK1A1L	36576718	1.000000	0.71417	0.967000	0.41034	0.889000	0.51656	5.160000	0.64929	0.871000	0.35750	0.561000	0.74099	GCT		0.418	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
POSTN	10631	broad.mit.edu	37	13	38148762	38148762	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:38148762T>A	ENST00000379747.4	-	17	2153	c.2036A>T	c.(2035-2037)gAa>gTa	p.E679V	POSTN_ENST00000379749.4_Missense_Mutation_p.E679V|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379743.4_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	679					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.E679V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATTTTTGGTTCCACAACTTT	0.279																																					p.E679V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2036T	13						.						62.0	58.0	60.0					13																	38148762		2200	4285	6485	37046762	SO:0001583	missense	10631	exon17			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2036A>T	13.37:g.38148762T>A	ENSP00000369071:p.Glu679Val		37046762	NM_006475	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153451	0.57259	.	.	ENSG00000133110	ENST00000379749;ENST00000379747	D;D	0.91996	-2.93;-2.95	5.38	4.2	0.49525	.	0.074020	0.53938	D	0.000053	D	0.87245	0.6129	L	0.47716	1.5	0.80722	D	1	B	0.26002	0.139	B	0.22386	0.039	T	0.81752	-0.0789	10	0.32370	T	0.25	-27.4058	9.0879	0.36592	0.0:0.0851:0.0:0.9149	.	679	Q15063	POSTN_HUMAN	V	679	ENSP00000369073:E679V;ENSP00000369071:E679V	ENSP00000369071:E679V	E	-	2	0	POSTN	37046762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.813000	0.48002	0.973000	0.38340	0.528000	0.53228	GAA		0.279	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
TRPC4	7223	broad.mit.edu	37	13	38211683	38211683	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:38211683G>T	ENST00000379705.3	-	11	3148	c.2291C>A	c.(2290-2292)tCt>tAt	p.S764Y	TRPC4_ENST00000358477.2_Missense_Mutation_p.S764Y|TRPC4_ENST00000379679.1_Missense_Mutation_p.S591Y|TRPC4_ENST00000379681.3_Missense_Mutation_p.S769Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S699Y|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.S591Y|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	764	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S764Y(1)|p.S769Y(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCATTCGCAGATTGTATTGT	0.383																																					p.S699Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2096A	13						.						50.0	52.0	51.0					13																	38211683		2203	4299	6502	37109683	SO:0001583	missense	7223	exon10			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2291C>A	13.37:g.38211683G>T	ENSP00000369027:p.Ser764Tyr		37109683	NM_001135956	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078938	0.36662	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000358477;ENST00000379673	T;T;T;T;T;T	0.70631	-0.22;-0.22;-0.01;-0.01;-0.2;-0.5	5.79	4.93	0.64822	.	1.579820	0.03321	N	0.191949	T	0.54983	0.1892	N	0.11064	0.09	0.80722	D	1	B;P;B;B;B	0.42620	0.32;0.785;0.001;0.32;0.001	B;B;B;B;B	0.38056	0.264;0.264;0.004;0.264;0.001	T	0.53606	-0.8415	10	0.02654	T	1	-6.9386	16.6861	0.85306	0.0:0.1298:0.8702:0.0	.	699;769;591;764;764	Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	Y	764;769;591;591;764;699	ENSP00000369027:S764Y;ENSP00000369003:S769Y;ENSP00000342580:S591Y;ENSP00000369001:S591Y;ENSP00000351264:S764Y;ENSP00000368995:S699Y	ENSP00000342580:S591Y	S	-	2	0	TRPC4	37109683	0.857000	0.29778	0.004000	0.12327	0.960000	0.62799	4.855000	0.62925	1.403000	0.46800	0.563000	0.77884	TCT		0.383	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FAM124A	220108	broad.mit.edu	37	13	51825735	51825735	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:51825735C>T	ENST00000322475.8	+	3	367	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	FAM124A_ENST00000280057.6_Silent_p.L114L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	78								p.L114L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CGACCTCCCGCTGTTCCGGGT	0.682																																					p.L114L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C340T	13						.						16.0	16.0	16.0					13																	51825735		2200	4292	6492	50723736	SO:0001819	synonymous_variant	220108	exon4			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.232C>T	13.37:g.51825735C>T			50723736	NM_145019	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	CCDS55900.1																																																																																				0.682	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	
PCDH9	5101	broad.mit.edu	37	13	67802319	67802319	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:67802319A>C	ENST00000377865.2	-	1	388	c.254T>G	c.(253-255)aTt>aGt	p.I85S	PCDH9_ENST00000328454.5_Missense_Mutation_p.I85S|PCDH9_ENST00000456367.1_Missense_Mutation_p.I85S|PCDH9_ENST00000544246.1_Missense_Mutation_p.I85S|PCDH9_ENST00000377861.3_Missense_Mutation_p.I85S			Q9HC56	PCDH9_HUMAN	protocadherin 9	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I85S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTTGTGAAAATTTCCCCAGT	0.493																																					p.I85S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T254G	13						.						53.0	50.0	51.0					13																	67802319		2203	4300	6503	66700320	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.254T>G	13.37:g.67802319A>C	ENSP00000367096:p.Ile85Ser		66700320	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858120	0.51376	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.97	5.97	0.96955	Cadherin, N-terminal (1);Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.999;0.999;1.0	T	0.62048	-0.6936	10	0.87932	D	0	.	16.4461	0.83932	1.0:0.0:0.0:0.0	.	85;85;85;85	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	85	ENSP00000442186:I85S;ENSP00000367096:I85S;ENSP00000401699:I85S;ENSP00000332060:I85S;ENSP00000367092:I85S	ENSP00000332060:I85S	I	-	2	0	PCDH9	66700320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.339000	0.96797	2.285000	0.76669	0.528000	0.53228	ATT		0.493	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
TBC1D4	9882	broad.mit.edu	37	13	75936201	75936201	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:75936201C>G	ENST00000377636.3	-	2	1387	c.1041G>C	c.(1039-1041)caG>caC	p.Q347H	TBC1D4_ENST00000431480.2_Missense_Mutation_p.Q347H|TBC1D4_ENST00000377625.2_Missense_Mutation_p.Q347H|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	347	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGTCCGAGGGCTGGACGTGAC	0.627																																					p.Q347H												.	.	0			c.G1041C	13						.						83.0	90.0	88.0					13																	75936201		2150	4255	6405	74834202	SO:0001583	missense	9882	exon2			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1041G>C	13.37:g.75936201C>G	ENSP00000366863:p.Gln347His		74834202	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486817	0.63962	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19394	2.15;2.15;2.15	4.94	4.09	0.47781	Phosphotyrosine interaction domain (2);	0.000000	0.56097	D	0.000037	T	0.41259	0.1151	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.991;0.999;0.999	T	0.21348	-1.0248	10	0.59425	D	0.04	-21.7206	9.4146	0.38514	0.0:0.8371:0.0:0.1629	.	347;347;347	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	H	347	ENSP00000366863:Q347H;ENSP00000395986:Q347H;ENSP00000366852:Q347H	ENSP00000366852:Q347H	Q	-	3	2	TBC1D4	74834202	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	3.743000	0.55104	1.081000	0.41110	0.563000	0.77884	CAG		0.627	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
MYCBP2	23077	broad.mit.edu	37	13	77742631	77742631	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:77742631T>C	ENST00000544440.2	-	40	5949	c.5932A>G	c.(5932-5934)Acc>Gcc	p.T1978A	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.T2016A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T1978A					MYC binding protein 2, E3 ubiquitin protein ligase									p.T1978A(2)|p.T2016A(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGACTGGAGGTTGTACAAGCA	0.488																																					p.T2016A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A6046G	13						.						238.0	206.0	217.0					13																	77742631		2203	4300	6503	76640632	SO:0001583	missense	23077	exon40			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5932A>G	13.37:g.77742631T>C	ENSP00000444596:p.Thr1978Ala		76640632	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	T	18.49	3.634705	0.67130	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34072	1.39;1.38;1.39	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	L	0.60455	1.87	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.58109	-0.7694	10	0.72032	D	0.01	.	15.7474	0.77955	0.0:0.0:0.0:1.0	.	1978	O75592	MYCB2_HUMAN	A	1978;2016;1978	ENSP00000349892:T1978A;ENSP00000384288:T2016A;ENSP00000444596:T1978A	ENSP00000349892:T1978A	T	-	1	0	MYCBP2	76640632	1.000000	0.71417	0.995000	0.50966	0.634000	0.38068	8.040000	0.89188	2.128000	0.65567	0.528000	0.53228	ACC		0.488	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
UGGT2	55757	broad.mit.edu	37	13	96508430	96508430	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:96508430A>G	ENST00000376747.3	-	34	4060	c.3990T>C	c.(3988-3990)atT>atC	p.I1330I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1330	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.I1330I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCAACAAAAATGATTTTGT	0.343																																					p.I1330I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3990C	13						.						86.0	89.0	88.0					13																	96508430		2203	4300	6503	95306431	SO:0001819	synonymous_variant	55757	exon34			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3990T>C	13.37:g.96508430A>G			95306431	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	CCDS9480.1																																																																																				0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
CLYBL	171425	broad.mit.edu	37	13	100511212	100511212	+	Missense_Mutation	SNP	C	C	T	rs200083846		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:100511212C>T	ENST00000376360.1	+	3	374	c.347C>T	c.(346-348)gCg>gTg	p.A116V	CLYBL_ENST00000444838.2_Missense_Mutation_p.A116V|CLYBL_ENST00000339105.4_Missense_Mutation_p.A116V|CLYBL_ENST00000376354.1_Missense_Mutation_p.A116V|CLYBL_ENST00000376355.3_Missense_Mutation_p.A116V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	116						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.A116V(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTGGTCTGGCGGAAGAAGAC	0.478																																					p.A116V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C347T	13						.						82.0	77.0	79.0					13																	100511212		2203	4300	6503	99309213	SO:0001583	missense	171425	exon3			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.347C>T	13.37:g.100511212C>T	ENSP00000365538:p.Ala116Val		99309213	NM_206808	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485744	0.63962	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000416504;ENST00000443887	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.91	5.91	0.95273	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	M	0.75447	2.3	0.80722	D	1	P;P;P	0.52842	0.956;0.945;0.786	P;B;B	0.48400	0.576;0.44;0.395	T	0.28202	-1.0051	10	0.30078	T	0.28	-0.1707	20.2985	0.98592	0.0:1.0:0.0:0.0	.	116;116;116	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	V	116;116;116;116;116;33;33	ENSP00000365533:A116V;ENSP00000365538:A116V;ENSP00000404768:A116V;ENSP00000365532:A116V;ENSP00000342991:A116V;ENSP00000403408:A33V;ENSP00000401586:A33V	ENSP00000342991:A116V	A	+	2	0	CLYBL	99309213	1.000000	0.71417	0.965000	0.40720	0.746000	0.42486	5.788000	0.69020	2.793000	0.96121	0.655000	0.94253	GCG		0.478	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		
TUBGCP3	10426	broad.mit.edu	37	13	113213652	113213652	+	Missense_Mutation	SNP	C	C	T	rs372753699		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:113213652C>T	ENST00000261965.3	-	4	500	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R105H	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	105					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R105H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					TGGCTGCCTGCGTGGGTCCTC	0.453																																					p.R105H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314A	13						.						71.0	67.0	69.0					13																	113213652		2203	4300	6503	112261653	SO:0001583	missense	10426	exon4			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.314G>A	13.37:g.113213652C>T	ENSP00000261965:p.Arg105His		112261653	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286368	0.95517	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.24908	1.83;1.83	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.73598	2.24	0.80722	D	1	P;D;D;D	0.89917	0.573;1.0;0.999;0.999	B;D;P;P	0.72338	0.051;0.977;0.862;0.8	T	0.51356	-0.8716	10	0.46703	T	0.11	-25.259	19.4137	0.94687	0.0:1.0:0.0:0.0	.	105;105;105;105	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	H	105	ENSP00000261965:R105H;ENSP00000364821:R105H	ENSP00000261965:R105H	R	-	2	0	TUBGCP3	112261653	1.000000	0.71417	0.983000	0.44433	0.862000	0.49288	6.589000	0.74080	2.581000	0.87130	0.638000	0.83543	CGC		0.453	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	-	G	G	Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrUnknown:0delG								None (None upstream) : None (None downstream)																								0.0																																					p.P293fs												.	.	0			c.878delC	13						.																																			113599170	SO:0001628	intergenic_variant	348013	exon9																															Unknown.37:g.0delG			113599170	NM_182614		Frame_Shift_Del	DEL		37																																																																																				0	0								
RNF17	56163	broad.mit.edu	37	13	25362211	25362211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:25362211delA	ENST00000255324.5	+	7	749	c.697delA	c.(697-699)aaafs	p.K234fs	RNF17_ENST00000381921.1_Frame_Shift_Del_p.K234fs|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Frame_Shift_Del_p.K234fs	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	234					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.N235fs*3(2)		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)		CATTGAAGAGAAAAAAAATAA	0.303																																					p.K233fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.697delA	13						.						53.0	56.0	55.0					13																	25362211		2203	4290	6493	24260211	SO:0001589	frameshift_variant	56163	exon7			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.697delA	13.37:g.25362211delA	ENSP00000255324:p.Lys234fs		24260211	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Frame_Shift_Del	DEL	ENST00000255324.5	37	CCDS9308.2																																																																																				0.303	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
FARP1	10160	broad.mit.edu	37	13	98865538	98865538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr13:98865538delG	ENST00000319562.6	+	2	307	c.42delG	c.(40-42)ctgfs	p.L14fs	FARP1_ENST00000376586.2_Frame_Shift_Del_p.L14fs|FARP1_ENST00000595437.1_Frame_Shift_Del_p.L14fs|FARP1_ENST00000376581.5_Frame_Shift_Del_p.L14fs	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	14					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A16fs*83(2)|p.A16fs*62(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GATCACGACTGGGGGCCCCGG	0.517																																					p.L14fs												.	.	3	Deletion - Frameshift(3)	large_intestine(3)	c.42delG	13						.						92.0	110.0	104.0					13																	98865538		2203	4300	6503	97663539	SO:0001589	frameshift_variant	10160	exon2			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.42delG	13.37:g.98865538delG	ENSP00000322926:p.Leu14fs		97663539	NM_005766	Q5JVI9|Q6IQ29	Frame_Shift_Del	DEL	ENST00000319562.6	37	CCDS9487.1																																																																																				0.517	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
DIO3	1735	broad.mit.edu	37	14	102028511	102028511	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:102028511C>T	ENST00000510508.4	+	1	824	c.678C>T	c.(676-678)gtC>gtT	p.V226V	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.V200V			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	226					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.V200V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				AGGACCGGGTCAGCGCAGCGA	0.647																																					p.V226V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C678T	14						.						65.0	75.0	71.0					14																	102028511		2129	4226	6355	101098264	SO:0001819	synonymous_variant	1735	exon1			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.678C>T	14.37:g.102028511C>T			101098264	NM_001362	G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	CCDS41992.2																																																																																				0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362	
MMP14	4323	broad.mit.edu	37	14	23312567	23312567	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:23312567A>G	ENST00000311852.6	+	5	1051	c.790A>G	c.(790-792)Atg>Gtg	p.M264V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	264					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.M264V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TTACCAGTGGATGGACACGGA	0.592																																					p.M264V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A790G	14						.						112.0	110.0	111.0					14																	23312567		2203	4300	6503	22382407	SO:0001583	missense	4323	exon5				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.790A>G	14.37:g.23312567A>G	ENSP00000308208:p.Met264Val		22382407	NM_004995	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032911	0.54790	.	.	ENSG00000157227	ENST00000311852	T	0.19806	2.12	5.54	5.54	0.83059	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.35487	1.065	0.54753	D	0.999981	B	0.28900	0.227	B	0.34301	0.179	T	0.06356	-1.0831	10	0.23302	T	0.38	.	14.6441	0.68748	1.0:0.0:0.0:0.0	.	264	P50281	MMP14_HUMAN	V	264	ENSP00000308208:M264V	ENSP00000308208:M264V	M	+	1	0	MMP14	22382407	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.142000	0.71750	2.107000	0.64212	0.460000	0.39030	ATG		0.592	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
PSMB11	122706	broad.mit.edu	37	14	23512051	23512051	+	Missense_Mutation	SNP	G	G	A	rs372718722		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:23512051G>A	ENST00000408907.2	+	1	676	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.R206H(1)		endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GCCCTGGCTCGCTGCGCCGTG	0.617																																					p.R206H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G617A	14						.	G	HIS/ARG	0,4250		0,0,2125	40.0	42.0	41.0		617	5.0	0.8	14		41	1,8483		0,1,4241	no	missense	PSMB11	NM_001099780.1	29	0,1,6366	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	206/301	23512051	1,12733	2125	4242	6367	22581891	SO:0001583	missense	122706	exon1				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.617G>A	14.37:g.23512051G>A	ENSP00000386212:p.Arg206His		22581891	NM_001099780		Missense_Mutation	SNP	ENST00000408907.2	37	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587813	0.66105	0.0	1.18E-4	ENSG00000222028	ENST00000408907	T	0.23754	1.89	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.88241	2.94	0.47584	D	0.999468	D	0.89917	1.0	D	0.67231	0.95	T	0.67345	-0.5694	10	0.87932	D	0	-10.6153	17.1368	0.86742	0.0:0.0:1.0:0.0	.	206	A5LHX3	PSB11_HUMAN	H	206	ENSP00000386212:R206H	ENSP00000386212:R206H	R	+	2	0	PSMB11	22581891	0.947000	0.32204	0.810000	0.32431	0.020000	0.10135	4.304000	0.59104	2.348000	0.79779	0.655000	0.94253	CGC		0.617	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780	
CDH24	64403	broad.mit.edu	37	14	23524314	23524314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:23524314delA	ENST00000267383.5	-	2	542	c.450delT	c.(448-450)tttfs	p.F150fs	CDH24_ENST00000487137.2_Frame_Shift_Del_p.F150fs|CDH24_ENST00000554034.1_Frame_Shift_Del_p.F150fs|CDH24_ENST00000397359.3_Frame_Shift_Del_p.F150fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	150	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.Y155fs*15(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCCCAAGGGGAAAAATGGGTG	0.592											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F150fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.450delT	14						.						96.0	101.0	99.0					14																	23524314		2203	4300	6503	22594154	SO:0001589	frameshift_variant	64403	exon3			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.450delT	14.37:g.23524314delA	ENSP00000267383:p.Phe150fs	764	22594154	NM_022478	D3DS44|Q86UP1|Q9NT84	Frame_Shift_Del	DEL	ENST00000267383.5	37	CCDS9585.1																																																																																				0.592	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	
ACIN1	22985	broad.mit.edu	37	14	23549510	23549510	+	Missense_Mutation	SNP	G	G	A	rs12589748	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:23549510G>A	ENST00000262710.1	-	6	1535	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.A403V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A363V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A345V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	403	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A403V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCTGGCAGCGCTACAAGTGA	0.478													G|||	2	0.000399361	0.0	0.0	5008	,	,		20927	0.002		0.0	False		,,,				2504	0.0				p.A403V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1208T	14						.						60.0	61.0	60.0					14																	23549510		2203	4300	6503	22619350	SO:0001583	missense	22985	exon6			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1208C>T	14.37:g.23549510G>A	ENSP00000262710:p.Ala403Val		22619350	NM_001164814	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679133	0.00751	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.16324	2.35;2.35;2.35	5.27	1.66	0.24008	.	0.826317	0.09885	N	0.743101	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.37686	-0.9695	10	0.30078	T	0.28	-0.0231	6.1426	0.20269	0.6874:0.0:0.3126:0.0	rs12589748	403;403;363	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	V	403;363;403	ENSP00000262710:A403V;ENSP00000405677:A363V;ENSP00000451328:A403V	ENSP00000262710:A403V	A	-	2	0	ACIN1	22619350	0.110000	0.22057	0.029000	0.17559	0.016000	0.09150	1.178000	0.31981	0.469000	0.27268	-0.295000	0.09555	GCG		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488																																					p.L376fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1127delT	14						.						112.0	119.0	116.0					14																	23745310		1948	4135	6083	22815150	SO:0001589	frameshift_variant	57594	exon2			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1127delT	14.37:g.23745310delA	ENSP00000350049:p.Leu376fs		22815150	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	ENST00000357460.5	37	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
PABPN1	8106	broad.mit.edu	37	14	23793479	23793479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:23793479delC	ENST00000216727.4	+	6	1043	c.862delC	c.(862-864)cccfs	p.P288fs	PABPN1_ENST00000556821.1_Frame_Shift_Del_p.P160fs|PABPN1_ENST00000557702.1_Frame_Shift_Del_p.P160fs|PABPN1_ENST00000397276.2_Frame_Shift_Del_p.P288fs|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Frame_Shift_Del_p.P315fs|BCL2L2-PABPN1_ENST00000553781.1_Frame_Shift_Del_p.P315fs	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	288	Interacts with PAPOLA. {ECO:0000250}.|Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R289fs*>18(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TAACAGCAGGCCCCGGGGTCG	0.617																																					p.P315fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.943delC	14						.						78.0	80.0	79.0					14																	23793479		2203	4300	6503	22863319	SO:0001589	frameshift_variant	8106	exon8			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.862delC	14.37:g.23793479delC	ENSP00000216727:p.Pro288fs		22863319	NM_001199864	D3DS49|O43484	Frame_Shift_Del	DEL	ENST00000216727.4	37	CCDS9592.1																																																																																				0.617	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643	
MYH7	4625	broad.mit.edu	37	14	23900138	23900138	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:23900138G>A	ENST00000355349.3	-	10	1029	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	289	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.I289I(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTAGACAGGATTTGGTAGA	0.483																																					p.I289I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	14						.						128.0	139.0	135.0					14																	23900138		2203	4300	6503	22969978	SO:0001819	synonymous_variant	4625	exon10			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.867C>T	14.37:g.23900138G>A			22969978	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.483	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
AP1G2	8906	broad.mit.edu	37	14	24035828	24035828	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:24035828A>G	ENST00000308724.5	-	2	1027	c.272T>C	c.(271-273)aTg>aCg	p.M91T	AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.M91T|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	91					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.M91T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CAATAGAAGCATGGCCCCCAG	0.542																																					p.M91T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T272C	14						.						193.0	181.0	185.0					14																	24035828		2203	4300	6503	23105668	SO:0001583	missense	8906	exon3			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.272T>C	14.37:g.24035828A>G	ENSP00000312442:p.Met91Thr		23105668	NM_003917	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.691911	0.68271	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.89	4.89	0.63831	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.79258	2.445	0.80722	D	1	D	0.54601	0.967	P	0.61132	0.884	T	0.37526	-0.9702	10	0.21540	T	0.41	-26.2246	12.5001	0.55950	1.0:0.0:0.0:0.0	.	91	O75843	AP1G2_HUMAN	T	91	ENSP00000312442:M91T;ENSP00000380309:M91T;ENSP00000452153:M91T;ENSP00000451504:M91T	ENSP00000312442:M91T	M	-	2	0	AP1G2	23105668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.342000	0.65970	2.063000	0.61619	0.459000	0.35465	ATG		0.542	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	
DCAF11	80344	broad.mit.edu	37	14	24588997	24588997	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:24588997T>C	ENST00000446197.3	+	11	1711	c.984T>C	c.(982-984)gaT>gaC	p.D328D	DCAF11_ENST00000396936.1_Silent_p.D228D|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000559115.1_Silent_p.D328D|DCAF11_ENST00000396941.4_Silent_p.D302D	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	328					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.D328D(1)									CTGGGGGAGATGATGCCATCT	0.542																																					p.D328D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T984C	14						.						104.0	90.0	95.0					14																	24588997		2203	4300	6503	23658837	SO:0001819	synonymous_variant	80344	exon11			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.984T>C	14.37:g.24588997T>C			23658837	NM_001163484	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Silent	SNP	ENST00000446197.3	37	CCDS9610.1																																																																																				0.542	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		
CLEC14A	161198	broad.mit.edu	37	14	38724531	38724531	+	Missense_Mutation	SNP	C	C	T	rs558964656		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:38724531C>T	ENST00000342213.2	-	1	1043	c.697G>A	c.(697-699)Gct>Act	p.A233T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	233						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A233T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCCAGCGAGCGCCGATTTCG	0.627																																					p.A233T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	14						.						107.0	116.0	113.0					14																	38724531		2203	4300	6503	37794282	SO:0001583	missense	161198	exon1				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.697G>A	14.37:g.38724531C>T	ENSP00000353013:p.Ala233Thr		37794282	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	2.391	-0.339819	0.05243	.	.	ENSG00000176435	ENST00000342213	T	0.74842	-0.88	4.02	0.88	0.19161	.	.	.	.	.	T	0.56659	0.2000	L	0.29908	0.895	0.09310	N	1	B	0.23490	0.086	B	0.10450	0.005	T	0.46205	-0.9208	9	0.49607	T	0.09	-1.0001	3.4389	0.07456	0.4246:0.3701:0.0:0.2053	.	233	Q86T13	CLC14_HUMAN	T	233	ENSP00000353013:A233T	ENSP00000353013:A233T	A	-	1	0	CLEC14A	37794282	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.204000	0.09425	0.164000	0.19529	0.591000	0.81541	GCT		0.627	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
FANCM	57697	broad.mit.edu	37	14	45658093	45658093	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:45658093T>G	ENST00000267430.5	+	20	4953	c.4868T>G	c.(4867-4869)gTt>gGt	p.V1623G	FANCM_ENST00000542564.2_Missense_Mutation_p.V1597G	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1623					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.V1623G(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAGAAGAAGTTTGTGTTGAT	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.V1623G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4868G	14						.						87.0	89.0	88.0					14																	45658093		2203	4298	6501	44727843	SO:0001583	missense	57697	exon20	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4868T>G	14.37:g.45658093T>G	ENSP00000267430:p.Val1623Gly		44727843	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.20|15.20	2.762502|2.762502	0.49574|0.49574	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.76709	.|-1.04;-1.04;-1.04	5.67|5.67	3.3|3.3	0.37823|0.37823	.|.	.|0.937864	.|0.09050	.|N	.|0.855929	T|T	0.72985|0.72985	0.3529|0.3529	L|L	0.59436|0.59436	1.845|1.845	0.44477|0.44477	D|D	0.997415|0.997415	.|P;P	.|0.39282	.|0.666;0.483	.|B;B	.|0.35859	.|0.212;0.163	T|T	0.66168|0.66168	-0.5991|-0.5991	5|10	.|0.72032	.|D	.|0.01	.|.	8.5556|8.5556	0.33478|0.33478	0.0:0.1682:0.0:0.8318|0.0:0.1682:0.0:0.8318	.|.	.|1597;1623	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	R|G	555|1623;1597;1139	.|ENSP00000267430:V1623G;ENSP00000442493:V1597G;ENSP00000452033:V1139G	.|ENSP00000267430:V1623G	S|V	+|+	3|2	2|0	FANCM|FANCM	44727843|44727843	0.436000|0.436000	0.25586|0.25586	0.922000|0.922000	0.36590|0.36590	0.995000|0.995000	0.86356|0.86356	1.133000|1.133000	0.31430|0.31430	0.505000|0.505000	0.28104|0.28104	0.528000|0.528000	0.53228|0.53228	AGT|GTT		0.313	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
NIN	51199	broad.mit.edu	37	14	51224368	51224368	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:51224368delA	ENST00000382041.3	-	18	3570	c.3380delT	c.(3379-3381)ttafs	p.L1127fs	NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Frame_Shift_Del_p.L1127fs|NIN_ENST00000245441.5_Frame_Shift_Del_p.L1127fs|NIN_ENST00000530997.2_Frame_Shift_Del_p.L1127fs|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Frame_Shift_Del_p.L1127fs	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1127					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.L1133fs*9(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)					GTTTTGCTGTAAAAACTGCTC	0.478			T	PDGFRB	MPD																																p.L1127fs			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3380delT	14						.						152.0	144.0	147.0					14																	51224368		2203	4300	6503	50294118	SO:0001589	frameshift_variant	51199	exon18			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.3380delT	14.37:g.51224368delA	ENSP00000371472:p.Leu1127fs		50294118	NM_182944	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Frame_Shift_Del	DEL	ENST00000382041.3	37	CCDS32079.1																																																																																				0.478	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
NIN	51199	broad.mit.edu	37	14	51237131	51237131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:51237131C>T	ENST00000382041.3	-	12	1599	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	NIN_ENST00000389868.3_Missense_Mutation_p.R470Q|NIN_ENST00000324330.9_Missense_Mutation_p.R470Q|NIN_ENST00000245441.5_Missense_Mutation_p.R470Q|NIN_ENST00000530997.2_Missense_Mutation_p.R470Q|NIN_ENST00000382043.4_Missense_Mutation_p.R470Q|NIN_ENST00000453196.1_Missense_Mutation_p.R470Q	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.R476Q(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)					AAGGCGGTCCCGGATATAGTT	0.483			T	PDGFRB	MPD																																p.R470Q			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1409A	14						.						170.0	151.0	157.0					14																	51237131		2203	4300	6503	50306881	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.1409G>A	14.37:g.51237131C>T	ENSP00000371472:p.Arg470Gln		50306881	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	.	.	.	.	.	.	.	.	.	.	c	35	5.537643	0.96460	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.999;0.997;0.994;0.99	T	0.17531	-1.0366	10	0.38643	T	0.18	-21.2915	18.7292	0.91728	0.0:1.0:0.0:0.0	.	476;470;470;470;470	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	Q	470;470;470;470;476;470;470;470	ENSP00000245441:R470Q;ENSP00000374518:R470Q;ENSP00000371474:R470Q;ENSP00000371472:R470Q;ENSP00000324210:R470Q;ENSP00000412391:R470Q	ENSP00000245441:R470Q	R	-	2	0	NIN	50306881	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.487000	0.81328	2.668000	0.90789	0.645000	0.84053	CGG		0.483	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
ATG14	22863	broad.mit.edu	37	14	55836477	55836477	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:55836477G>T	ENST00000247178.5	-	10	1374	c.1339C>A	c.(1339-1341)Cct>Act	p.P447T		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	447	BATS. {ECO:0000250}.				autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)		p.P447T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GACTGGGAAGGGATATCACAA	0.587																																					p.P447T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1339A	14						.						97.0	86.0	90.0					14																	55836477		2203	4300	6503	54906230	SO:0001583	missense	22863	exon10			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1339C>A	14.37:g.55836477G>T	ENSP00000247178:p.Pro447Thr		54906230	NM_014924	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389454	0.82902	.	.	ENSG00000126775	ENST00000247178	T	0.36157	1.27	5.12	5.12	0.69794	.	0.053500	0.85682	D	0.000000	T	0.56834	0.2012	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52260	-0.8599	10	0.40728	T	0.16	-16.1983	18.7624	0.91858	0.0:0.0:1.0:0.0	.	447	Q6ZNE5	BAKOR_HUMAN	T	447	ENSP00000247178:P447T	ENSP00000247178:P447T	P	-	1	0	ATG14	54906230	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.624000	0.98398	2.649000	0.89929	0.555000	0.69702	CCT		0.587	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924	
C14orf105	55195	broad.mit.edu	37	14	57947443	57947443	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:57947443A>G	ENST00000216445.3	-	5	661	c.525T>C	c.(523-525)caT>caC	p.H175H	C14orf105_ENST00000422976.2_Silent_p.H174H|C14orf105_ENST00000534126.1_Silent_p.H174H	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	175								p.H175H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTGCCTCTCCATGAAGACTTT	0.398																																					p.H175H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T525C	14						.						203.0	199.0	201.0					14																	57947443		2203	4300	6503	57017196	SO:0001819	synonymous_variant	55195	exon5			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.525T>C	14.37:g.57947443A>G			57017196	NM_018168	Q53G04	Silent	SNP	ENST00000216445.3	37	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.288637	0.01387	.	.	ENSG00000100557	ENST00000524996	.	.	.	5.83	-4.0	0.04057	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26430	-1.0103	4	.	.	.	0.0593	1.9731	0.03410	0.2819:0.3371:0.2666:0.1144	.	.	.	.	T	21	.	.	M	-	2	0	C14orf105	57017196	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.924000	0.03996	-0.737000	0.04824	-0.800000	0.03216	ATG		0.398	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168	
GPR135	64582	broad.mit.edu	37	14	59930766	59930766	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:59930766G>A	ENST00000395116.1	-	1	1294	c.1179C>T	c.(1177-1179)aaC>aaT	p.N393N		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	393						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N393N(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GCATCGAAATGTTGGGATTGC	0.642																																					p.N393N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1179T	14						.						53.0	45.0	48.0					14																	59930766		2202	4299	6501	59000519	SO:0001819	synonymous_variant	64582	exon1			AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1179C>T	14.37:g.59930766G>A			59000519	NM_022571	Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	CCDS9738.1																																																																																				0.642	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571	
SPTB	6710	broad.mit.edu	37	14	65249187	65249187	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:65249187C>T	ENST00000389721.5	-	19	4119	c.4087G>A	c.(4087-4089)Gag>Aag	p.E1363K	SPTB_ENST00000542895.1_Missense_Mutation_p.E1363K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1363K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1363K|SPTB_ENST00000389722.3_Missense_Mutation_p.E1363K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1363					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E1363K(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCTGCAGCTCGTCCCAGAGC	0.597																																					p.E1363K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4087A	14						.						105.0	108.0	107.0					14																	65249187		2203	4300	6503	64318940	SO:0001583	missense	6710	exon19				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4087G>A	14.37:g.65249187C>T	ENSP00000374371:p.Glu1363Lys		64318940	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724458	0.48728	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.51574	0.7;1.3;0.7;0.7;0.7;0.7	5.36	4.43	0.53597	.	0.244071	0.41001	N	0.000966	T	0.40979	0.1139	L	0.46670	1.46	0.46167	D	0.998905	B;B;B	0.18741	0.017;0.015;0.03	B;B;B	0.26094	0.026;0.066;0.048	T	0.28618	-1.0038	10	0.41790	T	0.15	.	9.2719	0.37677	0.0:0.8139:0.0:0.1861	.	147;1363;1367	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	K	1367;1363;147;28;1363;1363;1363;1363	ENSP00000374372:E1363K;ENSP00000451324:E28K;ENSP00000451752:E1363K;ENSP00000374371:E1363K;ENSP00000443882:E1363K;ENSP00000374370:E1363K	ENSP00000334218:E147K	E	-	1	0	SPTB	64318940	0.268000	0.24133	0.995000	0.50966	0.837000	0.47467	0.898000	0.28404	1.321000	0.45227	0.462000	0.41574	GAG		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
GPHN	10243	broad.mit.edu	37	14	67147861	67147861	+	Missense_Mutation	SNP	G	G	A	rs530173903		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:67147861G>A	ENST00000315266.5	+	2	1222	c.101G>A	c.(100-102)cGc>cAc	p.R34H	GPHN_ENST00000459628.1_Missense_Mutation_p.R34H|GPHN_ENST00000543237.1_Missense_Mutation_p.R34H|GPHN_ENST00000478722.1_Missense_Mutation_p.R34H|GPHN_ENST00000305960.9_Missense_Mutation_p.R34H	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	34	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.R34H(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GCAGAAGACCGCAGTGGGATA	0.308			T	MLL	AL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		15274	0.0		0.0	False		,,,				2504	0.0				p.R34H			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101A	14						.						85.0	89.0	88.0					14																	67147861		2203	4300	6503	66217614	SO:0001583	missense	10243	exon2			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.101G>A	14.37:g.67147861G>A	ENSP00000312771:p.Arg34His		66217614	NM_001024218	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643659	0.67244	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.11	5.11	0.69529	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.84723	0.5535	L	0.49455	1.56	0.54753	D	0.99998	P;D;P;D;D	0.89917	0.69;1.0;0.507;0.999;0.998	B;D;B;D;P	0.72338	0.182;0.977;0.052;0.951;0.752	D	0.86042	0.1520	10	0.66056	D	0.02	-3.3065	16.0118	0.80409	0.0:0.0:1.0:0.0	.	34;34;34;34;34	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	H	34	ENSP00000312771:R34H;ENSP00000417901:R34H;ENSP00000452220:R34H;ENSP00000438404:R34H;ENSP00000303019:R34H	ENSP00000303019:R34H	R	+	2	0	GPHN	66217614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.659000	0.91116	2.374000	0.81015	0.579000	0.79373	CGC		0.308	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
PTGR2	145482	broad.mit.edu	37	14	74346782	74346782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:74346782C>A	ENST00000555661.1	+	7	899	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.L182M|PTGR2_ENST00000555228.1_Missense_Mutation_p.L252M|PTGR2_ENST00000553813.1_Missense_Mutation_p.L118M|PTGR2_ENST00000267568.4_Missense_Mutation_p.L252M			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	252					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)	p.L252M(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	CCACATCATCCTGTGTGGTCA	0.413																																					p.L252M	Esophageal Squamous(98;1155 1417 16452 47043 47872)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C754A	14						.						123.0	113.0	116.0					14																	74346782		2203	4300	6503	73416535	SO:0001583	missense	145482	exon7			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.754C>A	14.37:g.74346782C>A	ENSP00000452280:p.Leu252Met		73416535	NM_001146154	Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201970	0.58234	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52	5.63	4.74	0.60224	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00507	-1.1699	10	0.52906	T	0.07	-8.2874	8.8846	0.35396	0.0:0.7255:0.0:0.2745	.	252	Q8N8N7	PTGR2_HUMAN	M	252;252;252;203;118	ENSP00000450975:L252M;ENSP00000452280:L252M;ENSP00000267568:L252M;ENSP00000451158:L203M;ENSP00000450824:L118M	ENSP00000267568:L252M	L	+	1	2	RP5-1021I20.4;PTGR2	73416535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.711000	0.47177	1.364000	0.46038	0.591000	0.81541	CTG		0.413	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1		
TTLL5	23093	broad.mit.edu	37	14	76243154	76243154	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:76243154T>G	ENST00000298832.9	+	23	2553	c.2348T>G	c.(2347-2349)gTg>gGg	p.V783G	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.V292G|TTLL5_ENST00000556893.1_Missense_Mutation_p.V334G|TTLL5_ENST00000557636.1_Missense_Mutation_p.V797G	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	783					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.V783G(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAAGATGGGGTGAATATGGAA	0.393																																					p.V783G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2348G	14						.						131.0	127.0	128.0					14																	76243154		2203	4300	6503	75312907	SO:0001583	missense	23093	exon23			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2348T>G	14.37:g.76243154T>G	ENSP00000298832:p.Val783Gly		75312907	NM_015072	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940032	0.52972	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.44482	3.2;3.3;1.32;0.92	5.32	5.32	0.75619	.	0.506167	0.21017	N	0.081582	T	0.62208	0.2409	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.87578	0.978;0.998;0.852	T	0.65166	-0.6234	10	0.87932	D	0	.	12.9565	0.58430	0.0:0.0:0.0:1.0	.	797;334;783	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	G	470;797;783;334;334;292	ENSP00000450713:V797G;ENSP00000298832:V783G;ENSP00000452524:V334G;ENSP00000451946:V292G	ENSP00000298832:V783G	V	+	2	0	TTLL5	75312907	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.256000	0.58810	2.152000	0.67230	0.533000	0.62120	GTG		0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	
VIPAS39	63894	broad.mit.edu	37	14	77917593	77917593	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:77917593A>G	ENST00000553888.1	-	4	790	c.280T>C	c.(280-282)Ttc>Ctc	p.F94L	VIPAS39_ENST00000557658.1_Missense_Mutation_p.F94L|VIPAS39_ENST00000327028.4_Missense_Mutation_p.F94L|VIPAS39_ENST00000556412.1_Missense_Mutation_p.F120L|VIPAS39_ENST00000343765.2_Missense_Mutation_p.F94L|VIPAS39_ENST00000448935.2_Intron	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	94					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.F94L(1)									TAGGAGGAGAAGCTGTTTCGG	0.478																																					p.F94L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T280C	14						.						317.0	246.0	270.0					14																	77917593		2203	4300	6503	76987346	SO:0001583	missense	63894	exon5			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.280T>C	14.37:g.77917593A>G	ENSP00000452181:p.Phe94Leu		76987346	NM_022067	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935506	0.34189	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.49	3.01	0.34805	.	0.520186	0.21982	N	0.066296	T	0.18676	0.0448	N	0.04959	-0.14	0.29671	N	0.842472	B	0.02656	0.0	B	0.04013	0.001	T	0.14531	-1.0469	10	0.20046	T	0.44	-11.7183	7.4674	0.27330	0.8028:0.0:0.0702:0.127	.	94	Q9H9C1	VIPAR_HUMAN	L	94;94;94;94;120	ENSP00000339122:F94L;ENSP00000452181:F94L;ENSP00000313098:F94L;ENSP00000452191:F94L;ENSP00000451857:F120L	ENSP00000313098:F94L	F	-	1	0	VIPAR	76987346	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.206000	0.42779	0.913000	0.36797	0.460000	0.39030	TTC		0.478	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067	
NRXN3	9369	broad.mit.edu	37	14	79434628	79434628	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:79434628C>A	ENST00000554719.1	+	11	2453	c.1962C>A	c.(1960-1962)cgC>cgA	p.R654R	NRXN3_ENST00000335750.5_Silent_p.R654R	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R654R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGAATGGACGCCTGCCAGACC	0.522																																					p.R654R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1962A	14						.						137.0	116.0	123.0					14																	79434628		2203	4300	6503	78504381	SO:0001819	synonymous_variant	9369	exon11			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1962C>A	14.37:g.79434628C>A			78504381	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	CCDS9870.1																																																																																				0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
EML5	161436	broad.mit.edu	37	14	89130933	89130933	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:89130933T>C	ENST00000380664.5	-	23	3312	c.3313A>G	c.(3313-3315)Agc>Ggc	p.S1105G	EML5_ENST00000352093.5_Missense_Mutation_p.S1067G|EML5_ENST00000554922.1_Missense_Mutation_p.S1105G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1105						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.S1105G(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						TCTATAAAGCTGTCATGGGAT	0.333																																					p.S1105G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3313G	14						.						93.0	90.0	91.0					14																	89130933		1804	4072	5876	88200686	SO:0001583	missense	161436	exon23			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.3313A>G	14.37:g.89130933T>C	ENSP00000370039:p.Ser1105Gly		88200686	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257051	0.59321	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.27557	1.66;2.69;1.66	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.183150	0.47852	D	0.000201	T	0.18130	0.0435	N	0.05441	-0.05	0.39772	D	0.972183	B;B	0.25850	0.0;0.136	B;B	0.32211	0.003;0.142	T	0.12967	-1.0527	10	0.14656	T	0.56	-12.6164	14.4636	0.67467	0.0:0.0:0.0:1.0	.	1105;1105	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	G	1105;1067;1105	ENSP00000451998:S1105G;ENSP00000298315:S1067G;ENSP00000370039:S1105G	ENSP00000298315:S1067G	S	-	1	0	EML5	88200686	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.811000	0.69187	2.089000	0.63090	0.533000	0.62120	AGC		0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
TRIP11	9321	broad.mit.edu	37	14	92439151	92439151	+	Missense_Mutation	SNP	G	G	A	rs148261539	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:92439151G>A	ENST00000267622.4	-	20	6002	c.5629C>T	c.(5629-5631)Cca>Tca	p.P1877S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1877					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P1877S(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTGGTGGTGGAATGGATGGA	0.308			T	PDGFRB	AML																																p.P1877S	Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5629T	14						.						161.0	180.0	174.0					14																	92439151		2203	4299	6502	91508904	SO:0001583	missense	9321	exon20			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5629C>T	14.37:g.92439151G>A	ENSP00000267622:p.Pro1877Ser		91508904	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.713050|4.713050	0.89112|0.89112	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04758|.	3.56|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.055483|.	0.85682|.	D|.	0.000000|.	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.988|.	T|T	0.76285|0.76285	-0.3015|-0.3015	10|5	0.62326|.	D|.	0.03|.	.|.	19.9403|19.9403	0.97159|0.97159	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1613;1877|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	S|F	1877;1613|1592	ENSP00000267622:P1877S|.	ENSP00000267622:P1877S|.	P|S	-|-	1|2	0|0	TRIP11|TRIP11	91508904|91508904	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	8.470000|8.470000	0.90399|0.90399	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.308	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
SLC24A4	123041	broad.mit.edu	37	14	92915519	92915519	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:92915519A>G	ENST00000532405.1	+	10	1065	c.839A>G	c.(838-840)gAc>gGc	p.D280G	SLC24A4_ENST00000393265.2_Missense_Mutation_p.D216G|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D263G|SLC24A4_ENST00000351924.5_Intron			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	280					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D263G(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GATTTCTATGACGGTAGCTAT	0.493																																					p.D280G	NSCLC(10;315 435 10383 28450 38798)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A839G	14						.						132.0	98.0	109.0					14																	92915519		2203	4300	6503	91985272	SO:0001583	missense	123041	exon10			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.839A>G	14.37:g.92915519A>G	ENSP00000431840:p.Asp280Gly		91985272	NM_153646	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441091	0.43326	.	.	ENSG00000140090	ENST00000393265;ENST00000532405;ENST00000298877;ENST00000318079	T;T;T	0.68903	-0.36;0.03;-0.36	5.49	1.86	0.25419	.	0.444204	0.21895	N	0.067531	T	0.56470	0.1987	L	0.61218	1.895	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.41662	-0.9496	10	0.23302	T	0.38	.	6.3202	0.21213	0.6788:0.1218:0.1994:0.0	.	280	Q8NFF2	NCKX4_HUMAN	G	216;280;263;132	ENSP00000376948:D216G;ENSP00000431840:D280G;ENSP00000298877:D263G	ENSP00000298877:D263G	D	+	2	0	SLC24A4	91985272	0.993000	0.37304	0.769000	0.31535	0.961000	0.63080	2.646000	0.46630	0.075000	0.16796	0.459000	0.35465	GAC		0.493	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
PPP4R4	57718	broad.mit.edu	37	14	94708656	94708656	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:94708656T>G	ENST00000304338.3	+	11	1331	c.1177T>G	c.(1177-1179)Ttc>Gtc	p.F393V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	393					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.F393V(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCCTAAAAACTTCCACATGGA	0.388																																					p.F393V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1177G	14						.						225.0	214.0	218.0					14																	94708656		2203	4300	6503	93778409	SO:0001583	missense	57718	exon11			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1177T>G	14.37:g.94708656T>G	ENSP00000305924:p.Phe393Val		93778409	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912340	0.72983	.	.	ENSG00000119698	ENST00000304338	T	0.29917	1.55	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.78637	2.42	0.80722	D	1	D	0.57899	0.981	P	0.57679	0.825	T	0.54241	-0.8323	10	0.44086	T	0.13	-13.7453	15.1844	0.72989	0.0:0.0:0.0:1.0	.	393	Q6NUP7	PP4R4_HUMAN	V	393	ENSP00000305924:F393V	ENSP00000305924:F393V	F	+	1	0	PPP4R4	93778409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.746000	0.74866	1.990000	0.58119	0.533000	0.62120	TTC		0.388	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
PPP4R4	57718	broad.mit.edu	37	14	94733342	94733342	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:94733342A>G	ENST00000304338.3	+	23	2579	c.2425A>G	c.(2425-2427)Aag>Gag	p.K809E		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	809					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.K809E(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AGGGTTAGGAAAGACTTCTGT	0.299																																					p.K809E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2425G	14						.						83.0	82.0	82.0					14																	94733342		2201	4294	6495	93803095	SO:0001583	missense	57718	exon23			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2425A>G	14.37:g.94733342A>G	ENSP00000305924:p.Lys809Glu		93803095	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306541	0.40795	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.83	5.83	0.93111	.	0.338661	0.31031	N	0.008384	T	0.50531	0.1621	L	0.29908	0.895	0.80722	D	1	B	0.33694	0.421	B	0.37601	0.254	T	0.54200	-0.8329	9	0.59425	D	0.04	-3.7922	14.7511	0.69528	1.0:0.0:0.0:0.0	.	809	Q6NUP7	PP4R4_HUMAN	E	809	.	ENSP00000305924:K809E	K	+	1	0	PPP4R4	93803095	1.000000	0.71417	0.901000	0.35422	0.442000	0.32017	5.564000	0.67359	2.225000	0.72522	0.383000	0.25322	AAG		0.299	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA4	5267	broad.mit.edu	37	14	95035767	95035767	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:95035767T>C	ENST00000557004.1	+	5	1540	c.1119T>C	c.(1117-1119)gcT>gcC	p.A373A	SERPINA4_ENST00000555095.1_Silent_p.A373A|SERPINA4_ENST00000298841.5_Silent_p.A373A|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	373					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A373A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGGATGAGGCTGGCACCGAGG	0.567																																					p.A373A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1119C	14						.						55.0	45.0	48.0					14																	95035767		2203	4300	6503	94105520	SO:0001819	synonymous_variant	5267	exon5			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1119T>C	14.37:g.95035767T>C			94105520	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	CCDS9927.1																																																																																				0.567	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
SETD3	84193	broad.mit.edu	37	14	99865456	99865456	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:99865456T>C	ENST00000331768.5	-	13	1504	c.1345A>G	c.(1345-1347)Aaa>Gaa	p.K449E		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	449					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.K449E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AAGACGGATTTATCTTCCTGG	0.418																																					p.K449E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1345G	14						.						53.0	55.0	54.0					14																	99865456		2203	4300	6503	98935209	SO:0001583	missense	84193	exon13			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1345A>G	14.37:g.99865456T>C	ENSP00000327436:p.Lys449Glu		98935209	NM_032233	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	T	4.037	0.004434	0.07866	.	.	ENSG00000183576	ENST00000331768	T	0.18338	2.22	5.12	2.63	0.31362	Rubisco LS methyltransferase, substrate-binding domain (3);	0.467594	0.24823	N	0.035317	T	0.07503	0.0189	N	0.10809	0.05	0.40851	D	0.983753	B	0.06786	0.001	B	0.06405	0.002	T	0.29488	-1.0010	10	0.02654	T	1	-13.7634	11.7544	0.51868	0.0:0.0:0.28:0.72	.	449	Q86TU7	SETD3_HUMAN	E	449	ENSP00000327436:K449E	ENSP00000327436:K449E	K	-	1	0	SETD3	98935209	1.000000	0.71417	0.027000	0.17364	0.971000	0.66376	2.343000	0.44001	0.245000	0.21373	0.533000	0.62120	AAA		0.418	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233	
KLC1	3831	broad.mit.edu	37	14	104124001	104124001	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr14:104124001C>T	ENST00000348520.6	+	3	699	c.380C>T	c.(379-381)aCg>aTg	p.T127M	KLC1_ENST00000557450.1_Missense_Mutation_p.T127M|KLC1_ENST00000452929.2_Missense_Mutation_p.T127M|KLC1_ENST00000380038.3_Missense_Mutation_p.T127M|KLC1_ENST00000389744.4_Missense_Mutation_p.T127M|KLC1_ENST00000553286.1_Missense_Mutation_p.T127M|KLC1_ENST00000347839.6_Missense_Mutation_p.T127M|KLC1_ENST00000554280.1_Missense_Mutation_p.T127M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T299M|KLC1_ENST00000555836.1_Missense_Mutation_p.T127M|KLC1_ENST00000557575.1_Missense_Mutation_p.T127M|KLC1_ENST00000445352.4_Missense_Mutation_p.T127M|KLC1_ENST00000334553.6_Missense_Mutation_p.T127M|KLC1_ENST00000246489.7_Missense_Mutation_p.T127M	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	127					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.T127M(1)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CTGGCCAACACGCAGCAGAAA	0.502																																					p.T127M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380T	14						.						100.0	82.0	88.0					14																	104124001		2203	4300	6503	103193754	SO:0001583	missense	3831	exon3			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.380C>T	14.37:g.104124001C>T	ENSP00000341154:p.Thr127Met		103193754	NM_001130107	A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138289	0.94560	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.49	5.49	0.81192	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.85682	D	0.000000	T	0.75860	0.3907	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998	D;D;D;D;P	0.91635	0.999;0.982;0.97;0.998;0.876	T	0.78122	-0.2327	10	0.72032	D	0.01	-15.5146	19.7433	0.96241	0.0:1.0:0.0:0.0	.	127;127;299;127;127	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	M	127;127;127;127;127;127;127;127;127;127;127;127;127;127;127;299	ENSP00000450786:T127M;ENSP00000341154:T127M;ENSP00000369377:T127M;ENSP00000374394:T127M;ENSP00000450617:T127M;ENSP00000452487:T127M;ENSP00000334618:T127M;ENSP00000452481:T127M;ENSP00000334523:T127M;ENSP00000246489:T127M;ENSP00000450648:T127M;ENSP00000451242:T127M;ENSP00000414982:T127M;ENSP00000412693:T127M;ENSP00000439065:T299M	ENSP00000246489:T127M	T	+	2	0	KLC1;RP11-73M18.2	103193754	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	7.776000	0.85560	2.733000	0.93635	0.655000	0.94253	ACG		0.502	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552	
NPAP1	23742	broad.mit.edu	37	15	24921476	24921476	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:24921476A>C	ENST00000329468.2	+	1	936	c.462A>C	c.(460-462)caA>caC	p.Q154H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	154					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q154H(1)									TGTGGGCCCAAGAAGGGCCCA	0.607																																					p.Q154H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A462C	15						.						33.0	33.0	33.0					15																	24921476		2203	4297	6500	22472569	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.462A>C	15.37:g.24921476A>C	ENSP00000333735:p.Gln154His		22472569	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.35	1.912181	0.33721	.	.	ENSG00000185823	ENST00000329468	T	0.07688	3.17	2.12	-0.275	0.12906	.	2.535070	0.02006	N	0.046649	T	0.07369	0.0186	L	0.29908	0.895	0.09310	N	1	D	0.53462	0.96	B	0.41299	0.353	T	0.24764	-1.0151	10	0.66056	D	0.02	.	4.2421	0.10654	0.6253:0.0:0.3747:0.0	.	154	Q9NZP6	CO002_HUMAN	H	154	ENSP00000333735:Q154H	ENSP00000333735:Q154H	Q	+	3	2	C15orf2	22472569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.003000	0.12901	-0.075000	0.12798	-0.425000	0.05940	CAA		0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
GABRB3	2562	broad.mit.edu	37	15	26866527	26866527	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:26866527T>C	ENST00000311550.5	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	GABRB3_ENST00000400188.3_Missense_Mutation_p.H61R|GABRB3_ENST00000541819.2_Missense_Mutation_p.H188R|GABRB3_ENST00000545868.1_Missense_Mutation_p.H47R|GABRB3_ENST00000299267.4_Missense_Mutation_p.H132R	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	132					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|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)|GABA-gated chloride ion channel activity (GO:0022851)	p.H132R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCACTCCATGCACAAATGA	0.483																																					p.H132R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A395G	15						.						157.0	137.0	144.0					15																	26866527		2203	4300	6503	24417620	SO:0001583	missense	2562	exon4				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.395A>G	15.37:g.26866527T>C	ENSP00000308725:p.His132Arg		24417620	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631377	0.87660	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.77	5.77	0.91146	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90830	0.7120	M	0.88842	2.985	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.71656	0.96;0.929;0.974	D	0.92396	0.5925	10	0.72032	D	0.01	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	188;132;132	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	R	132;188;132;61;47;47	ENSP00000308725:H132R;ENSP00000442408:H188R;ENSP00000299267:H132R;ENSP00000383049:H61R;ENSP00000439169:H47R;ENSP00000452272:H47R	ENSP00000299267:H132R	H	-	2	0	GABRB3	24417620	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.880000	0.87243	2.218000	0.71995	0.378000	0.23410	CAT		0.483	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GABRG3	2567	broad.mit.edu	37	15	27777993	27777993	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:27777993A>G	ENST00000333743.6	+	10	1624	c.1370A>G	c.(1369-1371)aAc>aGc	p.N457S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	457					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.N457S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	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)|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)	CTGCTCTTTAACCTGGTCTAC	0.493																																					p.N457S	NSCLC(114;800 1656 7410 37729 45293)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1370G	15						.						57.0	57.0	57.0					15																	27777993		1944	4129	6073	25451588	SO:0001583	missense	2567	exon10				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1370A>G	15.37:g.27777993A>G	ENSP00000331912:p.Asn457Ser		25451588	NM_033223	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719663	0.89205	.	.	ENSG00000182256	ENST00000333743	D	0.85861	-2.04	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.115517	0.56097	D	0.000025	D	0.92993	0.7770	M	0.89840	3.065	0.80722	D	1	D	0.55385	0.971	D	0.63033	0.91	D	0.94302	0.7538	10	0.87932	D	0	.	14.9033	0.70696	1.0:0.0:0.0:0.0	.	457	Q99928	GBRG3_HUMAN	S	457	ENSP00000331912:N457S	ENSP00000331912:N457S	N	+	2	0	GABRG3	25451588	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.906000	0.92626	2.112000	0.64535	0.528000	0.53228	AAC		0.493	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		
HERC2	8924	broad.mit.edu	37	15	28361942	28361942	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:28361942A>C	ENST00000261609.7	-	88	13586	c.13478T>G	c.(13477-13479)cTg>cGg	p.L4493R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.L4493R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCGTTCTGCAGCTCCTCACA	0.622																																					p.L4493R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T13478G	15						.						78.0	72.0	74.0					15																	28361942		2203	4300	6503	26035537	SO:0001583	missense	8924	exon88			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13478T>G	15.37:g.28361942A>C	ENSP00000261609:p.Leu4493Arg		26035537	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.898174	0.91962	.	.	ENSG00000128731	ENST00000261609	T	0.52983	0.64	5.55	5.55	0.83447	HECT (3);	0.000000	0.64402	D	0.000001	T	0.77552	0.4147	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84529	0.0632	10	0.87932	D	0	.	15.6983	0.77517	1.0:0.0:0.0:0.0	.	4493;182	O95714;Q8ND39	HERC2_HUMAN;.	R	4493	ENSP00000261609:L4493R	ENSP00000261609:L4493R	L	-	2	0	HERC2	26035537	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.332000	0.96446	2.112000	0.64535	0.459000	0.35465	CTG		0.622	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28478879	28478879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:28478879G>A	ENST00000261609.7	-	28	4390	c.4282C>T	c.(4282-4284)Ccc>Tcc	p.P1428S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1428S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCTCGGGGGGAAACATGATC	0.458																																					p.P1428S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4282T	15						.						53.0	51.0	51.0					15																	28478879		2203	4283	6486	26152474	SO:0001583	missense	8924	exon28			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4282C>T	15.37:g.28478879G>A	ENSP00000261609:p.Pro1428Ser		26152474	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	g	9.301	1.053063	0.19907	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.26780	-1.0093	10	0.13470	T	0.59	.	17.2162	0.86945	0.0:0.0:1.0:0.0	.	1428	O95714	HERC2_HUMAN	S	1428	ENSP00000261609:P1428S	ENSP00000261609:P1428S	P	-	1	0	HERC2	26152474	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	9.260000	0.95568	2.360000	0.80028	0.550000	0.68814	CCC		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28483842	28483842	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:28483842A>G	ENST00000261609.7	-	24	3762	c.3654T>C	c.(3652-3654)caT>caC	p.H1218H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.H1218H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCTTTATTATGGTTCTCCA	0.378																																					p.H1218H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3654C	15						.						70.0	65.0	67.0					15																	28483842		2203	4300	6503	26157437	SO:0001819	synonymous_variant	8924	exon24			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3654T>C	15.37:g.28483842A>G			26157437	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
TJP1	7082	broad.mit.edu	37	15	30001002	30001002	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:30001002T>C	ENST00000346128.6	-	25	5085	c.4611A>G	c.(4609-4611)cgA>cgG	p.R1537R	TJP1_ENST00000545208.2_Silent_p.R1457R|TJP1_ENST00000356107.6_Silent_p.R1537R|TJP1_ENST00000400011.2_Silent_p.R1461R	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1537					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R1537R(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTTCAAATGGTCGGGCAGAAC	0.408																																					p.R1457R	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4371G	15						.						312.0	287.0	295.0					15																	30001002		1916	4150	6066	27788294	SO:0001819	synonymous_variant	7082	exon24				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4611A>G	15.37:g.30001002T>C			27788294	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	CCDS42007.1																																																																																				0.408	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
CHST14	113189	broad.mit.edu	37	15	40764412	40764412	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:40764412G>A	ENST00000306243.5	+	1	1253	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CHST14_ENST00000559991.1_Missense_Mutation_p.E309K	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	334					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)	p.E334K(1)		cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		AGCCAGCCCCGAAAGCCTGCA	0.622																																					p.E334K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	15						.						61.0	63.0	63.0					15																	40764412		2203	4300	6503	38551704	SO:0001583	missense	113189	exon1			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.1000G>A	15.37:g.40764412G>A	ENSP00000307297:p.Glu334Lys		38551704	NM_130468	Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215547	0.79352	.	.	ENSG00000169105	ENST00000306243	T	0.73363	-0.74	4.76	4.76	0.60689	.	0.065612	0.64402	D	0.000017	T	0.77232	0.4100	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	P	0.58130	0.833	T	0.73786	-0.3873	10	0.25106	T	0.35	-17.6425	16.9372	0.86206	0.0:0.0:1.0:0.0	.	334	Q8NCH0	CHSTE_HUMAN	K	334	ENSP00000307297:E334K	ENSP00000307297:E334K	E	+	1	0	CHST14	38551704	1.000000	0.71417	0.887000	0.34795	0.988000	0.76386	4.595000	0.61048	2.477000	0.83638	0.655000	0.94253	GAA		0.622	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468	
EHD4	30844	broad.mit.edu	37	15	42192996	42192996	+	Silent	SNP	G	G	A	rs138964472	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:42192996G>A	ENST00000220325.4	-	6	1556	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	491	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.A491A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGTCGCAGTCGGCCAGCTTCC	0.592													G|||	7	0.00139776	0.0	0.0	5008	,	,		18808	0.0069		0.0	False		,,,				2504	0.0				p.A491A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1473T	15						.						80.0	68.0	72.0					15																	42192996		2203	4299	6502	39980288	SO:0001819	synonymous_variant	30844	exon6			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1473C>T	15.37:g.42192996G>A			39980288	NM_139265	Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																				0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
TTBK2	146057	broad.mit.edu	37	15	43045421	43045421	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:43045421C>A	ENST00000267890.6	-	14	2131	c.2023G>T	c.(2023-2025)Gca>Tca	p.A675S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	675					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A675S(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTGTAGATGCCACAGAAGGT	0.403																																					p.A675S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2023T	15						.						40.0	38.0	39.0					15																	43045421		1852	4100	5952	40832713	SO:0001583	missense	146057	exon14			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2023G>T	15.37:g.43045421C>A	ENSP00000267890:p.Ala675Ser		40832713	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137589	0.56936	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39787	1.06	5.82	5.82	0.92795	.	0.130286	0.52532	D	0.000074	T	0.37210	0.0995	L	0.56769	1.78	0.80722	D	1	B;P	0.40731	0.433;0.728	B;B	0.31946	0.11;0.138	T	0.38714	-0.9648	10	0.66056	D	0.02	.	13.3221	0.60438	0.0:0.9282:0.0:0.0718	.	606;675	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	S	675;605;1080	ENSP00000267890:A675S	ENSP00000263802:A1080S	A	-	1	0	TTBK2	40832713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.804000	0.47931	2.745000	0.94114	0.655000	0.94253	GCA		0.403	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
TGM5	9333	broad.mit.edu	37	15	43552646	43552646	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:43552646G>A	ENST00000220420.5	-	2	149	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	TGM5_ENST00000349114.4_Missense_Mutation_p.R48W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	48					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R48W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGGAAGCTCCGGTTCCTGAAG	0.572																																					p.R48W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C142T	15						.						85.0	91.0	89.0					15																	43552646		2202	4299	6501	41339938	SO:0001583	missense	9333	exon2			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.142C>T	15.37:g.43552646G>A	ENSP00000220420:p.Arg48Trp		41339938	NM_004245	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245521	0.59103	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.90900	-2.75;-2.75	5.11	4.13	0.48395	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95178	0.8437	M	0.88640	2.97	0.23969	N	0.996312	D;D	0.89917	1.0;1.0	D;D	0.91635	0.941;0.999	D	0.88188	0.2875	10	0.87932	D	0	-31.3981	10.1313	0.42680	0.0:0.0:0.7085:0.2915	.	48;48	O43548-2;O43548	.;TGM5_HUMAN	W	48;48;47	ENSP00000220420:R48W;ENSP00000220419:R48W	ENSP00000220420:R48W	R	-	1	2	TGM5	41339938	0.967000	0.33354	1.000000	0.80357	0.464000	0.32679	1.346000	0.33964	2.664000	0.90586	0.555000	0.69702	CGG		0.572	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
HDC	3067	broad.mit.edu	37	15	50544965	50544965	+	Missense_Mutation	SNP	C	C	T	rs138457034		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:50544965C>T	ENST00000267845.3	-	8	1196	c.794G>A	c.(793-795)cGt>cAt	p.R265H	HDC_ENST00000543581.1_Missense_Mutation_p.R265H	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.R265H(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)		CAGCCCCTCACGGGCACCTGA	0.607																																					p.R265H	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	15						.						27.0	26.0	26.0					15																	50544965		2196	4295	6491	48332257	SO:0001583	missense	3067	exon8				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.794G>A	15.37:g.50544965C>T	ENSP00000267845:p.Arg265His		48332257	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376188	0.24857	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.40476	1.03;1.03	5.08	-0.144	0.13440	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.549880	0.03297	N	0.188391	T	0.41351	0.1155	M	0.73319	2.225	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.11329	0.006;0.006	T	0.27872	-1.0061	10	0.62326	D	0.03	11.1201	2.3416	0.04261	0.1117:0.4172:0.1206:0.3506	.	265;265	B7ZM01;P19113	.;DCHS_HUMAN	H	265	ENSP00000267845:R265H;ENSP00000440252:R265H	ENSP00000267845:R265H	R	-	2	0	HDC	48332257	0.000000	0.05858	0.002000	0.10522	0.707000	0.40811	0.564000	0.23563	-0.289000	0.09038	-1.108000	0.02087	CGT		0.607	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
TMOD2	29767	broad.mit.edu	37	15	52090430	52090430	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:52090430A>G	ENST00000249700.4	+	8	990	c.769A>G	c.(769-771)Aca>Gca	p.T257A	TMOD2_ENST00000435126.2_Missense_Mutation_p.T221A|TMOD2_ENST00000539962.2_Missense_Mutation_p.T213A	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	257					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.T257A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CAAGACCTTGACAAGTCTAAA	0.338																																					p.T257A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A769G	15						.						73.0	71.0	72.0					15																	52090430		2195	4293	6488	49877722	SO:0001583	missense	29767	exon8			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.769A>G	15.37:g.52090430A>G	ENSP00000249700:p.Thr257Ala		49877722	NM_014548	B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089462	0.36855	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	D;D;D	0.93604	-3.25;-3.25;-3.25	5.2	4.08	0.47627	.	0.390712	0.29073	N	0.013230	D	0.88937	0.6573	L	0.39147	1.195	0.24087	N	0.99593	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.007	T	0.79067	-0.1955	10	0.39692	T	0.17	-10.4012	10.7297	0.46089	0.9258:0.0:0.0742:0.0	.	221;257	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	A	221;257;213	ENSP00000404590:T221A;ENSP00000249700:T257A;ENSP00000437743:T213A	ENSP00000249700:T257A	T	+	1	0	TMOD2	49877722	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	3.125000	0.50469	1.006000	0.39211	0.482000	0.46254	ACA		0.338	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2		
MYO5A	4644	broad.mit.edu	37	15	52680051	52680051	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:52680051T>C	ENST00000399231.3	-	14	1970	c.1727A>G	c.(1726-1728)cAa>cGa	p.Q576R	MYO5A_ENST00000399233.2_Missense_Mutation_p.Q576R|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q576R|MYO5A_ENST00000553916.1_Missense_Mutation_p.Q576R|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q576R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	576	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.Q576R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AACTTTAATTTGTTCTTCAAA	0.308																																					p.Q576R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1727G	15						.						132.0	129.0	130.0					15																	52680051		1798	4062	5860	50467343	SO:0001583	missense	4644	exon14				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1727A>G	15.37:g.52680051T>C	ENSP00000382177:p.Gln576Arg		50467343	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949445	0.92660	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	5.74	5.74	0.90152	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	M	0.82056	2.57	0.80722	D	1	D;D	0.67145	0.957;0.996	P;P	0.61477	0.821;0.889	D	0.90218	0.4269	10	0.15499	T	0.54	.	16.0415	0.80687	0.0:0.0:0.0:1.0	.	576;576	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	R	576;110;576;576;576;206;576	ENSP00000382177:Q576R;ENSP00000382179:Q576R;ENSP00000348693:Q576R;ENSP00000350945:Q576R;ENSP00000451109:Q576R	ENSP00000348693:Q576R	Q	-	2	0	MYO5A	50467343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.194000	0.72082	2.191000	0.70037	0.377000	0.23210	CAA		0.308	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
MNS1	55329	broad.mit.edu	37	15	56748624	56748624	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:56748624G>A	ENST00000260453.3	-	3	485	c.321C>T	c.(319-321)gaC>gaT	p.D107D		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	107	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.D107D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCATCTTTTCGTCCTTTAGAC	0.338																																					p.D107D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	15						.						211.0	190.0	197.0					15																	56748624		2191	4292	6483	54535916	SO:0001819	synonymous_variant	55329	exon3			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.321C>T	15.37:g.56748624G>A			54535916	NM_018365	Q8IYT6|Q9NUP4	De_novo_Start_InFrame	SNP	ENST00000260453.3	37	CCDS10158.1																																																																																				0.338	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	
CGNL1	84952	broad.mit.edu	37	15	57809046	57809046	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:57809046G>A	ENST00000281282.5	+	9	2550	c.2472G>A	c.(2470-2472)gtG>gtA	p.V824V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	824						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.V824V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAATGCGCGTGAAGCTTCTGC	0.527																																					p.V824V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2472A	15						.						65.0	61.0	63.0					15																	57809046		2192	4292	6484	55596338	SO:0001819	synonymous_variant	84952	exon9			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2472G>A	15.37:g.57809046G>A			55596338	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	CCDS10161.1																																																																																				0.527	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
VPS13C	54832	broad.mit.edu	37	15	62327169	62327169	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:62327169A>G	ENST00000261517.5	-	4	343	c.270T>C	c.(268-270)gtT>gtC	p.V90V	VPS13C_ENST00000395898.3_Silent_p.V90V|VPS13C_ENST00000249837.3_Silent_p.V90V|VPS13C_ENST00000395896.4_Silent_p.V90V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.V90V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCCAGGGACAACAAGCAGGT	0.308																																					p.V90V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T270C	15						.						85.0	84.0	84.0					15																	62327169		2203	4300	6503	60114461	SO:0001819	synonymous_variant	54832	exon4			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.270T>C	15.37:g.62327169A>G			60114461	NM_017684		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.308	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
PDCD7	10081	broad.mit.edu	37	15	65412089	65412089	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:65412089G>A	ENST00000204549.4	-	3	1267	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	405					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)		p.R405C(1)		endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCAATTTCACGTTTCTGAAGT	0.378																																					p.R405C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1213T	15						.						67.0	69.0	69.0					15																	65412089		2202	4299	6501	63199142	SO:0001583	missense	10081	exon3			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1213C>T	15.37:g.65412089G>A	ENSP00000204549:p.Arg405Cys		63199142	NM_005707	Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931911	0.73442	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.31	5.31	0.75309	.	0.342390	0.22611	N	0.057826	T	0.58892	0.2154	L	0.60455	1.87	0.46521	D	0.999086	D	0.64830	0.994	P	0.46049	0.502	T	0.63427	-0.6640	9	0.56958	D	0.05	-2.3501	14.2205	0.65823	0.0:0.0:0.8507:0.1493	.	405	Q8N8D1	PDCD7_HUMAN	C	405;190;199	.	ENSP00000204549:R405C	R	-	1	0	PDCD7	63199142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.761000	0.55242	2.619000	0.88677	0.655000	0.94253	CGT		0.378	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707	
DENND4A	10260	broad.mit.edu	37	15	65964140	65964140	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:65964140T>C	ENST00000431932.2	-	24	4530	c.4322A>G	c.(4321-4323)tAt>tGt	p.Y1441C	DENND4A_ENST00000443035.3_Missense_Mutation_p.Y1484C	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1441					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Y1443C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTCCATTGCATAGTTCTGGAA	0.368																																					p.Y1484C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4451G	15						.						137.0	132.0	134.0					15																	65964140		1849	4097	5946	63751194	SO:0001583	missense	10260	exon25			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4322A>G	15.37:g.65964140T>C	ENSP00000396830:p.Tyr1441Cys		63751194	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.829569	0.71258	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04862	3.56;3.54	6.08	6.08	0.98989	.	0.240434	0.44097	D	0.000490	T	0.16171	0.0389	L	0.31207	0.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.03534	-1.1027	10	0.37606	T	0.19	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	1484;1441	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1484;1441	ENSP00000391167:Y1484C;ENSP00000396830:Y1441C	ENSP00000396830:Y1441C	Y	-	2	0	DENND4A	63751194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.703000	0.61824	2.333000	0.79357	0.482000	0.46254	TAT		0.368	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
ITGA11	22801	broad.mit.edu	37	15	68617565	68617565	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:68617565G>A	ENST00000315757.7	-	18	2312	c.2226C>T	c.(2224-2226)taC>taT	p.Y742Y	ITGA11_ENST00000423218.2_Silent_p.Y742Y	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	742					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.Y742Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CTGGCTTCACGTAGTCAGCAG	0.587																																					p.Y742Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2226T	15						.						63.0	67.0	65.0					15																	68617565		2124	4227	6351	66404619	SO:0001819	synonymous_variant	22801	exon18			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2226C>T	15.37:g.68617565G>A			66404619	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.587	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
MYO9A	4649	broad.mit.edu	37	15	72191075	72191075	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:72191075T>C	ENST00000356056.5	-	25	4241	c.3769A>G	c.(3769-3771)Aga>Gga	p.R1257G	MYO9A_ENST00000566885.1_Missense_Mutation_p.R877G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1257G|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1238G|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1257G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1257	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.R1257G(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						TCCAAGGATCTGGGTCTCTCT	0.473																																					p.R1257G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3769G	15						.						149.0	146.0	147.0					15																	72191075		2199	4297	6496	69978129	SO:0001583	missense	4649	exon25			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.3769A>G	15.37:g.72191075T>C	ENSP00000348349:p.Arg1257Gly		69978129	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292558	0.40594	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85955	-2.04;-2.05;-2.04	5.31	5.31	0.75309	.	.	.	.	.	T	0.76688	0.4022	N	0.19112	0.55	0.36816	D	0.886146	B;B	0.26902	0.163;0.06	B;B	0.26310	0.068;0.021	T	0.76830	-0.2814	9	0.37606	T	0.19	.	15.2483	0.73523	0.0:0.0:0.0:1.0	.	1238;1257	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	G	1257;1257;1238	ENSP00000348349:R1257G;ENSP00000399162:R1257G;ENSP00000398250:R1238G	ENSP00000348349:R1257G	R	-	1	2	MYO9A	69978129	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.435000	0.59941	2.010000	0.58986	0.477000	0.44152	AGA		0.473	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
PKM	5315	broad.mit.edu	37	15	72499595	72499595	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:72499595C>A	ENST00000335181.5	-	7	963	c.860G>T	c.(859-861)aGt>aTt	p.S287I	PKM_ENST00000449901.2_Missense_Mutation_p.S272I|PKM_ENST00000565184.1_Missense_Mutation_p.S287I|PKM_ENST00000568459.1_Missense_Mutation_p.S287I|PKM_ENST00000389093.3_Missense_Mutation_p.S287I|PKM_ENST00000319622.6_Missense_Mutation_p.S287I|PKM_ENST00000568883.1_Missense_Mutation_p.S122I|PKM_ENST00000565154.1_Missense_Mutation_p.S287I	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	287					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.S287I(1)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GATCCCATCACTGGCCTCCAG	0.493																																					p.S287I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860T	15						.						62.0	56.0	58.0					15																	72499595		2199	4297	6496	70286649	SO:0001583	missense	5315	exon7			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.860G>T	15.37:g.72499595C>A	ENSP00000334983:p.Ser287Ile		70286649	NM_002654	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935133	0.92458	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99515	-6.06;-6.06;-6.06;-6.06	4.93	4.93	0.64822	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.96970	3.915	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999;0.997;0.999;0.999;0.997	D	0.97154	0.9833	10	0.87932	D	0	-12.5459	18.5077	0.90904	0.0:1.0:0.0:0.0	.	213;272;267;267;287;287;122;214;122	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	I	287;287;214;122;287;272	ENSP00000320171:S287I;ENSP00000334983:S287I;ENSP00000373745:S287I;ENSP00000403365:S272I	ENSP00000320171:S287I	S	-	2	0	PKM2	70286649	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.810000	0.86072	2.432000	0.82394	0.561000	0.74099	AGT		0.493	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1		
NEO1	4756	broad.mit.edu	37	15	73418899	73418899	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:73418899T>C	ENST00000339362.5	+	5	1313	c.866T>C	c.(865-867)cTt>cCt	p.L289P	NEO1_ENST00000558964.1_Missense_Mutation_p.L289P|NEO1_ENST00000261908.6_Missense_Mutation_p.L289P|NEO1_ENST00000560262.1_Missense_Mutation_p.L289P			Q92859	NEO1_HUMAN	neogenin 1	289	Ig-like C2-type 3.				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.L289P(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						GAGGAGGCACTTGACACAGAA	0.413																																					p.L289P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T866C	15						.						130.0	100.0	110.0					15																	73418899		2198	4297	6495	71205952	SO:0001583	missense	4756	exon4			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.866T>C	15.37:g.73418899T>C	ENSP00000341198:p.Leu289Pro		71205952	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108889	0.56398	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.72725	-0.68;-0.68	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.218004	0.39615	N	0.001309	D	0.85309	0.5667	M	0.86740	2.835	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.993	D;D;D	0.68483	0.958;0.934;0.934	D	0.88058	0.2792	10	0.72032	D	0.01	-8.9236	15.0685	0.72014	0.0:0.0:0.0:1.0	.	289;289;289	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	P	289;7;289	ENSP00000341198:L289P;ENSP00000261908:L289P	ENSP00000261908:L289P	L	+	2	0	NEO1	71205952	0.914000	0.31030	0.913000	0.36048	0.303000	0.27691	5.414000	0.66405	2.040000	0.60383	0.383000	0.25322	CTT		0.413	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
CCDC33	80125	broad.mit.edu	37	15	74573040	74573040	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:74573040G>A	ENST00000398814.3	+	9	1352	c.921G>A	c.(919-921)caG>caA	p.Q307Q	CCDC33_ENST00000321288.5_Silent_p.Q510Q	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	510	C2.							p.Q307Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCTCAACCAGCCCCTGGGCA	0.597																																					p.Q307Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G921A	15						.						81.0	92.0	89.0					15																	74573040		1910	4131	6041	72360093	SO:0001819	synonymous_variant	80125	exon9			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.921G>A	15.37:g.74573040G>A			72360093	NM_025055	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	CCDS42058.1																																																																																				0.597	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791	
LMAN1L	79748	broad.mit.edu	37	15	75117908	75117908	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:75117908C>A	ENST00000309664.5	+	14	1682	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	CPLX3_ENST00000395018.4_5'Flank|RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.L503M	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	515						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L515M(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGGGGATTCTGAGGAGGCA	0.632																																					p.L515M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1543A	15						.						71.0	75.0	74.0					15																	75117908		2197	4295	6492	72904961	SO:0001583	missense	79748	exon14			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1543C>A	15.37:g.75117908C>A	ENSP00000310431:p.Leu515Met		72904961	NM_021819	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323694	0.24080	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.49432	0.79;0.78	3.93	3.01	0.34805	.	0.220649	0.23181	N	0.051006	T	0.47525	0.1450	L	0.43923	1.385	0.09310	N	1	P;P	0.41131	0.739;0.622	P;B	0.48400	0.576;0.372	T	0.39800	-0.9596	10	0.87932	D	0	.	9.7989	0.40753	0.0:0.7911:0.2089:0.0	.	503;515	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	M	515;503	ENSP00000310431:L515M;ENSP00000369031:L503M	ENSP00000310431:L515M	L	+	1	2	LMAN1L	72904961	0.002000	0.14202	0.094000	0.20943	0.003000	0.03518	0.107000	0.15375	1.237000	0.43756	-0.264000	0.10439	CTG		0.632	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		
ACSBG1	23205	broad.mit.edu	37	15	78472020	78472020	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:78472020C>T	ENST00000258873.4	-	10	1561	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	ACSBG1_ENST00000541759.1_Silent_p.A210A|ACSBG1_ENST00000560817.1_Silent_p.A210A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	452					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A452A(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCATGGGGGCCGCTCCATAGA	0.557																																					p.A448A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1344A	15						.						77.0	70.0	73.0					15																	78472020		2196	4293	6489	76259075	SO:0001819	synonymous_variant	23205	exon10			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1356G>A	15.37:g.78472020C>T			76259075	NM_001199377	B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																				0.557	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
ADAMTSL3	57188	broad.mit.edu	37	15	84560131	84560131	+	Splice_Site	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:84560131G>A	ENST00000286744.5	+	12	1486	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	ADAMTSL3_ENST00000567476.1_Splice_Site_p.R421H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	421	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R421H(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCTTCCTCGGTGAGTTATA	0.328																																					p.R421H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262A	15						.						220.0	192.0	202.0					15																	84560131		2203	4300	6503	82351135	SO:0001630	splice_region_variant	57188	exon12			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1262+1G>A	15.37:g.84560131G>A			82351135	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574694	0.96553	.	.	ENSG00000156218	ENST00000286744	T	0.60548	0.18	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.70156	-0.4949	10	0.44086	T	0.13	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	421;421	P82987-2;P82987	.;ATL3_HUMAN	H	421	ENSP00000286744:R421H	ENSP00000286744:R421H	R	+	2	0	ADAMTSL3	82351135	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.366000	0.79548	2.572000	0.86782	0.655000	0.94253	CGC		0.328	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	Missense_Mutation
AKAP13	11214	broad.mit.edu	37	15	86286791	86286791	+	Silent	SNP	G	G	A	rs373781999		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:86286791G>A	ENST00000394518.2	+	36	8222	c.8127G>A	c.(8125-8127)tcG>tcA	p.S2709S	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.S2713S|AKAP13_ENST00000394510.2_Silent_p.S954S|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2709	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S2713S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCCCCCCTCGCCATCTGCAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.001				p.S2713S	Melanoma(94;603 1453 3280 32295 32951)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8139A	15						.						117.0	125.0	123.0					15																	86286791		2202	4299	6501	84087795	SO:0001819	synonymous_variant	11214	exon36			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8127G>A	15.37:g.86286791G>A			84087795	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	CCDS32319.1																																																																																				0.502	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
KIF7	374654	broad.mit.edu	37	15	90171796	90171796	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:90171796G>A	ENST00000394412.3	-	19	3962	c.3886C>T	c.(3886-3888)Cgg>Tgg	p.R1296W	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1296					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R783W(1)|p.R1296W(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCGCCTCCCGCTGCCTCAGT	0.682																																					p.R1296W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3886T	15						.						36.0	41.0	40.0					15																	90171796		2199	4297	6496	87972800	SO:0001583	missense	374654	exon19			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3886C>T	15.37:g.90171796G>A	ENSP00000377934:p.Arg1296Trp		87972800	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385515	0.42308	.	.	ENSG00000166813	ENST00000394412	T	0.71461	-0.57	5.23	2.21	0.28008	.	0.076821	0.53938	D	0.000058	T	0.52273	0.1724	L	0.32530	0.975	0.37380	D	0.911987	B;B	0.22541	0.038;0.071	B;B	0.12156	0.007;0.007	T	0.51593	-0.8686	10	0.66056	D	0.02	.	2.9916	0.05984	0.1466:0.1158:0.5092:0.2284	.	782;1296	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	W	1296	ENSP00000377934:R1296W	ENSP00000377934:R1296W	R	-	1	2	KIF7	87972800	0.494000	0.26043	0.554000	0.28268	0.262000	0.26303	0.830000	0.27462	0.597000	0.29811	0.462000	0.41574	CGG		0.682	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
SV2B	9899	broad.mit.edu	37	15	91795227	91795227	+	Silent	SNP	C	C	T	rs61731608	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:91795227C>T	ENST00000394232.1	+	3	1100	c.630C>T	c.(628-630)atC>atT	p.I210I	SV2B_ENST00000545111.2_Silent_p.I59I|SV2B_ENST00000330276.4_Silent_p.I210I	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	210					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.I210I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTCAGGCATCGGGTATGTTC	0.542													c|||	4	0.000798722	0.0008	0.0	5008	,	,		18410	0.0		0.003	False		,,,				2504	0.0				p.I210I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C630T	15						.	T	,	5,4391	9.9+/-24.2	0,5,2193	115.0	96.0	102.0		177,630	-5.3	0.9	15	dbSNP_129	102	24,8572	17.9+/-57.8	0,24,4274	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	0,29,6467	TT,TC,CC		0.2792,0.1137,0.2232	,	59/533,210/684	91795227	29,12963	2198	4298	6496	89596231	SO:0001819	synonymous_variant	9899	exon4			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.630C>T	15.37:g.91795227C>T			89596231	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																				0.542	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
ST8SIA2	8128	broad.mit.edu	37	15	92977604	92977604	+	Splice_Site	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:92977604A>G	ENST00000268164.3	+	3	526	c.289A>G	c.(289-291)Agg>Ggg	p.R97G	ST8SIA2_ENST00000539113.1_Splice_Site_p.R76G	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	97					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R97G(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCTGAGGATCAGGTACTGGTA	0.448																																					p.R97G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A289G	15						.						136.0	106.0	116.0					15																	92977604		2198	4298	6496	90778608	SO:0001630	splice_region_variant	8128	exon3			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.290+1A>G	15.37:g.92977604A>G			90778608	NM_006011	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403981	0.83230	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.28895	1.59;1.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.55114	-0.8191	10	0.87932	D	0	-0.1223	15.888	0.79269	1.0:0.0:0.0:0.0	.	76;97	C6G488;Q92186	.;SIA8B_HUMAN	G	97;76	ENSP00000268164:R97G;ENSP00000437382:R76G	ENSP00000268164:R97G	R	+	1	2	ST8SIA2	90778608	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.504000	0.73704	2.147000	0.66899	0.533000	0.62120	AGG		0.448	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011	Missense_Mutation
HERC2	8924	broad.mit.edu	37	15	28518050	28518051	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:28518050_28518051delCT	ENST00000261609.7	-	8	1008_1009	c.900_901delAG	c.(898-903)agaggcfs	p.G301fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G301fs*24(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCAGCGTGCCTCTCTGCACAG	0.594																																					p.300_301del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.900_901del	15						.																																			26191646	SO:0001589	frameshift_variant	8924	exon8			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.900_901delAG	15.37:g.28518054_28518055delCT	ENSP00000261609:p.Gly301fs		26191645	NM_004667		Frame_Shift_Del	DEL	ENST00000261609.7	37	CCDS10021.1																																																																																				0.594	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
NUTM1	256646	broad.mit.edu	37	15	34647271	34647271	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:34647271delA	ENST00000333756.4	+	6	1483	c.1328delA	c.(1327-1329)gaafs	p.E443fs	NUTM1_ENST00000438749.3_Frame_Shift_Del_p.E461fs|NUTM1_ENST00000537011.1_Frame_Shift_Del_p.E471fs	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	443						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K444fs*8(1)									CTGTCCCCAGAAAAACAGAGA	0.468																																					p.E443fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1328delA	15						.						124.0	125.0	124.0					15																	34647271		2201	4298	6499	32434563	SO:0001589	frameshift_variant	256646	exon6			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1328delA	15.37:g.34647271delA	ENSP00000329448:p.Glu443fs		32434563	NM_175741	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Frame_Shift_Del	DEL	ENST00000333756.4	37	CCDS32190.1																																																																																				0.468	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
NOX5	79400	broad.mit.edu	37	15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:69331226delT	ENST00000388866.3	+	9	1442	c.1401delT	c.(1399-1401)cctfs	p.P467fs	NOX5_ENST00000260364.5_Frame_Shift_Del_p.P449fs|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Frame_Shift_Del_p.P421fs|NOX5_ENST00000455873.3_Frame_Shift_Del_p.P432fs|NOX5_ENST00000530406.2_Frame_Shift_Del_p.P439fs	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	467	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.H452fs*10(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGCGGCCCCCTTTTTTTCACT	0.537																																					p.P439fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1317delT	15						.						167.0	164.0	165.0					15																	69331226		2200	4298	6498	67118280	SO:0001589	frameshift_variant	79400	exon9			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1401delT	15.37:g.69331226delT	ENSP00000373518:p.Pro467fs		67118280	NM_001184779	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Frame_Shift_Del	DEL	ENST00000388866.3	37	CCDS32276.2																																																																																				0.537	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
MAN2C1	4123	broad.mit.edu	37	15	75650952	75650952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:75650952delC	ENST00000267978.5	-	20	2300	c.2254delG	c.(2254-2256)gtgfs	p.V752fs	MAN2C1_ENST00000569482.1_Frame_Shift_Del_p.V752fs|MAN2C1_ENST00000565683.1_Frame_Shift_Del_p.V769fs|MAN2C1_ENST00000563622.1_Frame_Shift_Del_p.V653fs|RP11-817O13.6_ENST00000563660.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	752					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V752fs*60(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGCCCAGCACAGGCTTCCTA	0.642																																					p.V752fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2254delG	15						.						41.0	41.0	41.0					15																	75650952		2197	4294	6491	73438005	SO:0001589	frameshift_variant	4123	exon20			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2254delG	15.37:g.75650952delC	ENSP00000267978:p.Val752fs		73438005	NM_006715	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Frame_Shift_Del	DEL	ENST00000267978.5	37	CCDS32298.1																																																																																				0.642	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1		
AKAP13	11214	broad.mit.edu	37	15	86122987	86122987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:86122987delA	ENST00000394518.2	+	7	1783	c.1688delA	c.(1687-1689)gaafs	p.E563fs	AKAP13_ENST00000361243.2_Frame_Shift_Del_p.E563fs|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	563					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.T565fs*18(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACCTCCACTGAAAAAACAGCA	0.458																																					p.E563fs	Melanoma(94;603 1453 3280 32295 32951)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1688delA	15						.						82.0	87.0	86.0					15																	86122987		2202	4299	6501	83923991	SO:0001589	frameshift_variant	11214	exon7			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1688delA	15.37:g.86122987delA	ENSP00000378026:p.Glu563fs		83923991	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Del	DEL	ENST00000394518.2	37	CCDS32319.1																																																																																				0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
IQGAP1	8826	broad.mit.edu	37	15	91010726	91010728	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	TAT	TAT	TAT	-	TAT	TAT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:91010726_91010728delTAT	ENST00000268182.5	+	18	2204_2206	c.2080_2082delTAT	c.(2080-2082)tatdel	p.Y697del	IQGAP1_ENST00000560738.1_In_Frame_Del_p.Y125del	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	697	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.Y694delY(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAAGGTGGATATTATTATTACC	0.448																																					p.694_694del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.2080_2082del	15						.																																			88811732	SO:0001651	inframe_deletion	8826	exon18			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2080_2082delTAT	15.37:g.91010732_91010734delTAT	ENSP00000268182:p.Tyr697del		88811730	NM_003870	A7MBM3	In_Frame_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.448	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
MCTP2	55784	broad.mit.edu	37	15	94942221	94942221	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr15:94942221T>C	ENST00000357742.4	+	14	1820	c.1820T>C	c.(1819-1821)cTa>cCa	p.L607P	MCTP2_ENST00000451018.3_Missense_Mutation_p.L607P|MCTP2_ENST00000331706.4_Missense_Mutation_p.L195P|MCTP2_ENST00000557742.1_Missense_Mutation_p.L195P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	607					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.L607P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGTTATGTACTAAAGAATAAA	0.328																																					p.L607P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1820C	15						.						94.0	100.0	98.0					15																	94942221		2196	4297	6493	92743225	SO:0001583	missense	55784	exon14			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1820T>C	15.37:g.94942221T>C	ENSP00000350377:p.Leu607Pro		92743225	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313703	0.60414	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.79845	-1.31;-0.3;-1.19	5.26	5.26	0.73747	C2 calcium/lipid-binding domain, CaLB (1);	0.070917	0.56097	D	0.000021	D	0.90397	0.6994	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92051	0.5648	10	0.87932	D	0	.	15.174	0.72896	0.0:0.0:0.0:1.0	.	607;195;607	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	P	607;195;607	ENSP00000395109:L607P;ENSP00000329646:L195P;ENSP00000350377:L607P	ENSP00000329646:L195P	L	+	2	0	MCTP2	92743225	1.000000	0.71417	0.497000	0.27552	0.695000	0.40330	5.655000	0.67981	1.990000	0.58119	0.460000	0.39030	CTA		0.328	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
MYH11	4629	broad.mit.edu	37	16	15818548	15818548	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:15818548C>T	ENST00000300036.5	-	30	4181	c.4072G>A	c.(4072-4074)Gcc>Acc	p.A1358T	NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000396324.3_Missense_Mutation_p.A1365T|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000576790.2_Missense_Mutation_p.A1358T|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.A1365T|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000342673.5_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1358					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.A1358T(1)|p.A1365T(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						TTCTGCTTGGCCTCCATCTCC	0.587			T	CBFB	AML																																p.A1365T			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4093A	16						.						148.0	137.0	140.0					16																	15818548		2197	4300	6497	15726049	SO:0001583	missense	4629	exon31			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.4072G>A	16.37:g.15818548C>T	ENSP00000300036:p.Ala1358Thr		15726049	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547866	0.86022	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.27	5.27	0.74061	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	M	0.81614	2.55	0.80722	D	1	B;B;B;B;B	0.31318	0.18;0.319;0.319;0.319;0.319	B;B;B;B;B	0.39935	0.248;0.314;0.314;0.314;0.314	D	0.87710	0.2566	10	0.72032	D	0.01	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	1365;1358;1365;1358;1365	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	1358;1358;1365;1365;1365	ENSP00000300036:A1358T;ENSP00000345136:A1358T;ENSP00000379616:A1365T;ENSP00000407821:A1365T	ENSP00000300036:A1358T	A	-	1	0	MYH11	15726049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.866000	0.63005	2.461000	0.83175	0.655000	0.94253	GCC		0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ABCC6	368	broad.mit.edu	37	16	16244493	16244493	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:16244493C>T	ENST00000205557.7	-	30	4374	c.4345G>A	c.(4345-4347)Gca>Aca	p.A1449T		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1449	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.A1449T(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)	GTGCACTGTGCAAACCAGCTC	0.657																																					p.A1449T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4345A	16						.						48.0	38.0	42.0					16																	16244493		2197	4300	6497	16151994	SO:0001583	missense	368	exon30			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.4345G>A	16.37:g.16244493C>T	ENSP00000205557:p.Ala1449Thr		16151994	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	8.624	0.892135	0.17613	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	T	0.80653	-1.4	4.38	2.31	0.28768	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.573802	0.14191	N	0.335354	T	0.69360	0.3102	L	0.50333	1.59	0.80722	D	1	B;B	0.16166	0.007;0.016	B;B	0.14578	0.011;0.011	T	0.61282	-0.7094	10	0.38643	T	0.18	.	0.9653	0.01404	0.175:0.4087:0.1711:0.2452	.	1449;1449	O95255;A8Y988	MRP6_HUMAN;.	T	1449;387	ENSP00000205557:A1449T	ENSP00000205557:A1449T	A	-	1	0	ABCC6	16151994	0.014000	0.17966	0.330000	0.25442	0.046000	0.14306	0.614000	0.24314	0.360000	0.24265	0.561000	0.74099	GCA		0.657	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
C16orf62	57020	broad.mit.edu	37	16	19693612	19693612	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:19693612C>A	ENST00000251143.5	+	28	2439	c.2427C>A	c.(2425-2427)acC>acA	p.T809T	C16orf62_ENST00000438132.3_Silent_p.T898T|C16orf62_ENST00000417362.2_Silent_p.T716T|C16orf62_ENST00000448695.1_Silent_p.T659T|C16orf62_ENST00000542263.1_Silent_p.T805T|C16orf62_ENST00000543152.1_Silent_p.T558T			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	809						integral component of membrane (GO:0016021)		p.T809T(1)|p.T898T(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						AGGACTACACCTGGGAGGACA	0.493																																					p.T898T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2694A	16						.						159.0	140.0	146.0					16																	19693612		2197	4300	6497	19601113	SO:0001819	synonymous_variant	57020	exon28				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.2427C>A	16.37:g.19693612C>A			19601113	NM_020314	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37																																																																																					0.493	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
UQCRC2	7385	broad.mit.edu	37	16	21994490	21994490	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:21994490T>C	ENST00000268379.4	+	14	2124	c.1360T>C	c.(1360-1362)Taa>Caa	p.*454Q	UQCRC2_ENST00000561553.1_Silent_p.C402C	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	0					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.*454Q(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TGATGAGTTGTAATACTGATG	0.398																																					p.X454Q	Colon(123;450 1645 12841 25393 45623)											.	.	1	Nonstop extension(1)	large_intestine(1)	c.T1360C	16						.						119.0	99.0	105.0					16																	21994490		2198	4300	6498	21901991	SO:0001578	stop_lost	7385	exon14			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.1360T>C	16.37:g.21994490T>C	ENSP00000268379:p.*454Glnext*2		21901991	NM_003366	B3KSN4|Q9BQ05	Nonstop_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881475	0.33255	.	.	ENSG00000140740	ENST00000268379	.	.	.	5.13	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.26177	N	0.979783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1918	0.06619	0.1391:0.083:0.1439:0.6339	.	.	.	.	Q	454	.	.	X	+	1	0	UQCRC2	21901991	1.000000	0.71417	0.630000	0.29268	0.256000	0.26092	2.453000	0.44970	0.767000	0.33267	0.533000	0.62120	TAA		0.398	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	
VWA3A	146177	broad.mit.edu	37	16	22149771	22149771	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:22149771C>A	ENST00000389398.5	+	22	2326	c.2230C>A	c.(2230-2232)Cta>Ata	p.L744I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	744						extracellular region (GO:0005576)		p.L744I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GACACTTCAGCTAAGAAGTCA	0.542																																					p.L744I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2230A	16						.						57.0	61.0	60.0					16																	22149771		1918	4132	6050	22057272	SO:0001583	missense	146177	exon22			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2230C>A	16.37:g.22149771C>A	ENSP00000374049:p.Leu744Ile		22057272	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645540	0.14451	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.11169	2.8	5.31	3.15	0.36227	.	1.034190	0.07631	N	0.928683	T	0.06096	0.0158	N	0.08118	0	0.34404	D	0.695646	B;B	0.24823	0.112;0.096	B;B	0.22601	0.04;0.036	T	0.24548	-1.0157	10	0.37606	T	0.19	.	6.4328	0.21807	0.0:0.6619:0.2366:0.1014	.	744;368	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	I	744;367	ENSP00000374049:L744I	ENSP00000299840:L367I	L	+	1	2	VWA3A	22057272	0.982000	0.34865	0.084000	0.20598	0.199000	0.23934	2.389000	0.44407	1.365000	0.46057	0.655000	0.94253	CTA		0.542	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
COG7	91949	broad.mit.edu	37	16	23430068	23430068	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:23430068C>T	ENST00000307149.5	-	8	1275	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	364					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.D364N(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)		TCTTCCATGTCGCCATACTTC	0.498																																					p.D364N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090A	16						.						140.0	102.0	115.0					16																	23430068		2197	4300	6497	23337569	SO:0001583	missense	91949	exon8			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.1090G>A	16.37:g.23430068C>T	ENSP00000305442:p.Asp364Asn		23337569	NM_153603	Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316688	0.23908	.	.	ENSG00000168434	ENST00000307149	T	0.43294	0.95	5.73	1.66	0.24008	.	0.534591	0.23682	N	0.045603	T	0.31420	0.0796	L	0.40543	1.245	0.19775	N	0.99996	B	0.12013	0.005	B	0.12156	0.007	T	0.18650	-1.0330	10	0.33141	T	0.24	-6.2445	10.5926	0.45318	0.0:0.7548:0.0:0.2452	.	364	P83436	COG7_HUMAN	N	364	ENSP00000305442:D364N	ENSP00000305442:D364N	D	-	1	0	COG7	23337569	1.000000	0.71417	0.000000	0.03702	0.531000	0.34715	4.070000	0.57548	0.096000	0.17463	-0.726000	0.03593	GAC		0.498	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1		
GGA2	23062	broad.mit.edu	37	16	23494257	23494257	+	Silent	SNP	G	G	A	rs375256232		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:23494257G>A	ENST00000309859.4	-	9	949	c.867C>T	c.(865-867)gaC>gaT	p.D289D	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'Flank	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	289	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				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.D289D(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)		GTGCATCATCGTCATCAGTGG	0.547																																					p.D289D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	16						.	G		1,4393	2.1+/-5.4	0,1,2196	167.0	118.0	135.0		867	-8.4	0.1	16		135	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GGA2	NM_015044.4		0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231		289/614	23494257	3,12991	2197	4300	6497	23401758	SO:0001819	synonymous_variant	23062	exon9			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.867C>T	16.37:g.23494257G>A			23401758	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																				0.547	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
ATP6V0C	527	broad.mit.edu	37	16	2569391	2569391	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:2569391C>G	ENST00000330398.4	+	2	486	c.252C>G	c.(250-252)atC>atG	p.I84M	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.I41M|ATP6V0C_ENST00000568562.1_3'UTR|RP11-20I23.1_ENST00000564543.1_3'UTR|AMDHD2_ENST00000413459.3_5'Flank|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000302956.4_5'Flank|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.I41M	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	84					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)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				ATGACGACATCAGCCTCTACA	0.617																																					p.I84M												.	.	0			c.C252G	16						.						75.0	61.0	66.0					16																	2569391		2198	4300	6498	2509392	SO:0001583	missense	527	exon2			M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.252C>G	16.37:g.2569391C>G	ENSP00000329757:p.Ile84Met		2509392	NM_001694	Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	C	5.089	0.202057	0.09652	.	.	ENSG00000185883	ENST00000330398	.	.	.	4.72	3.77	0.43336	ATPase, F0/V0 complex, subunit C (2);	0.058457	0.64402	D	0.000002	T	0.37652	0.1011	N	0.11201	0.11	0.47778	D	0.999517	B	0.09022	0.002	B	0.12156	0.007	T	0.16778	-1.0391	9	0.48119	T	0.1	-0.0033	11.6199	0.51111	0.0:0.9123:0.0:0.0876	.	84	P27449	VATL_HUMAN	M	84	.	ENSP00000329757:I84M	I	+	3	3	ATP6V0C	2509392	0.938000	0.31826	0.643000	0.29450	0.026000	0.11368	1.816000	0.38992	1.000000	0.39049	0.456000	0.33151	ATC		0.617	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694	
TNRC6A	27327	broad.mit.edu	37	16	24804897	24804897	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:24804897A>C	ENST00000395799.3	+	7	3408	c.3279A>C	c.(3277-3279)gaA>gaC	p.E1093D	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1093D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1093	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				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.E1093D(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)		GCTGGGGGGAACCCATTGCTG	0.557																																					p.E1093D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3279C	16						.						96.0	97.0	97.0					16																	24804897		2197	4300	6497	24712398	SO:0001583	missense	27327	exon7			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.3279A>C	16.37:g.24804897A>C	ENSP00000379144:p.Glu1093Asp		24712398	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622290	0.46840	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.44881	0.91;0.91	6.06	-1.96	0.07525	Argonaute hook domain (1);	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	L	0.28556	0.865	0.80722	D	1	B;D	0.53745	0.146;0.962	B;P	0.53450	0.273;0.726	T	0.34775	-0.9815	10	0.13108	T	0.6	-7.8493	5.7588	0.18188	0.3162:0.108:0.4708:0.105	.	840;1093	Q8NDV7-2;Q8NDV7	.;TNR6A_HUMAN	D	1093	ENSP00000326900:E1093D;ENSP00000379144:E1093D	ENSP00000326900:E1093D	E	+	3	2	TNRC6A	24712398	0.380000	0.25131	0.968000	0.41197	0.997000	0.91878	-0.208000	0.09371	-0.675000	0.05246	0.528000	0.53228	GAA		0.557	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
ZKSCAN2	342357	broad.mit.edu	37	16	25251245	25251245	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:25251245T>G	ENST00000328086.7	-	7	3599	c.2796A>C	c.(2794-2796)aaA>aaC	p.K932N	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	932					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K932N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTTCCCGATGTTTGGTAAGAA	0.458																																					p.K932N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2796C	16						.						115.0	103.0	107.0					16																	25251245		2197	4300	6497	25158746	SO:0001583	missense	342357	exon7			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2796A>C	16.37:g.25251245T>G	ENSP00000331626:p.Lys932Asn		25158746	NM_001012981	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287865	0.59976	.	.	ENSG00000155592	ENST00000328086	T	0.60797	0.16	5.3	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.192651	0.37348	N	0.002121	T	0.40272	0.1110	L	0.36672	1.1	0.35831	D	0.825289	B;P	0.39665	0.361;0.682	B;B	0.35550	0.157;0.205	T	0.39292	-0.9621	10	0.40728	T	0.16	-21.5271	6.9167	0.24363	0.0:0.2654:0.0:0.7346	.	728;932	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	N	932	ENSP00000331626:K932N	ENSP00000331626:K932N	K	-	3	2	ZKSCAN2	25158746	0.000000	0.05858	0.965000	0.40720	0.966000	0.64601	-0.679000	0.05203	0.130000	0.18549	-0.371000	0.07208	AAA		0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
SRRM2	23524	broad.mit.edu	37	16	2815678	2815678	+	Missense_Mutation	SNP	C	C	T	rs146687503		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:2815678C>T	ENST00000301740.8	+	11	5698	c.5149C>T	c.(5149-5151)Cgc>Tgc	p.R1717C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1717	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R1717C(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCAGAAACTCGCTCTAGAAC	0.592																																					p.R1717C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5149T	16						.	C	CYS/ARG	0,4396		0,0,2198	56.0	54.0	55.0		5149	5.5	1.0	16	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM2	NM_016333.3	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1717/2753	2815678	1,12995	2198	4300	6498	2755679	SO:0001583	missense	23524	exon11			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5149C>T	16.37:g.2815678C>T	ENSP00000301740:p.Arg1717Cys		2755679	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226388	0.22542	0.0	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.30448	1.53	5.47	5.47	0.80525	.	0.097978	0.46145	D	0.000314	T	0.29190	0.0726	N	0.08118	0	0.40552	D	0.981129	D	0.76494	0.999	P	0.57846	0.828	T	0.23226	-1.0194	10	0.72032	D	0.01	-8.2232	11.8538	0.52425	0.1747:0.8253:0.0:0.0	.	1717	Q9UQ35	SRRM2_HUMAN	C	1717;1717;969	ENSP00000301740:R1717C	ENSP00000301740:R1717C	R	+	1	0	SRRM2	2755679	0.686000	0.27661	0.953000	0.39169	0.933000	0.57130	1.557000	0.36299	2.566000	0.86566	0.655000	0.94253	CGC		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
IL21R	50615	broad.mit.edu	37	16	27460337	27460337	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:27460337G>C	ENST00000337929.3	+	9	1823	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.K450N|IL21R_ENST00000395755.1_Missense_Mutation_p.K450N|IL21R_ENST00000564089.1_Missense_Mutation_p.K450N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	450					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.K450N(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACAGACTAAAGCCACCCCTTG	0.672			T	BCL6	NHL																																p.K472N			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1416C	16						.						29.0	35.0	33.0					16																	27460337		2197	4300	6497	27367838	SO:0001583	missense	50615	exon10			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1350G>C	16.37:g.27460337G>C	ENSP00000338010:p.Lys450Asn		27367838	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715833	0.15306	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.35048	1.33;1.33;1.33	4.9	0.574	0.17368	.	6.957870	0.00166	N	0.000017	T	0.29882	0.0747	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.11641	-1.0579	10	0.42905	T	0.14	-3.7405	1.8465	0.03161	0.1083:0.3343:0.2935:0.2639	.	450	Q9HBE5	IL21R_HUMAN	N	450	ENSP00000338010:K450N;ENSP00000379104:K450N;ENSP00000379103:K450N	ENSP00000338010:K450N	K	+	3	2	IL21R	27367838	0.008000	0.16893	0.001000	0.08648	0.032000	0.12392	0.020000	0.13466	-0.184000	0.10567	0.561000	0.74099	AAG		0.672	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
KIAA0556	23247	broad.mit.edu	37	16	27761165	27761165	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:27761165G>A	ENST00000261588.4	+	16	2903	c.2884G>A	c.(2884-2886)Gct>Act	p.A962T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	962						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A962T(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGACAGACGCTGGGGGTGA	0.592																																					p.A962T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2884A	16						.						39.0	40.0	40.0					16																	27761165		2197	4300	6497	27668666	SO:0001583	missense	23247	exon16			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2884G>A	16.37:g.27761165G>A	ENSP00000261588:p.Ala962Thr		27668666	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789249	0.16258	.	.	ENSG00000047578	ENST00000261588	T	0.09911	2.93	4.98	1.9	0.25705	.	0.885835	0.09774	N	0.757574	T	0.06554	0.0168	N	0.19112	0.55	0.09310	N	1	B	0.24963	0.115	B	0.20384	0.029	T	0.45629	-0.9248	10	0.15066	T	0.55	-13.0612	7.9375	0.29939	0.1485:0.1328:0.7187:0.0	.	962	O60303	K0556_HUMAN	T	962	ENSP00000261588:A962T	ENSP00000261588:A962T	A	+	1	0	KIAA0556	27668666	0.122000	0.22280	0.000000	0.03702	0.000000	0.00434	2.871000	0.48459	0.223000	0.20920	-0.175000	0.13238	GCT		0.592	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
CCDC101	112869	broad.mit.edu	37	16	28601970	28601970	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:28601970C>T	ENST00000317058.3	+	8	772	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	195	Histone H3K4me3 N-terminus binding.|SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)	p.I195I(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TAGATGACATCGATGAAGAAG	0.597																																					p.I195I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C585T	16						.						208.0	188.0	195.0					16																	28601970		2197	4300	6497	28509471	SO:0001819	synonymous_variant	112869	exon8			AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.585C>T	16.37:g.28601970C>T			28509471	NM_138414	Q96MF5	Silent	SNP	ENST00000317058.3	37	CCDS10635.1																																																																																				0.597	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414	
SEZ6L2	26470	broad.mit.edu	37	16	29888257	29888257	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:29888257C>T	ENST00000308713.5	-	12	2451	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D598N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D572N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D528N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	642	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.D642N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCACGTGTCGTTCCTCGGG	0.672																																					p.D528N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	16						.						30.0	31.0	31.0					16																	29888257		2197	4300	6497	29795758	SO:0001583	missense	26470	exon10			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1924G>A	16.37:g.29888257C>T	ENSP00000312550:p.Asp642Asn		29795758	NM_001114100	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	37	6.312313	0.97467	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.37411	1.47;1.2;1.43;1.42	5.57	5.57	0.84162	Complement control module (1);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000019	T	0.59569	0.2203	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.971;0.998;0.993;0.999	T	0.54364	-0.8305	10	0.34782	T	0.22	.	18.3115	0.90201	0.0:1.0:0.0:0.0	.	598;642;528;572;642;572	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	572;642;528;598	ENSP00000310206:D572N;ENSP00000312550:D642N;ENSP00000319215:D528N;ENSP00000439412:D598N	ENSP00000312550:D642N	D	-	1	0	SEZ6L2	29795758	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.618000	0.88619	0.655000	0.94253	GAC		0.672	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
SEZ6L2	26470	broad.mit.edu	37	16	29888697	29888697	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:29888697G>A	ENST00000308713.5	-	11	2331	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R558C|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R532C|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R488C	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	602	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.R602C(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGCGGCGGCGCGGCTGAGGT	0.677																																					p.R488C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1462T	16						.						16.0	19.0	18.0					16																	29888697		2191	4291	6482	29796198	SO:0001583	missense	26470	exon9			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1804C>T	16.37:g.29888697G>A	ENSP00000312550:p.Arg602Cys		29796198	NM_001114100	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683381	0.88542	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.57	5.57	0.84162	CUB (5);	0.000000	0.56097	D	0.000031	T	0.54224	0.1845	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.999;0.997;0.998;0.998;0.999	T	0.53697	-0.8402	10	0.66056	D	0.02	.	18.3115	0.90201	0.0:0.0:1.0:0.0	.	558;602;488;532;602;532	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	C	532;602;488;558	ENSP00000310206:R532C;ENSP00000312550:R602C;ENSP00000319215:R488C;ENSP00000439412:R558C	ENSP00000312550:R602C	R	-	1	0	SEZ6L2	29796198	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.941000	0.56607	2.618000	0.88619	0.655000	0.94253	CGC		0.677	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
SETD1A	9739	broad.mit.edu	37	16	30976030	30976030	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:30976030G>A	ENST00000262519.8	+	7	1653	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	323	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A323T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCCACAACCGCCTCCACGGC	0.612																																					p.A323T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G967A	16						.						151.0	115.0	127.0					16																	30976030		2197	4300	6497	30883531	SO:0001583	missense	9739	exon7			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.967G>A	16.37:g.30976030G>A	ENSP00000262519:p.Ala323Thr		30883531	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	6.968	0.548485	0.13312	.	.	ENSG00000099381	ENST00000262519	D	0.94000	-3.33	5.63	0.861	0.19048	.	0.777000	0.11916	N	0.517217	T	0.79730	0.4496	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66634	-0.5874	10	0.02654	T	1	.	4.7633	0.13118	0.5469:0.0:0.3047:0.1484	.	323	O15047	SET1A_HUMAN	T	323	ENSP00000262519:A323T	ENSP00000262519:A323T	A	+	1	0	SETD1A	30883531	0.654000	0.27367	0.880000	0.34516	0.625000	0.37756	0.415000	0.21181	0.176000	0.19873	-0.266000	0.10368	GCC		0.612	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
ITGAM	3684	broad.mit.edu	37	16	31273096	31273096	+	Missense_Mutation	SNP	G	G	A	rs147195093	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:31273096G>A	ENST00000287497.8	+	2	187	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ITGAM_ENST00000544665.3_Missense_Mutation_p.V38M			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	38					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.V38M(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGGCAGAGCGTGGTCCAGCT	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		16575	0.0		0.002	False		,,,				2504	0.0				p.V38M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	16						.	G	MET/VAL,MET/VAL	0,3890		0,0,1945	55.0	52.0	53.0		112,112	3.9	0.8	16	dbSNP_134	53	1,8251		0,1,4125	yes	missense,missense	ITGAM	NM_000632.3,NM_001145808.1	21,21	0,1,6070	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging	38/1153,38/1154	31273096	1,12141	1945	4126	6071	31180597	SO:0001583	missense	3684	exon2			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.112G>A	16.37:g.31273096G>A	ENSP00000287497:p.Val38Met		31180597	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.87	2.662990	0.47572	0.0	1.21E-4	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.74421	-0.84;-0.84	4.92	3.93	0.45458	.	.	.	.	.	D	0.86834	0.6028	M	0.88640	2.97	0.32221	N	0.575186	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88263	0.2924	9	0.87932	D	0	.	10.2659	0.43455	0.0:0.0:0.802:0.198	.	38;38	Q4VAK1;P11215	.;ITAM_HUMAN	M	38	ENSP00000441691:V38M;ENSP00000287497:V38M	ENSP00000287497:V38M	V	+	1	0	ITGAM	31180597	0.992000	0.36948	0.812000	0.32479	0.305000	0.27757	2.341000	0.43983	1.009000	0.39289	0.650000	0.86243	GTG		0.502	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ZSCAN32	54925	broad.mit.edu	37	16	3434774	3434774	+	Missense_Mutation	SNP	G	G	A	rs200152894		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:3434774G>A	ENST00000396852.4	-	6	1226	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R307C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R18C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R307C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R95C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R18C|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R95C	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	307					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)	p.R95C(2)									AACTTGGTGCGACACTGTTCT	0.512																																					p.R95C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C283T	16						.						164.0	170.0	168.0					16																	3434774		2197	4300	6497	3374775	SO:0001583	missense	54925	exon5			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.919C>T	16.37:g.3434774G>A	ENSP00000380061:p.Arg307Cys		3374775	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	G	17.88	3.498206	0.64186	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	3.24	-1.39	0.08997	.	0.920459	0.08730	N	0.902189	T	0.71896	0.3394	M	0.93898	3.47	0.09310	N	1	D;B;B	0.89917	1.0;0.018;0.004	D;B;B	0.83275	0.996;0.006;0.006	T	0.58787	-0.7575	10	0.72032	D	0.01	.	6.9136	0.24347	0.5044:0.0:0.4956:0.0	.	95;95;307	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	C	95;307;307;18;95	ENSP00000302502:R95C;ENSP00000380061:R307C;ENSP00000380057:R307C;ENSP00000391787:R18C;ENSP00000407312:R95C	ENSP00000302502:R95C	R	-	1	0	ZNF434	3374775	0.000000	0.05858	0.001000	0.08648	0.626000	0.37791	-0.135000	0.10420	-0.223000	0.09943	0.655000	0.94253	CGC		0.512	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810	
ZSCAN32	54925	broad.mit.edu	37	16	3440089	3440089	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:3440089T>A	ENST00000396852.4	-	5	979	c.672A>T	c.(670-672)caA>caT	p.Q224H	ZSCAN32_ENST00000396846.3_Missense_Mutation_p.Q224H|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.Q224H|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.Q12H|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.Q12H	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	224	KRAB.				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)	p.Q12H(1)									ACATCCATTCTTGCTGACAGA	0.572																																					p.Q12H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A36T	16						.						82.0	59.0	67.0					16																	3440089		2197	4300	6497	3380090	SO:0001583	missense	54925	exon4			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.672A>T	16.37:g.3440089T>A	ENSP00000380061:p.Gln224His		3380090	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	T	5.789	0.329849	0.10956	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000418960;ENST00000422427	T;T;T;T	0.00840	5.63;5.63;5.63;5.63	3.13	2.02	0.26589	.	.	.	.	.	T	0.01124	0.0037	L	0.52011	1.625	0.21740	N	0.999565	P;B;B;B	0.39831	0.69;0.438;0.438;0.438	B;B;B;B	0.36534	0.227;0.201;0.201;0.201	T	0.49725	-0.8909	9	0.72032	D	0.01	.	4.8489	0.13528	0.0:0.2826:0.0:0.7174	.	12;223;12;224	B4DR24;Q9BU74;Q9NX65;Q6WMU8	.;.;ZN434_HUMAN;.	H	12;224;224;223;12	ENSP00000302502:Q12H;ENSP00000380061:Q224H;ENSP00000380057:Q224H;ENSP00000407312:Q12H	ENSP00000302502:Q12H	Q	-	3	2	ZNF434	3380090	0.010000	0.17322	0.074000	0.20217	0.539000	0.34962	0.788000	0.26872	0.157000	0.19338	0.383000	0.25322	CAA		0.572	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810	
CLUAP1	23059	broad.mit.edu	37	16	3586166	3586166	+	Silent	SNP	C	C	T	rs377189683		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:3586166C>T	ENST00000576634.1	+	12	1281	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	CLUAP1_ENST00000571025.1_3'UTR|CLUAP1_ENST00000341633.5_Silent_p.D398D|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|CLUAP1_ENST00000445795.2_Silent_p.D157D|CLUAP1_ENST00000572600.1_Silent_p.D213D|CLUAP1_ENST00000417763.2_Silent_p.D213D|NLRC3_ENST00000301749.7_RNA	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	379	Asp-rich.				cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.D379D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATGATGATGACGAGGATGACG	0.483																																					p.D213D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	16						.						125.0	111.0	116.0					16																	3586166		2197	4300	6497	3526167	SO:0001819	synonymous_variant	23059	exon8			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.1137C>T	16.37:g.3586166C>T			3526167	NM_024793	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	CCDS32381.1																																																																																				0.483	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
CREBBP	1387	broad.mit.edu	37	16	3820935	3820935	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:3820935T>C	ENST00000262367.5	-	14	3325	c.2516A>G	c.(2515-2517)cAg>cGg	p.Q839R	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q801R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	839					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.Q839R(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)		CTGGCTGGCCTGAGGCCCCAG	0.567			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.Q839R			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2516G	16						.						93.0	97.0	95.0					16																	3820935		2197	4300	6497	3760936	SO:0001583	missense	1387	exon14			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.2516A>G	16.37:g.3820935T>C	ENSP00000262367:p.Gln839Arg		3760936	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708981	0.48517	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84223	-1.82;-1.74	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000003	D	0.85004	0.5598	L	0.46157	1.445	0.38709	D	0.953189	P;P	0.51537	0.937;0.946	P;B	0.51487	0.671;0.418	D	0.85455	0.1163	10	0.37606	T	0.19	-13.6561	12.3568	0.55180	0.0:0.0:0.1406:0.8594	.	869;839	Q4LE28;Q92793	.;CBP_HUMAN	R	839;869;801	ENSP00000262367:Q839R;ENSP00000371502:Q801R	ENSP00000262367:Q839R	Q	-	2	0	CREBBP	3760936	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.154000	0.50693	2.201000	0.70794	0.533000	0.62120	CAG		0.567	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ZNF267	10308	broad.mit.edu	37	16	31895899	31895899	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:31895899G>A	ENST00000300870.10	+	2	293	c.84G>A	c.(82-84)ttG>ttA	p.L28L	ZNF267_ENST00000394846.3_Silent_p.L28L	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|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.L28L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAGAATTTGTATCAGGATG	0.388																																					p.L28L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G84A	16						.						98.0	103.0	102.0					16																	31895899		2197	4300	6497	31803400	SO:0001819	synonymous_variant	10308	exon2			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.84G>A	16.37:g.31895899G>A			31803400	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	ENST00000300870.10	37	CCDS32440.1																																																																																				0.388	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
GPT2	84706	broad.mit.edu	37	16	46956237	46956237	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:46956237G>A	ENST00000340124.4	+	9	1233	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	GPT2_ENST00000440783.2_Missense_Mutation_p.R274H	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	374					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.R374H(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CTGTCGGTGCGCCTGTGCCCC	0.607																																					p.R274H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821A	16						.						88.0	75.0	79.0					16																	46956237		2203	4300	6503	45513738	SO:0001583	missense	84706	exon9				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1121G>A	16.37:g.46956237G>A	ENSP00000345282:p.Arg374His		45513738	NM_001142466	Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592602	0.66219	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;D	0.90444	-2.67;-2.67	5.07	5.07	0.68467	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.91612	3.225	0.80722	D	1	P	0.42375	0.778	B	0.26094	0.066	D	0.92566	0.6062	10	0.48119	T	0.1	.	18.7928	0.91982	0.0:0.0:1.0:0.0	.	374	Q8TD30	ALAT2_HUMAN	H	374;274	ENSP00000345282:R374H;ENSP00000413804:R274H	ENSP00000345282:R374H	R	+	2	0	GPT2	45513738	1.000000	0.71417	0.313000	0.25210	0.559000	0.35586	9.697000	0.98697	2.525000	0.85131	0.462000	0.41574	CGC		0.607	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2		
NETO2	81831	broad.mit.edu	37	16	47162395	47162395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:47162395G>A	ENST00000562435.1	-	4	706	c.322C>T	c.(322-324)Cga>Tga	p.R108*	NETO2_ENST00000303155.5_Nonsense_Mutation_p.R108*	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	108	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.R108*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GGCCCATCTCGAACTTCCAAG	0.388										HNSCC(25;0.065)																											p.R108X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C322T	16						.						164.0	165.0	165.0					16																	47162395		2202	4300	6502	45719896	SO:0001587	stop_gained	81831	exon4			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.322C>T	16.37:g.47162395G>A	ENSP00000455169:p.Arg108*		45719896	NM_018092	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Nonsense_Mutation	SNP	ENST00000562435.1	37	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	G	42	9.492837	0.99186	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000306726:R108X	R	-	1	2	NETO2	45719896	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.391000	0.73208	2.703000	0.92315	0.655000	0.94253	CGA		0.388	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	
ABCC12	94160	broad.mit.edu	37	16	48177876	48177876	+	Missense_Mutation	SNP	C	C	T	rs112372255	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:48177876C>T	ENST00000311303.3	-	2	565	c.220G>A	c.(220-222)Gta>Ata	p.V74I	ABCC12_ENST00000416054.1_Missense_Mutation_p.V74I|ABCC12_ENST00000448542.1_Missense_Mutation_p.V74I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	74						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V74I(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGGTGTCTACGGTCAGCCTT	0.527													C|||	35	0.00698882	0.0219	0.0072	5008	,	,		19630	0.001		0.0	False		,,,				2504	0.0				p.V74I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	16						.	C	ILE/VAL	49,4353	52.3+/-87.9	0,49,2152	121.0	100.0	107.0		220	5.1	1.0	16	dbSNP_132	107	0,8600		0,0,4300	yes	missense	ABCC12	NM_033226.2	29	0,49,6452	TT,TC,CC		0.0,1.1131,0.3769	benign	74/1360	48177876	49,12953	2201	4300	6501	46735377	SO:0001583	missense	94160	exon2			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.220G>A	16.37:g.48177876C>T	ENSP00000311030:p.Val74Ile		46735377	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	7	0.003205128205128205	4	0.008130081300813009	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	C	6.309	0.425075	0.11987	0.011131	0.0	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	6.17	5.05	0.67936	.	0.922997	0.09295	N	0.821762	T	0.75781	0.3896	L	0.33485	1.01	0.09310	N	1	B;B	0.20459	0.045;0.01	B;B	0.14023	0.01;0.004	T	0.63756	-0.6565	10	0.34782	T	0.22	.	10.0422	0.42164	0.142:0.7777:0.0:0.0803	.	74;74	Q96J65-2;Q96J65	.;MRP9_HUMAN	I	74	ENSP00000311030:V74I;ENSP00000401855:V74I;ENSP00000413046:V74I;ENSP00000436647:V74I	ENSP00000311030:V74I	V	-	1	0	ABCC12	46735377	0.106000	0.21978	0.991000	0.47740	0.343000	0.28985	1.232000	0.32636	2.941000	0.99782	0.655000	0.94253	GTA		0.527	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC11	85320	broad.mit.edu	37	16	48234302	48234302	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:48234302A>C	ENST00000394747.1	-	14	2316	c.1967T>G	c.(1966-1968)cTg>cGg	p.L656R	ABCC11_ENST00000394748.1_Missense_Mutation_p.L656R|ABCC11_ENST00000537808.1_Missense_Mutation_p.L656R|ABCC11_ENST00000353782.5_Missense_Mutation_p.L656R|ABCC11_ENST00000356608.2_Missense_Mutation_p.L656R	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	656	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.L656R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTCGTCCAGCAGGTAGATCTG	0.607																																					p.L656R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1967G	16						.						86.0	71.0	76.0					16																	48234302		2201	4300	6501	46791803	SO:0001583	missense	85320	exon15			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1967T>G	16.37:g.48234302A>C	ENSP00000378230:p.Leu656Arg		46791803	NM_145186	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506485	0.85282	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.7	5.7	0.88788	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.077250	0.52532	D	0.000079	D	0.95758	0.8620	H	0.99225	4.475	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97352	0.9964	10	0.87932	D	0	-12.0427	13.9219	0.63937	1.0:0.0:0.0:0.0	.	656;656	Q96J66-2;Q96J66	.;ABCCB_HUMAN	R	656	ENSP00000311326:L656R;ENSP00000349017:L656R;ENSP00000378231:L656R;ENSP00000378230:L656R;ENSP00000438530:L656R	ENSP00000311326:L656R	L	-	2	0	ABCC11	46791803	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	8.828000	0.92047	2.183000	0.69458	0.533000	0.62120	CTG		0.607	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
ABCC11	85320	broad.mit.edu	37	16	48249194	48249194	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:48249194C>T	ENST00000394747.1	-	7	1362	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	ABCC11_ENST00000394748.1_Missense_Mutation_p.R338H|ABCC11_ENST00000537808.1_Missense_Mutation_p.R338H|ABCC11_ENST00000353782.5_Missense_Mutation_p.R338H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R338H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	338	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.R338H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACACGGATGCGCTGGTCGCT	0.443																																					p.R338H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1013A	16						.						134.0	126.0	129.0					16																	48249194		2201	4300	6501	46806695	SO:0001583	missense	85320	exon8			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1013G>A	16.37:g.48249194C>T	ENSP00000378230:p.Arg338His		46806695	NM_145186	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417404	0.83449	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.23	4.28	0.50868	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94902	0.8352	M	0.83774	2.66	0.49915	D	0.99983	P;D	0.89917	0.552;1.0	B;D	0.97110	0.104;1.0	D	0.94934	0.8085	10	0.87932	D	0	-16.9396	11.3027	0.49316	0.0:0.913:0.0:0.087	.	338;338	Q96J66-2;Q96J66	.;ABCCB_HUMAN	H	338	ENSP00000311326:R338H;ENSP00000349017:R338H;ENSP00000378231:R338H;ENSP00000378230:R338H;ENSP00000438530:R338H	ENSP00000311326:R338H	R	-	2	0	ABCC11	46806695	0.990000	0.36364	0.982000	0.44146	0.890000	0.51754	2.681000	0.46926	1.208000	0.43306	0.650000	0.86243	CGC		0.443	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
PAPD5	64282	broad.mit.edu	37	16	50245292	50245292	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:50245292A>G	ENST00000561678.1	+	2	525	c.451A>G	c.(451-453)Aag>Gag	p.K151E	PAPD5_ENST00000357464.3_Missense_Mutation_p.K139E|PAPD5_ENST00000436909.3_Missense_Mutation_p.K218E			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	139					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.K218E(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TGAGGAGGAGAAGATGCGGAT	0.458																																					p.K218E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A652G	16						.						108.0	110.0	110.0					16																	50245292		2017	4178	6195	48802793	SO:0001583	missense	64282	exon3			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.451A>G	16.37:g.50245292A>G	ENSP00000455837:p.Lys151Glu		48802793	NM_001040284	B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	A	10.83	1.461374	0.26248	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.44482	0.94;0.92	5.59	5.59	0.84812	.	0.090297	0.85682	D	0.000000	T	0.25082	0.0609	N	0.14661	0.345	0.43798	D	0.996348	B;B	0.16396	0.017;0.006	B;B	0.17098	0.017;0.01	T	0.11275	-1.0594	10	0.13470	T	0.59	.	12.0329	0.53408	0.8559:0.1441:0.0:0.0	.	218;139	B4DV38;Q8NDF8	.;PAPD5_HUMAN	E	218;139	ENSP00000396995:K218E;ENSP00000350054:K139E	ENSP00000350054:K139E	K	+	1	0	PAPD5	48802793	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.528000	0.60580	2.122000	0.65172	0.533000	0.62120	AAG		0.458	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447	
SALL1	6299	broad.mit.edu	37	16	51175650	51175650	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:51175650G>A	ENST00000251020.4	-	2	516	c.483C>T	c.(481-483)ggC>ggT	p.G161G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.G64G|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	161	Poly-Gly.				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.G161G(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)			Agctgccgccgccgccgctgc	0.627																																					p.G161G	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C483T	16						.						27.0	27.0	27.0					16																	51175650		2198	4300	6498	49733151	SO:0001819	synonymous_variant	6299	exon2			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.483C>T	16.37:g.51175650G>A			49733151	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.627	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
MT1M	4499	broad.mit.edu	37	16	56667676	56667676	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:56667676C>T	ENST00000379818.3	+	3	607	c.108C>T	c.(106-108)tgC>tgT	p.C36C	MT1JP_ENST00000564564.1_RNA|AC026461.1_ENST00000600389.1_5'Flank	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	36	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.C36C(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						GCTGCTCCTGCTGCCCCGTGG	0.622																																					p.C36C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	16						.						129.0	133.0	132.0					16																	56667676		2198	4300	6498	55225177	SO:0001819	synonymous_variant	4499	exon3			AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"""Metallothioneins"""	14296	protein-coding gene	gene with protein product		156357	"""metallothionein 1K"""	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.108C>T	16.37:g.56667676C>T			55225177	NM_176870	Q8TDN3	Silent	SNP	ENST00000379818.3	37	CCDS42166.1																																																																																				0.622	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	NM_176870	
NLRC5	84166	broad.mit.edu	37	16	57067561	57067561	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:57067561G>A	ENST00000262510.6	+	12	2748	c.2523G>A	c.(2521-2523)caG>caA	p.Q841Q	NLRC5_ENST00000436936.1_Silent_p.Q841Q|NLRC5_ENST00000308149.7_Silent_p.Q841Q|NLRC5_ENST00000539144.1_Silent_p.Q841Q	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.Q841Q(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAGGGGCTCAGAGCAGAAGCT	0.572																																					p.Q841Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2523A	16						.						103.0	94.0	97.0					16																	57067561		2198	4300	6498	55625062	SO:0001819	synonymous_variant	84166	exon12			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2523G>A	16.37:g.57067561G>A			55625062	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.189996	0.01607	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.22	1.07	0.20283	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	.	2.7837	0.05368	0.1014:0.1827:0.5271:0.1887	.	.	.	.	K	594	.	.	E	+	1	0	NLRC5	55625062	0.021000	0.18746	0.002000	0.10522	0.163000	0.22366	2.317000	0.43770	0.290000	0.22444	0.650000	0.86243	GAG		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
FAM192A	80011	broad.mit.edu	37	16	57188330	57188330	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:57188330G>A	ENST00000309137.8	-	7	895	c.637C>T	c.(637-639)Cca>Tca	p.P213S	FAM192A_ENST00000569266.1_Missense_Mutation_p.P213S|FAM192A_ENST00000564108.1_Missense_Mutation_p.P213S|FAM192A_ENST00000566077.1_Missense_Mutation_p.P136S|FAM192A_ENST00000567439.1_Missense_Mutation_p.P213S|FAM192A_ENST00000389447.5_Missense_Mutation_p.P213S	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	213						nucleus (GO:0005634)		p.P213S(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CCCAGGCCTGGGAGGATGCCG	0.582																																					p.P213S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C637T	16						.						42.0	49.0	47.0					16																	57188330		2017	4186	6203	55745831	SO:0001583	missense	80011	exon7				CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.637C>T	16.37:g.57188330G>A	ENSP00000335808:p.Pro213Ser		55745831	NM_024946		Missense_Mutation	SNP	ENST00000309137.8	37	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945983	0.92593	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.25	5.25	0.73442	.	0.152172	0.64402	D	0.000010	T	0.74458	0.3719	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.73414	-0.3990	9	0.46703	T	0.11	-8.5113	19.0487	0.93032	0.0:0.0:1.0:0.0	.	213	Q9GZU8	F192A_HUMAN	S	213	.	ENSP00000335808:P213S	P	-	1	0	FAM192A	55745831	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	8.197000	0.89727	2.724000	0.93272	0.563000	0.77884	CCA		0.582	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946	
RSPRY1	89970	broad.mit.edu	37	16	57264687	57264687	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:57264687C>T	ENST00000537866.1	+	12	2211	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Silent_p.N446N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.N446N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAAATGGCAACCAGCTGCCTC	0.378																																					p.N446N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1338T	16						.						87.0	82.0	84.0					16																	57264687		2198	4300	6498	55822188	SO:0001819	synonymous_variant	89970	exon12			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1338C>T	16.37:g.57264687C>T			55822188	NM_133368	Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	CCDS10775.1																																																																																				0.378	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368	
SLC9A5	6553	broad.mit.edu	37	16	67288933	67288933	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:67288933T>C	ENST00000299798.11	+	3	565	c.500T>C	c.(499-501)gTg>gCg	p.V167A	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	167					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.V167A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCCCCTAGGGTGCAGGCTGGC	0.607																																					p.V167A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T500C	16						.						70.0	76.0	74.0					16																	67288933		2099	4250	6349	65846434	SO:0001583	missense	6553	exon3				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.500T>C	16.37:g.67288933T>C	ENSP00000299798:p.Val167Ala		65846434	NM_004594	A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.260936	0.59431	.	.	ENSG00000135740	ENST00000299798	T	0.15372	2.43	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.36672	1.1	0.51012	D	0.999907	P	0.40282	0.711	P	0.45232	0.474	T	0.02047	-1.1223	10	0.27082	T	0.32	.	15.5609	0.76244	0.0:0.0:0.0:1.0	.	167	Q14940	SL9A5_HUMAN	A	167	ENSP00000299798:V167A	ENSP00000299798:V167A	V	+	2	0	SLC9A5	65846434	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.607000	0.82883	2.271000	0.75665	0.533000	0.62120	GTG		0.607	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1		
FAM65A	79567	broad.mit.edu	37	16	67576329	67576329	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:67576329C>A	ENST00000379312.3	+	13	1773	c.1652C>A	c.(1651-1653)aCc>aAc	p.T551N	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.T547N|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.T567N|FAM65A_ENST00000422602.2_Missense_Mutation_p.T567N|FAM65A_ENST00000428437.2_Missense_Mutation_p.T561N	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	551	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.T547N(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCACTCACACCACTACAGGC	0.547																																					p.T551N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1652A	16						.						421.0	395.0	404.0					16																	67576329		2198	4300	6498	66133830	SO:0001583	missense	79567	exon13			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1652C>A	16.37:g.67576329C>A	ENSP00000368614:p.Thr551Asn		66133830	NM_001193522	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.96|10.96	1.498297|1.498297	0.26861|0.26861	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.15139	.|2.46;2.45;2.45	4.38|4.38	1.01|1.01	0.19927|0.19927	.|.	.|0.792155	.|0.11053	.|N	.|0.604843	T|T	0.07413|0.07413	0.0187|0.0187	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.09022	.|0.001;0.001;0.001;0.002	.|B;B;B;B	.|0.08055	.|0.002;0.002;0.002;0.003	T|T	0.43180|0.43180	-0.9407|-0.9407	6|10	0.10902|0.10636	T|T	0.67|0.68	-9.1731|-9.1731	8.3511|8.3511	0.32303|0.32303	0.3112:0.5379:0.1509:0.0|0.3112:0.5379:0.1509:0.0	.|.	.|561;567;551;567	.|B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.|.;.;FA65A_HUMAN;.	Q|N	541|551;547;567;561	.|ENSP00000368614:T551N;ENSP00000042381:T547N;ENSP00000400099:T567N	ENSP00000389456:H541Q|ENSP00000042381:T547N	H|T	+|+	3|2	2|0	FAM65A|FAM65A	66133830|66133830	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.121000|0.121000	0.20230|0.20230	0.122000|0.122000	0.15687|0.15687	0.127000|0.127000	0.18452|0.18452	-0.335000|-0.335000	0.08231|0.08231	CAC|ACC		0.547	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
ENKD1	84080	broad.mit.edu	37	16	67699058	67699058	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:67699058C>A	ENST00000243878.4	-	3	615	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ENKD1_ENST00000602644.1_Missense_Mutation_p.K98N|ENKD1_ENST00000602409.1_5'UTR|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	98						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)		p.K98N(1)									TCTCATGGTCCTTAGGGTCCT	0.607																																					p.K98N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G294T	16						.						144.0	156.0	152.0					16																	67699058		2198	4300	6498	66256559	SO:0001583	missense	84080	exon3			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.294G>T	16.37:g.67699058C>A	ENSP00000243878:p.Lys98Asn		66256559	NM_032140	Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	c	17.70	3.454363	0.63290	.	.	ENSG00000124074	ENST00000243878	.	.	.	5.6	-0.555	0.11807	.	0.196285	0.51477	D	0.000095	T	0.66076	0.2753	M	0.70275	2.135	0.43238	D	0.995144	D	0.69078	0.997	P	0.58520	0.84	T	0.67696	-0.5604	9	0.87932	D	0	-11.2496	10.8845	0.46960	0.0:0.5823:0.0:0.4177	.	98	Q9H0I2	CP048_HUMAN	N	98	.	ENSP00000243878:K98N	K	-	3	2	C16orf48	66256559	1.000000	0.71417	0.991000	0.47740	0.806000	0.45545	1.382000	0.34374	-0.146000	0.11274	-1.322000	0.01289	AAG		0.607	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140	
GFOD2	81577	broad.mit.edu	37	16	67709360	67709360	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:67709360C>A	ENST00000268797.7	-	3	1201	c.856G>T	c.(856-858)Gca>Tca	p.A286S	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	286					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.A286S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GCGCCCACTGCCAGCGAGTCC	0.652																																					p.A286S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G856T	16						.						42.0	40.0	41.0					16																	67709360		2198	4300	6498	66266861	SO:0001583	missense	81577	exon3			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.856G>T	16.37:g.67709360C>A	ENSP00000268797:p.Ala286Ser		66266861	NM_030819	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.973672	0.00452	.	.	ENSG00000141098	ENST00000268797	T	0.42131	0.98	5.28	-1.09	0.09904	.	0.464151	0.21674	N	0.070831	T	0.18718	0.0449	N	0.22421	0.69	0.09310	N	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.18272	-1.0342	10	0.08837	T	0.75	-10.6608	3.7342	0.08504	0.4067:0.3272:0.0:0.2661	.	286	Q3B7J2	GFOD2_HUMAN	S	286	ENSP00000268797:A286S	ENSP00000268797:A286S	A	-	1	0	GFOD2	66266861	0.281000	0.24258	0.093000	0.20910	0.037000	0.13140	-0.162000	0.10012	0.016000	0.14998	-1.136000	0.01936	GCA		0.652	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819	
SNTB2	6645	broad.mit.edu	37	16	69333663	69333663	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:69333663C>T	ENST00000336278.4	+	6	1554	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.P27S	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	506	SU.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)	p.P506S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		TTTTGGTGGTCCCGAGGGAGA	0.418																																					p.P506S	NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1516T	16						.						80.0	75.0	77.0					16																	69333663		2198	4300	6498	67891164	SO:0001583	missense	6645	exon6			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1516C>T	16.37:g.69333663C>T	ENSP00000338191:p.Pro506Ser		67891164	NM_006750	Q9BY09	Missense_Mutation	SNP	ENST00000336278.4	37	CCDS10873.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781915	0.70222	.	.	ENSG00000168807	ENST00000336278;ENST00000467311	D	0.84589	-1.87	5.5	5.5	0.81552	.	0.120608	0.56097	D	0.000027	D	0.86838	0.6029	L	0.61218	1.895	0.80722	D	1	D	0.55800	0.973	P	0.48400	0.576	D	0.84247	0.0475	10	0.24483	T	0.36	-10.1294	19.3677	0.94471	0.0:1.0:0.0:0.0	.	506	Q13425	SNTB2_HUMAN	S	506;157	ENSP00000338191:P506S	ENSP00000338191:P506S	P	+	1	0	SNTB2	67891164	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.529000	0.67135	2.758000	0.94735	0.563000	0.77884	CCC		0.418	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1		
DDX19A	55308	broad.mit.edu	37	16	70400583	70400583	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:70400583T>C	ENST00000302243.7	+	9	1002	c.839T>C	c.(838-840)gTg>gCg	p.V280A	DDX19A_ENST00000417604.2_Missense_Mutation_p.V249A|DDX19A_ENST00000443119.2_Missense_Mutation_p.V190A	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	280	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.V280A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GAAGACTCTGTGTGGAAGTTT	0.552																																					p.V280A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T839C	16						.						94.0	90.0	92.0					16																	70400583		2198	4300	6498	68958084	SO:0001583	missense	55308	exon9			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.839T>C	16.37:g.70400583T>C	ENSP00000306117:p.Val280Ala		68958084	NM_018332	B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	ENST00000302243.7	37	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650110	0.87958	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.18174	2.23;2.23;2.23	5.06	5.06	0.68205	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.85630	2.765	0.80722	D	1	D;P;D;D;P	0.76494	0.999;0.727;0.999;0.999;0.819	D;P;D;D;P	0.87578	0.991;0.651;0.995;0.998;0.683	T	0.45220	-0.9276	10	0.41790	T	0.15	.	12.7814	0.57479	0.0:0.0:0.0:1.0	.	190;249;115;280;281	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	A	280;172;249;190	ENSP00000306117:V280A;ENSP00000410243:V249A;ENSP00000399208:V190A	ENSP00000306209:V172A	V	+	2	0	DDX19A	68958084	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	7.559000	0.82265	1.894000	0.54839	0.459000	0.35465	GTG		0.552	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332	
HYDIN	54768	broad.mit.edu	37	16	71021962	71021962	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:71021962T>C	ENST00000393567.2	-	27	4209	c.4059A>G	c.(4057-4059)ggA>ggG	p.G1353G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1353					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.G1304G(1)|p.G1352G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTTAGCGTGTCCATAGAAGG	0.463																																					p.G1352G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A4056G	16						.						1.0	1.0	1.0					16																	71021962		2	2	4	69579463	SO:0001819	synonymous_variant	54768	exon27			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4059A>G	16.37:g.71021962T>C			69579463	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
CALB2	794	broad.mit.edu	37	16	71417928	71417928	+	Splice_Site	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:71417928G>T	ENST00000302628.4	+	7	610	c.533G>T	c.(532-534)cGa>cTa	p.R178L	CALB2_ENST00000349553.5_Splice_Site_p.R178L	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	178	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R178L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GAGATGTCCCGGTAAGCACCT	0.537																																					p.R178L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G533T	16						.						155.0	137.0	143.0					16																	71417928		2198	4300	6498	69975429	SO:0001630	splice_region_variant	794	exon7			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.533+1G>T	16.37:g.71417928G>T			69975429	NM_007088	A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	-	34	5.368064	0.95900	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.71461	-0.3;-0.57	5.52	5.52	0.82312	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.65677	2.01	0.80722	D	1	D;D	0.71674	0.998;0.989	D;P	0.71870	0.975;0.878	D	0.84504	0.0618	10	0.87932	D	0	-5.7224	18.2998	0.90160	0.0:0.0:1.0:0.0	.	178;178	A6NER6;P22676	.;CALB2_HUMAN	L	178	ENSP00000340294:R178L;ENSP00000307508:R178L	ENSP00000307508:R178L	R	+	2	0	CALB2	69975429	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.146000	0.89626	2.611000	0.88343	0.639000	0.83563	CGG;CGA		0.537	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	Missense_Mutation
PHLPP2	23035	broad.mit.edu	37	16	71682801	71682801	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:71682801C>A	ENST00000568954.1	-	19	4342	c.3964G>T	c.(3964-3966)Gca>Tca	p.A1322S	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A1322S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A1357S|PHLPP2_ENST00000393524.2_Missense_Mutation_p.A1255S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1322					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.A1322S(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGTCATAGTGCTGTGTCGAAC	0.562																																					p.A1322S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3964T	16						.						54.0	53.0	54.0					16																	71682801		2198	4300	6498	70240302	SO:0001583	missense	23035	exon18			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3964G>T	16.37:g.71682801C>A	ENSP00000457991:p.Ala1322Ser		70240302	NM_015020	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761414	0.69763	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.51817	1.27;0.69	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.57066	0.2028	L	0.47716	1.5	0.47737	D	0.999504	D;P	0.55605	0.972;0.953	P;P	0.53912	0.737;0.551	T	0.44112	-0.9349	10	0.32370	T	0.25	-16.7206	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1255;1322	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	S	1322;1255	ENSP00000348611:A1322S;ENSP00000377159:A1255S	ENSP00000348611:A1322S	A	-	1	0	PHLPP2	70240302	0.996000	0.38824	0.899000	0.35326	0.611000	0.37282	3.194000	0.51005	2.941000	0.99782	0.655000	0.94253	GCA		0.562	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020	
CTRB2	440387	broad.mit.edu	37	16	75238125	75238125	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:75238125C>T	ENST00000303037.8	-	7	769	c.726G>A	c.(724-726)acG>acA	p.T242T		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T242T(1)		endometrium(1)|large_intestine(1)|lung(2)	4						ACACAGCGGGCGTGGTGGTAG	0.652																																					p.T242T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G726A	16						.						95.0	85.0	89.0					16																	75238125		2198	4300	6498	73795626	SO:0001819	synonymous_variant	440387	exon7			M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.726G>A	16.37:g.75238125C>T			73795626	NM_001025200	A8K707	Silent	SNP	ENST00000303037.8	37	CCDS32489.1																																																																																				0.652	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354298.2	NM_001025200	
CHST5	23563	broad.mit.edu	37	16	75563756	75563756	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:75563756G>A	ENST00000336257.3	-	3	1921	c.527C>T	c.(526-528)aCg>aTg	p.T176M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.T182M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.T176M(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGGCTGCCGCGTGCACAGTGT	0.662																																					p.T176M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C527T	16						.						97.0	103.0	101.0					16																	75563756		2198	4299	6497	74121257	SO:0001583	missense	23563	exon3			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.527C>T	16.37:g.75563756G>A	ENSP00000338783:p.Thr176Met		74121257	NM_024533	B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220308	0.22457	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96491	-4.03;-4.03	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.182827	0.45126	D	0.000397	D	0.92218	0.7532	N	0.08118	0	0.19775	N	0.99995	P;P	0.50819	0.925;0.939	P;P	0.53062	0.707;0.717	D	0.86000	0.1494	10	0.51188	T	0.08	.	8.6504	0.34031	0.0:0.4004:0.5996:0.0	.	182;176	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	176;182	ENSP00000338783:T176M;ENSP00000441220:T182M	ENSP00000338783:T176M	T	-	2	0	CHST5	74121257	0.000000	0.05858	0.995000	0.50966	0.267000	0.26476	0.105000	0.15333	1.514000	0.48869	0.313000	0.20887	ACG		0.662	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126	
ADAT1	23536	broad.mit.edu	37	16	75634205	75634205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:75634205G>A	ENST00000307921.3	-	11	1563	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	RP11-77K12.8_ENST00000564489.1_RNA|ADAT1_ENST00000568478.1_5'UTR	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	473	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.A473V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTAAGAGGACGCAGCCTCCTT	0.532																																					p.A473V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1418T	16						.						111.0	104.0	106.0					16																	75634205		2198	4300	6498	74191706	SO:0001583	missense	23536	exon11			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1418C>T	16.37:g.75634205G>A	ENSP00000310015:p.Ala473Val		74191706	NM_012091	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193833	0.78902	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94862	-3.54	5.69	5.69	0.88448	Adenosine deaminase/editase (3);	0.099857	0.64402	D	0.000002	D	0.96399	0.8825	M	0.70842	2.15	0.49130	D	0.999757	D	0.76494	0.999	D	0.65684	0.937	D	0.95341	0.8438	10	0.35671	T	0.21	-4.4372	15.32	0.74115	0.0:0.0:1.0:0.0	.	473	Q9BUB4	ADAT1_HUMAN	V	473;444	ENSP00000310015:A473V	ENSP00000310015:A473V	A	-	2	0	ADAT1	74191706	0.996000	0.38824	0.202000	0.23494	0.812000	0.45895	5.924000	0.70054	2.677000	0.91161	0.655000	0.94253	GCG		0.532	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091	
PKD1L2	114780	broad.mit.edu	37	16	81151129	81151129	+	RNA	SNP	C	C	T	rs145803547	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:81151129C>T	ENST00000534142.1	-	0	1007				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTACTCATGCGCTTGCCCTG	0.637													C|||	8	0.00159744	0.0061	0.0	5008	,	,		17871	0.0		0.0	False		,,,				2504	0.0				p.A2207T												.	.	0			c.G6619A	16						.	C	HIS/ARG	12,3932		0,12,1960	95.0	94.0	95.0		6619	1.1	1.0	16	dbSNP_134	95	0,8276		0,0,4138	yes	missense	PKD1L2	NM_052892.3	29	0,12,6098	TT,TC,CC		0.0,0.3043,0.0982	possibly-damaging	2207/2460	81151129	12,12208	1972	4138	6110	79708630			114780	exon39			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81151129C>T			79708630	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37																																																																																					0.637	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
GRIN2A	2903	broad.mit.edu	37	16	9857810	9857810	+	Silent	SNP	A	A	C	rs532278751	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:9857810A>C	ENST00000396573.2	-	14	3900	c.3591T>G	c.(3589-3591)ggT>ggG	p.G1197G	GRIN2A_ENST00000404927.2_Silent_p.G1197G|GRIN2A_ENST00000396575.2_Silent_p.G1197G|GRIN2A_ENST00000330684.3_Silent_p.G1197G|GRIN2A_ENST00000562109.1_Silent_p.G1197G|GRIN2A_ENST00000535259.1_Silent_p.G1040G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1197					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G1197G(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTGCGGGGAACCCTTGTCTT	0.532																																					p.G1197G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3591G	16						.						322.0	310.0	314.0					16																	9857810		2197	4300	6497	9765311	SO:0001819	synonymous_variant	2903	exon13				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3591T>G	16.37:g.9857810A>C			9765311	NM_001134408	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																				0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
RPGRIP1L	23322	broad.mit.edu	37	16	53720399	53720400	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	TT	TT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:53720399_53720400delTT	ENST00000379925.3	-	6	771_772	c.721_722delAA	c.(721-723)aatfs	p.N241fs	RPGRIP1L_ENST00000262135.4_Frame_Shift_Del_p.N241fs|RPGRIP1L_ENST00000564374.1_Frame_Shift_Del_p.N241fs|RPGRIP1L_ENST00000563746.1_Frame_Shift_Del_p.N241fs	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	241					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.N241fs*1(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTCAATTTCATTTTCTTTTCTC	0.356																																					p.241_241del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.721_722del	16						.																																			52277901	SO:0001589	frameshift_variant	23322	exon6				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.721_722delAA	16.37:g.53720401_53720402delTT	ENSP00000369257:p.Asn241fs		52277900	NM_001127897	A0PJ88|Q9Y2K8	Frame_Shift_Del	DEL	ENST00000379925.3	37	CCDS32447.1																																																																																				0.356	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
HCCAT5	283902	broad.mit.edu	37	16	73127067	73127067	+	lincRNA	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:73127067G>A	ENST00000569990.2	+	0	725					NR_027756.1				hepatocellular carcinoma associated transcript 5 (non-protein coding)																		CTCACCTCCAGCAGAGGTTTT	0.537																																					.												.	.	0			.	16						.						46.0	47.0	47.0					16																	73127067		1948	4130	6078	71684568			283902	.					16q22.3	2014-06-20			ENSG00000260880	ENSG00000260880		"""Long non-coding RNAs"""	48612	non-coding RNA	RNA, long non-coding	"""hepatoma associated gene"""	615613				20130911, 23314567	Standard	NR_027756		Approved	HTA, FJ222407			OTTHUMG00000172964		16.37:g.73127067G>A			71684568	.		Missense_Mutation	SNP	ENST00000569990.2	37																																																																																					0.537	HCCAT5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440524.1	NR_027756	
GSE1	23199	broad.mit.edu	37	16	85701894	85701894	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr16:85701894A>G	ENST00000253458.7	+	14	3455	c.3279A>G	c.(3277-3279)ccA>ccG	p.P1093P	GSE1_ENST00000405402.2_Silent_p.P989P|GSE1_ENST00000393243.1_Silent_p.P1020P	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1093								p.P1093P(1)									AGGGCCCCCCAACCCAGGAGT	0.627																																					p.P989P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2967G	16						.						50.0	58.0	55.0					16																	85701894		2198	4300	6498	84259395	SO:0001819	synonymous_variant	23199	exon13			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3279A>G	16.37:g.85701894A>G			84259395	NM_001134473	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	A	0.100	-1.153527	0.01700	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	5.53	-2.9	0.05648	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28299	-1.0048	4	.	.	.	-3.5528	3.1273	0.06412	0.1953:0.2661:0.387:0.1517	.	.	.	.	R	862;295	.	.	Q	+	2	0	KIAA0182	84259395	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.757000	0.04772	-0.452000	0.07087	-0.396000	0.06452	CAA		0.627	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
MYH1	4619	broad.mit.edu	37	17	10408534	10408534	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:10408534G>T	ENST00000226207.5	-	21	2475	c.2381C>A	c.(2380-2382)gCc>gAc	p.A794D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	794	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A794D(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGCACATGGCCTGGGTTCG	0.453																																					p.A794D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2381A	17						.						81.0	84.0	83.0					17																	10408534		2203	4300	6503	10349259	SO:0001583	missense	4619	exon21				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2381C>A	17.37:g.10408534G>T	ENSP00000226207:p.Ala794Asp		10349259	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730294	0.89390	.	.	ENSG00000109061	ENST00000226207	T	0.73897	-0.79	5.47	5.47	0.80525	.	0.000000	0.42964	U	0.000638	D	0.87799	0.6268	H	0.95504	3.68	0.80722	D	1	P	0.44986	0.847	P	0.50082	0.63	D	0.90904	0.4771	10	0.87932	D	0	.	19.6961	0.96026	0.0:0.0:1.0:0.0	.	794	P12882	MYH1_HUMAN	D	794	ENSP00000226207:A794D	ENSP00000226207:A794D	A	-	2	0	MYH1	10349259	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.598000	0.98277	2.745000	0.94114	0.650000	0.86243	GCC		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MAP2K4	6416	broad.mit.edu	37	17	12016618	12016618	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:12016618G>A	ENST00000353533.5	+	7	817	c.754G>A	c.(754-756)Gga>Aga	p.G252R	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.G263R	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|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 DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|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)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.G252R(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CGGCATCAGTGGACAGCTTGT	0.423			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																p.G252R			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	.	12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	ovary(4)|breast(4)|large_intestine(2)|biliary_tract(1)|pancreas(1)	c.G754A	17						.						106.0	102.0	103.0					17																	12016618		2203	4300	6503	11957343	SO:0001583	missense	6416	exon7			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.754G>A	17.37:g.12016618G>A	ENSP00000262445:p.Gly252Arg		11957343	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831033	0.91036	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.15834	2.39;2.39	4.41	4.41	0.53225	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	T	0.17066	0.0410	N	0.01297	-0.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.56347	-0.7994	10	0.87932	D	0	.	15.9715	0.80025	0.0:0.0:1.0:0.0	.	124;263;252	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	R	252;263;229;124	ENSP00000262445:G252R;ENSP00000410402:G263R	ENSP00000262445:G252R	G	+	1	0	MAP2K4	11957343	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.297000	0.77311	0.591000	0.81541	GGA		0.423	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
ELAC2	60528	broad.mit.edu	37	17	12897079	12897079	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:12897079G>A	ENST00000338034.4	-	23	2417	c.2178C>T	c.(2176-2178)agC>agT	p.S726S	ELAC2_ENST00000426905.3_Silent_p.S686S|ELAC2_ENST00000395962.2_Silent_p.S707S	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	726					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S726S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CATAGCGCTGGCTGAAGTGGT	0.552																																					p.S686S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2058T	17						.						190.0	136.0	155.0					17																	12897079		2203	4300	6503	12837804	SO:0001819	synonymous_variant	60528	exon22			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.2178C>T	17.37:g.12897079G>A			12837804	NM_001165962	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	CCDS11164.1																																																																																				0.552	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5		
COX10	1352	broad.mit.edu	37	17	14095356	14095356	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:14095356C>T	ENST00000261643.3	+	6	823	c.746C>T	c.(745-747)gCc>gTc	p.A249V	COX10_ENST00000536205.1_Missense_Mutation_p.A57V|COX10_ENST00000537334.1_Missense_Mutation_p.A32V	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	249					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)	p.A249V(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCGGGAGTTGCCATTCTGACC	0.498																																					p.A249V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746T	17						.						121.0	117.0	118.0					17																	14095356		2203	4300	6503	14036081	SO:0001583	missense	1352	exon6			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.746C>T	17.37:g.14095356C>T	ENSP00000261643:p.Ala249Val		14036081	NM_001303	B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654268	0.67472	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.93247	-3.19;-3.19;-3.19	4.96	4.96	0.65561	.	0.176712	0.50627	D	0.000118	D	0.88104	0.6347	N	0.17800	0.525	0.48696	D	0.999697	B;B	0.12013	0.005;0.005	B;B	0.21151	0.033;0.022	D	0.83503	0.0076	10	0.29301	T	0.29	.	16.7712	0.85538	0.0:1.0:0.0:0.0	.	57;249	B4DJ50;Q12887	.;COX10_HUMAN	V	249;57;32	ENSP00000261643:A249V;ENSP00000439494:A57V;ENSP00000443354:A32V	ENSP00000261643:A249V	A	+	2	0	COX10	14036081	1.000000	0.71417	0.981000	0.43875	0.861000	0.49209	4.377000	0.59562	2.470000	0.83445	0.655000	0.94253	GCC		0.498	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303	
NCOR1	9611	broad.mit.edu	37	17	15968252	15968252	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:15968252A>T	ENST00000268712.3	-	34	5290	c.5033T>A	c.(5032-5034)aTc>aAc	p.I1678N	NCOR1_ENST00000395851.1_Missense_Mutation_p.I1694N|NCOR1_ENST00000395857.3_Missense_Mutation_p.I262N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1678	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.I1678N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATATAAGTGATTCTGTCCAT	0.448																																					p.I1694N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5081A	17						.						199.0	171.0	180.0					17																	15968252		2203	4300	6503	15908977	SO:0001583	missense	9611	exon33			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5033T>A	17.37:g.15968252A>T	ENSP00000268712:p.Ile1678Asn		15908977	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470215	0.84533	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.59224	0.28;0.28;0.28	5.55	5.55	0.83447	.	0.046806	0.85682	D	0.000000	T	0.72471	0.3464	L	0.57536	1.79	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.999;0.999;0.994;0.996;0.999	D;D;P;P;D	0.80764	0.982;0.988;0.795;0.899;0.994	T	0.75456	-0.3311	10	0.87932	D	0	-8.6001	14.8743	0.70483	1.0:0.0:0.0:0.0	.	488;1582;1678;1694;198	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	N	1678;1694;1582;262	ENSP00000268712:I1678N;ENSP00000379192:I1694N;ENSP00000379198:I262N	ENSP00000268712:I1678N	I	-	2	0	NCOR1	15908977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.961000	0.76042	2.097000	0.63578	0.528000	0.53228	ATC		0.448	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
RTN4RL1	146760	broad.mit.edu	37	17	1840731	1840731	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:1840731C>T	ENST00000331238.6	-	2	864	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGGTAGAGGGCGTGAAGCTTC	0.652																																					p.A129T	GBM(68;949 1139 14865 32798 38342)											.	.	0			c.G385A	17						.						49.0	55.0	53.0					17																	1840731		2197	4291	6488	1787481	SO:0001583	missense	146760	exon2			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.385G>A	17.37:g.1840731C>T	ENSP00000330631:p.Ala129Thr		1787481	NM_178568		Missense_Mutation	SNP	ENST00000331238.6	37	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627940	0.46944	.	.	ENSG00000185924	ENST00000331238	T	0.57107	0.42	5.72	5.72	0.89469	.	0.000000	0.39020	N	0.001482	T	0.28995	0.0720	N	0.00517	-1.405	0.58432	D	0.999999	B	0.33739	0.422	B	0.41691	0.364	T	0.44221	-0.9342	10	0.12430	T	0.62	.	19.9443	0.97176	0.0:1.0:0.0:0.0	.	129	Q86UN2	R4RL1_HUMAN	T	129	ENSP00000330631:A129T	ENSP00000330631:A129T	A	-	1	0	RTN4RL1	1787481	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.920000	0.70017	2.717000	0.92951	0.644000	0.83932	GCC		0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568	
CCDC144A	9720	broad.mit.edu	37	17	16612506	16612506	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:16612506C>A	ENST00000360524.8	+	5	1211	c.1135C>A	c.(1135-1137)Cca>Aca	p.P379T	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.P379T|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000399273.1_Missense_Mutation_p.P379T|CCDC144A_ENST00000340621.5_Missense_Mutation_p.P378T|CCDC144A_ENST00000443444.2_Missense_Mutation_p.P379T|CCDC144A_ENST00000456009.1_Intron	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	379								p.P379T(1)									ATACTATCATCCATACTCTGG	0.383																																					p.P379T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1135A	17						.						118.0	109.0	112.0					17																	16612506		1833	4081	5914	16553231	SO:0001583	missense	9720	exon5			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1135C>A	17.37:g.16612506C>A	ENSP00000353717:p.Pro379Thr		16553231	NM_014695	O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	9.642	1.139241	0.21205	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	1.26	-0.0882	0.13674	.	.	.	.	.	T	0.08403	0.0209	N	0.22421	0.69	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.24476	-1.0159	8	.	.	.	.	3.1446	0.06467	0.0:0.3054:0.0:0.6946	.	379	A2RUR9	C144A_HUMAN	T	378;379;379;379;379;379	ENSP00000344740:P378T;ENSP00000382215:P379T;ENSP00000439262:P379T;ENSP00000440655:P379T;ENSP00000353717:P379T;ENSP00000353685:P379T	.	P	+	1	0	CCDC144A	16553231	0.000000	0.05858	0.018000	0.16275	0.083000	0.17756	-2.033000	0.01425	-0.236000	0.09753	0.175000	0.17021	CCA		0.383	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
TOP3A	7156	broad.mit.edu	37	17	18181067	18181067	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:18181067G>A	ENST00000321105.5	-	18	2963	c.2749C>T	c.(2749-2751)Cgc>Tgc	p.R917C	TOP3A_ENST00000542570.1_Missense_Mutation_p.R822C|TOP3A_ENST00000540524.1_Missense_Mutation_p.R447C	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	917	2 X 27 AA approximate repeats.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.R917C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGGAACTGGCGCCCCTTGTTG	0.607																																					p.R917C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2749T	17						.						115.0	102.0	106.0					17																	18181067		2203	4300	6503	18121792	SO:0001583	missense	7156	exon18			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2749C>T	17.37:g.18181067G>A	ENSP00000321636:p.Arg917Cys		18121792	NM_004618	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325234	0.41197	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.48201	0.82;0.82;0.82	5.65	5.65	0.86999	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86194	0.1614	10	0.87932	D	0	-29.3653	19.7199	0.96137	0.0:0.0:1.0:0.0	.	822;917	B4DK80;Q13472	.;TOP3A_HUMAN	C	917;447;822	ENSP00000321636:R917C;ENSP00000446425:R447C;ENSP00000442336:R822C	ENSP00000321636:R917C	R	-	1	0	TOP3A	18121792	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.433000	0.52834	2.677000	0.91161	0.549000	0.68633	CGC		0.607	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2		
KIAA0100	9703	broad.mit.edu	37	17	26946935	26946935	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:26946935C>T	ENST00000528896.2	-	30	5537	c.5463G>A	c.(5461-5463)gtG>gtA	p.V1821V	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.V1678V|KIAA0100_ENST00000544884.1_Silent_p.V1678V|KIAA0100_ENST00000579924.2_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1821						extracellular region (GO:0005576)		p.V1821V(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CATGCTGCCGCACAGCCTCCT	0.493																																					p.V1821V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5463A	17						.						99.0	91.0	93.0					17																	26946935		2203	4300	6503	23971062	SO:0001819	synonymous_variant	9703	exon30			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5463G>A	17.37:g.26946935C>T			23971062	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
MYO18A	399687	broad.mit.edu	37	17	27442707	27442707	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:27442707C>A	ENST00000527372.1	-	12	2382	c.2202G>T	c.(2200-2202)gaG>gaT	p.E734D	MYO18A_ENST00000354329.4_Missense_Mutation_p.E734D|MYO18A_ENST00000531253.1_Missense_Mutation_p.E734D|MYO18A_ENST00000533112.1_Missense_Mutation_p.E734D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	734	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.E734D(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCCACTCTCCTCGGGGCCCT	0.642																																					p.E734D	Esophageal Squamous(182;472 2015 7001 15270 22562)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2202T	17						.						24.0	31.0	29.0					17																	27442707		2033	4185	6218	24466833	SO:0001583	missense	399687	exon12			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2202G>T	17.37:g.27442707C>A	ENSP00000437073:p.Glu734Asp		24466833	NM_203318	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570407	0.28003	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.44	2.22	0.28083	Myosin head, motor domain (2);	0.095649	0.64402	D	0.000001	T	0.45377	0.1339	N	0.16478	0.41	0.31721	N	0.638271	B;B;B;B;B	0.10296	0.003;0.001;0.003;0.003;0.002	B;B;B;B;B	0.12156	0.003;0.004;0.006;0.004;0.007	T	0.26018	-1.0115	10	0.19590	T	0.45	.	2.6211	0.04917	0.2032:0.4647:0.1872:0.1449	.	403;346;734;734;734	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	D	734;734;734;734;734;346	ENSP00000346291:E734D;ENSP00000435932:E734D;ENSP00000434228:E734D;ENSP00000437073:E734D	ENSP00000346291:E734D	E	-	3	2	MYO18A	24466833	0.324000	0.24652	0.999000	0.59377	0.963000	0.63663	-0.563000	0.05943	0.689000	0.31550	0.655000	0.94253	GAG		0.642	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
MYO18A	399687	broad.mit.edu	37	17	27493331	27493331	+	Missense_Mutation	SNP	C	C	T	rs200761046		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:27493331C>T	ENST00000527372.1	-	2	808	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	MYO18A_ENST00000354329.4_Missense_Mutation_p.V210M|MYO18A_ENST00000531253.1_Missense_Mutation_p.V210M|MYO18A_ENST00000533112.1_Missense_Mutation_p.V210M	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	210	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.V210M(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGGGGCACCACGGGGGGCAGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15379	0.001		0.0	False		,,,				2504	0.0				p.V210M	Esophageal Squamous(182;472 2015 7001 15270 22562)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G628A	17						.						38.0	47.0	44.0					17																	27493331		1934	4124	6058	24517457	SO:0001583	missense	399687	exon2			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.628G>A	17.37:g.27493331C>T	ENSP00000437073:p.Val210Met		24517457	NM_203318	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.58	1.980613	0.34942	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.90261	-2.54;-2.64;-2.52;-2.54	5.21	4.22	0.49857	PDZ/DHR/GLGF (1);	0.209760	0.39759	N	0.001275	D	0.90587	0.7049	L	0.48642	1.525	0.33542	D	0.594998	D;P;P	0.57899	0.981;0.69;0.563	P;B;B	0.51193	0.662;0.286;0.149	D	0.93970	0.7248	10	0.87932	D	0	.	15.1585	0.72761	0.0:0.7053:0.2947:0.0	.	210;210;210	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	M	210	ENSP00000346291:V210M;ENSP00000435932:V210M;ENSP00000434228:V210M;ENSP00000437073:V210M	ENSP00000346291:V210M	V	-	1	0	MYO18A	24517457	0.670000	0.27512	0.152000	0.22495	0.762000	0.43233	1.309000	0.33539	1.389000	0.46526	0.563000	0.77884	GTG		0.667	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
CORO6	84940	broad.mit.edu	37	17	27943799	27943799	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:27943799A>G	ENST00000445145.2	-	7	926	c.925T>C	c.(925-927)Ttc>Ctc	p.F309L	CORO6_ENST00000388767.3_Missense_Mutation_p.F309L|CORO6_ENST00000584969.1_Missense_Mutation_p.F309L|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000345068.5_Missense_Mutation_p.F309L|CORO6_ENST00000456796.3_Missense_Mutation_p.F75L|CORO6_ENST00000580212.1_Missense_Mutation_p.F269L			Q6QEF8	CORO6_HUMAN	coronin 6	309					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.F309L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TTGCTGCTGAACGTGTTCAGG	0.602																																					p.F309L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T925C	17						.						95.0	102.0	100.0					17																	27943799		2203	4300	6503	24967925	SO:0001583	missense	84940	exon7			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.925T>C	17.37:g.27943799A>G	ENSP00000393624:p.Phe309Leu		24967925	NM_032854	B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37		.	.	.	.	.	.	.	.	.	.	A	16.53	3.147877	0.57151	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145;ENST00000456796	T;T;T	0.31510	1.49;1.49;1.49	5.29	5.29	0.74685	.	0.057239	0.64402	D	0.000001	T	0.48677	0.1513	M	0.62209	1.925	0.80722	D	1	D;B	0.54047	0.964;0.046	P;B	0.57776	0.827;0.182	T	0.51702	-0.8672	10	0.87932	D	0	-18.3279	14.9148	0.70789	1.0:0.0:0.0:0.0	.	75;309	Q6QEF8-4;Q6QEF8-5	.;.	L	380;309;309;75	ENSP00000373419:F309L;ENSP00000393624:F309L;ENSP00000403019:F75L	ENSP00000344562:F380L	F	-	1	0	CORO6	24967925	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.281000	0.95811	1.992000	0.58205	0.533000	0.62120	TTC		0.602	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	
SSH2	85464	broad.mit.edu	37	17	28030074	28030074	+	Silent	SNP	G	G	A	rs185441466	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:28030074G>A	ENST00000269033.3	-	3	265	c.114C>T	c.(112-114)agC>agT	p.S38S	SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.S65S	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	38					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S38S(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAAGCTCTCGCTGATGCTAC	0.418													G|||	2	0.000399361	0.0	0.0	5008	,	,		19071	0.0		0.002	False		,,,				2504	0.0				p.S38S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C114T	17						.	G		2,4404	4.2+/-10.8	0,2,2201	141.0	138.0	139.0		114	2.0	1.0	17		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SSH2	NM_033389.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		38/1424	28030074	3,13003	2203	4300	6503	25054200	SO:0001819	synonymous_variant	85464	exon3			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.114C>T	17.37:g.28030074G>A			25054200	NM_033389	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	CCDS11253.1																																																																																				0.418	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	
NSRP1	84081	broad.mit.edu	37	17	28512675	28512675	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:28512675G>C	ENST00000247026.5	+	7	1723	c.1660G>C	c.(1660-1662)Gag>Cag	p.E554Q	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	554					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.E554Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GACCTATATTGAGAAAGAAGA	0.438																																					p.E554Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660C	17						.						79.0	86.0	84.0					17																	28512675		2202	4299	6501	25536801	SO:0001583	missense	84081	exon7			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1660G>C	17.37:g.28512675G>C	ENSP00000247026:p.Glu554Gln		25536801	NM_032141	Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033470	0.54896	.	.	ENSG00000126653	ENST00000247026;ENST00000540900	T	0.59502	0.26	5.84	4.88	0.63580	.	0.054132	0.64402	D	0.000001	T	0.65913	0.2737	M	0.63843	1.955	0.80722	D	1	D	0.56035	0.974	P	0.52710	0.707	T	0.70008	-0.4990	10	0.66056	D	0.02	-10.4041	14.003	0.64444	0.0724:0.0:0.9276:0.0	.	554	Q9H0G5	NSRP1_HUMAN	Q	554;485	ENSP00000247026:E554Q	ENSP00000247026:E554Q	E	+	1	0	NSRP1	25536801	1.000000	0.71417	0.994000	0.49952	0.143000	0.21401	9.384000	0.97219	1.483000	0.48342	0.557000	0.71058	GAG		0.438	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141	
ATAD5	79915	broad.mit.edu	37	17	29161513	29161513	+	Silent	SNP	C	C	T	rs367906557		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:29161513C>T	ENST00000321990.4	+	2	792	c.414C>T	c.(412-414)agC>agT	p.S138S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	138					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S138S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAATTAGTAGCGACGATAGCA	0.294													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19673	0.0		0.0	False		,,,				2504	0.0				p.S138S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	17						.	C		1,4405	2.1+/-5.4	0,1,2202	122.0	138.0	133.0		414	2.3	0.4	17		133	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ATAD5	NM_024857.3		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		138/1845	29161513	2,12998	2203	4297	6500	26185639	SO:0001819	synonymous_variant	79915	exon2				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.414C>T	17.37:g.29161513C>T			26185639	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	CCDS11260.1																																																																																				0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ATAD5	79915	broad.mit.edu	37	17	29182303	29182303	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:29182303A>G	ENST00000321990.4	+	7	2971	c.2593A>G	c.(2593-2595)Acc>Gcc	p.T865A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	865					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.T865A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGCAGTGAGTACCAGTTTCCA	0.388																																					p.T865A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2593G	17						.						89.0	77.0	81.0					17																	29182303		2203	4300	6503	26206429	SO:0001583	missense	79915	exon7				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2593A>G	17.37:g.29182303A>G	ENSP00000313171:p.Thr865Ala		26206429	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	6.890	0.533685	0.13188	.	.	ENSG00000176208	ENST00000321990	D	0.86230	-2.09	5.6	-5.46	0.02608	.	0.445183	0.26187	N	0.025834	T	0.67711	0.2922	N	0.17474	0.49	0.23685	N	0.997115	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.56926	-0.7898	10	0.17832	T	0.49	.	6.4373	0.21831	0.1922:0.0:0.3045:0.5034	.	865;865	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	A	865	ENSP00000313171:T865A	ENSP00000313171:T865A	T	+	1	0	ATAD5	26206429	0.612000	0.27000	0.056000	0.19401	0.142000	0.21351	-0.013000	0.12678	-0.837000	0.04223	-0.476000	0.04901	ACC		0.388	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
TRPV1	7442	broad.mit.edu	37	17	3477092	3477092	+	Silent	SNP	G	G	A	rs569486186	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:3477092G>A	ENST00000571088.1	-	13	2151	c.1938C>T	c.(1936-1938)ggC>ggT	p.G646G	TRPV1_ENST00000310522.5_Silent_p.G586G|TRPV1_ENST00000399759.3_Silent_p.G646G|TRPV1_ENST00000174621.6_Silent_p.G644G|TRPV1_ENST00000576351.1_Silent_p.G636G|TRPV1_ENST00000425167.2_Silent_p.G657G|TRPV1_ENST00000399756.4_Silent_p.G646G|SHPK_ENST00000572705.1_Silent_p.G646G	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	646					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.G646G(1)|p.G657G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACTCCAGGTCGCCCATGCCGA	0.567													G|||	2	0.000399361	0.0008	0.0	5008	,	,		12796	0.0		0.0	False		,,,				2504	0.001				p.A646V	Melanoma(38;962 1762 15789)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1937T	17						.						112.0	113.0	113.0					17																	3477092		2194	4298	6492	3423842	SO:0001819	synonymous_variant	7442	exon13			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1938C>T	17.37:g.3477092G>A			3423842	NM_018727	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	CCDS45576.1																																																																																				0.567	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	
DHRS11	79154	broad.mit.edu	37	17	34958638	34958638	+	IGR	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:34958638G>T	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_Intron|MRM1_ENST00000250156.7_Missense_Mutation_p.E133D	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.E133D(1)		endometrium(1)|lung(4)	5						CTTGGAGAGAGGCCGGGGAGG	0.672																																					p.E133D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G399T	17						.						15.0	19.0	18.0					17																	34958638		2130	4162	6292	32032751	SO:0001628	intergenic_variant	79922	exon1				CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958638G>T			32032751	NM_024864	B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155223	0.21371	.	.	ENSG00000129282	ENST00000250156	T	0.27890	1.64	4.74	3.74	0.42951	.	0.203868	0.43110	D	0.000610	T	0.12902	0.0313	N	0.11756	0.17	0.22096	N	0.999363	B	0.18013	0.025	B	0.15870	0.014	T	0.30268	-0.9984	10	0.02654	T	1	-25.7551	8.6685	0.34137	0.0894:0.1555:0.7551:0.0	.	133	Q6IN84	MRM1_HUMAN	D	133	ENSP00000250156:E133D	ENSP00000250156:E133D	E	+	3	2	MRM1	32032751	0.727000	0.28069	0.075000	0.20258	0.153000	0.21895	0.278000	0.18753	2.340000	0.79590	0.555000	0.69702	GAG		0.672	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308	
PLXDC1	57125	broad.mit.edu	37	17	37262189	37262189	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:37262189C>T	ENST00000315392.4	-	7	940	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PLXDC1_ENST00000394316.2_Silent_p.P243P|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.P203P|PLXDC1_ENST00000539608.1_Silent_p.P170P	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	243					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.P243P(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGATTTCCGGGACAGACA	0.602																																					p.P243P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G729A	17						.						107.0	106.0	107.0					17																	37262189		2203	4300	6503	34515715	SO:0001819	synonymous_variant	57125	exon7			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.729G>A	17.37:g.37262189C>T			34515715	NM_020405	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	5.927	0.355099	0.11239	.	.	ENSG00000161381	ENST00000444435	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.71417	0.3337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70432	-0.4873	4	.	.	.	-2.3438	15.5258	0.75905	0.0:1.0:0.0:0.0	.	.	.	.	Q	27	.	.	R	-	2	0	PLXDC1	34515715	0.687000	0.27671	1.000000	0.80357	0.516000	0.34256	0.996000	0.29719	2.440000	0.82611	0.561000	0.74099	CGG		0.602	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405	
ZZEF1	23140	broad.mit.edu	37	17	4009069	4009069	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:4009069A>T	ENST00000381638.2	-	7	1436	c.1312T>A	c.(1312-1314)Tca>Aca	p.S438T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	438							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S438T(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATCCTGGTGAGAGAGAGAGT	0.418																																					p.S438T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1312A	17						.						98.0	97.0	97.0					17																	4009069		2203	4300	6503	3955818	SO:0001583	missense	23140	exon7			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1312T>A	17.37:g.4009069A>T	ENSP00000371051:p.Ser438Thr		3955818	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.531342	0.27387	.	.	ENSG00000074755	ENST00000381638	T	0.43688	0.94	5.89	5.89	0.94794	.	0.059362	0.64402	D	0.000003	T	0.19525	0.0469	N	0.04203	-0.255	0.37011	D	0.895754	B;B	0.13594	0.008;0.004	B;B	0.12156	0.007;0.003	T	0.23976	-1.0173	10	0.10377	T	0.69	-10.3364	10.5056	0.44832	0.7607:0.0:0.0:0.2393	.	438;438	O43149-3;O43149	.;ZZEF1_HUMAN	T	438	ENSP00000371051:S438T	ENSP00000371051:S438T	S	-	1	0	ZZEF1	3955818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.217000	0.65252	2.254000	0.74563	0.533000	0.62120	TCA		0.418	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
AOC3	8639	broad.mit.edu	37	17	41004165	41004165	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:41004165C>T	ENST00000308423.2	+	1	965	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	269					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.R269C(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTATCAAGGCCGCTACTACGA	0.612																																					p.R269C	NSCLC(3;192 220 10664 11501 16477)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805T	17						.						34.0	28.0	30.0					17																	41004165		2202	4298	6500	38257691	SO:0001583	missense	8639	exon1			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.805C>T	17.37:g.41004165C>T	ENSP00000312326:p.Arg269Cys		38257691	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622237	0.28889	.	.	ENSG00000131471	ENST00000308423	T	0.18174	2.23	4.82	4.82	0.62117	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.349623	0.27563	N	0.018805	T	0.14141	0.0342	L	0.38531	1.155	0.80722	D	1	B	0.23735	0.09	B	0.20577	0.03	T	0.03875	-1.0996	10	0.72032	D	0.01	.	9.6822	0.40076	0.1579:0.6895:0.1527:0.0	.	269	Q16853	AOC3_HUMAN	C	269	ENSP00000312326:R269C	ENSP00000312326:R269C	R	+	1	0	AOC3	38257691	0.066000	0.20996	1.000000	0.80357	0.995000	0.86356	0.861000	0.27885	2.229000	0.72834	0.491000	0.48974	CGC		0.612	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
SLC4A1	6521	broad.mit.edu	37	17	42335965	42335965	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:42335965A>G	ENST00000262418.6	-	10	1058	c.903T>C	c.(901-903)gcT>gcC	p.A301A	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	301					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.A301A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTCGGCTCTGAGCCATGTAGG	0.657																																					p.A301A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T903C	17						.						26.0	27.0	27.0					17																	42335965		2200	4298	6498	39691491	SO:0001819	synonymous_variant	6521	exon10				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.903T>C	17.37:g.42335965A>G			39691491	NM_000342	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																				0.657	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
FMNL1	752	broad.mit.edu	37	17	43315947	43315947	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:43315947A>G	ENST00000331495.3	+	10	1247	c.911A>G	c.(910-912)cAc>cGc	p.H304R	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.H304R|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_5'Flank|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	304	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.H304R(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGGGAGCAGCACCGCTTTGAA	0.577																																					p.H304R	GBM(164;1247 1997 8702 11086 51972)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A911G	17						.						95.0	88.0	90.0					17																	43315947		2203	4300	6503	40671730	SO:0001583	missense	752	exon10			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.911A>G	17.37:g.43315947A>G	ENSP00000329219:p.His304Arg		40671730	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	A	3.776	-0.046587	0.07407	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	D;D	0.82433	-1.61;-1.61	4.04	4.04	0.47022	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.392778	0.28230	N	0.016105	T	0.60907	0.2305	N	0.03608	-0.345	0.34149	D	0.66734	B	0.28820	0.224	B	0.28011	0.085	T	0.64398	-0.6417	10	0.10377	T	0.69	.	11.1514	0.48462	1.0:0.0:0.0:0.0	.	304	O95466	FMNL_HUMAN	R	304;304;22	ENSP00000327442:H304R;ENSP00000329219:H304R	ENSP00000327442:H304R	H	+	2	0	FMNL1	40671730	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	3.247000	0.51422	1.820000	0.53075	0.329000	0.21502	CAC		0.577	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
MYBBP1A	10514	broad.mit.edu	37	17	4448586	4448586	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:4448586C>T	ENST00000254718.4	-	16	2434	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.D710N			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	710					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.D710N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCATCAGAATCGTCCGTCACC	0.672																																					p.D710N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2128A	17						.						109.0	102.0	104.0					17																	4448586		2203	4300	6503	4395335	SO:0001583	missense	10514	exon16			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2128G>A	17.37:g.4448586C>T	ENSP00000254718:p.Asp710Asn		4395335	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	16.28	3.079574	0.55753	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.48836	0.8;0.8	4.72	3.75	0.43078	Armadillo-type fold (1);	0.258958	0.43579	D	0.000544	T	0.44456	0.1294	M	0.64997	1.995	0.18873	N	0.999988	D;P	0.54207	0.965;0.907	P;B	0.44732	0.459;0.194	T	0.45160	-0.9280	10	0.48119	T	0.1	-8.0809	7.8922	0.29684	0.0:0.8907:0.0:0.1093	.	710;710	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	N	710	ENSP00000370968:D710N;ENSP00000254718:D710N	ENSP00000254718:D710N	D	-	1	0	MYBBP1A	4395335	0.079000	0.21365	0.044000	0.18714	0.033000	0.12548	2.444000	0.44890	2.554000	0.86153	0.542000	0.68232	GAT		0.672	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
KANSL1	284058	broad.mit.edu	37	17	44110518	44110518	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:44110518G>A	ENST00000262419.6	-	13	3235	c.2765C>T	c.(2764-2766)gCc>gTc	p.A922V	RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000575318.1_Missense_Mutation_p.A858V|KANSL1_ENST00000572904.1_Missense_Mutation_p.A922V|KANSL1_ENST00000432791.1_Missense_Mutation_p.A922V|KANSL1_ENST00000393476.3_Missense_Mutation_p.A216V|KANSL1_ENST00000574590.1_Missense_Mutation_p.A922V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	922	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A922V(1)									CTCACATTTGGCATGCAGGGC	0.617																																					p.A922V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2765T	17						.						53.0	52.0	52.0					17																	44110518		2203	4300	6503	41466365	SO:0001583	missense	284058	exon13			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2765C>T	17.37:g.44110518G>A	ENSP00000262419:p.Ala922Val		41466365	NM_015443	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696949	0.88830	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.48522	0.81;0.81;0.81	6.17	6.17	0.99709	.	0.169822	0.53938	D	0.000050	T	0.47691	0.1459	L	0.48642	1.525	0.44890	D	0.9979	P;P;P;P	0.41848	0.763;0.713;0.506;0.557	B;B;B;B	0.43123	0.306;0.409;0.236;0.295	T	0.36696	-0.9737	10	0.42905	T	0.14	-12.5417	15.7989	0.78436	0.0:0.1362:0.8638:0.0	.	190;253;922;922	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	V	922;922;216	ENSP00000262419:A922V;ENSP00000387393:A922V;ENSP00000377117:A216V	ENSP00000262419:A922V	A	-	2	0	KIAA1267	41466365	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.373000	0.59537	2.941000	0.99782	0.655000	0.94253	GCC		0.617	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	
COL1A1	1277	broad.mit.edu	37	17	48263204	48263204	+	Nonsense_Mutation	SNP	C	C	A	rs373474549		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:48263204C>A	ENST00000225964.5	-	50	4301	c.4183G>T	c.(4183-4185)Gag>Tag	p.E1395*		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1395	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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.E1395*(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)	ATCTCGATCTCGTTGGAGCCC	0.627			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.E1395X			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4183T	17						.						80.0	67.0	71.0					17																	48263204		2203	4300	6503	45618203	SO:0001587	stop_gained	1277	exon50			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.4183G>T	17.37:g.48263204C>A	ENSP00000225964:p.Glu1395*		45618203	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Nonsense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	41	9.114592	0.99069	.	.	ENSG00000108821	ENST00000225964	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7598	0.78070	0.0:1.0:0.0:0.0	.	.	.	.	X	1395	.	ENSP00000225964:E1395X	E	-	1	0	COL1A1	45618203	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.559000	0.82265	2.246000	0.74042	0.313000	0.20887	GAG		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
COL1A1	1277	broad.mit.edu	37	17	48263757	48263757	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:48263757T>C	ENST00000225964.5	-	49	4044	c.3926A>G	c.(3925-3927)cAg>cGg	p.Q1309R		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1309	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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.Q1309R(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)	CCAGTTCTTCTGGGCCACACT	0.557			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.Q1309R			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3926G	17						.						191.0	163.0	172.0					17																	48263757		2203	4300	6503	45618756	SO:0001583	missense	1277	exon49			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.3926A>G	17.37:g.48263757T>C	ENSP00000225964:p.Gln1309Arg		45618756	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	.	.	.	.	.	.	.	.	.	.	T	1.640	-0.516812	0.04200	.	.	ENSG00000108821	ENST00000225964	T	0.72505	-0.66	3.93	0.305	0.15801	Fibrillar collagen, C-terminal (3);	0.264599	0.30473	U	0.009553	T	0.26521	0.0648	N	0.00742	-1.23	0.31099	N	0.710619	B	0.02656	0.0	B	0.01281	0.0	T	0.41858	-0.9485	10	0.02654	T	1	.	4.2653	0.10761	0.1544:0.1935:0.0:0.6521	.	1309	P02452	CO1A1_HUMAN	R	1309	ENSP00000225964:Q1309R	ENSP00000225964:Q1309R	Q	-	2	0	COL1A1	45618756	0.896000	0.30565	0.998000	0.56505	0.954000	0.61252	0.258000	0.18387	0.573000	0.29400	0.260000	0.18958	CAG		0.557	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
VPS53	55275	broad.mit.edu	37	17	531358	531358	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:531358C>T	ENST00000571805.1	-	9	937	c.801G>A	c.(799-801)gaG>gaA	p.E267E	VPS53_ENST00000291074.5_Silent_p.E238E|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Silent_p.E267E|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Silent_p.E69E|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	267					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.E238E(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GTACCAGATACTCTGACAGAT	0.353																																					p.E267E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G801A	17						.						149.0	139.0	142.0					17																	531358		2203	4300	6503	478108	SO:0001819	synonymous_variant	55275	exon9				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.801G>A	17.37:g.531358C>T			478108	NM_001128159	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37																																																																																					0.353	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	
COL1A1	1277	broad.mit.edu	37	17	48277267	48277267	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:48277267C>G	ENST00000225964.5	-	2	263	c.145G>C	c.(145-147)Gac>Cac	p.D49H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	49	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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.D49H(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)	ACGTCTCGGTCATGGTACCTG	0.597			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.D49H			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145C	17						.						177.0	168.0	171.0					17																	48277267		2203	4300	6503	45632266	SO:0001583	missense	1277	exon2			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.145G>C	17.37:g.48277267C>G	ENSP00000225964:p.Asp49His		45632266	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	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058834	0.55325	.	.	ENSG00000108821	ENST00000225964	T	0.65364	-0.15	5.59	-1.12	0.09808	von Willebrand factor, type C (3);	0.262271	0.35970	N	0.002868	T	0.51669	0.1688	M	0.62209	1.925	0.25294	N	0.989337	B	0.06786	0.001	B	0.12156	0.007	T	0.47947	-0.9077	10	0.52906	T	0.07	.	6.5788	0.22581	0.0:0.3984:0.1256:0.4759	.	49	P02452	CO1A1_HUMAN	H	49	ENSP00000225964:D49H	ENSP00000225964:D49H	D	-	1	0	COL1A1	45632266	0.118000	0.22208	0.000000	0.03702	0.921000	0.55340	0.680000	0.25306	-0.041000	0.13558	0.555000	0.69702	GAC		0.597	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
SCPEP1	59342	broad.mit.edu	37	17	55062742	55062742	+	Missense_Mutation	SNP	G	G	A	rs201362915		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:55062742G>A	ENST00000262288.3	+	3	284	c.229G>A	c.(229-231)Ggt>Agt	p.G77S	RP5-1107A17.4_ENST00000572877.1_RNA|SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	77					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.G77S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCCATAGGGCGGTCCAGGCGG	0.423																																					p.G77S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	17						.	G	SER/GLY	0,4406		0,0,2203	88.0	83.0	84.0		229	5.6	1.0	17		84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SCPEP1	NM_021626.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	77/453	55062742	1,13005	2203	4300	6503	52417741	SO:0001583	missense	59342	exon3			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.229G>A	17.37:g.55062742G>A	ENSP00000262288:p.Gly77Ser		52417741	NM_021626	Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197248	0.79015	0.0	1.16E-4	ENSG00000121064	ENST00000262288	D	0.92199	-2.99	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98492	1.0610	10	0.87932	D	0	-21.411	19.59	0.95506	0.0:0.0:1.0:0.0	.	77	Q9HB40	RISC_HUMAN	S	77	ENSP00000262288:G77S	ENSP00000262288:G77S	G	+	1	0	SCPEP1	52417741	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	9.080000	0.94040	2.639000	0.89480	0.655000	0.94253	GGT		0.423	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626	
DDX5	1655	broad.mit.edu	37	17	62496750	62496750	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:62496750A>G	ENST00000225792.5	-	12	1759	c.1358T>C	c.(1357-1359)gTg>gCg	p.V453A	MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.V453A|DDX5_ENST00000450599.2_Missense_Mutation_p.V374A	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	453	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.V453A(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AAGGTCGCTCACTTGCTTTAT	0.418			T	ETV4	prostate																																p.V453A	NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1358C	17						.						159.0	141.0	147.0					17																	62496750		2203	4300	6503	59927212	SO:0001583	missense	1655	exon12			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1358T>C	17.37:g.62496750A>G	ENSP00000225792:p.Val453Ala		59927212	NM_004396	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	A	9.040	0.989361	0.18966	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.73	5.73	0.89815	Helicase, C-terminal (1);	0.103387	0.64402	N	0.000003	T	0.23094	0.0558	N	0.01250	-0.93	0.58432	D	0.999997	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.33317	-0.9873	9	0.02654	T	1	-5.3751	16.3123	0.82883	1.0:0.0:0.0:0.0	.	374;453;453	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	A	453;383;442	.	ENSP00000225792:V442A	V	-	2	0	DDX5	59927212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.406000	0.73276	2.308000	0.77769	0.533000	0.62120	GTG		0.418	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	
CACNG1	786	broad.mit.edu	37	17	65040969	65040969	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:65040969G>A	ENST00000226021.3	+	1	264	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	65					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.D65N(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCCCATGGACGACAGCAAGAC	0.657																																					p.D65N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	17						.						60.0	54.0	56.0					17																	65040969		2203	4300	6503	62471431	SO:0001583	missense	786	exon1			L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.193G>A	17.37:g.65040969G>A	ENSP00000226021:p.Asp65Asn		62471431	NM_000727	B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173931	0.38413	.	.	ENSG00000108878	ENST00000226021	T	0.68025	-0.3	5.44	2.58	0.30949	.	0.726137	0.13153	N	0.409709	T	0.55065	0.1897	L	0.38649	1.16	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.50533	-0.8817	10	0.52906	T	0.07	.	10.0821	0.42395	0.3011:0.0:0.6989:0.0	.	65	Q06432	CCG1_HUMAN	N	65	ENSP00000226021:D65N	ENSP00000226021:D65N	D	+	1	0	CACNG1	62471431	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	0.328000	0.19681	0.961000	0.38030	0.591000	0.81541	GAC		0.657	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1		
ABCA8	10351	broad.mit.edu	37	17	66899514	66899514	+	Missense_Mutation	SNP	C	C	T	rs141905033		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:66899514C>T	ENST00000269080.2	-	18	2542	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.R842Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.R842Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	802					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R802Q(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GATTTGCTGTCGCCAGAGAGC	0.433																																					p.R802Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2405A	17						.						146.0	135.0	139.0					17																	66899514		2203	4300	6503	64411109	SO:0001583	missense	10351	exon18			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2405G>A	17.37:g.66899514C>T	ENSP00000269080:p.Arg802Gln		64411109	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656227	0.67586	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.79845	-1.31;-1.31	4.9	0.352	0.16051	.	0.648009	0.13731	N	0.366714	D	0.85609	0.5736	M	0.83118	2.625	0.09310	N	1	D;D;D;D;D	0.69078	0.997;0.985;0.992;0.982;0.992	D;P;P;P;P	0.66497	0.944;0.66;0.797;0.848;0.784	T	0.72584	-0.4249	10	0.29301	T	0.29	.	4.5831	0.12269	0.145:0.4883:0.2828:0.0839	.	781;842;842;842;802	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	Q	802;842;781	ENSP00000269080:R802Q;ENSP00000402814:R842Q	ENSP00000269080:R802Q	R	-	2	0	ABCA8	64411109	0.000000	0.05858	0.004000	0.12327	0.871000	0.50021	0.061000	0.14366	0.269000	0.21961	0.655000	0.94253	CGA		0.433	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
SLC39A11	201266	broad.mit.edu	37	17	71027802	71027802	+	Missense_Mutation	SNP	C	C	T	rs145755722	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:71027802C>T	ENST00000542342.2	-	4	287	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	SLC39A11_ENST00000255559.3_Missense_Mutation_p.A67T|SLC39A11_ENST00000579732.1_Missense_Mutation_p.A67T	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	67					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.A67T(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GAGGACGTGGCCATCTCAACT	0.537																																					p.A67T	NSCLC(95;736 1527 12296 39625 41839)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	17						.						127.0	111.0	117.0					17																	71027802		2203	4300	6503	68539397	SO:0001583	missense	201266	exon4			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.199G>A	17.37:g.71027802C>T	ENSP00000445829:p.Ala67Thr		68539397	NM_001159770	B2R8H7|Q8WZ81	Missense_Mutation	SNP	ENST00000542342.2	37	CCDS54160.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239266	0.79800	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.47869	0.83;0.83	5.09	4.1	0.47936	.	0.058731	0.64402	D	0.000002	T	0.64360	0.2591	M	0.69185	2.1	0.80722	D	1	D;D	0.69078	0.995;0.997	D;P	0.67382	0.951;0.858	T	0.65639	-0.6119	10	0.45353	T	0.12	.	14.4598	0.67440	0.0:0.8522:0.1478:0.0	.	67;67	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	T	67	ENSP00000445829:A67T;ENSP00000255559:A67T	ENSP00000255559:A67T	A	-	1	0	SLC39A11	68539397	1.000000	0.71417	0.991000	0.47740	0.835000	0.47333	6.787000	0.75099	1.121000	0.41925	0.655000	0.94253	GCC		0.537	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1		
USH1G	124590	broad.mit.edu	37	17	72916587	72916587	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:72916587C>T	ENST00000319642.1	-	2	526	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	115					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.R115H(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GTCCAGGTAGCGCACGCATTC	0.627																																					p.R115H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344A	17						.						121.0	88.0	99.0					17																	72916587		2203	4300	6503	70428182	SO:0001583	missense	124590	exon2			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.344G>A	17.37:g.72916587C>T	ENSP00000320076:p.Arg115His		70428182	NM_173477	Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159198	0.78226	.	.	ENSG00000182040	ENST00000319642	T	0.65549	-0.16	3.8	3.8	0.43715	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.52823	1.66	0.80722	D	1	D	0.56746	0.977	P	0.50405	0.64	T	0.73232	-0.4048	10	0.72032	D	0.01	-18.6605	16.2003	0.82067	0.0:1.0:0.0:0.0	.	115	Q495M9	USH1G_HUMAN	H	115	ENSP00000320076:R115H	ENSP00000320076:R115H	R	-	2	0	USH1G	70428182	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.559000	0.82265	2.118000	0.64928	0.313000	0.20887	CGC		0.627	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477	
KIAA0195	9772	broad.mit.edu	37	17	73491041	73491041	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:73491041G>T	ENST00000314256.7	+	20	3048	c.2654G>T	c.(2653-2655)gGt>gTt	p.G885V	KIAA0195_ENST00000375248.5_Missense_Mutation_p.G895V|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.G536V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	885						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACACCCAATGGTGACATGCCT	0.602																																					p.G885V												.	.	0			c.G2654T	17						.						71.0	75.0	74.0					17																	73491041		2203	4300	6503	71002636	SO:0001583	missense	9772	exon20				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2654G>T	17.37:g.73491041G>T	ENSP00000313885:p.Gly885Val		71002636	NM_014738	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	9.661	1.144147	0.21205	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.48201	0.82;0.82	5.66	4.69	0.59074	.	0.107189	0.64402	D	0.000005	T	0.64283	0.2584	L	0.61218	1.895	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	P;D;P	0.67548	0.896;0.952;0.896	T	0.67317	-0.5701	10	0.59425	D	0.04	-18.9231	14.5889	0.68347	0.0701:0.0:0.9299:0.0	.	895;895;885	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	V	885;895	ENSP00000313885:G885V;ENSP00000364397:G895V	ENSP00000313885:G885V	G	+	2	0	KIAA0195	71002636	1.000000	0.71417	0.862000	0.33874	0.221000	0.24807	9.365000	0.97139	1.402000	0.46780	-0.253000	0.11424	GGT		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	
YBX2	51087	broad.mit.edu	37	17	7193616	7193616	+	Missense_Mutation	SNP	C	C	T	rs541565176		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:7193616C>T	ENST00000007699.5	-	5	761	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	233	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)	p.R233Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCGCACAAACCGCCGTCGGTA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15351	0.0		0.001	False		,,,				2504	0.0				p.R233Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G698A	17						.						91.0	111.0	104.0					17																	7193616		2200	4290	6490	7134340	SO:0001583	missense	51087	exon5			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.698G>A	17.37:g.7193616C>T	ENSP00000007699:p.Arg233Gln		7134340	NM_015982	D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080589	0.76528	.	.	ENSG00000006047	ENST00000007699	T	0.24908	1.83	4.73	4.73	0.59995	.	0.077721	0.48767	D	0.000178	T	0.46190	0.1380	L	0.61218	1.895	0.45250	D	0.998258	D	0.76494	0.999	D	0.72625	0.978	T	0.16276	-1.0408	10	0.27082	T	0.32	-13.6292	15.6129	0.76740	0.0:1.0:0.0:0.0	.	233	Q9Y2T7	YBOX2_HUMAN	Q	233	ENSP00000007699:R233Q	ENSP00000007699:R233Q	R	-	2	0	YBX2	7134340	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.902000	0.63266	2.642000	0.89623	0.561000	0.74099	CGG		0.652	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982	
RECQL5	9400	broad.mit.edu	37	17	73623511	73623511	+	Silent	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:73623511G>T	ENST00000317905.5	-	20	3126	c.2967C>A	c.(2965-2967)ccC>ccA	p.P989P	RECQL5_ENST00000423245.2_Silent_p.P962P|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	989					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.P962P(1)		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)			GTCATCTCTGGGGGCCACACA	0.622								Other identified genes with known or suspected DNA repair function																													p.P989P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2967A	17						.						65.0	74.0	71.0					17																	73623511		2022	4172	6194	71135106	SO:0001819	synonymous_variant	9400	exon20			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.2967C>A	17.37:g.73623511G>T			71135106	NM_004259	Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	CCDS42380.1																																																																																				0.622	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
POLR2A	5430	broad.mit.edu	37	17	7400101	7400101	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:7400101C>T	ENST00000322644.6	+	5	955	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	POLR2A_ENST00000572844.1_Missense_Mutation_p.R186W	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	186					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.R186W(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)				TGGCTGTGGGCGGTACCAGCC	0.592																																					p.R186W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C556T	17						.						59.0	61.0	60.0					17																	7400101		2203	4300	6503	7340825	SO:0001583	missense	5430	exon5					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.556C>T	17.37:g.7400101C>T	ENSP00000314949:p.Arg186Trp		7340825	NM_000937	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422233	0.62622	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.23552	1.9	5.34	4.33	0.51752	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.88906	2.99	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.77004	0.935;0.989	T	0.65307	-0.6200	10	0.87932	D	0	-9.6068	14.2885	0.66260	0.1493:0.8506:0.0:0.0	.	186;186	P24928;Q6NX41	RPB1_HUMAN;.	W	142;186	ENSP00000314949:R186W	ENSP00000314949:R186W	R	+	1	2	SLC35G6	7340825	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	2.652000	0.46682	2.504000	0.84457	0.563000	0.77884	CGG		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
TRIM47	91107	broad.mit.edu	37	17	73870957	73870957	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:73870957G>A	ENST00000254816.2	-	6	1550	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	TRIM47_ENST00000587339.1_Silent_p.Y270Y|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	508	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Y508Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCGCGGTCGTAGGGCTCTT	0.657																																					p.Y508Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1524T	17						.						66.0	67.0	67.0					17																	73870957		2203	4300	6503	71382552	SO:0001819	synonymous_variant	91107	exon6			AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1524C>T	17.37:g.73870957G>A			71382552	NM_033452	Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	37	CCDS32737.1																																																																																				0.657	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1		
TNRC6C	57690	broad.mit.edu	37	17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:76082938C>T	ENST00000588061.1	+	15	4293	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	TNRC6C_ENST00000301624.4_Missense_Mutation_p.A1189V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A1189V|TNRC6C_ENST00000335749.4_Missense_Mutation_p.A1186V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A1186V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1189					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A1189V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592																																					p.A1189V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3566T	17						.						103.0	111.0	109.0					17																	76082938		2135	4247	6382	73594533	SO:0001583	missense	57690	exon14			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3566C>T	17.37:g.76082938C>T	ENSP00000468647:p.Ala1189Val		73594533	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286463	0.95517	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.18016	2.24;2.25;2.25;2.24	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.945	T	0.14144	-1.0483	10	0.44086	T	0.13	-10.8602	19.5379	0.95262	0.0:1.0:0.0:0.0	.	1186;1189	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	V	1189;1186;1186;1189;1189;1186	ENSP00000336783:A1186V;ENSP00000301624:A1189V;ENSP00000440310:A1189V;ENSP00000442421:A1186V	ENSP00000301624:A1189V	A	+	2	0	TNRC6C	73594533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.413000	0.80104	2.618000	0.88619	0.591000	0.81541	GCG		0.592	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
TMC8	147138	broad.mit.edu	37	17	76130583	76130583	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:76130583C>A	ENST00000318430.5	+	8	1299	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Missense_Mutation_p.L86M	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	309					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)	p.L309M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAACGGGCTCCTGGTGGTTGG	0.612																																					p.L309M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925A	17						.						52.0	57.0	56.0					17																	76130583		2203	4300	6503	73642178	SO:0001583	missense	147138	exon8			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.925C>A	17.37:g.76130583C>A	ENSP00000325561:p.Leu309Met		73642178	NM_152468	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039639	0.75732	.	.	ENSG00000167895	ENST00000318430	T	0.53857	0.6	4.71	3.72	0.42706	.	0.194996	0.39020	N	0.001492	T	0.71204	0.3312	M	0.82323	2.585	0.39531	D	0.968664	P;D	0.89917	0.946;1.0	P;D	0.85130	0.79;0.997	T	0.74621	-0.3604	10	0.46703	T	0.11	-13.6683	11.1177	0.48270	0.0:0.9047:0.0:0.0953	.	309;309	A5D8Y4;Q8IU68	.;TMC8_HUMAN	M	309	ENSP00000325561:L309M	ENSP00000325561:L309M	L	+	1	2	TMC8	73642178	0.573000	0.26676	1.000000	0.80357	0.944000	0.59088	0.825000	0.27393	2.161000	0.67846	0.561000	0.74099	CTG		0.612	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3		
SLC26A11	284129	broad.mit.edu	37	17	78199641	78199641	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:78199641G>A	ENST00000361193.3	+	6	799	c.519G>A	c.(517-519)ctG>ctA	p.L173L	SLC26A11_ENST00000572725.1_Silent_p.L173L|SLC26A11_ENST00000411502.3_Silent_p.L173L|SLC26A11_ENST00000546047.2_Silent_p.L173L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11									p.L173L(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACAGAACCTGCTGGGACTAC	0.592																																					p.L173L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	17						.						193.0	156.0	169.0					17																	78199641		2203	4300	6503	75814236	SO:0001819	synonymous_variant	284129	exon5				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.519G>A	17.37:g.78199641G>A			75814236	NM_001166349		Silent	SNP	ENST00000361193.3	37	CCDS11771.2																																																																																				0.592	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1		
GEMIN4	50628	broad.mit.edu	37	17	650982	650984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	CCA	CCA	CCA	-	CCA	CCA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:650982_650984delCCA	ENST00000319004.5	-	2	417_419	c.299_301delTGG	c.(298-303)gtgggc>ggc	p.V100del	GEMIN4_ENST00000437269.1_In_Frame_Del_p.V100del|GEMIN4_ENST00000576778.1_In_Frame_Del_p.V89del	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	100					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.V100delV(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ATCATGTTGCCCACCGAGAAGAA	0.576																																					p.100_101del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.299_301del	17						.																																			597734	SO:0001651	inframe_deletion	50628	exon2			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.299_301delTGG	17.37:g.650982_650984delCCA	ENSP00000321706:p.Val100del		597732	NM_015721	Q9NZS7|Q9UG32|Q9Y4Q2	In_Frame_Del	DEL	ENST00000319004.5	37	CCDS45559.1																																																																																				0.576	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721	
DVL2	1856	broad.mit.edu	37	17	7129594	7129594	+	Frame_Shift_Del	DEL	C	C	-	rs370880170		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:7129594delC	ENST00000005340.5	-	15	2083	c.1801delG	c.(1801-1803)gcafs	p.A601fs	MIR324_ENST00000362183.1_RNA|DVL2_ENST00000575458.1_Frame_Shift_Del_p.A595fs|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	601					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.A601fs*80(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTGCGCCCTGCCCCCCCATCA	0.726																																					p.A601fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1801delG	17						.						19.0	24.0	22.0					17																	7129594		2192	4258	6450	7070318	SO:0001589	frameshift_variant	1856	exon15			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.1801delG	17.37:g.7129594delC	ENSP00000005340:p.Ala601fs		7070318	NM_004422	D3DTN3|Q53XM0	Frame_Shift_Del	DEL	ENST00000005340.5	37	CCDS11091.1																																																																																				0.726	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
ALOXE3	59344	broad.mit.edu	37	17	8011867	8011867	+	Missense_Mutation	SNP	C	C	T	rs144996877	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:8011867C>T	ENST00000448843.2	-	13	1943	c.1603G>A	c.(1603-1605)Gca>Aca	p.A535T	ALOXE3_ENST00000318227.3_Missense_Mutation_p.A667T|ALOXE3_ENST00000380149.1_Missense_Mutation_p.A691T	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	535	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				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)	p.A535T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGCACAGATGCGTCACTGGGA	0.557																																					p.A667T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1999A	17						.						82.0	77.0	78.0					17																	8011867		2203	4300	6503	7952592	SO:0001583	missense	59344	exon13			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.1603G>A	17.37:g.8011867C>T	ENSP00000400581:p.Ala535Thr		7952592	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426258	0.25726	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89810	-2.57;-2.57;-2.57	4.85	0.298	0.15766	Lipoxygenase, C-terminal (3);	0.736920	0.13024	N	0.419840	T	0.77418	0.4127	N	0.21448	0.665	0.09310	N	1	B;B;B	0.29805	0.257;0.014;0.014	B;B;B	0.23150	0.044;0.015;0.015	T	0.60777	-0.7196	10	0.18276	T	0.48	0.1921	10.1166	0.42593	0.0:0.6603:0.0:0.3397	.	667;535;535	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	T	691;667;535	ENSP00000369494:A691T;ENSP00000314879:A667T;ENSP00000400581:A535T	ENSP00000314879:A667T	A	-	1	0	ALOXE3	7952592	0.000000	0.05858	0.001000	0.08648	0.701000	0.40568	-1.645000	0.02000	0.255000	0.21593	0.563000	0.77884	GCA		0.557	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
PFAS	5198	broad.mit.edu	37	17	8172524	8172524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:8172524C>T	ENST00000314666.6	+	28	4092	c.3959C>T	c.(3958-3960)tCc>tTc	p.S1320F	PFAS_ENST00000545834.1_Missense_Mutation_p.S896F	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1320					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.S1320F(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTGACCACCTCCCCCTGGCTC	0.622																																					p.S1320F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3959T	17						.						41.0	41.0	41.0					17																	8172524		2203	4300	6503	8113249	SO:0001583	missense	5198	exon28			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3959C>T	17.37:g.8172524C>T	ENSP00000313490:p.Ser1320Phe		8113249	NM_012393	A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677569	0.88445	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.39997	1.05;1.76	5.46	5.46	0.80206	Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78066	-0.2349	10	0.87932	D	0	-24.1534	16.8081	0.85711	0.0:1.0:0.0:0.0	.	1320	O15067	PUR4_HUMAN	F	896;1320;729	ENSP00000441706:S896F;ENSP00000313490:S1320F	ENSP00000313490:S1320F	S	+	2	0	PFAS	8113249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.050000	0.76620	2.544000	0.85801	0.655000	0.94253	TCC		0.622	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2		
PIK3R5	23533	broad.mit.edu	37	17	8784028	8784028	+	Silent	SNP	C	C	T	rs374903590		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:8784028C>T	ENST00000447110.1	-	19	2695	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P	PIK3R5_ENST00000584803.1_Silent_p.P856P|PIK3R5_ENST00000581552.1_Silent_p.P857P	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	857					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.P857P(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGCCTGGGCCGGCAGGTCAG	0.637																																					p.P857P	NSCLC(18;589 615 7696 20311 50332)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G2571A	17						.	C	,	0,4406		0,0,2203	78.0	72.0	74.0		2571,2571	-7.4	0.0	17		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PIK3R5	NM_001142633.1,NM_014308.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	857/881,857/881	8784028	1,13005	2203	4300	6503	8724753	SO:0001819	synonymous_variant	23533	exon19			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2571G>A	17.37:g.8784028C>T			8724753	NM_014308	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																				0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
DHRS7C	201140	broad.mit.edu	37	17	9694580	9694580	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:9694580T>C	ENST00000330255.5	-	1	34	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	RP11-477N12.3_ENST00000609065.1_5'UTR|DHRS7C_ENST00000571134.1_Missense_Mutation_p.M8V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	8					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.M8V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						AGGGGGAGCATCAGCATGGCC	0.562																																					p.M8V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A22G	17						.						38.0	38.0	38.0					17																	9694580		2018	4184	6202	9635305	SO:0001583	missense	201140	exon1				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.22A>G	17.37:g.9694580T>C	ENSP00000327975:p.Met8Val		9635305	NM_001105571	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	T	0.492	-0.875027	0.02550	.	.	ENSG00000184544	ENST00000330255	D	0.85411	-1.98	5.95	-0.306	0.12780	.	0.468655	0.26711	N	0.022894	T	0.60196	0.2250	N	0.08118	0	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43940	-0.9360	10	0.11485	T	0.65	.	2.2501	0.04041	0.1138:0.1974:0.1182:0.5705	.	8;5	A6NNS2;B9EJH3	DRS7C_HUMAN;.	V	8	ENSP00000327975:M8V	ENSP00000327975:M8V	M	-	1	0	DHRS7C	9635305	0.023000	0.18921	0.063000	0.19743	0.074000	0.17049	-0.029000	0.12329	-0.060000	0.13132	-0.311000	0.09066	ATG		0.562	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912	
GAS7	8522	broad.mit.edu	37	17	9923134	9923134	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:9923134C>T	ENST00000432992.2	-	2	424	c.264G>A	c.(262-264)tcG>tcA	p.S88S	GAS7_ENST00000540214.1_Silent_p.S24S|GAS7_ENST00000585266.1_Silent_p.S28S|GAS7_ENST00000323816.4_Silent_p.S28S|GAS7_ENST00000396115.2_Silent_p.S24S|GAS7_ENST00000579158.1_Silent_p.S24S|GAS7_ENST00000437099.2_Silent_p.S24S|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000542249.1_Silent_p.S24S	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	88	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S88S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GGCCCTGAGGCGACAGGTAGC	0.597			T	MLL	AML*																																p.S28S			Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G84A	17						.						56.0	58.0	57.0					17																	9923134		2203	4300	6503	9863859	SO:0001819	synonymous_variant	8522	exon2			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.264G>A	17.37:g.9923134C>T			9863859	NM_201432	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	CCDS11152.1																																																																																				0.597	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
JUP	3728	broad.mit.edu	37	17	39912059	39912059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:39912059delG	ENST00000393931.3	-	14	2293	c.2175delC	c.(2173-2175)cccfs	p.P725fs	JUP_ENST00000393930.1_Frame_Shift_Del_p.P725fs|JUP_ENST00000310706.5_Frame_Shift_Del_p.P725fs|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	725					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.I726fs*>20(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGGTGTCGATGGGGTAGTCTC	0.632																																					p.P725fs	Colon(16;42 520 6044 17852 28530)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2175delC	17						.						90.0	81.0	84.0					17																	39912059		2203	4300	6503	37165585	SO:0001589	frameshift_variant	3728	exon14			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2175delC	17.37:g.39912059delG	ENSP00000377508:p.Pro725fs		37165585	NM_021991	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Frame_Shift_Del	DEL	ENST00000393931.3	37	CCDS11407.1																																																																																				0.632	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		
LRRC37A3	374819	broad.mit.edu	37	17	62856352	62856352	+	Frame_Shift_Del	DEL	T	T	-	rs201012072		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:62856352delT	ENST00000584306.1	-	11	4442	c.3912delA	c.(3910-3912)aaafs	p.K1304fs	LRRC37A3_ENST00000334962.5_Frame_Shift_Del_p.K281fs|LRRC37A3_ENST00000400877.3_Frame_Shift_Del_p.K342fs|LRRC37A3_ENST00000319651.5_Frame_Shift_Del_p.K1304fs|LRRC37A3_ENST00000339474.5_Frame_Shift_Del_p.K422fs	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1304						integral component of membrane (GO:0016021)		p.K1304fs*11(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAAAGCGGTATTTTTTTCTGG	0.408																																					p.K1304fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3912delA	17						.						236.0	239.0	238.0					17																	62856352		2203	4300	6503	60286814	SO:0001589	frameshift_variant	374819	exon11			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3912delA	17.37:g.62856352delT	ENSP00000464535:p.Lys1304fs		60286814	NM_199340	Q49A01|Q49A80|Q8NB33	Frame_Shift_Del	DEL	ENST00000584306.1	37	CCDS32708.1																																																																																				0.408	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340	
RPTOR	57521	broad.mit.edu	37	17	78857631	78857631	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:78857631C>T	ENST00000306801.3	+	16	2063	c.1701C>T	c.(1699-1701)aaC>aaT	p.N567N	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	567					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.N567N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGCAGCTCAACGACCCGCACC	0.652																																					p.N567N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1701T	17						.						83.0	77.0	79.0					17																	78857631		2203	4300	6503	76472226	SO:0001819	synonymous_variant	57521	exon16				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1701C>T	17.37:g.78857631C>T			76472226	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	CCDS11773.1																																																																																				0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
TMEM105	284186	broad.mit.edu	37	17	79287703	79287703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr17:79287703delG	ENST00000332900.1	-	3	687	c.138delC	c.(136-138)cccfs	p.P46fs		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	46						integral component of membrane (GO:0016021)		p.T47fs*31(1)		NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GCAGCAGGGTGGGGGGCCGGA	0.587																																					p.P46fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.138delC	17						.						37.0	45.0	43.0					17																	79287703		2195	4289	6484	76902298	SO:0001589	frameshift_variant	284186	exon3			AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.138delC	17.37:g.79287703delG	ENSP00000329795:p.Pro46fs		76902298	NM_178520		Frame_Shift_Del	DEL	ENST00000332900.1	37	CCDS11781.1																																																																																				0.587	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520	
LRRC30	339291	broad.mit.edu	37	18	7231574	7231575	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:7231574_7231575insT	ENST00000383467.2	+	1	452_453	c.438_439insT	c.(439-441)ttgfs	p.L147fs		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	147								p.L147fs*18(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGGTCCTGAGCTTGTCGCACAA	0.569																																					p.S146fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.438_439insT	18						.																																			7221575	SO:0001589	frameshift_variant	339291	exon1				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.440dupT	18.37:g.7231576_7231576dupT	ENSP00000372959:p.Leu147fs		7221574	NM_001105581		Frame_Shift_Ins	INS	ENST00000383467.2	37	CCDS42409.1																																																																																				0.569	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
CEP192	55125	broad.mit.edu	37	18	13056463	13056463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:13056463G>T	ENST00000325971.8	+	17	3679	c.2086G>T	c.(2086-2088)Gga>Tga	p.G696*	CEP192_ENST00000506447.1_Nonsense_Mutation_p.G1292*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.G817*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	696					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.G1292*(1)|p.G696*(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGCTTCTCAGGAGGCCTTCC	0.537																																					p.G1292X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3874T	18						.						80.0	72.0	75.0					18																	13056463		2203	4300	6503	13046463	SO:0001587	stop_gained	55125	exon19			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2086G>T	18.37:g.13056463G>T	ENSP00000317156:p.Gly696*		13046463	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	35	5.528902	0.96446	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	5.24	5.24	0.73138	.	0.366841	0.23648	N	0.045947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-11.4949	8.8295	0.35076	0.0762:0.0:0.774:0.1498	.	.	.	.	X	1292;696;696;817	.	ENSP00000317156:G696X	G	+	1	0	CEP192	13046463	0.817000	0.29147	0.095000	0.20976	0.188000	0.23474	2.796000	0.47869	2.448000	0.82819	0.655000	0.94253	GGA		0.537	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
MC2R	4158	broad.mit.edu	37	18	13885243	13885243	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:13885243A>C	ENST00000327606.3	-	2	455	c.275T>G	c.(274-276)cTc>cGc	p.L92R		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	92					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.L92R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACGTGGCTTGAGATAGCCCAT	0.453																																					p.L92R	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T275G	18						.						125.0	103.0	111.0					18																	13885243		2203	4300	6503	13875243	SO:0001583	missense	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.275T>G	18.37:g.13885243A>C	ENSP00000333821:p.Leu92Arg		13875243	NM_000529	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411623	0.42817	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;D	0.87179	1.51;-2.22	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.074940	0.56097	D	0.000032	D	0.94324	0.8176	M	0.91872	3.25	0.44798	D	0.997809	D	0.89917	1.0	D	0.72075	0.976	D	0.95478	0.8558	10	0.87932	D	0	.	14.0525	0.64747	1.0:0.0:0.0:0.0	.	92	Q01718	ACTHR_HUMAN	R	92	ENSP00000333821:L92R;ENSP00000382718:L92R	ENSP00000333821:L92R	L	-	2	0	MC2R	13875243	1.000000	0.71417	0.769000	0.31535	0.301000	0.27625	8.521000	0.90569	1.783000	0.52377	0.528000	0.53228	CTC		0.453	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
AQP4	361	broad.mit.edu	37	18	24442285	24442285	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:24442285G>A	ENST00000383168.4	-	2	436	c.308C>T	c.(307-309)gCc>gTc	p.A103V	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.A81V|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'Flank|AQP4_ENST00000440832.3_Missense_Mutation_p.A81V	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	103					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.A103V(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GCACACCATGGCCACAGTCAC	0.547																																					p.A103V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308T	18						.						108.0	91.0	96.0					18																	24442285		2203	4300	6503	22696283	SO:0001583	missense	361	exon2			U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.308C>T	18.37:g.24442285G>A	ENSP00000372654:p.Ala103Val		22696283	NM_001650	P78564	Missense_Mutation	SNP	ENST00000383168.4	37	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828555	0.90955	.	.	ENSG00000171885	ENST00000383168;ENST00000383170	D	0.89681	-2.55	5.57	5.57	0.84162	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97318	0.9942	10	0.87932	D	0	.	19.5458	0.95297	0.0:0.0:1.0:0.0	.	103	P55087	AQP4_HUMAN	V	103;110	ENSP00000372654:A103V	ENSP00000372654:A103V	A	-	2	0	AQP4	22696283	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.860000	0.99555	2.614000	0.88457	0.462000	0.41574	GCC		0.547	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028	
SMCHD1	23347	broad.mit.edu	37	18	2775769	2775769	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:2775769C>T	ENST00000320876.6	+	42	5551	c.5213C>T	c.(5212-5214)gCg>gTg	p.A1738V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A1738V|RP11-703M24.5_ENST00000583546.1_RNA|snoU13_ENST00000459147.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1738					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.A1738V(2)|p.A1186V(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATAGAGCTGCGATGGTTATT	0.368																																					p.A1738V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C5213T	18						.						96.0	90.0	92.0					18																	2775769		1891	4116	6007	2765769	SO:0001583	missense	23347	exon42			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.5213C>T	18.37:g.2775769C>T	ENSP00000326603:p.Ala1738Val		2765769	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227814	0.95173	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.86366	-2.11;-2.11	5.28	5.28	0.74379	SMCs flexible hinge (3);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	L	0.54323	1.7	0.46774	D	0.999197	D	0.89917	1.0	D	0.91635	0.999	D	0.92661	0.6141	10	0.72032	D	0.01	-16.8948	19.2786	0.94042	0.0:1.0:0.0:0.0	.	1738	A6NHR9	SMHD1_HUMAN	V	1738	ENSP00000326603:A1738V;ENSP00000261598:A1738V	ENSP00000261598:A1738V	A	+	2	0	SMCHD1	2765769	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.563000	0.73964	2.633000	0.89246	0.591000	0.81541	GCG		0.368	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG1	1828	broad.mit.edu	37	18	28913597	28913597	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:28913597G>T	ENST00000257192.4	+	7	942	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	244	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.G244C(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGACCGAGATGGCGGGGCAGA	0.428																																					p.G244C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730T	18						.						139.0	126.0	131.0					18																	28913597		2203	4300	6503	27167595	SO:0001583	missense	1828	exon7			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.730G>T	18.37:g.28913597G>T	ENSP00000257192:p.Gly244Cys		27167595	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443938	0.63067	.	.	ENSG00000134760	ENST00000257192	T	0.54279	0.58	5.82	5.82	0.92795	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.83229	0.5209	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88227	0.2901	10	0.87932	D	0	.	20.088	0.97803	0.0:0.0:1.0:0.0	.	244	Q02413	DSG1_HUMAN	C	244	ENSP00000257192:G244C	ENSP00000257192:G244C	G	+	1	0	DSG1	27167595	1.000000	0.71417	0.959000	0.39883	0.136000	0.21042	7.188000	0.77739	2.739000	0.93911	0.655000	0.94253	GGC		0.428	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
FHOD3	80206	broad.mit.edu	37	18	34156485	34156485	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:34156485C>A	ENST00000359247.4	+	6	583	c.583C>A	c.(583-585)Ctg>Atg	p.L195M	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000257209.4_Missense_Mutation_p.L195M|FHOD3_ENST00000445677.1_Missense_Mutation_p.L195M|FHOD3_ENST00000590592.1_Missense_Mutation_p.L195M	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	195	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.L195M(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CATTCAGTGGCTGTACACTCT	0.393																																					p.L195M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583A	18						.						133.0	118.0	123.0					18																	34156485		2203	4300	6503	32410483	SO:0001583	missense	80206	exon6			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.583C>A	18.37:g.34156485C>A	ENSP00000352186:p.Leu195Met		32410483	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	26.1	4.706970	0.89018	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.27256	1.68;1.68;1.68	5.73	5.73	0.89815	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.83223	2.63	0.52501	D	0.999956	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.998;0.999;0.995	T	0.60806	-0.7190	10	0.87932	D	0	.	17.3817	0.87406	0.0:1.0:0.0:0.0	.	195;195;195	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	M	195	ENSP00000257209:L195M;ENSP00000352186:L195M;ENSP00000411430:L195M	ENSP00000257209:L195M	L	+	1	2	FHOD3	32410483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.434000	0.80377	2.694000	0.91930	0.655000	0.94253	CTG		0.393	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FHOD3	80206	broad.mit.edu	37	18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:34205579C>T	ENST00000359247.4	+	10	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000257209.4_Missense_Mutation_p.R355W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W|FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	355	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.R355W(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGCGAGCACCGGGGCCTGGA	0.697																																					p.R355W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063T	18						.						44.0	49.0	47.0					18																	34205579		2203	4299	6502	32459577	SO:0001583	missense	80206	exon10			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1063C>T	18.37:g.34205579C>T	ENSP00000352186:p.Arg355Trp		32459577	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056169	0.76074	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.35236	1.33;1.33;1.32	5.28	5.28	0.74379	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.269957	0.36167	N	0.002746	T	0.44891	0.1315	L	0.58101	1.795	0.32709	N	0.51179	D;D;D;D	0.71674	0.986;0.994;0.994;0.998	P;P;P;P	0.51657	0.471;0.614;0.502;0.676	T	0.61554	-0.7039	10	0.87932	D	0	.	11.5603	0.50772	0.1781:0.8219:0.0:0.0	.	355;355;355;355	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	W	355	ENSP00000257209:R355W;ENSP00000352186:R355W;ENSP00000411430:R355W	ENSP00000257209:R355W	R	+	1	2	FHOD3	32459577	1.000000	0.71417	0.114000	0.21550	0.842000	0.47809	3.935000	0.56560	2.469000	0.83416	0.655000	0.94253	CGG		0.697	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
ST8SIA5	29906	broad.mit.edu	37	18	44268862	44268862	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:44268862C>T	ENST00000315087.7	-	4	992	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.C80Y|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.C147Y	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	111					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.C111Y(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGGGGCGTTGCAGCACCTGGA	0.562																																					p.C111Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	18						.						109.0	93.0	99.0					18																	44268862		2203	4300	6503	42522860	SO:0001583	missense	29906	exon4			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.332G>A	18.37:g.44268862C>T	ENSP00000321343:p.Cys111Tyr		42522860	NM_013305	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534595	0.85812	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.47177	0.85;0.85;1.46	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.63843	1.955	0.80722	D	1	D;P;D	0.76494	0.998;0.613;0.999	D;B;D	0.67103	0.949;0.358;0.926	T	0.64786	-0.6325	10	0.44086	T	0.13	.	19.345	0.94359	0.0:1.0:0.0:0.0	.	80;147;111	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	Y	111;147;80	ENSP00000321343:C111Y;ENSP00000445492:C147Y;ENSP00000443683:C80Y	ENSP00000321343:C111Y	C	-	2	0	ST8SIA5	42522860	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.463000	0.80869	2.578000	0.87016	0.555000	0.69702	TGC		0.562	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
ZBTB7C	201501	broad.mit.edu	37	18	45566605	45566605	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:45566605C>T	ENST00000588982.1	-	3	1375	c.874G>A	c.(874-876)Gag>Aag	p.E292K	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E292K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E292K|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E292K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E292K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	292							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E292K(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCTTCTCCTCCTCCTTGATC	0.622																																					p.E292K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874A	18						.						35.0	41.0	38.0					18																	45566605		2200	4299	6499	43820603	SO:0001583	missense	201501	exon2			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.874G>A	18.37:g.45566605C>T	ENSP00000468782:p.Glu292Lys		43820603	NM_001039360	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403233	0.83230	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.11604	2.76;2.76	5.34	5.34	0.76211	.	0.310463	0.35291	N	0.003313	T	0.19685	0.0473	L	0.27053	0.805	0.58432	D	0.999996	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.06356	-1.0831	10	0.08599	T	0.76	.	19.0131	0.92882	0.0:1.0:0.0:0.0	.	292;292	B2RG49;A1YPR0	.;ZBT7C_HUMAN	K	292	ENSP00000439781:E292K;ENSP00000328732:E292K	ENSP00000328732:E292K	E	-	1	0	ZBTB7C	43820603	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.786000	0.85741	2.491000	0.84063	0.561000	0.74099	GAG		0.622	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360	
CFAP53	220136	broad.mit.edu	37	18	47777979	47777979	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:47777979C>T	ENST00000398545.4	-	4	766	c.649G>A	c.(649-651)Gcc>Acc	p.A217T		NM_145020.3	NP_659457.2												p.A217T(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCCTCTTGGGCTTCTCGCTTT	0.532																																					p.A217T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649A	18						.						169.0	171.0	171.0					18																	47777979		2049	4175	6224	46031977	SO:0001583	missense	220136	exon4																														ENST00000398545.4:c.649G>A	18.37:g.47777979C>T	ENSP00000381553:p.Ala217Thr		46031977	NM_145020		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153085	0.78001	.	.	ENSG00000172361	ENST00000398545	T	0.09445	2.98	5.32	5.32	0.75619	.	0.293681	0.32578	N	0.005917	T	0.24314	0.0589	L	0.59436	1.845	0.37337	D	0.910236	D	0.64830	0.994	P	0.59056	0.851	T	0.05209	-1.0899	10	0.20519	T	0.43	-0.1577	16.5082	0.84278	0.0:1.0:0.0:0.0	.	217	Q96M91	CCD11_HUMAN	T	217	ENSP00000381553:A217T	ENSP00000381553:A217T	A	-	1	0	CCDC11	46031977	0.496000	0.26059	0.994000	0.49952	0.745000	0.42441	1.264000	0.33015	2.493000	0.84123	0.655000	0.94253	GCC		0.532	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3		
MAPK4	5596	broad.mit.edu	37	18	48190346	48190346	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:48190346C>T	ENST00000400384.2	+	2	1054	c.18C>T	c.(16-18)gaC>gaT	p.D6D	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Silent_p.D6D|MAPK4_ENST00000592595.1_Silent_p.D6D	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	6					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.D6D(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGAAGGGTGACTGCATCGCCA	0.602																																					p.D6D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C18T	18						.						87.0	90.0	89.0					18																	48190346		2075	4202	6277	46444344	SO:0001819	synonymous_variant	5596	exon2			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.18C>T	18.37:g.48190346C>T			46444344	NM_002747	A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	CCDS42437.1																																																																																				0.602	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747	
ZNF532	55205	broad.mit.edu	37	18	56601689	56601689	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:56601689C>A	ENST00000336078.4	+	5	3147	c.2371C>A	c.(2371-2373)Ctg>Atg	p.L791M	ZNF532_ENST00000591230.1_Missense_Mutation_p.L791M|ZNF532_ENST00000589288.1_Missense_Mutation_p.L791M|ZNF532_ENST00000591808.1_Missense_Mutation_p.L791M|ZNF532_ENST00000591083.1_Missense_Mutation_p.L791M	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	791					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.L791M(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGCCAGATGCTGCTTCCTAA	0.478																																					p.L791M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2371A	18						.						169.0	141.0	151.0					18																	56601689		2203	4300	6503	54752669	SO:0001583	missense	55205	exon5			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2371C>A	18.37:g.56601689C>A	ENSP00000338217:p.Leu791Met		54752669	NM_018181	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018301	0.54576	.	.	ENSG00000074657	ENST00000336078	T	0.32753	1.44	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	N	0.16656	0.425	0.48830	D	0.999715	D	0.89917	1.0	D	0.87578	0.998	T	0.08186	-1.0734	10	0.27082	T	0.32	-1.5751	13.6158	0.62108	0.0:0.9247:0.0:0.0753	.	791	Q9HCE3	ZN532_HUMAN	M	791	ENSP00000338217:L791M	ENSP00000338217:L791M	L	+	1	2	ZNF532	54752669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.276000	0.51646	2.724000	0.93272	0.561000	0.74099	CTG		0.478	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181	
ZCCHC2	54877	broad.mit.edu	37	18	60217585	60217585	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:60217585C>G	ENST00000269499.5	+	5	1623	c.1205C>G	c.(1204-1206)cCa>cGa	p.P402R	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P81R	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	402						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.P402R(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						TTCTAGCTTCCAAAGGAACTG	0.403																																					p.P402R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1205G	18						.						90.0	78.0	82.0					18																	60217585		1852	4090	5942	58368565	SO:0001583	missense	54877	exon5			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.1205C>G	18.37:g.60217585C>G	ENSP00000269499:p.Pro402Arg		58368565	NM_017742	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329793	0.60743	.	.	ENSG00000141664	ENST00000269499	T	0.03607	3.87	5.72	5.72	0.89469	Phox homologous domain (2);	0.164006	0.42821	D	0.000658	T	0.17577	0.0422	L	0.61218	1.895	0.52099	D	0.999948	D	0.89917	1.0	D	0.87578	0.998	T	0.00016	-1.2388	10	0.72032	D	0.01	-6.8621	18.6654	0.91488	0.0:1.0:0.0:0.0	.	402	Q9C0B9	ZCHC2_HUMAN	R	402	ENSP00000269499:P402R	ENSP00000269499:P402R	P	+	2	0	ZCCHC2	58368565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.933000	0.63484	2.695000	0.91970	0.655000	0.94253	CCA		0.403	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742	
CEP76	79959	broad.mit.edu	37	18	12699829	12699829	+	Splice_Site	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:12699829delT	ENST00000262127.2	-	3	520	c.295delA	c.(295-297)act>ct	p.T99fs	PSMG2_ENST00000317615.6_5'Flank|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Splice_Site_p.S99fs|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	99					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.T99fs*90(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATATACATACTTTTTTTTAAT	0.318																																					p.T99fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.295delA	18						.						19.0	20.0	20.0					18																	12699829		2199	4282	6481	12689829	SO:0001630	splice_region_variant	79959	exon3			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.295+1A>-	18.37:g.12699829delT			12689829	NM_024899	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Frame_Shift_Del	DEL	ENST00000262127.2	37	CCDS11861.1																																																																																				0.318	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	Frame_Shift_Del
EPG5	57724	broad.mit.edu	37	18	43456229	43456230	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:43456229_43456230delAC	ENST00000282041.5	-	35	6054_6055	c.6020_6021delGT	c.(6019-6021)tgtfs	p.C2007fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2007					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.C2007fs*2(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTGAGTCAATACAGTCAGTGAA	0.441																																					p.2007_2007del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.6020_6021del	18						.																																			41710228	SO:0001589	frameshift_variant	57724	exon35			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6020_6021delGT	18.37:g.43456229_43456230delAC	ENSP00000282041:p.Cys2007fs		41710227	NM_020964	A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	ENST00000282041.5	37	CCDS11926.2																																																																																				0.441	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
PIGN	23556	broad.mit.edu	37	18	59757740	59757741	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:59757740_59757741delAG	ENST00000357637.5	-	24	2666_2667	c.2251_2252delCT	c.(2251-2253)ctafs	p.L751fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.L751fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	751					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.L751fs*8(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				AGATTGTTGTAGAGTTTCTTGT	0.351																																					p.751_751del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2251_2252del	18						.																																			57908721	SO:0001589	frameshift_variant	23556	exon24			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2251_2252delCT	18.37:g.59757742_59757743delAG	ENSP00000350263:p.Leu751fs		57908720	NM_176787	Q7L8F8|Q8TC01|Q9NT05	Frame_Shift_Del	DEL	ENST00000357637.5	37	CCDS45879.1																																																																																				0.351	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787	
ZNF407	55628	broad.mit.edu	37	18	72775185	72775185	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr18:72775185G>A	ENST00000299687.5	+	8	5508	c.5508G>A	c.(5506-5508)gcG>gcA	p.A1836A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1836					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.A1836A(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCTTCACCGCGGCGGCCTTGG	0.617																																					p.A1836A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5508A	18						.						89.0	104.0	99.0					18																	72775185		2066	4195	6261	70904173	SO:0001819	synonymous_variant	55628	exon8			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5508G>A	18.37:g.72775185G>A			70904173	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																				0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
TMPRSS9	360200	broad.mit.edu	37	19	2418094	2418095	+	Frame_Shift_Ins	INS	-	-	A	rs576958543		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:2418094_2418095insA	ENST00000332578.3	+	12	2010_2011	c.2010_2011insA	c.(2011-2013)atcfs	p.I671fs		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	671	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.I671fs*16(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CAGACCGCATGATCTGCGCAGG	0.55																																					p.M670fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2010_2011insA	19						.																																			2369095	SO:0001589	frameshift_variant	360200	exon12			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2011dupA	19.37:g.2418095_2418095dupA	ENSP00000330264:p.Ile671fs		2369094	NM_182973	Q6ZND6|Q7Z411	Frame_Shift_Ins	INS	ENST00000332578.3	37	CCDS12088.1																																																																																				0.550	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	
MIA	8190	broad.mit.edu	37	19	41281531	41281532	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:41281531_41281532insA	ENST00000263369.3	+	1	250_251	c.84_85insA	c.(85-87)aagfs	p.K29fs	RAB4B_ENST00000594800.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|MIA_ENST00000597784.1_Frame_Shift_Ins_p.K29fs|MIA_ENST00000594436.1_Frame_Shift_Ins_p.K29fs|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA-RAB4B_ENST00000600729.1_Frame_Shift_Ins_p.K29fs	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	29					cell proliferation (GO:0008283)	extracellular space (GO:0005615)		p.L30fs*3(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		GTCCTATGCCCAAGCTGGCTGA	0.619																																					p.P28fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.84_85insA	19						.																																			45973372	SO:0001589	frameshift_variant	8190	exon1			X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.86dupA	19.37:g.41281533_41281533dupA	ENSP00000263369:p.Lys29fs		45973371	NM_006533	Q6FHV3	Frame_Shift_Ins	INS	ENST00000263369.3	37	CCDS12566.1																																																																																				0.619	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1		
ABCA7	10347	broad.mit.edu	37	19	1062246	1062246	+	Silent	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:1062246G>T	ENST00000263094.6	+	42	5877	c.5646G>T	c.(5644-5646)ctG>ctT	p.L1882L	ABCA7_ENST00000435683.2_Silent_p.L1744L|ABCA7_ENST00000433129.1_Silent_p.L1882L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1882	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L1882L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAGCTGCTGACGGGCCGCG	0.697																																					p.L1882L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5646T	19						.						105.0	113.0	110.0					19																	1062246		2203	4299	6502	1013246	SO:0001819	synonymous_variant	10347	exon42			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5646G>T	19.37:g.1062246G>T			1013246	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																				0.697	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
ICAM1	3383	broad.mit.edu	37	19	10385645	10385645	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:10385645T>C	ENST00000264832.3	+	2	597	c.272T>C	c.(271-273)aTg>aCg	p.M91T	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	91	Ig-like C2-type 1.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.M91T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGCCAACCAATGTGCTATTCA	0.527																																					p.M91T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T272C	19						.						137.0	131.0	133.0					19																	10385645		2203	4300	6503	10246645	SO:0001583	missense	3383	exon2				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.272T>C	19.37:g.10385645T>C	ENSP00000264832:p.Met91Thr		10246645	NM_000201	B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984344	0.35036	.	.	ENSG00000090339	ENST00000264832	T	0.14266	2.52	4.46	0.882	0.19172	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	1.803500	0.03911	N	0.281935	T	0.14917	0.0360	N	0.22421	0.69	0.20074	N	0.999939	B	0.25850	0.136	B	0.40677	0.337	T	0.47394	-0.9121	10	0.72032	D	0.01	-0.1035	4.4317	0.11531	0.3536:0.0:0.1831:0.4632	.	91	P05362	ICAM1_HUMAN	T	91	ENSP00000264832:M91T	ENSP00000264832:M91T	M	+	2	0	ICAM1	10246645	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.326000	0.19646	0.302000	0.22762	0.533000	0.62120	ATG		0.527	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		
ICAM4	3386	broad.mit.edu	37	19	10398784	10398784	+	3'UTR	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:10398784G>T	ENST00000380770.3	+	0	866				ICAM4_ENST00000340992.4_Missense_Mutation_p.G248V|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000393717.2_3'UTR	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)	p.G248V(1)		breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGCGTAAAGGGGGATGTTCTA	0.542																																					p.G248V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G743T	19						.						82.0	81.0	81.0					19																	10398784		2203	4300	6503	10259784	SO:0001624	3_prime_UTR_variant	3386	exon3			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.*4G>T	19.37:g.10398784G>T			10259784	NM_001039132	A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	g	6.715	0.500601	0.12822	.	.	ENSG00000105371	ENST00000340992	T	0.31769	1.48	1.98	-0.437	0.12272	.	3.938060	0.02174	U	0.059953	T	0.17450	0.0419	.	.	.	0.09310	N	0.999996	P	0.42518	0.782	B	0.28305	0.088	T	0.23726	-1.0180	9	0.87932	D	0	.	2.4662	0.04554	0.1823:0.0:0.5292:0.2885	.	248	Q9BWR0	.	V	248	ENSP00000342114:G248V	ENSP00000342114:G248V	G	+	2	0	ICAM4	10259784	.	.	0.000000	0.03702	0.006000	0.05464	.	.	-0.035000	0.13691	-0.265000	0.10407	GGG		0.542	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544	
ILF3	3609	broad.mit.edu	37	19	10799329	10799329	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:10799329C>T	ENST00000590261.1	+	18	2526	c.2526C>T	c.(2524-2526)ggC>ggT	p.G842G	ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Silent_p.G846G|ILF3_ENST00000318511.3_Silent_p.G842G|ILF3_ENST00000449870.1_Silent_p.G846G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	842	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G842G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GTTCTGGGGGCGGCTCCTCAT	0.667																																					p.G842G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2526T	19						.						47.0	58.0	54.0					19																	10799329		2202	4297	6499	10660329	SO:0001819	synonymous_variant	3609	exon19			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2526C>T	19.37:g.10799329C>T			10660329	NM_012218	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.667	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
ELAVL3	1995	broad.mit.edu	37	19	11568982	11568982	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:11568982C>T	ENST00000359227.3	-	5	1031	c.607G>A	c.(607-609)Gcg>Acg	p.A203T	ELAVL3_ENST00000438662.2_Missense_Mutation_p.A203T	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	203	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.A203T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGGTTGTTCGCGAACTTGACT	0.602																																					p.A203T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607A	19						.						87.0	76.0	80.0					19																	11568982		2203	4300	6503	11429982	SO:0001583	missense	1995	exon5				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.607G>A	19.37:g.11568982C>T	ENSP00000352162:p.Ala203Thr		11429982	NM_001420	Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539357	0.96474	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.14391	2.97;2.51	4.96	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.052628	0.85682	D	0.000000	T	0.38480	0.1042	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.58577	0.841;0.791	T	0.45279	-0.9272	10	0.87932	D	0	.	16.9656	0.86285	0.0:1.0:0.0:0.0	.	203;203	Q14576;Q14576-2	ELAV3_HUMAN;.	T	203	ENSP00000352162:A203T;ENSP00000390878:A203T	ENSP00000352162:A203T	A	-	1	0	ELAVL3	11429982	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	7.434000	0.80377	2.311000	0.77944	0.491000	0.48974	GCG		0.602	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420	
ECSIT	51295	broad.mit.edu	37	19	11624780	11624780	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:11624780C>T	ENST00000270517.7	-	3	488	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	ECSIT_ENST00000592312.1_Missense_Mutation_p.R2Q|ECSIT_ENST00000252440.7_Missense_Mutation_p.R118Q|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000591104.1_Missense_Mutation_p.R118Q|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	118					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R118Q(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACCATACTCCCGCATCTTGCG	0.587																																					p.R118Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353A	19						.						126.0	88.0	101.0					19																	11624780		2203	4300	6503	11485780	SO:0001583	missense	51295	exon3			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.353G>A	19.37:g.11624780C>T	ENSP00000270517:p.Arg118Gln		11485780	NM_001142464	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	c	15.41	2.825631	0.50739	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.76448	-1.02;-1.02	5.71	-2.92	0.05615	.	0.392960	0.27595	N	0.018667	T	0.75012	0.3792	L	0.57536	1.79	0.09310	N	0.999993	D;P	0.59357	0.985;0.91	P;B	0.49192	0.602;0.33	T	0.72669	-0.4223	10	0.27785	T	0.31	-14.992	15.3074	0.74004	0.0:0.1877:0.7354:0.077	.	118;118	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	Q	118	ENSP00000270517:R118Q;ENSP00000252440:R118Q	ENSP00000252440:R118Q	R	-	2	0	ECSIT	11485780	0.433000	0.25562	0.422000	0.26621	0.892000	0.51952	0.709000	0.25734	0.010000	0.14839	0.543000	0.68304	CGG		0.587	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581	
ZNF44	51710	broad.mit.edu	37	19	12383358	12383358	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:12383358C>T	ENST00000356109.5	-	5	1974	c.1856G>A	c.(1855-1857)cGt>cAt	p.R619H	ZNF44_ENST00000355684.5_Missense_Mutation_p.R571H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GAAACTGGAACGACTGAAGGC	0.428																																					p.R571H												.	.	0			c.G1712A	19						.						62.0	65.0	64.0					19																	12383358		2203	4300	6503	12244358	SO:0001583	missense	51710	exon4			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1856G>A	19.37:g.12383358C>T	ENSP00000348419:p.Arg619His		12244358	NM_016264	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	2.839	-0.240794	0.05944	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.17854	2.25;2.25;2.25	1.1	-2.2	0.06994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	L	0.38838	1.175	.	.	.	B;B	0.21381	0.05;0.055	B;B	0.10450	0.005;0.002	T	0.44019	-0.9355	8	0.12103	T	0.63	.	3.9925	0.09543	0.0:0.3356:0.405:0.2593	.	619;571	P15621;F8W7T7	ZNF44_HUMAN;.	H	619;619;571;571	ENSP00000377008:R619H;ENSP00000348419:R619H;ENSP00000347910:R571H	ENSP00000347910:R571H	R	-	2	0	ZNF44	12244358	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	-3.307000	0.00518	-1.176000	0.02747	0.305000	0.20034	CGT		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264	
ZNF791	163049	broad.mit.edu	37	19	12739566	12739566	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:12739566G>C	ENST00000343325.4	+	4	1385	c.1223G>C	c.(1222-1224)gGa>gCa	p.G408A	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Missense_Mutation_p.G376A|ZNF791_ENST00000540038.1_Missense_Mutation_p.G299A|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	408					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.G408A(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AATCACACTGGAGAAAAACCC	0.388																																					p.G408A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223C	19						.						94.0	102.0	100.0					19																	12739566		2203	4300	6503	12600566	SO:0001583	missense	163049	exon4			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1223G>C	19.37:g.12739566G>C	ENSP00000342974:p.Gly408Ala		12600566	NM_153358	B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571691	0.45798	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.26373	1.74;1.74;1.74	1.83	1.83	0.25207	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40522	0.1120	M	0.64404	1.975	0.25081	N	0.990928	D	0.65815	0.995	P	0.59424	0.857	T	0.13388	-1.0511	9	0.87932	D	0	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	408	Q3KP31	ZN791_HUMAN	A	408;390;376;299	ENSP00000342974:G408A;ENSP00000441761:G376A;ENSP00000441038:G299A	ENSP00000342974:G408A	G	+	2	0	ZNF791	12600566	0.926000	0.31397	0.990000	0.47175	0.990000	0.78478	2.201000	0.42734	1.007000	0.39238	0.491000	0.48974	GGA		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358	
MAN2B1	4125	broad.mit.edu	37	19	12772184	12772184	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:12772184A>G	ENST00000456935.2	-	7	956	c.916T>C	c.(916-918)Tat>Cat	p.Y306H	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.Y306H	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	306					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.Y306H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGCGGTAATACCGGCCCTGC	0.527																																					p.Y306H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T916C	19						.						178.0	150.0	159.0					19																	12772184		2203	4300	6503	12633184	SO:0001583	missense	4125	exon7				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.916T>C	19.37:g.12772184A>G	ENSP00000395473:p.Tyr306His		12633184	NM_000528	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	A	4.939	0.174523	0.09391	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78126	-1.15;-1.15	5.49	-7.17	0.01511	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	2.254910	0.01646	N	0.024318	T	0.48995	0.1531	N	0.03084	-0.415	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.47249	-0.9132	10	0.14252	T	0.57	-3.7522	5.3332	0.15944	0.4917:0.0:0.2098:0.2985	.	306;306	G5E928;O00754	.;MA2B1_HUMAN	H	306;245;306	ENSP00000395473:Y306H;ENSP00000221363:Y306H	ENSP00000221363:Y306H	Y	-	1	0	MAN2B1	12633184	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.133000	0.03232	-1.329000	0.02258	-2.609000	0.00160	TAT		0.527	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
ILVBL	10994	broad.mit.edu	37	19	15227117	15227117	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:15227117C>T	ENST00000263383.3	-	12	1456	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Missense_Mutation_p.M332I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	439						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.M439I(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGGCCACAGGCATCGCTGCCT	0.637																																					p.M439I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1317A	19						.						109.0	96.0	100.0					19																	15227117		2203	4300	6503	15088117	SO:0001583	missense	10994	exon12			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1317G>A	19.37:g.15227117C>T	ENSP00000263383:p.Met439Ile		15088117	NM_006844	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893139	0.17613	.	.	ENSG00000105135	ENST00000263383	T	0.29397	1.57	5.12	2.98	0.34508	.	0.662303	0.15645	N	0.251687	T	0.17450	0.0419	N	0.22421	0.69	0.24301	N	0.995127	B	0.10296	0.003	B	0.04013	0.001	T	0.23476	-1.0187	10	0.13853	T	0.58	-6.2806	8.1785	0.31296	0.0:0.8084:0.0:0.1916	.	439	A1L0T0	ILVBL_HUMAN	I	439	ENSP00000263383:M439I	ENSP00000263383:M439I	M	-	3	0	ILVBL	15088117	0.670000	0.27512	0.028000	0.17463	0.407000	0.30961	1.305000	0.33493	1.163000	0.42636	0.561000	0.74099	ATG		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844	
AKAP8	10270	broad.mit.edu	37	19	15472932	15472933	+	Missense_Mutation	DNP	CC	CC	GG			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:15472932_15472933CC>GG	ENST00000269701.2	-	10	1350_1351	c.1290_1291GG>CC	c.(1288-1293)gtGGag>gtCCag	p.E431Q		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	431					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.V430>?(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGGAGGAACTCCACGGTCTTGT	0.545																																					.	GBM(190;1671 2163 3274 27186 30476)											.	.	1	Complex(1)	large_intestine(1)	c.1290_1291CC	19						.																																			15333933	SO:0001583	missense	10270	exon10			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.1290_1291delinsGG	19.37:g.15472932_15472933delinsGG	ENSP00000269701:p.Glu431Gln		15333932	NM_005858		Missense_Mutation	DNP	ENST00000269701.2	37	CCDS12329.1																																																																																				0.545	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
MED26	9441	broad.mit.edu	37	19	16687291	16687291	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:16687291G>A	ENST00000263390.3	-	3	1612	c.1350C>T	c.(1348-1350)caC>caT	p.H450H	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	450					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.H450H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GCTGCTCCATGTGCACAGGGC	0.587																																					p.H450H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1350T	19						.						82.0	71.0	75.0					19																	16687291		2203	4300	6503	16548291	SO:0001819	synonymous_variant	9441	exon3			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1350C>T	19.37:g.16687291G>A			16548291	NM_004831	A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	CCDS12347.1																																																																																				0.587	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831	
CPAMD8	27151	broad.mit.edu	37	19	17062785	17062785	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:17062785G>A	ENST00000443236.1	-	20	2674	c.2643C>T	c.(2641-2643)tgC>tgT	p.C881C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	834						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C881C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTACCTCAGCGCAGGTGCCCA	0.562																																					p.C881C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2643T	19						.						31.0	32.0	32.0					19																	17062785		2024	4180	6204	16923785	SO:0001819	synonymous_variant	27151	exon20			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2643C>T	19.37:g.17062785G>A			16923785	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365148	0.05103	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.14	-2.3	0.06785	.	.	.	.	.	T	0.50854	0.1640	.	.	.	0.43444	D	0.995624	.	.	.	.	.	.	T	0.39563	-0.9608	4	.	.	.	.	7.0142	0.24879	0.4565:0.1343:0.4092:0.0	.	.	.	.	V	892	.	.	A	-	2	0	CPAMD8	16923785	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	-0.331000	0.07914	-1.031000	0.03308	-0.573000	0.04149	GCG		0.562	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
GDF15	9518	broad.mit.edu	37	19	18497004	18497004	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:18497004C>A	ENST00000252809.3	+	1	37	c.5C>A	c.(4-6)cCc>cAc	p.P2H	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	2					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.P2H(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						ACAGCCATGCCCGGGCAAGAA	0.647																																					p.P2H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5A	19						.						44.0	47.0	46.0					19																	18497004		2203	4300	6503	18358004	SO:0001583	missense	9518	exon1			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.5C>A	19.37:g.18497004C>A	ENSP00000252809:p.Pro2His		18358004	NM_004864	O14629|P78360|Q9BWA0|Q9NRT0	Missense_Mutation	SNP	ENST00000252809.3	37	CCDS12376.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845945	0.51164	.	.	ENSG00000130513	ENST00000252809	D	0.82893	-1.66	4.17	-1.15	0.09709	.	.	.	.	.	D	0.82976	0.5154	L	0.56769	1.78	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.72890	-0.4155	9	0.87932	D	0	-14.1885	7.0317	0.24970	0.0:0.3587:0.5323:0.109	.	2	Q99988	GDF15_HUMAN	H	2	ENSP00000252809:P2H	ENSP00000252809:P2H	P	+	2	0	GDF15	18358004	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	-0.084000	0.11268	0.295000	0.22570	0.313000	0.20887	CCC		0.647	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864	
SLC39A3	29985	broad.mit.edu	37	19	2732911	2732911	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:2732911C>T	ENST00000269740.4	-	3	1112	c.783G>A	c.(781-783)gcG>gcA	p.A261A	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Silent_p.A261A	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	261					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.A261A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		GCAGCACGGACGCCACGCTGC	0.682																																					p.A261A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G783A	19						.						38.0	34.0	35.0					19																	2732911		2202	4299	6501	2683911	SO:0001819	synonymous_variant	29985	exon3			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.783G>A	19.37:g.2732911C>T			2683911	NM_144564	B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	CCDS12093.1																																																																																				0.682	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2		
ZNF101	94039	broad.mit.edu	37	19	19790016	19790016	+	Missense_Mutation	SNP	G	G	A	rs375840501		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:19790016G>A	ENST00000592502.1	+	4	328	c.218G>A	c.(217-219)cGt>cAt	p.R73H	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	73	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)	p.R73H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CTCTGTGGACGTAAAGAAGGG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		21420	0.001		0.0	False		,,,				2504	0.0				p.R73H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	19						.	G	HIS/ARG	0,4406		0,0,2203	76.0	74.0	75.0		218	0.2	0.8	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF101	NM_033204.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	73/437	19790016	1,13005	2203	4300	6503	19651016	SO:0001583	missense	94039	exon4			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.218G>A	19.37:g.19790016G>A	ENSP00000468049:p.Arg73His		19651016	NM_033204	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746772	0.30955	0.0	1.16E-4	ENSG00000181896	ENST00000318110;ENST00000415440	T	0.05199	3.48	0.235	0.235	0.15431	Krueppel-associated box (1);	.	.	.	.	T	0.04907	0.0132	L	0.34521	1.04	0.09310	N	0.999996	B	0.16166	0.016	B	0.08055	0.003	T	0.39941	-0.9589	9	0.34782	T	0.22	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	73	Q8IZC7	ZN101_HUMAN	H	73	ENSP00000319716:R73H	ENSP00000319716:R73H	R	+	2	0	ZNF101	19651016	0.000000	0.05858	0.775000	0.31657	0.778000	0.44026	0.135000	0.15952	0.308000	0.22923	0.313000	0.20887	CGT		0.393	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
ZNF536	9745	broad.mit.edu	37	19	30936439	30936439	+	Missense_Mutation	SNP	G	G	A	rs556954524		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:30936439G>A	ENST00000355537.3	+	2	2117	c.1970G>A	c.(1969-1971)cGc>cAc	p.R657H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	657					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R657H(1)|p.R657L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGGGACCGCAAGGGCGAG	0.692																																					p.R657H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1970A	19						.						53.0	59.0	57.0					19																	30936439		2203	4299	6502	35628279	SO:0001583	missense	9745	exon2				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1970G>A	19.37:g.30936439G>A	ENSP00000347730:p.Arg657His		35628279	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790713	0.70452	.	.	ENSG00000198597	ENST00000355537	T	0.10960	2.82	5.42	5.42	0.78866	Zinc finger, C2H2 (1);	0.053940	0.64402	D	0.000003	T	0.22126	0.0533	N	0.24115	0.695	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.02553	-1.1142	10	0.72032	D	0.01	-41.0082	19.2151	0.93774	0.0:0.0:1.0:0.0	.	657;657	A7E228;O15090	.;ZN536_HUMAN	H	657	ENSP00000347730:R657H	ENSP00000347730:R657H	R	+	2	0	ZNF536	35628279	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.589000	0.82641	2.509000	0.84616	0.655000	0.94253	CGC		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
MAG	4099	broad.mit.edu	37	19	35800808	35800808	+	Silent	SNP	C	C	T	rs200957534		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:35800808C>T	ENST00000392213.3	+	8	1422	c.1263C>T	c.(1261-1263)tgC>tgT	p.C421C	MAG_ENST00000537831.2_Silent_p.C396C|MAG_ENST00000361922.4_Silent_p.C421C|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	421	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.C421C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTCCCACTGCGCGGCAGCCC	0.677																																					p.C396C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1188T	19						.						65.0	72.0	70.0					19																	35800808		2203	4298	6501	40492648	SO:0001819	synonymous_variant	4099	exon8			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1263C>T	19.37:g.35800808C>T			40492648	NM_001199216	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																				0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
DMKN	93099	broad.mit.edu	37	19	35990872	35990872	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:35990872C>A	ENST00000339686.3	-	13	1523	c.1347G>T	c.(1345-1347)aaG>aaT	p.K449N	DMKN_ENST00000602781.1_Missense_Mutation_p.K176N|DMKN_ENST00000492341.2_Missense_Mutation_p.K96N|DMKN_ENST00000408915.2_Missense_Mutation_p.K63N|DMKN_ENST00000467637.1_Missense_Mutation_p.K174N|DMKN_ENST00000419602.1_Missense_Mutation_p.K438N|DMKN_ENST00000472252.2_Missense_Mutation_p.K96N|DMKN_ENST00000443640.1_Missense_Mutation_p.K226N|DMKN_ENST00000402589.2_Missense_Mutation_p.K176N|DMKN_ENST00000480502.1_Missense_Mutation_p.K157N|DMKN_ENST00000414866.2_Missense_Mutation_p.K162N|DMKN_ENST00000436012.1_Missense_Mutation_p.K145N|DMKN_ENST00000429837.1_Missense_Mutation_p.K422N|DMKN_ENST00000462126.1_5'UTR	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	449						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K449N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTGCAGGGGTCTTGACTGAGT	0.572																																					p.K449N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1347T	19						.						219.0	184.0	196.0					19																	35990872		2203	4300	6503	40682712	SO:0001583	missense	93099	exon13			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1347G>T	19.37:g.35990872C>A	ENSP00000342012:p.Lys449Asn		40682712	NM_033317	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.12|15.12|15.12	2.738130|2.738130|2.738130	0.49045|0.49045|0.49045	.|.|.	.|.|.	ENSG00000161249|ENSG00000161249|ENSG00000161249	ENST00000434389|ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000443857	.|T;T;T;T;T;T;T;T|.	.|0.38560|.	.|1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13|.	3.89|3.89|3.89	3.89|3.89|3.89	0.44902|0.44902|0.44902	.|.|.	.|0.000000|.	.|0.47455|.	.|D|.	.|0.000231|.	T|T|T	0.64516|0.64516|0.64516	0.2605|0.2605|0.2605	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.43787|0.43787|0.43787	D|D|D	0.996322|0.996322|0.996322	.|D;D;D;D;D;D;D;D;D;D|.	.|0.89917|.	.|1.0;0.999;0.999;0.999;0.996;0.981;0.998;0.995;0.995;0.995|.	.|D;D;D;D;D;P;P;P;P;P|.	.|0.83275|.	.|0.996;0.994;0.994;0.994;0.99;0.801;0.882;0.844;0.882;0.882|.	T|T|T	0.63051|0.63051|0.63051	-0.6723|-0.6723|-0.6723	5|10|5	.|0.87932|.	.|D|.	.|0|.	-13.3578|-13.3578|-13.3578	11.6843|11.6843|11.6843	0.51476|0.51476|0.51476	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|119;105;125;143;438;422;449;162;226;63|.	.|Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.	.|.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.	Y|N|I	174|63;176;449;145;162;422;438;226|167	.|ENSP00000386225:K63N;ENSP00000384509:K176N;ENSP00000342012:K449N;ENSP00000412075:K145N;ENSP00000392222:K162N;ENSP00000405503:K422N;ENSP00000391036:K438N;ENSP00000406864:K226N|.	.|ENSP00000342012:K449N|.	D|K|R	-|-|-	1|3|2	0|2|0	DMKN|DMKN|DMKN	40682712|40682712|40682712	0.928000|0.928000|0.928000	0.31464|0.31464|0.31464	0.048000|0.048000|0.048000	0.18961|0.18961|0.18961	0.033000|0.033000|0.033000	0.12548|0.12548|0.12548	3.062000|3.062000|3.062000	0.49971|0.49971|0.49971	2.466000|2.466000|2.466000	0.83321|0.83321|0.83321	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAC|AAG|AGA		0.572	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
ATP4A	495	broad.mit.edu	37	19	36051301	36051301	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:36051301G>A	ENST00000262623.3	-	6	779	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	251					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.R251C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCGATGTTGCGGGTCTCCAGA	0.647																																					p.R251C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C751T	19						.						91.0	93.0	93.0					19																	36051301		2203	4300	6503	40743141	SO:0001583	missense	495	exon6				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.751C>T	19.37:g.36051301G>A	ENSP00000262623:p.Arg251Cys		40743141	NM_000704	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.502679	0.64298	.	.	ENSG00000105675	ENST00000262623	D	0.90788	-2.73	4.16	4.16	0.48862	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000010	D	0.93167	0.7824	M	0.69185	2.1	0.58432	D	0.999998	D	0.76494	0.999	D	0.67900	0.954	D	0.93097	0.6505	10	0.87932	D	0	.	9.5339	0.39211	0.0:0.0:0.7898:0.2102	.	251	P20648	ATP4A_HUMAN	C	251	ENSP00000262623:R251C	ENSP00000262623:R251C	R	-	1	0	ATP4A	40743141	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.585000	0.23879	2.314000	0.78098	0.486000	0.48141	CGC		0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
ANKRD24	170961	broad.mit.edu	37	19	4216803	4216803	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:4216803C>T	ENST00000600132.1	+	18	1922	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L	ANKRD24_ENST00000262970.5_Missense_Mutation_p.S639L|ANKRD24_ENST00000318934.4_Missense_Mutation_p.S549L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	549								p.S415L(1)|p.S549L(1)|p.S639L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTAAATGGCTCAGTGGCTCCA	0.582																																					p.S549L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1646T	19						.						21.0	23.0	22.0					19																	4216803		2007	4178	6185	4167803	SO:0001583	missense	170961	exon18			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1646C>T	19.37:g.4216803C>T	ENSP00000471252:p.Ser549Leu		4167803	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	13.46	2.243286	0.39697	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.31510	1.49;1.54	3.54	1.38	0.22167	.	0.771895	0.10556	N	0.660838	T	0.17450	0.0419	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24764	-1.0151	10	0.31617	T	0.26	0.0297	9.0186	0.36186	0.0:0.8055:0.0:0.1945	.	549;639	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	L	549;639	ENSP00000321731:S549L;ENSP00000262970:S639L	ENSP00000262970:S639L	S	+	2	0	ANKRD24	4167803	0.000000	0.05858	0.000000	0.03702	0.793000	0.44817	-0.237000	0.08990	0.493000	0.27837	0.313000	0.20887	TCA		0.582	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	
HAUS5	23354	broad.mit.edu	37	19	36111151	36111151	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:36111151C>A	ENST00000203166.5	+	17	1598	c.1573C>A	c.(1573-1575)Ctg>Atg	p.L525M	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	525					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.L525M(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTTCTGCTCCTGCAGGACCA	0.687																																					p.L525M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1573A	19						.						20.0	25.0	24.0					19																	36111151		1988	4154	6142	40802991	SO:0001583	missense	23354	exon17			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.1573C>A	19.37:g.36111151C>A	ENSP00000439056:p.Leu525Met		40802991	NM_015302	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738663	0.49045	.	.	ENSG00000249115	ENST00000203166	T	0.53206	0.63	5.05	2.93	0.34026	.	0.333784	0.28062	N	0.016754	T	0.58004	0.2092	M	0.72894	2.215	0.80722	D	1	P	0.51791	0.948	P	0.55577	0.779	T	0.59359	-0.7469	10	0.87932	D	0	-11.6455	9.3809	0.38313	0.0:0.8236:0.0:0.1764	.	525	O94927	HAUS5_HUMAN	M	525	ENSP00000439056:L525M	ENSP00000439056:L525M	L	+	1	2	HAUS5	40802991	0.639000	0.27234	0.996000	0.52242	0.422000	0.31414	0.576000	0.23744	0.537000	0.28751	0.655000	0.94253	CTG		0.687	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2		
ZNF567	163081	broad.mit.edu	37	19	37210363	37210363	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:37210363C>T	ENST00000536254.2	+	6	959	c.737C>T	c.(736-738)gCa>gTa	p.A246V	ZNF567_ENST00000588311.1_Missense_Mutation_p.A215V|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.A215V|ZNF567_ENST00000392163.2_Missense_Mutation_p.A215V|ZNF567_ENST00000585696.1_Missense_Mutation_p.A215V			Q8N184	ZN567_HUMAN	zinc finger protein 567	246					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.A215V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAAGAAGAGCAACCAATATT	0.348																																					p.A215V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644T	19						.						22.0	25.0	24.0					19																	37210363		2184	4275	6459	41902203	SO:0001583	missense	163081	exon4			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.737C>T	19.37:g.37210363C>T	ENSP00000441838:p.Ala246Val		41902203	NM_152603	B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		.	.	.	.	.	.	.	.	.	.	C	8.289	0.817245	0.16607	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.08370	3.19;3.1;3.18	4.6	0.072	0.14385	.	0.520533	0.16218	N	0.224150	T	0.07683	0.0193	L	0.57536	1.79	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.17349	-1.0372	10	0.33141	T	0.24	.	4.0523	0.09801	0.0:0.535:0.1745:0.2906	.	246;215	Q8N184;F8WEL6	ZN567_HUMAN;.	V	246;246;215;245;215	ENSP00000441838:A246V;ENSP00000353957:A215V;ENSP00000376003:A215V	ENSP00000353957:A215V	A	+	2	0	ZNF567	41902203	0.001000	0.12720	0.191000	0.23289	0.749000	0.42624	0.262000	0.18460	0.285000	0.22329	-0.362000	0.07510	GCA		0.348	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
ZNF573	126231	broad.mit.edu	37	19	38229779	38229779	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:38229779A>G	ENST00000590414.2	-	4	1633	c.1612T>C	c.(1612-1614)Tat>Cat	p.Y538H	ZNF573_ENST00000357309.3_Missense_Mutation_p.Y450H|ZNF573_ENST00000536220.1_Missense_Mutation_p.Y450H|ZNF573_ENST00000339503.4_Missense_Mutation_p.Y480H|ZNF573_ENST00000392138.1_Missense_Mutation_p.Y451H			Q86YE8	ZN573_HUMAN	zinc finger protein 573	538					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.Y480H(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AGATTTCTATAGAAAGTAAAG	0.343																																					p.Y536H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1606C	19						.						41.0	42.0	42.0					19																	38229779		2203	4297	6500	42921619	SO:0001583	missense	126231	exon5			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1612T>C	19.37:g.38229779A>G	ENSP00000465020:p.Tyr538His		42921619	NM_001172691	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	-	9.387	1.074393	0.20227	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	2.04	0.787	0.18596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.13272	0.32	0.09310	N	1	P;P;P;P	0.46327	0.681;0.876;0.804;0.876	B;B;B;B	0.37888	0.192;0.26;0.133;0.26	T	0.28170	-1.0052	9	0.22706	T	0.39	.	0.0655	0.00017	0.3438:0.2194:0.1825:0.2543	.	451;480;518;450	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	H	451;450;450;480;450	ENSP00000375983:Y451H;ENSP00000440464:Y450H;ENSP00000349861:Y450H;ENSP00000340171:Y480H	ENSP00000340171:Y480H	Y	-	1	0	ZNF573	42921619	.	.	0.990000	0.47175	0.989000	0.77384	.	.	0.785000	0.33685	0.477000	0.44152	TAT		0.343	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360	
RASGRP4	115727	broad.mit.edu	37	19	38903339	38903339	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:38903339A>G	ENST00000587738.1	-	13	1723	c.1653T>C	c.(1651-1653)ccT>ccC	p.P551P	RASGRP4_ENST00000586305.1_Silent_p.P537P|RASGRP4_ENST00000433821.2_Silent_p.P459P|RASGRP4_ENST00000587753.1_Silent_p.P482P|RASGRP4_ENST00000426920.2_Silent_p.P362P|RASGRP4_ENST00000293062.9_Silent_p.P454P|RASGRP4_ENST00000454404.2_Silent_p.P517P			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	551					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.P551P(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCAGAAGGTAGGCTTTCGGA	0.607																																					p.P362P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1086C	19						.						54.0	63.0	60.0					19																	38903339		2096	4202	6298	43595179	SO:0001819	synonymous_variant	115727	exon10			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1653T>C	19.37:g.38903339A>G			43595179	NM_001146206	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	37	CCDS46068.1																																																																																				0.607	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	
LGALS7B	653499	broad.mit.edu	37	19	39281406	39281406	+	Missense_Mutation	SNP	C	C	T	rs548125638	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:39281406C>T	ENST00000314980.4	+	3	189	c.173C>T	c.(172-174)tCg>tTg	p.S58L		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	58	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.S58L(1)									CTGGACACGTCGGAGGTGGTC	0.672																																					p.S58L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C173T	19						.						27.0	30.0	29.0					19																	39281406		2201	4296	6497	43973246	SO:0001583	missense	653499	exon3				CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"""Lectins, galactoside-binding"""	34447	protein-coding gene	gene with protein product	"""galectin 7B"""						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.173C>T	19.37:g.39281406C>T	ENSP00000313571:p.Ser58Leu		43973246	NM_001042507	Q6IB87	Missense_Mutation	SNP	ENST00000314980.4	37	CCDS42565.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284120	0.59867	.	.	ENSG00000178934	ENST00000314980	T	0.18657	2.2	4.07	-1.81	0.07882	.	0.950501	0.08674	N	0.910450	T	0.21550	0.0519	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42103	-0.9471	7	0.62326	D	0.03	-26.194	7.4277	0.27109	0.2865:0.2482:0.4653:0.0	.	.	.	.	L	58	ENSP00000313571:S58L	ENSP00000313571:S58L	S	+	2	0	LGALS7B	43973246	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.288000	0.18939	-0.005000	0.14395	-0.182000	0.12963	TCG		0.672	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1		
TIMM50	92609	broad.mit.edu	37	19	39978791	39978791	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:39978791G>A	ENST00000607714.1	+	9	809	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	TIMM50_ENST00000314349.4_Missense_Mutation_p.A366T|TIMM50_ENST00000544017.1_Missense_Mutation_p.A150T|TIMM50_ENST00000599794.1_Missense_Mutation_p.A67T			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	263	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.A366T(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAACGGCGTTGCCCTGCGGCC	0.567																																					p.A366T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1096A	19						.						206.0	207.0	207.0					19																	39978791		2203	4300	6503	44670631	SO:0001583	missense	92609	exon9			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.787G>A	19.37:g.39978791G>A	ENSP00000475531:p.Ala263Thr		44670631	NM_001001563	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37		.	.	.	.	.	.	.	.	.	.	G	11.17	1.559170	0.27827	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	T;T	0.17528	2.27;2.27	4.96	3.92	0.45320	NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.47016	1.485	0.58432	D	0.999996	D;P	0.60575	0.988;0.866	P;P	0.57009	0.811;0.675	T	0.01613	-1.1312	9	.	.	.	-21.6305	14.4008	0.67044	0.0:0.1492:0.8508:0.0	.	263;366	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	T	366;150	ENSP00000318115:A366T;ENSP00000445806:A150T	.	A	+	1	0	TIMM50	44670631	1.000000	0.71417	0.097000	0.21041	0.017000	0.09413	9.159000	0.94728	1.296000	0.44742	-0.165000	0.13383	GCC		0.567	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563	
CYP2A13	1553	broad.mit.edu	37	19	41594441	41594441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:41594441C>A	ENST00000330436.3	+	1	65	c.65C>A	c.(64-66)tCa>tAa	p.S22*		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	22					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S22*(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GTCTTGATGTCAGTCTGGCGG	0.587																																					p.S22X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C65A	19						.						82.0	70.0	74.0					19																	41594441		2203	4300	6503	46286281	SO:0001587	stop_gained	1553	exon1			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.65C>A	19.37:g.41594441C>A	ENSP00000332679:p.Ser22*		46286281	NM_000766	Q53YR8|Q6R569|Q6R570|Q9H2X2	Nonsense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.073742	0.76415	.	.	ENSG00000197838	ENST00000330436	.	.	.	3.33	3.33	0.38152	.	0.641588	0.15187	U	0.275776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3928	0.44184	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000332679:S22X	S	+	2	0	CYP2A13	46286281	0.000000	0.05858	0.998000	0.56505	0.551000	0.35334	0.546000	0.23284	1.870000	0.54199	0.444000	0.29173	TCA		0.587	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
ZNF526	116115	broad.mit.edu	37	19	42729381	42729381	+	Missense_Mutation	SNP	G	G	A	rs370031955		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:42729381G>A	ENST00000301215.3	+	3	1051	c.826G>A	c.(826-828)Ggg>Agg	p.G276R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	276					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.G276R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TCAGGGCTGCGGGGACTGTCC	0.657																																					p.G276R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G826A	19						.	G	ARG/GLY	0,4404		0,0,2202	82.0	49.0	60.0		826	4.5	1.0	19		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF526	NM_133444.1	125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	276/671	42729381	1,13003	2202	4300	6502	47421221	SO:0001583	missense	116115	exon3			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.826G>A	19.37:g.42729381G>A	ENSP00000301215:p.Gly276Arg		47421221	NM_133444	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766403	0.49574	0.0	1.16E-4	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.09163	3.01	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);	0.176638	0.28135	N	0.016478	T	0.19525	0.0469	L	0.50333	1.59	0.38364	D	0.944691	D	0.71674	0.998	P	0.57720	0.826	T	0.00964	-1.1498	10	0.38643	T	0.18	-23.4881	10.2076	0.43122	0.094:0.0:0.906:0.0	.	276	Q8TF50	ZN526_HUMAN	R	132;276	ENSP00000301215:G276R	ENSP00000301215:G276R	G	+	1	0	ZNF526	47421221	0.996000	0.38824	0.986000	0.45419	0.546000	0.35178	2.116000	0.41930	2.514000	0.84764	0.563000	0.77884	GGG		0.657	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401	
CIC	23152	broad.mit.edu	37	19	42792055	42792055	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:42792055G>T	ENST00000575354.2	+	6	899	c.859G>T	c.(859-861)Ggg>Tgg	p.G287W	CIC_ENST00000572681.2_Missense_Mutation_p.G1196W|CIC_ENST00000160740.3_Missense_Mutation_p.G287W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G287W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACGAGCCTGGGGCTGGCAGG	0.652			"""Mis, F, S"""		oligodendroglioma																																p.G287W			Rec	yes		19	19q13.2	23152	capicua homolog		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G859T	19						.						24.0	21.0	22.0					19																	42792055		2203	4299	6502	47483895	SO:0001583	missense	23152	exon6			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.859G>T	19.37:g.42792055G>T	ENSP00000458663:p.Gly287Trp		47483895	NM_015125	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890508	0.52014	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.66406	0.2786	L	0.34521	1.04	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.70193	-0.4939	8	0.87932	D	0	-12.663	14.9544	0.71101	0.0:0.0:1.0:0.0	.	287	Q96RK0	CIC_HUMAN	W	287	.	ENSP00000160740:G287W	G	+	1	0	CIC	47483895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.008000	0.70739	2.391000	0.81399	0.555000	0.69702	GGG		0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
LIPE	3991	broad.mit.edu	37	19	42912459	42912459	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:42912459G>A	ENST00000244289.4	-	3	1711	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	479					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.R479W(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGAATGGCCGGATGGCAGGC	0.627																																					p.R479W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1435T	19						.						146.0	134.0	138.0					19																	42912459		2203	4300	6503	47604299	SO:0001583	missense	3991	exon3			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1435C>T	19.37:g.42912459G>A	ENSP00000244289:p.Arg479Trp		47604299	NM_005357	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263241	0.59431	.	.	ENSG00000079435	ENST00000244289	T	0.38722	1.12	4.32	2.02	0.26589	Hormone-sensitive lipase, N-terminal (1);	0.087086	0.42821	D	0.000649	T	0.63117	0.2484	M	0.80847	2.515	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.65191	-0.6228	10	0.66056	D	0.02	-18.1983	11.7483	0.51832	0.0:0.0:0.6491:0.3509	.	479;479	A8K8W7;Q05469	.;LIPS_HUMAN	W	479	ENSP00000244289:R479W	ENSP00000244289:R479W	R	-	1	2	LIPE	47604299	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.122000	0.57910	0.307000	0.22880	0.561000	0.74099	CGG		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357	
ZNF284	342909	broad.mit.edu	37	19	44590336	44590336	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:44590336G>C	ENST00000421176.3	+	5	921	c.705G>C	c.(703-705)caG>caC	p.Q235H	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	235					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.Q235H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AATGTGAGCAGTGTGGGAAAA	0.413																																					p.Q235H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G705C	19						.						74.0	80.0	78.0					19																	44590336		2198	4299	6497	49282176	SO:0001583	missense	342909	exon5			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.705G>C	19.37:g.44590336G>C	ENSP00000411032:p.Gln235His		49282176	NM_001037813	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737972	0.49045	.	.	ENSG00000186026	ENST00000421176	T	0.07567	3.18	2.59	-5.18	0.02840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.12182	0.205	0.09310	N	1	D	0.63046	0.992	D	0.69142	0.962	T	0.13872	-1.0493	9	0.52906	T	0.07	.	6.0243	0.19646	0.3657:0.1941:0.4402:0.0	.	235	Q2VY69	ZN284_HUMAN	H	235	ENSP00000411032:Q235H	ENSP00000411032:Q235H	Q	+	3	2	ZNF284	49282176	0.000000	0.05858	0.016000	0.15963	0.760000	0.43138	-7.004000	0.00047	-1.397000	0.02068	-0.379000	0.06801	CAG		0.413	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	
CEACAM20	125931	broad.mit.edu	37	19	45024752	45024752	+	RNA	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:45024752G>A	ENST00000454753.1	-	0	1064							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CAAGGTTCAGGCTTGAAGGCA	0.542																																					p.S262S												.	.	0			c.C786T	19						.						144.0	134.0	137.0					19																	45024752		2080	4229	6309	49716592			125931	exon5			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024752G>A			49716592	NM_001102597		Silent	SNP	ENST00000454753.1	37																																																																																					0.542	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
CEACAM19	56971	broad.mit.edu	37	19	45176222	45176222	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:45176222A>G	ENST00000403660.3	+	2	620	c.410A>G	c.(409-411)gAg>gGg	p.E137G	CEACAM19_ENST00000358777.4_Missense_Mutation_p.E137G|CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	137						integral component of membrane (GO:0016021)		p.E137G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GCCAAGACTGAGGTCCAGGTA	0.537																																					p.E137G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A410G	19						.						76.0	67.0	70.0					19																	45176222		2203	4300	6503	49868062	SO:0001583	missense	56971	exon2			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.410A>G	19.37:g.45176222A>G	ENSP00000384887:p.Glu137Gly		49868062	NM_001127893	Q5XJ15|Q7Z693	Missense_Mutation	SNP	ENST00000403660.3	37	CCDS12641.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292922	0.40594	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.67171	-0.25;-0.25	3.92	2.9	0.33743	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.226320	0.06091	N	0.663617	T	0.72843	0.3511	M	0.67953	2.075	0.09310	N	1	P;P	0.51449	0.945;0.945	P;P	0.52598	0.703;0.703	T	0.54964	-0.8214	10	0.59425	D	0.04	-0.0145	5.6863	0.17805	0.8757:0.0:0.1243:0.0	.	137;137	Q5XJ15;Q7Z692	.;CEA19_HUMAN	G	137	ENSP00000351627:E137G;ENSP00000384887:E137G	ENSP00000351627:E137G	E	+	2	0	CEACAM19	49868062	0.237000	0.23815	0.390000	0.26220	0.616000	0.37450	1.091000	0.30915	0.586000	0.29626	0.454000	0.30748	GAG		0.537	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219	
OPA3	80207	broad.mit.edu	37	19	46056885	46056885	+	Missense_Mutation	SNP	C	C	G	rs567096759		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:46056885C>G	ENST00000263275.4	-	2	481	c.427G>C	c.(427-429)Gcg>Ccg	p.A143P	OPA3_ENST00000544371.1_Missense_Mutation_p.A90P|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	143					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)		p.A143P(1)		cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TGTGGCGGCGCCGCCTGCACC	0.726													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13655	0.0		0.0	False		,,,				2504	0.0				p.A143P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427C	19						.																																			50748725	SO:0001583	missense	80207	exon2			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.427G>C	19.37:g.46056885C>G	ENSP00000263275:p.Ala143Pro		50748725	NM_025136	Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669692	0.47677	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.83755	-1.74;-1.76	4.7	-4.89	0.03103	.	.	.	.	.	T	0.69486	0.3116	L	0.43923	1.385	0.09310	N	1	P	0.37955	0.612	B	0.34722	0.188	T	0.58962	-0.7543	9	0.29301	T	0.29	.	6.0863	0.19968	0.0:0.3313:0.3481:0.3206	.	143	Q9H6K4	OPA3_HUMAN	P	143;90	ENSP00000263275:A143P;ENSP00000442839:A90P	ENSP00000263275:A143P	A	-	1	0	OPA3	50748725	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	0.467000	0.22035	-0.472000	0.06881	0.561000	0.74099	GCG		0.726	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1		
PTPRS	5802	broad.mit.edu	37	19	5221225	5221225	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:5221225T>C	ENST00000587303.1	-	19	3340	c.3241A>G	c.(3241-3243)Acc>Gcc	p.T1081A	PTPRS_ENST00000348075.2_Missense_Mutation_p.T1059A|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1081A|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.T650A|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1059A|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1077A|PTPRS_ENST00000353284.2_Missense_Mutation_p.T650A|PTPRS_ENST00000372412.4_Missense_Mutation_p.T1082A			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1081	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1081A(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTCTTGGTGGTACGGCCATCC	0.617																																					p.T1081A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3241G	19						.						181.0	134.0	150.0					19																	5221225		2203	4300	6503	5172225	SO:0001583	missense	5802	exon20			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3241A>G	19.37:g.5221225T>C	ENSP00000467537:p.Thr1081Ala		5172225	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	3.861	-0.029829	0.07589	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54071	0.69;0.59;0.59;0.59;0.59	4.0	4.0	0.46444	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.217738	0.30519	U	0.009448	T	0.34948	0.0915	L	0.34521	1.04	0.29490	N	0.855696	B;B;B;B;B;B	0.31705	0.0;0.0;0.336;0.056;0.129;0.075	B;B;B;B;B;B	0.35550	0.001;0.001;0.205;0.012;0.045;0.055	T	0.21861	-1.0233	10	0.09338	T	0.73	.	5.147	0.14991	0.0:0.0941:0.184:0.7219	.	663;650;654;1059;1081;676	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	A	676;1082;1081;1081;1072;1077;1059;663;654;650	ENSP00000361489:T1082A;ENSP00000349932:T1081A;ENSP00000262963:T1077A;ENSP00000269907:T1059A;ENSP00000327313:T650A	ENSP00000262963:T1077A	T	-	1	0	PTPRS	5172225	0.269000	0.24143	0.998000	0.56505	0.908000	0.53690	0.518000	0.22847	1.679000	0.50963	0.459000	0.35465	ACC		0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
PPP5C	5536	broad.mit.edu	37	19	46857094	46857094	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:46857094G>A	ENST00000012443.4	+	2	314	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	71					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.A71T(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCGCAGCCTGGCCTACCTGCG	0.592																																					p.A71T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211A	19						.						62.0	43.0	50.0					19																	46857094		2203	4300	6503	51548934	SO:0001583	missense	5536	exon2				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.211G>A	19.37:g.46857094G>A	ENSP00000012443:p.Ala71Thr		51548934	NM_006247	Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734180	0.69189	.	.	ENSG00000011485	ENST00000012443	T	0.64618	-0.11	5.01	5.01	0.66863	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.063239	0.64402	D	0.000008	T	0.79112	0.4391	M	0.84683	2.71	0.80722	D	1	D;P	0.65815	0.995;0.711	P;B	0.60473	0.875;0.144	T	0.82420	-0.0466	10	0.59425	D	0.04	-19.5651	16.1918	0.81996	0.0:0.0:1.0:0.0	.	71;71	B2R6R6;P53041	.;PPP5_HUMAN	T	71	ENSP00000012443:A71T	ENSP00000012443:A71T	A	+	1	0	PPP5C	51548934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.741000	0.68638	2.490000	0.84030	0.563000	0.77884	GCC		0.592	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
ALDH16A1	126133	broad.mit.edu	37	19	49967707	49967707	+	Silent	SNP	C	C	T	rs111803922	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:49967707C>T	ENST00000293350.4	+	11	1528	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	ALDH16A1_ENST00000455361.2_Silent_p.H404H|ALDH16A1_ENST00000433981.2_Silent_p.H290H|ALDH16A1_ENST00000540132.1_Silent_p.H292H|CTD-3148I10.9_ENST00000599536.1_Missense_Mutation_p.T45M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	455						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.H455H(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCAACGCCCACGGCCTCAGAG	0.642													C|||	39	0.00778754	0.028	0.0029	5008	,	,		13357	0.0		0.0	False		,,,				2504	0.0				p.H455H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1365T	19						.	C	,	100,4304		0,100,2102	25.0	30.0	28.0		1212,1365	-6.9	0.5	19	dbSNP_132	28	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	ALDH16A1	NM_001145396.1,NM_153329.3	,	0,101,6401	TT,TC,CC		0.0116,2.2707,0.7767	,	404/752,455/803	49967707	101,12903	2202	4300	6502	54659519	SO:0001819	synonymous_variant	126133	exon11			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1365C>T	19.37:g.49967707C>T			54659519	NM_153329	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	CCDS12766.1																																																																																				0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329	
TSKS	60385	broad.mit.edu	37	19	50265282	50265282	+	Missense_Mutation	SNP	G	G	T	rs371583588		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:50265282G>T	ENST00000246801.3	-	2	460	c.378C>A	c.(376-378)gaC>gaA	p.D126E	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	126					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.D126E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGATGTCTGCGTCATCCGGAT	0.637																																					p.D126E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C378A	19						.						66.0	62.0	63.0					19																	50265282		2203	4300	6503	54957094	SO:0001583	missense	60385	exon2			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.378C>A	19.37:g.50265282G>T	ENSP00000246801:p.Asp126Glu		54957094	NM_021733	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512287	0.44660	.	.	ENSG00000126467	ENST00000246801	T	0.46819	0.86	4.79	1.53	0.23141	.	0.000000	0.52532	D	0.000079	T	0.44664	0.1304	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.50415	-0.8831	10	0.05959	T	0.93	-30.384	6.8171	0.23837	0.2899:0.0:0.7101:0.0	.	126	Q9UJT2	TSKS_HUMAN	E	126	ENSP00000246801:D126E	ENSP00000246801:D126E	D	-	3	2	TSKS	54957094	1.000000	0.71417	0.998000	0.56505	0.057000	0.15508	1.413000	0.34725	0.264000	0.21851	-0.369000	0.07265	GAC		0.637	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
AP2A1	160	broad.mit.edu	37	19	50303257	50303257	+	Silent	SNP	C	C	T	rs201906388		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:50303257C>T	ENST00000359032.5	+	11	1305	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	AP2A1_ENST00000354293.5_Silent_p.Y435Y	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	435					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.Y435Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCGAGAAGTACGCCGTGGACT	0.617																																					p.Y435Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1305T	19						.						84.0	91.0	89.0					19																	50303257		2135	4239	6374	54995069	SO:0001819	synonymous_variant	160	exon11			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1305C>T	19.37:g.50303257C>T			54995069	NM_130787	Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	CCDS46148.1																																																																																				0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1		
SHANK1	50944	broad.mit.edu	37	19	51189537	51189537	+	Missense_Mutation	SNP	G	G	T	rs143486469		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:51189537G>T	ENST00000293441.1	-	20	2552	c.2534C>A	c.(2533-2535)gCg>gAg	p.A845E	SHANK1_ENST00000359082.3_Missense_Mutation_p.A836E|SHANK1_ENST00000391814.1_Missense_Mutation_p.A853E|SHANK1_ENST00000391813.1_Missense_Mutation_p.A232E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	845					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A845E(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCAGGGACGCGAGGCCACC	0.602																																					p.A845E												.	.	2	Substitution - Missense(2)	large_intestine(1)|liver(1)	c.C2534A	19						.	G	GLU/ALA	1,4405	2.1+/-5.4	0,1,2202	99.0	84.0	89.0		2534	3.9	0.5	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SHANK1	NM_016148.2	107	0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154	possibly-damaging	845/2162	51189537	2,13004	2203	4300	6503	55881349	SO:0001583	missense	50944	exon20			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2534C>A	19.37:g.51189537G>T	ENSP00000293441:p.Ala845Glu		55881349	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278224	0.59758	2.27E-4	1.16E-4	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	3.91	3.91	0.45181	.	0.122413	0.29987	U	0.010695	T	0.54191	0.1843	L	0.57536	1.79	0.35439	D	0.79472	D;D	0.60160	0.987;0.982	P;P	0.51385	0.592;0.668	T	0.67585	-0.5633	10	0.46703	T	0.11	-11.9496	15.211	0.73225	0.0:0.0:1.0:0.0	.	845;232	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	E	845;232;836;853	ENSP00000293441:A845E;ENSP00000375689:A232E;ENSP00000351984:A836E;ENSP00000375690:A853E	ENSP00000293441:A845E	A	-	2	0	SHANK1	55881349	0.903000	0.30736	0.504000	0.27639	0.979000	0.70002	3.834000	0.55798	2.211000	0.71520	0.478000	0.44815	GCG		0.602	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
KLK1	3816	broad.mit.edu	37	19	51322486	51322486	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:51322486C>A	ENST00000301420.2	-	5	788	c.753G>T	c.(751-753)gtG>gtT	p.V251V	CTD-2568A17.5_ENST00000326989.5_lincRNA|KLK1_ENST00000448701.2_Silent_p.V149V	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.V251V(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	CGATCCACTTCACATAAGACA	0.537																																					p.V251V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G753T	19						.						145.0	122.0	130.0					19																	51322486		2203	4300	6503	56014298	SO:0001819	synonymous_variant	3816	exon5			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.753G>T	19.37:g.51322486C>A			56014298	NM_002257	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Silent	SNP	ENST00000301420.2	37	CCDS12804.1																																																																																				0.537	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257	
SIGLECL1	284369	broad.mit.edu	37	19	51768870	51768870	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:51768870G>A	ENST00000316401.7	+	3	652	c.271G>A	c.(271-273)Gga>Aga	p.G91R	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	453	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G91R(1)									GAACCAAAACGGAACCCATGC	0.557																																					p.G91R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271A	19						.						98.0	94.0	95.0					19																	51768870		2203	4300	6503	56460682	SO:0001583	missense	284369	exon3			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.271G>A	19.37:g.51768870G>A	ENSP00000321249:p.Gly91Arg		56460682	NM_173635	Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	G	4.238	0.043122	0.08196	.	.	ENSG00000179213	ENST00000316401	D	0.88741	-2.42	3.83	1.67	0.24075	Immunoglobulin-like fold (1);	0.208574	0.24298	N	0.039760	D	0.92143	0.7509	M	0.75150	2.29	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83414	0.0029	10	0.66056	D	0.02	.	6.3633	0.21441	0.2309:0.0:0.7691:0.0	.	91	Q8N7X8	CS075_HUMAN	R	91	ENSP00000321249:G91R	ENSP00000321249:G91R	G	+	1	0	C19orf75	56460682	0.356000	0.24930	0.009000	0.14445	0.037000	0.13140	1.708000	0.37899	0.407000	0.25591	-1.004000	0.02495	GGA		0.557	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	
CEACAM18	729767	broad.mit.edu	37	19	51983739	51983739	+	Missense_Mutation	SNP	G	G	A	rs371514477		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:51983739G>A	ENST00000396477.4	+	2	226	c.205G>A	c.(205-207)Gca>Aca	p.A69T	CEACAM18_ENST00000451626.1_Missense_Mutation_p.A130T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	69								p.A130T(1)|p.A69T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAACGACAGCGCAGGAAACAT	0.562																																					p.A130T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G388A	19						.						62.0	62.0	62.0					19																	51983739		2034	4190	6224	56675551	SO:0001583	missense	729767	exon3					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.205G>A	19.37:g.51983739G>A	ENSP00000379738:p.Ala69Thr		56675551	NM_001080405	C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37		.	.	.	.	.	.	.	.	.	.	.	4.142	0.024773	0.08054	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.64618	-0.11	2.79	0.64	0.17752	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37919	0.1021	N	0.16266	0.395	0.09310	N	1	B	0.17667	0.023	B	0.17722	0.019	T	0.20940	-1.0260	9	0.13853	T	0.58	0.5418	4.71	0.12868	0.3076:0.0:0.6924:0.0	.	130	A8MTB9	CEA18_HUMAN	T	130;69;69	ENSP00000402203:A130T	ENSP00000379738:A69T	A	+	1	0	CEACAM18	56675551	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.450000	0.21762	0.275000	0.22094	-0.141000	0.14075	GCA		0.562	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
ZNF610	162963	broad.mit.edu	37	19	52856938	52856938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:52856938C>T	ENST00000403906.3	+	4	523	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	ZNF610_ENST00000327920.8_Missense_Mutation_p.R23C|ZNF610_ENST00000601151.1_Missense_Mutation_p.R23C|ZNF610_ENST00000321287.8_Missense_Mutation_p.R23C	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	23					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.R23C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTTTAGGGACGCTTGACATT	0.393																																					p.R23C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	19						.						85.0	87.0	86.0					19																	52856938		2203	4300	6503	57548750	SO:0001583	missense	162963	exon4			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.67C>T	19.37:g.52856938C>T	ENSP00000383922:p.Arg23Cys		57548750	NM_173530	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	6.481	0.456971	0.12283	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T;T	0.00792	5.69;5.69;5.69	1.47	1.47	0.22746	Krueppel-associated box (1);	.	.	.	.	T	0.00608	0.0020	N	0.16903	0.455	0.09310	N	1	B;B	0.31077	0.307;0.204	B;B	0.19666	0.026;0.012	T	0.50440	-0.8828	9	0.45353	T	0.12	.	8.8849	0.35398	0.0:1.0:0.0:0.0	.	23;23	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	C	23	ENSP00000383922:R23C;ENSP00000324441:R23C;ENSP00000327597:R23C	ENSP00000324441:R23C	R	+	1	0	ZNF610	57548750	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.738000	0.04871	1.120000	0.41904	0.563000	0.77884	CGC		0.393	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
FUT3	2525	broad.mit.edu	37	19	5844264	5844264	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:5844264G>A	ENST00000303225.6	-	3	1221	c.587C>T	c.(586-588)gCg>gTg	p.A196V	FUT3_ENST00000589620.1_Missense_Mutation_p.A196V|FUT3_ENST00000589918.1_Missense_Mutation_p.A196V|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.A196V	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	196					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.A196V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTTGGACACCGCCCAGGCCAC	0.667																																					p.A196V	Esophageal Squamous(82;745 1728 24593 44831)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C587T	19						.						40.0	42.0	41.0					19																	5844264		2203	4300	6503	5795264	SO:0001583	missense	2525	exon3				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.587C>T	19.37:g.5844264G>A	ENSP00000305603:p.Ala196Val		5795264	NM_001097640	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.890859	0.00527	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.15952	2.38;2.38	2.2	-0.115	0.13560	.	0.677919	0.13004	N	0.421399	T	0.03651	0.0104	N	0.00980	-1.08	0.23138	N	0.998233	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.001;0.001	T	0.42932	-0.9422	10	0.02654	T	1	.	5.1175	0.14843	0.6482:0.0:0.3518:0.0	.	196;196;196;196	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	V	196	ENSP00000305603:A196V;ENSP00000416443:A196V	ENSP00000305603:A196V	A	-	2	0	FUT3	5795264	0.258000	0.24033	0.954000	0.39281	0.065000	0.16274	0.887000	0.28254	0.085000	0.17107	0.194000	0.17425	GCG		0.667	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149	
ZNF528	84436	broad.mit.edu	37	19	52918557	52918557	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:52918557T>A	ENST00000360465.3	+	7	878	c.452T>A	c.(451-453)aTt>aAt	p.I151N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	151					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.I151N(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTTGAAAAAATTTCTTCCAGT	0.348																																					p.I151N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T452A	19						.						36.0	39.0	38.0					19																	52918557		2198	4299	6497	57610369	SO:0001583	missense	84436	exon7			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.452T>A	19.37:g.52918557T>A	ENSP00000353652:p.Ile151Asn		57610369	NM_032423	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	T	5.806	0.333095	0.11013	.	.	ENSG00000167555	ENST00000360465	T	0.05319	3.46	1.98	-0.425	0.12317	.	.	.	.	.	T	0.08802	0.0218	M	0.75447	2.3	0.09310	N	1	B	0.29341	0.242	B	0.32393	0.145	T	0.28808	-1.0032	9	0.48119	T	0.1	.	4.5233	0.11969	0.0:0.3734:0.0:0.6266	.	151	Q3MIS6	ZN528_HUMAN	N	151	ENSP00000353652:I151N	ENSP00000353652:I151N	I	+	2	0	ZNF528	57610369	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.670000	0.05256	-0.396000	0.07703	-1.055000	0.02315	ATT		0.348	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
NLRP12	91662	broad.mit.edu	37	19	54314260	54314260	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:54314260G>A	ENST00000324134.6	-	3	821	c.653C>T	c.(652-654)gCg>gTg	p.A218V	NLRP12_ENST00000345770.5_Missense_Mutation_p.A218V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A218V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A218V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A218V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A218V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A218V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A218V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	218	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A218V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TATCCCTGCCGCGCCTTGCAT	0.592																																					p.A218V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C653T	19						.						94.0	75.0	81.0					19																	54314260		2203	4300	6503	59006072	SO:0001583	missense	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.653C>T	19.37:g.54314260G>A	ENSP00000319377:p.Ala218Val		59006072	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	9.411	1.080641	0.20309	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	4.25	2.09	0.27110	NACHT nucleoside triphosphatase (1);	0.164317	0.28772	N	0.014193	T	0.66636	0.2809	L	0.28458	0.855	0.80722	D	1	P;P;B;D	0.54047	0.955;0.955;0.081;0.964	B;B;B;B	0.41646	0.271;0.271;0.017;0.362	T	0.62253	-0.6893	10	0.46703	T	0.11	.	7.1888	0.25814	0.2939:0.0:0.7061:0.0	.	218;218;218;218	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	218	ENSP00000319377:A218V;ENSP00000438030:A218V;ENSP00000340473:A218V;ENSP00000346231:A218V;ENSP00000375655:A218V;ENSP00000375653:A218V;ENSP00000375652:A218V	ENSP00000319377:A218V	A	-	2	0	NLRP12	59006072	0.955000	0.32602	0.131000	0.22000	0.292000	0.27327	3.400000	0.52594	0.364000	0.24374	-1.225000	0.01585	GCG		0.592	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
PRKCG	5582	broad.mit.edu	37	19	54409968	54409968	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:54409968G>A	ENST00000263431.3	+	18	2195	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	PRKCG_ENST00000540413.1_Missense_Mutation_p.R638H|PRKCG_ENST00000542049.1_Missense_Mutation_p.R489H|CACNG7_ENST00000391767.1_5'Flank	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	638	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.R638H(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CAGTGTGGCCGCAGCGGCGAG	0.637											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R638H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1913A	19						.						55.0	59.0	58.0					19																	54409968		2202	4300	6502	59101780	SO:0001583	missense	5582	exon18			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1913G>A	19.37:g.54409968G>A	ENSP00000263431:p.Arg638His	1000	59101780	NM_002739	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032206	0.75504	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.54479	0.57;0.57;1.81	4.43	4.43	0.53597	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.52500	0.1738	M	0.71036	2.16	0.40988	D	0.984838	D;D;B	0.61080	0.989;0.987;0.358	B;P;B	0.44673	0.375;0.457;0.006	T	0.61579	-0.7034	9	0.87932	D	0	.	8.7238	0.34456	0.1054:0.0:0.8946:0.0	.	489;638;638	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	H	638;638;489	ENSP00000443493:R638H;ENSP00000263431:R638H;ENSP00000438090:R489H	ENSP00000263431:R638H	R	+	2	0	PRKCG	59101780	0.203000	0.23435	1.000000	0.80357	0.929000	0.56500	1.142000	0.31540	2.192000	0.70111	0.561000	0.74099	CGC		0.637	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
NLRP2	55655	broad.mit.edu	37	19	55494522	55494522	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:55494522G>A	ENST00000543010.1	+	6	1599	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	NLRP2_ENST00000263437.6_Missense_Mutation_p.G483R|NLRP2_ENST00000391721.4_Missense_Mutation_p.G462R|NLRP2_ENST00000448584.2_Missense_Mutation_p.G486R|NLRP2_ENST00000538819.1_Missense_Mutation_p.G462R|NLRP2_ENST00000427260.2_Missense_Mutation_p.G463R|NLRP2_ENST00000339757.7_Missense_Mutation_p.G464R|NLRP2_ENST00000537859.1_Missense_Mutation_p.G464R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	486	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.G486R(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTTCCTGGACGGAGACATCCT	0.617																																					p.G463R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1387A	19						.						37.0	36.0	37.0					19																	55494522		2203	4296	6499	60186334	SO:0001583	missense	55655	exon7			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1456G>A	19.37:g.55494522G>A	ENSP00000445135:p.Gly486Arg		60186334	NM_001174083	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.997322	0.00435	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.73681	-0.74;-0.68;-0.68;-0.74;-0.68;-0.77;-0.68;-0.74	1.9	-0.647	0.11468	.	2.038200	0.02966	N	0.143755	T	0.37839	0.1018	N	0.00413	-1.525	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.006;0.004;0.006;0.004	B;B;B;B;B	0.13407	0.004;0.005;0.004;0.009;0.004	T	0.40059	-0.9583	10	0.11485	T	0.65	.	4.5839	0.12273	0.5258:0.0:0.4742:0.0	.	463;464;483;462;486	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	R	486;462;464;486;464;463;462;483	ENSP00000445135:G486R;ENSP00000375601:G462R;ENSP00000344074:G464R;ENSP00000409370:G486R;ENSP00000440601:G464R;ENSP00000402474:G463R;ENSP00000441133:G462R;ENSP00000263437:G483R	ENSP00000263437:G483R	G	+	1	0	NLRP2	60186334	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	-0.113000	0.10774	-0.181000	0.10619	-0.358000	0.07595	GGA		0.617	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
ZNF667	63934	broad.mit.edu	37	19	56953820	56953820	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:56953820T>C	ENST00000504904.3	-	7	1263	c.544A>G	c.(544-546)Aga>Gga	p.R182G	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.R182G|ZNF667_ENST00000342634.3_Missense_Mutation_p.R310G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	182					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.R182G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAGATCTGTCTGAAAGCTTTT	0.383																																					p.R182G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A544G	19						.						116.0	120.0	119.0					19																	56953820		2202	4300	6502	61645632	SO:0001583	missense	63934	exon5				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.544A>G	19.37:g.56953820T>C	ENSP00000439402:p.Arg182Gly		61645632	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063341	0.36373	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.07444	3.19;3.19;3.19	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.137878	0.33327	N	0.005021	T	0.10508	0.0257	L	0.51422	1.61	0.38908	D	0.957477	P;P	0.43231	0.801;0.458	B;B	0.40741	0.339;0.19	T	0.07271	-1.0781	10	0.48119	T	0.1	-9.8207	12.4572	0.55710	0.0:0.0:0.0:1.0	.	310;182	E7EPS0;Q5HYK9	.;ZN667_HUMAN	G	310;182;182;56	ENSP00000344699:R310G;ENSP00000439402:R182G;ENSP00000292069:R182G	ENSP00000292069:R182G	R	-	1	2	ZNF667	61645632	0.234000	0.23783	0.632000	0.29296	0.063000	0.16089	0.407000	0.21049	2.040000	0.60383	0.482000	0.46254	AGA		0.383	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZNF471	57573	broad.mit.edu	37	19	57036977	57036977	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:57036977C>A	ENST00000308031.5	+	5	1674	c.1541C>A	c.(1540-1542)cCt>cAt	p.P514H	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	514					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.P514H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAGAGAAGCCTTATGAATGT	0.378																																					p.P514H	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1541A	19						.						74.0	79.0	77.0					19																	57036977		2203	4300	6503	61728789	SO:0001583	missense	57573	exon5			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1541C>A	19.37:g.57036977C>A	ENSP00000309161:p.Pro514His		61728789	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064869	0.55432	.	.	ENSG00000196263	ENST00000308031	T	0.17528	2.27	3.31	3.31	0.37934	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45216	0.1331	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49688	-0.8913	9	0.66056	D	0.02	.	7.7387	0.28829	0.0:0.8781:0.0:0.1219	.	514	Q9BX82	ZN471_HUMAN	H	514	ENSP00000309161:P514H	ENSP00000309161:P514H	P	+	2	0	ZNF471	61728789	0.440000	0.25618	0.998000	0.56505	0.920000	0.55202	2.103000	0.41806	1.690000	0.51089	0.462000	0.41574	CCT		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZNF835	90485	broad.mit.edu	37	19	57176276	57176276	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:57176276G>A	ENST00000537055.2	-	2	522	c.291C>T	c.(289-291)agC>agT	p.S97S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	97					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.S119S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCGCTGGCGGCTGTCAGGAT	0.632																																					p.S119S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	19						.						45.0	54.0	51.0					19																	57176276		2118	4250	6368	61868088	SO:0001819	synonymous_variant	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.291C>T	19.37:g.57176276G>A			61868088	NM_001005850	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																				0.632	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
ZIM2	23619	broad.mit.edu	37	19	57286068	57286068	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:57286068G>A	ENST00000391708.3	-	12	2114	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	ZIM2_ENST00000601070.1_Silent_p.C524C|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Silent_p.C524C|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Silent_p.C524C|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Silent_p.C524C	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	524					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.C524C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AACAGTGATCGCACTCAACAG	0.458																																					p.C524C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1572T	19						.						92.0	88.0	89.0					19																	57286068		2203	4300	6503	61977880	SO:0001819	synonymous_variant	23619	exon12			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1572C>T	19.37:g.57286068G>A			61977880	NM_001146326	Q2M3K1	Silent	SNP	ENST00000391708.3	37	CCDS33123.1																																																																																				0.458	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		
ZNF543	125919	broad.mit.edu	37	19	57835090	57835090	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:57835090A>G	ENST00000321545.4	+	2	404	c.59A>G	c.(58-60)cAg>cGg	p.Q20R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	20	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)	p.Q20R(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACATTCACCCAGGAGGAGTGG	0.498																																					p.Q20R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A59G	19						.						169.0	148.0	155.0					19																	57835090		2203	4300	6503	62526902	SO:0001583	missense	125919	exon2			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.59A>G	19.37:g.57835090A>G	ENSP00000322545:p.Gln20Arg		62526902	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	A	8.677	0.904150	0.17760	.	.	ENSG00000178229	ENST00000321545	T	0.01963	4.53	1.51	0.368	0.16146	Krueppel-associated box (4);	.	.	.	.	T	0.01765	0.0056	L	0.28054	0.825	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.47548	-0.9109	9	0.39692	T	0.17	.	3.493	0.07645	0.3334:0.4456:0.0:0.221	.	20	Q08ER8	ZN543_HUMAN	R	20	ENSP00000322545:Q20R	ENSP00000322545:Q20R	Q	+	2	0	ZNF543	62526902	0.000000	0.05858	0.076000	0.20297	0.681000	0.39784	-2.789000	0.00768	0.037000	0.15575	0.383000	0.25322	CAG		0.498	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
ZNF749	388567	broad.mit.edu	37	19	57956612	57956612	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:57956612G>C	ENST00000334181.4	+	3	2346	c.2096G>C	c.(2095-2097)aGt>aCt	p.S699T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	699					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.S612T(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CATGAGTGCAGTAAATGTAGG	0.403																																					p.S699T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2096C	19						.						57.0	56.0	56.0					19																	57956612		2203	4300	6503	62648424	SO:0001583	missense	388567	exon3			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2096G>C	19.37:g.57956612G>C	ENSP00000333980:p.Ser699Thr		62648424	NM_001023561		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599461	0.03744	.	.	ENSG00000186230	ENST00000334181	T	0.15603	2.41	1.66	-3.31	0.04988	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	L	0.47016	1.485	0.09310	N	1	B	0.23128	0.08	B	0.17433	0.018	T	0.33369	-0.9871	9	0.18710	T	0.47	.	4.0564	0.09818	0.4119:0.0:0.3336:0.2545	.	699	O43361	ZN749_HUMAN	T	699	ENSP00000333980:S699T	ENSP00000333980:S699T	S	+	2	0	ZNF749	62648424	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-7.651000	0.00032	-2.288000	0.00668	-1.786000	0.00637	AGT		0.403	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561	
ZNF417	147687	broad.mit.edu	37	19	58419942	58419942	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:58419942A>G	ENST00000312026.5	-	3	1868	c.1704T>C	c.(1702-1704)agT>agC	p.S568S	ZNF417_ENST00000536263.1_Silent_p.S369S|ZNF417_ENST00000595559.1_Silent_p.S567S|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	568					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.S568S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		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;0.0151)		TCCTGTGTGAACTCTGATGAT	0.423																																					p.S568S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1704C	19						.						76.0	78.0	77.0					19																	58419942		2203	4297	6500	63111754	SO:0001819	synonymous_variant	147687	exon3			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1704T>C	19.37:g.58419942A>G			63111754	NM_152475	B4DEU1	Silent	SNP	ENST00000312026.5	37	CCDS12965.1																																																																																				0.423	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475	
INSR	3643	broad.mit.edu	37	19	7166276	7166276	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:7166276T>C	ENST00000302850.5	-	8	1892	c.1750A>G	c.(1750-1752)Aag>Gag	p.K584E	INSR_ENST00000341500.5_Missense_Mutation_p.K584E	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	584					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.K584E(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GTCCAGGGCTTGAGACCCCGC	0.557																																					p.K584E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1750G	19						.						101.0	91.0	95.0					19																	7166276		2203	4300	6503	7117276	SO:0001583	missense	3643	exon8			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1750A>G	19.37:g.7166276T>C	ENSP00000303830:p.Lys584Glu		7117276	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401504	0.83120	.	.	ENSG00000171105	ENST00000302850;ENST00000341500;ENST00000538006	T;T	0.68765	-0.35;-0.35	5.08	5.08	0.68730	Fibronectin, type III (1);	0.000000	0.46145	U	0.000302	T	0.77096	0.4080	M	0.72118	2.19	0.80722	D	1	P;D;P	0.62365	0.943;0.991;0.59	P;P;B	0.59056	0.492;0.851;0.244	T	0.80324	-0.1430	10	0.87932	D	0	.	12.8197	0.57685	0.0:0.0:0.0:1.0	.	575;584;584	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	E	584;584;47	ENSP00000303830:K584E;ENSP00000342838:K584E	ENSP00000303830:K584E	K	-	1	0	INSR	7117276	1.000000	0.71417	0.999000	0.59377	0.728000	0.41692	7.691000	0.84191	1.904000	0.55121	0.533000	0.62120	AAG		0.557	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
INSR	3643	broad.mit.edu	37	19	7184419	7184419	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:7184419C>T	ENST00000302850.5	-	3	1024	c.882G>A	c.(880-882)aaG>aaA	p.K294K	INSR_ENST00000341500.5_Silent_p.K294K	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	294	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.K294K(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCCGCGAGTTCTTGCATTTGT	0.577																																					p.K294K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G882A	19						.						90.0	72.0	78.0					19																	7184419		2203	4300	6503	7135419	SO:0001819	synonymous_variant	3643	exon3			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.882G>A	19.37:g.7184419C>T			7135419	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																				0.577	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
INSR	3643	broad.mit.edu	37	19	7267447	7267447	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:7267447C>T	ENST00000302850.5	-	2	703	c.561G>A	c.(559-561)ccG>ccA	p.P187P	INSR_ENST00000341500.5_Silent_p.P187P	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	187	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.P187P(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCGCGGTACCCGGACAGATGT	0.542																																					p.P187P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G561A	19						.						149.0	111.0	124.0					19																	7267447		2203	4300	6503	7218447	SO:0001819	synonymous_variant	3643	exon2			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.561G>A	19.37:g.7267447C>T			7218447	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																				0.542	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
MCOLN1	57192	broad.mit.edu	37	19	7593557	7593557	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:7593557C>T	ENST00000264079.6	+	8	1077	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	318					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)	p.R318C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCTGCGCCCGCTCACTCCT	0.642																																					p.R318C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C952T	19						.						155.0	95.0	116.0					19																	7593557		2203	4300	6503	7499557	SO:0001583	missense	57192	exon8			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.952C>T	19.37:g.7593557C>T	ENSP00000264079:p.Arg318Cys		7499557	NM_020533	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759057	0.69763	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.84223	-1.82	5.32	5.32	0.75619	.	0.050554	0.85682	D	0.000000	D	0.93232	0.7844	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94229	0.7474	10	0.87932	D	0	.	16.4854	0.84183	0.0:1.0:0.0:0.0	.	283;318	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	C	318;283	ENSP00000264079:R318C	ENSP00000264079:R318C	R	+	1	0	MCOLN1	7499557	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	5.640000	0.67875	2.492000	0.84095	0.563000	0.77884	CGC		0.642	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533	
PNPLA6	10908	broad.mit.edu	37	19	7623830	7623830	+	Frame_Shift_Del	DEL	G	G	-	rs577065342	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:7623830delG	ENST00000221249.6	+	31	3809	c.3378delG	c.(3376-3378)ctgfs	p.L1126fs	PNPLA6_ENST00000545201.2_Frame_Shift_Del_p.L1099fs|PNPLA6_ENST00000450331.3_Frame_Shift_Del_p.L1126fs|PNPLA6_ENST00000414982.3_Frame_Shift_Del_p.L1174fs|PNPLA6_ENST00000600737.1_Frame_Shift_Del_p.L1164fs	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1165	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.S1127fs*10(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGACAGCCTGTCCGGCTGGT	0.622																																					p.L1174fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3522delG	19						.						53.0	47.0	49.0					19																	7623830		2203	4300	6503	7529830	SO:0001589	frameshift_variant	10908	exon30			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3378delG	19.37:g.7623830delG	ENSP00000221249:p.Leu1126fs		7529830	NM_001166111	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Frame_Shift_Del	DEL	ENST00000221249.6	37	CCDS32891.1																																																																																				0.622	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
MYO1F	4542	broad.mit.edu	37	19	8619538	8619538	+	Splice_Site	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:8619538C>T	ENST00000338257.8	-	3	498	c.231G>A	c.(229-231)gcG>gcA	p.A77A		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	77	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A77A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCAGCCTCACCGCGCCCTGAT	0.632																																					p.A77A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	19						.						87.0	85.0	86.0					19																	8619538		1949	4125	6074	8525538	SO:0001630	splice_region_variant	4542	exon3			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.231+1G>A	19.37:g.8619538C>T			8525538	NM_012335	Q8WWN7	Silent	SNP	ENST00000338257.8	37	CCDS42494.1																																																																																				0.632	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		Silent
MUC16	94025	broad.mit.edu	37	19	9059724	9059724	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:9059724A>T	ENST00000397910.4	-	3	27925	c.27722T>A	c.(27721-27723)gTc>gAc	p.V9241D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9243	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V9241D(1)|p.V4874D(1)		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						GTCAGCTAGGACAGAGGAAGG	0.463																																					p.V9241D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T27722A	19						.						94.0	95.0	94.0					19																	9059724		2073	4231	6304	8920724	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.27722T>A	19.37:g.9059724A>T	ENSP00000381008:p.Val9241Asp		8920724	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.033	-0.422033	0.04734	.	.	ENSG00000181143	ENST00000397910	T	0.33865	1.39	1.97	-3.94	0.04130	.	.	.	.	.	T	0.23330	0.0564	L	0.27053	0.805	.	.	.	B	0.24483	0.104	B	0.32533	0.147	T	0.34079	-0.9843	8	0.87932	D	0	.	4.2758	0.10808	0.2595:0.3868:0.3537:0.0	.	9241	B5ME49	.	D	9241	ENSP00000381008:V9241D	ENSP00000381008:V9241D	V	-	2	0	MUC16	8920724	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.296000	0.02762	-1.633000	0.01539	-0.982000	0.02568	GTC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9069072	9069072	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:9069072G>A	ENST00000397910.4	-	3	18577	c.18374C>T	c.(18373-18375)gCt>gTt	p.A6125V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6127	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.A6125V(2)|p.A1758V(1)		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						TGTTGACTGAGCAGAAGCTGG	0.488																																					p.A6125V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C18374T	19						.						56.0	59.0	58.0					19																	9069072		2052	4204	6256	8930072	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.18374C>T	19.37:g.9069072G>A	ENSP00000381008:p.Ala6125Val		8930072	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.059	0.196592	0.09599	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.48	0.413	0.16401	.	.	.	.	.	T	0.02230	0.0069	L	0.27053	0.805	.	.	.	B	0.16603	0.018	B	0.09377	0.004	T	0.37103	-0.9720	8	0.87932	D	0	.	3.6978	0.08371	0.2505:0.0:0.7495:0.0	.	6125	B5ME49	.	V	6125	ENSP00000381008:A6125V	ENSP00000381008:A6125V	A	-	2	0	MUC16	8930072	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.215000	0.09279	0.187000	0.20147	0.379000	0.24179	GCT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9091073	9091073	+	Missense_Mutation	SNP	A	A	T	rs559344549		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:9091073A>T	ENST00000397910.4	-	1	945	c.742T>A	c.(742-744)Tcc>Acc	p.S248T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	248	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.S248T(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						TCACCTCTGGAATTTGGGGTC	0.473																																					p.S248T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T742A	19						.						119.0	118.0	118.0					19																	9091073		1902	4130	6032	8952073	SO:0001583	missense	94025	exon1			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.742T>A	19.37:g.9091073A>T	ENSP00000381008:p.Ser248Thr		8952073	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.860	-0.236316	0.05944	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	1.49	0.443	0.16587	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.37943	0.261	T	0.47509	-0.9112	8	0.87932	D	0	.	3.2469	0.06801	0.7536:0.0:0.2464:0.0	.	248	B5ME49	.	T	248	ENSP00000381008:S248T	ENSP00000381008:S248T	S	-	1	0	MUC16	8952073	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.212000	0.09319	0.073000	0.16731	0.260000	0.18958	TCC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF317	57693	broad.mit.edu	37	19	9270952	9270952	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:9270952C>G	ENST00000247956.6	+	7	936	c.631C>G	c.(631-633)Cag>Gag	p.Q211E	ZNF317_ENST00000360385.3_Missense_Mutation_p.Q179E	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	211					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.Q211E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCACCTCACTCAGCACATGAG	0.577																																					p.Q179E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C535G	19						.						99.0	74.0	83.0					19																	9270952		2203	4300	6503	9131952	SO:0001583	missense	57693	exon6			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.631C>G	19.37:g.9270952C>G	ENSP00000247956:p.Gln211Glu		9131952	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614290	0.03663	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.15139	2.45;3.28	3.34	2.24	0.28232	.	0.000000	0.40144	N	0.001172	T	0.13157	0.0319	L	0.58969	1.84	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.40478	-0.9561	10	0.02654	T	1	-19.5869	9.3391	0.38069	0.0:0.5669:0.4331:0.0	.	179;211	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	E	211;179	ENSP00000247956:Q211E;ENSP00000353554:Q179E	ENSP00000247956:Q211E	Q	+	1	0	ZNF317	9131952	0.001000	0.12720	0.002000	0.10522	0.032000	0.12392	-1.372000	0.02570	0.928000	0.37168	0.591000	0.81541	CAG		0.577	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
ZNF317	57693	broad.mit.edu	37	19	9271885	9271885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:9271885C>T	ENST00000247956.6	+	7	1869	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*	ZNF317_ENST00000360385.3_Nonsense_Mutation_p.R490*	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	522					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.R522*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GACGCACATGCGAAGCCACAC	0.572																																					p.R490X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1468T	19						.						88.0	73.0	78.0					19																	9271885		2203	4300	6503	9132885	SO:0001587	stop_gained	57693	exon6			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1564C>T	19.37:g.9271885C>T	ENSP00000247956:p.Arg522*		9132885	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Nonsense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	38	6.959424	0.97964	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	.	.	.	2.72	0.385	0.16249	.	0.000000	0.41605	D	0.000853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2857	6.9009	0.24283	0.6063:0.3937:0.0:0.0	.	.	.	.	X	522;490	.	ENSP00000247956:R522X	R	+	1	2	ZNF317	9132885	0.000000	0.05858	0.761000	0.31378	0.928000	0.56348	-1.560000	0.02160	0.062000	0.16340	0.591000	0.81541	CGA		0.572	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
DNMT1	1786	broad.mit.edu	37	19	10277348	10277349	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:10277348_10277349delTC	ENST00000340748.4	-	10	1003_1004	c.768_769delGA	c.(766-771)cagaaafs	p.K257fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.K257fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.K273fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	257	Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K257fs*16(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCCTTCAGTTTCTGTTTGGGTG	0.574																																					p.272_273del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.816_817del	19						.																																			10138349	SO:0001589	frameshift_variant	1786	exon11			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.768_769delGA	19.37:g.10277348_10277349delTC	ENSP00000345739:p.Lys257fs		10138348	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	CCDS12228.1																																																																																				0.574	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
RBM42	79171	broad.mit.edu	37	19	36123844	36123844	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:36123844delC	ENST00000262633.4	+	5	554	c.449delC	c.(448-450)gccfs	p.A150fs	RBM42_ENST00000589871.1_Intron|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000588161.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	150						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q152fs*54(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)			ACAGCTGTGGCCCCCCAGAGG	0.627																																					p.A150fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.449delC	19						.						98.0	105.0	103.0					19																	36123844		2203	4300	6503	40815684	SO:0001589	frameshift_variant	79171	exon5			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.449delC	19.37:g.36123844delC	ENSP00000262633:p.Ala150fs		40815684	NM_024321	O00320|Q8N5R7|Q9BU66	Frame_Shift_Del	DEL	ENST00000262633.4	37	CCDS12468.1																																																																																				0.627	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321	
ADCK4	79934	broad.mit.edu	37	19	41220518	41220518	+	Frame_Shift_Del	DEL	C	C	-	rs113871093	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:41220518delC	ENST00000324464.3	-	2	321	c.20delG	c.(19-21)ggcfs	p.G7fs	ADCK4_ENST00000450541.1_Frame_Shift_Del_p.G7fs|ITPKC_ENST00000263370.2_5'Flank|ADCK4_ENST00000243583.6_Frame_Shift_Del_p.G7fs	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	7						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)	p.G7fs*69(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCGAAGTAGGCCCCCCACCTT	0.642																																					p.G7fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.20delG	19						.						34.0	39.0	37.0					19																	41220518		2203	4300	6503	45912358	SO:0001589	frameshift_variant	79934	exon2			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.20delG	19.37:g.41220518delC	ENSP00000315118:p.Gly7fs		45912358	NM_024876	Q8TAJ1|Q9HA52	Frame_Shift_Del	DEL	ENST00000324464.3	37	CCDS12562.1																																																																																				0.642	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	
CIC	23152	broad.mit.edu	37	19	42794469	42794469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:42794469delC	ENST00000575354.2	+	10	1589	c.1549delC	c.(1549-1551)cccfs	p.P518fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.P1427fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.P518fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	518	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P518fs*5(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCCAGGGCCCCCGGATCC	0.627			"""Mis, F, S"""		oligodendroglioma																																p.P517fs			Rec	yes		19	19q13.2	23152	capicua homolog		O	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1549delC	19						.						64.0	64.0	64.0					19																	42794469		2203	4300	6503	47486309	SO:0001589	frameshift_variant	23152	exon10			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1549delC	19.37:g.42794469delC	ENSP00000458663:p.Pro518fs		47486309	NM_015125	Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																				0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
SIX5	147912	broad.mit.edu	37	19	46268908	46268908	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:46268908delG	ENST00000317578.6	-	3	2452	c.2071delC	c.(2071-2073)cacfs	p.H691fs	AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	691					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.H691fs*4(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGCACGGTGTGGGGGGCCTGT	0.687																																					p.H691fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2071delC	19						.						33.0	39.0	37.0					19																	46268908		2203	4299	6502	50960748	SO:0001589	frameshift_variant	147912	exon3			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2071delC	19.37:g.46268908delG	ENSP00000316842:p.His691fs		50960748	NM_175875		Frame_Shift_Del	DEL	ENST00000317578.6	37	CCDS12673.1																																																																																				0.687	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875	
ZNF418	147686	broad.mit.edu	37	19	58437970	58437970	+	Nonsense_Mutation	SNP	G	G	A	rs201554779	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr19:58437970G>A	ENST00000396147.1	-	4	1870	c.1579C>T	c.(1579-1581)Cga>Tga	p.R527*	ZNF418_ENST00000425570.3_Nonsense_Mutation_p.R548*|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.R442*|ZNF418_ENST00000595830.1_Nonsense_Mutation_p.R527*|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	527					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.R527*(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	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;0.0158)		CTCCGATGTCGAAGGAGGGAA	0.453													G|||	3	0.000599042	0.0023	0.0	5008	,	,		23181	0.0		0.0	False		,,,				2504	0.0				p.R527X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1579T	19						.	G	stop/ARG	6,4376		0,6,2185	98.0	100.0	99.0		1579	-4.8	0.0	19		99	0,8588		0,0,4294	yes	stop-gained	ZNF418	NM_133460.1		0,6,6479	AA,AG,GG		0.0,0.1369,0.0463		527/677	58437970	6,12964	2191	4294	6485	63129782	SO:0001587	stop_gained	147686	exon4			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1579C>T	19.37:g.58437970G>A	ENSP00000379451:p.Arg527*		63129782	NM_133460	Q2M1S2|Q670L5|Q96N18	Nonsense_Mutation	SNP	ENST00000396147.1	37	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	38	6.754226	0.97813	0.001369	0.0	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	.	.	.	2.41	-4.82	0.03171	.	.	.	.	.	.	.	.	.	.	.	0.47905	A	0.999543	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	0.1652	0.00107	0.3126:0.2555:0.1744:0.2576	.	.	.	.	X	527;548;493	.	ENSP00000379451:R527X	R	-	1	2	ZNF418	63129782	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-7.592000	0.00033	-1.159000	0.02807	0.313000	0.20887	CGA		0.453	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
DENND4B	9909	broad.mit.edu	37	1	153914473	153914474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:153914473_153914474insC	ENST00000361217.4	-	6	1344_1345	c.926_927insG	c.(925-927)ggcfs	p.G309fs		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	309					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R198fs*70(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCACAGCTCTGCCCCCCAGTGC	0.683																																					p.G309fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.927_928insG	1						.																																			152181098	SO:0001589	frameshift_variant	9909	exon6			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.927dupG	1.37:g.153914479_153914479dupC	ENSP00000354597:p.Gly309fs		152181097	NM_014856	Q5T4K0	Frame_Shift_Ins	INS	ENST00000361217.4	37	CCDS44228.1																																																																																				0.683	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
LRRIQ3	127255	broad.mit.edu	37	1	74621498	74621499	+	Frame_Shift_Ins	INS	-	-	T	rs200030856		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:74621498_74621499insT	ENST00000395089.1	-	3	624_625	c.625_626insA	c.(625-627)attfs	p.I209fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.I101fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.I209fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	209								p.I209fs*2(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						AATTGCATTAATTTTTGAAGTA	0.243																																					p.I209fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.626_627insA	1						.																																			74394087	SO:0001589	frameshift_variant	127255	exon4			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.626dupA	1.37:g.74621503_74621503dupT	ENSP00000378524:p.Ile209fs		74394086	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	CCDS41350.1																																																																																				0.243	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
ARHGEF11	9826	broad.mit.edu	37	1	156916809	156916810	+	Splice_Site	INS	-	-	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:156916809_156916810insG	ENST00000361409.2	-	26	3111		c.e26-2		ARHGEF11_ENST00000315174.8_Splice_Site|ARHGEF11_ENST00000368194.3_Splice_Site|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						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.?(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)					ACCAGGAATCTGGGGCAGGAAG	0.525																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.																																			155183434	SO:0001630	splice_region_variant	9826	.			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.2369-2->C	1.37:g.156916813_156916813dupG			155183433	.	D3DVD0|Q5VY40|Q6PFW2	Splice_Site	INS	ENST00000361409.2	37	CCDS1162.1																																																																																				0.525	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Intron
KIAA1324	57535	broad.mit.edu	37	1	109742559	109742559	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:109742559C>T	ENST00000369939.3	+	19	2768	c.2585C>T	c.(2584-2586)gCt>gTt	p.A862V	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A775V|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	862					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.A862V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGCTCAGTGGCTGACTACCAT	0.567																																					p.A862V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2585T	1						.						65.0	59.0	61.0					1																	109742559		2203	4300	6503	109544082	SO:0001583	missense	57535	exon19			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2585C>T	1.37:g.109742559C>T	ENSP00000358955:p.Ala862Val		109544082	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943319	0.34283	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.14893	2.69;2.47;2.7	6.04	2.06	0.26882	.	0.566998	0.20428	N	0.092537	T	0.02304	0.0071	N	0.24115	0.695	0.09310	N	1	B;P;B;B	0.38767	0.043;0.646;0.043;0.043	B;B;B;B	0.30179	0.054;0.112;0.054;0.054	T	0.41770	-0.9490	10	0.26408	T	0.33	-2.2854	4.5488	0.12098	0.3518:0.4346:0.0:0.2137	.	862;775;862;862	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	V	862;812;775	ENSP00000358955:A862V;ENSP00000393964:A812V;ENSP00000434595:A775V	ENSP00000358955:A862V	A	+	2	0	KIAA1324	109544082	0.000000	0.05858	0.003000	0.11579	0.993000	0.82548	0.495000	0.22483	0.428000	0.26173	0.563000	0.77884	GCT		0.567	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
ATXN7L2	127002	broad.mit.edu	37	1	110032947	110032947	+	Missense_Mutation	SNP	C	C	T	rs185034916	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:110032947C>T	ENST00000369870.3	+	9	1306	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	431								p.R431W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTTTAGCCGCCGGCTGGACCG	0.577											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R431W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1291T	1						.						85.0	78.0	80.0					1																	110032947		2203	4300	6503	109834470	SO:0001583	missense	127002	exon9			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1291C>T	1.37:g.110032947C>T	ENSP00000358886:p.Arg431Trp	1424	109834470	NM_153340		Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498171	0.64186	.	.	ENSG00000162650	ENST00000369870;ENST00000541125;ENST00000369869	T	0.54279	0.58	5.97	5.05	0.67936	.	0.000000	0.64402	D	0.000020	T	0.64962	0.2646	M	0.76170	2.325	0.48762	D	0.999707	D	0.89917	1.0	D	0.87578	0.998	T	0.71656	-0.4527	10	0.87932	D	0	-11.7038	13.8067	0.63236	0.1537:0.8463:0.0:0.0	.	431	Q5T6C5	AT7L2_HUMAN	W	431;431;58	ENSP00000358886:R431W	ENSP00000358885:R58W	R	+	1	2	ATXN7L2	109834470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.026000	0.49689	1.505000	0.48720	0.655000	0.94253	CGG		0.577	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340	
KCNA3	3738	broad.mit.edu	37	1	111216533	111216533	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:111216533G>A	ENST00000369769.2	-	1	1122	c.899C>T	c.(898-900)aCg>aTg	p.T300M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	300					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.T300M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GATGCACAGCGTCTCCACCAC	0.582																																					p.T300M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899T	1						.						78.0	78.0	78.0					1																	111216533		2203	4300	6503	111018056	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.899C>T	1.37:g.111216533G>A	ENSP00000358784:p.Thr300Met		111018056	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103295	0.76983	.	.	ENSG00000177272	ENST00000369769	D	0.98400	-4.91	5.04	5.04	0.67666	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99052	0.9675	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99838	1.1059	10	0.87932	D	0	.	18.3556	0.90356	0.0:0.0:1.0:0.0	.	300	P22001	KCNA3_HUMAN	M	300	ENSP00000358784:T300M	ENSP00000358784:T300M	T	-	2	0	KCNA3	111018056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.337000	0.79520	0.655000	0.94253	ACG		0.582	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
MOV10	4343	broad.mit.edu	37	1	113237421	113237421	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:113237421G>T	ENST00000413052.2	+	10	1913	c.1523G>T	c.(1522-1524)aGg>aTg	p.R508M	MOV10_ENST00000369644.1_Missense_Mutation_p.R452M|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.R508M|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.R508M	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	508					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R508M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAGGCCATGAGGCACATTGTT	0.577																																					p.R508M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1523T	1						.						79.0	70.0	73.0					1																	113237421		2203	4300	6503	113038944	SO:0001583	missense	4343	exon10			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1523G>T	1.37:g.113237421G>T	ENSP00000399797:p.Arg508Met		113038944	NM_020963	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655374	0.47467	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.99	2.38	0.29361	.	0.157146	0.56097	D	0.000025	T	0.68531	0.3011	M	0.63843	1.955	0.80722	D	1	B;B;B	0.30542	0.011;0.284;0.011	B;B;B	0.33392	0.088;0.163;0.088	T	0.67405	-0.5679	10	0.39692	T	0.17	-5.3824	8.4281	0.32742	0.7737:0.0:0.2263:0.0	.	452;508;508	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	M	508;508;508;452;508;446	ENSP00000399797:R508M;ENSP00000358659:R508M;ENSP00000358658:R452M;ENSP00000350028:R508M	ENSP00000285733:R508M	R	+	2	0	MOV10	113038944	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	0.918000	0.28678	0.873000	0.35799	-0.367000	0.07326	AGG		0.577	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
SLC16A1	6566	broad.mit.edu	37	1	113460463	113460463	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:113460463A>C	ENST00000538576.1	-	4	1396	c.565T>G	c.(565-567)Tgt>Ggt	p.C189G	SLC16A1_ENST00000433570.4_Missense_Mutation_p.C189G|SLC16A1_ENST00000369626.3_Missense_Mutation_p.C189G	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	189					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.C189G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CCAGCAACACAGCAGTTTAGT	0.498																																					p.C189G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T565G	1						.						71.0	71.0	71.0					1																	113460463		2203	4300	6503	113261986	SO:0001583	missense	6566	exon4			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.565T>G	1.37:g.113460463A>C	ENSP00000441065:p.Cys189Gly		113261986	NM_001166496	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	CCDS858.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341789	0.81911	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85856	0.1407	10	0.87932	D	0	.	16.0039	0.80344	1.0:0.0:0.0:0.0	.	189;189	Q49A45;P53985	.;MOT1_HUMAN	G	189	ENSP00000358640:C189G;ENSP00000441065:C189G;ENSP00000416167:C189G;ENSP00000445061:C189G;ENSP00000399104:C189G;ENSP00000397106:C189G	ENSP00000358640:C189G	C	-	1	0	SLC16A1	113261986	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.276000	0.95745	2.317000	0.78254	0.460000	0.39030	TGT		0.498	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051	
LRIG2	9860	broad.mit.edu	37	1	113666711	113666711	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:113666711T>C	ENST00000361127.5	+	18	3384	c.3186T>C	c.(3184-3186)agT>agC	p.S1062S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1062					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1062R(1)|p.S1062S(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AAGATGGTAGTGAGGGCACAT	0.438																																					p.S1062S												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	c.T3186C	1						.						84.0	74.0	78.0					1																	113666711		2203	4300	6503	113468234	SO:0001819	synonymous_variant	9860	exon18			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3186T>C	1.37:g.113666711T>C			113468234	NM_014813	Q9NSN2	Silent	SNP	ENST00000361127.5	37	CCDS30808.1																																																																																				0.438	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813	
HIPK1	204851	broad.mit.edu	37	1	114497326	114497326	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:114497326C>A	ENST00000369558.1	+	4	1486	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	HIPK1_ENST00000406344.1_Silent_p.A24A|HIPK1_ENST00000369561.4_Silent_p.A418A|HIPK1_ENST00000369555.2_Silent_p.A418A|HIPK1_ENST00000369559.4_Silent_p.A418A|HIPK1_ENST00000369554.2_Silent_p.A418A|HIPK1_ENST00000369553.1_Silent_p.A24A|HIPK1_ENST00000340480.4_Silent_p.A44A|HIPK1_ENST00000426820.2_Silent_p.A418A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|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)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A418A(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTCAGTGCCGGAACAAAAA	0.418																																					p.A44A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C132A	1						.						124.0	120.0	121.0					1																	114497326		2203	4300	6503	114298849	SO:0001819	synonymous_variant	204851	exon3			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1254C>A	1.37:g.114497326C>A			114298849	NM_198269	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	CCDS867.1																																																																																				0.418	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
SYCP1	6847	broad.mit.edu	37	1	115428882	115428882	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:115428882A>G	ENST00000369522.3	+	14	1382	c.1142A>G	c.(1141-1143)gAa>gGa	p.E381G	SYCP1_ENST00000369518.1_Missense_Mutation_p.E381G	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	381					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.E381G(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGAATTTGAAACTACTGTC	0.294																																					p.E381G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1142G	1						.						79.0	87.0	85.0					1																	115428882		2203	4300	6503	115230405	SO:0001583	missense	6847	exon14			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1142A>G	1.37:g.115428882A>G	ENSP00000358535:p.Glu381Gly		115230405	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833344	0.32421	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.49139	0.79;0.79;0.79	5.83	5.83	0.93111	.	0.434403	0.26244	N	0.025487	T	0.25568	0.0622	L	0.34521	1.04	0.32958	D	0.52065	B;B	0.32653	0.379;0.379	B;B	0.35182	0.197;0.197	T	0.33163	-0.9879	10	0.62326	D	0.03	-6.9846	12.5797	0.56383	1.0:0.0:0.0:0.0	.	381;381	B7ZLS9;Q15431	.;SYCP1_HUMAN	G	381	ENSP00000358535:E381G;ENSP00000410011:E381G;ENSP00000358531:E381G	ENSP00000358531:E381G	E	+	2	0	SYCP1	115230405	1.000000	0.71417	0.998000	0.56505	0.259000	0.26198	5.370000	0.66144	2.216000	0.71823	0.459000	0.35465	GAA		0.294	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
WDR3	10885	broad.mit.edu	37	1	118483461	118483461	+	Silent	SNP	G	G	A	rs147020548	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:118483461G>A	ENST00000349139.5	+	7	734	c.687G>A	c.(685-687)ccG>ccA	p.P229P	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	229						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P229P(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGAAGACCCGGAAGAACCAG	0.408																																					p.P229P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G687A	1						.						112.0	124.0	120.0					1																	118483461		2203	4300	6503	118284984	SO:0001819	synonymous_variant	10885	exon7			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.687G>A	1.37:g.118483461G>A			118284984	NM_006784		Silent	SNP	ENST00000349139.5	37	CCDS898.1																																																																																				0.408	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	
VPS13D	55187	broad.mit.edu	37	1	12364572	12364572	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:12364572C>T	ENST00000358136.3	+	26	6356	c.6226C>T	c.(6226-6228)Cct>Tct	p.P2076S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P2076S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.P2076S(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATCTGTGCCTTCAGCTTC	0.517																																					p.P2076S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6226T	1						.						35.0	35.0	35.0					1																	12364572		2203	4300	6503	12287159	SO:0001583	missense	55187	exon26			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6226C>T	1.37:g.12364572C>T	ENSP00000350854:p.Pro2076Ser		12287159	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934804	0.52866	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50277	0.75;0.75	5.83	5.83	0.93111	.	0.244527	0.42294	D	0.000732	T	0.35068	0.0919	N	0.22421	0.69	0.80722	D	1	B;B	0.25904	0.137;0.085	B;B	0.25140	0.058;0.026	T	0.12372	-1.0550	10	0.15499	T	0.54	.	16.845	0.85978	0.0:1.0:0.0:0.0	.	2076;2076	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	S	2076	ENSP00000348666:P2076S;ENSP00000350854:P2076S	ENSP00000348666:P2076S	P	+	1	0	VPS13D	12287159	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.109000	0.50345	2.755000	0.94549	0.561000	0.74099	CCT		0.517	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VPS13D	55187	broad.mit.edu	37	1	12429598	12429598	+	Missense_Mutation	SNP	A	A	G	rs200873224		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:12429598A>G	ENST00000358136.3	+	54	10779	c.10649A>G	c.(10648-10650)gAt>gGt	p.D3550G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D3525G|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.D3550G(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTTCATTGGATTATGCCTGG	0.507													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17228	0.0		0.0	False		,,,				2504	0.0				p.D3525G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10574G	1						.						147.0	148.0	148.0					1																	12429598		2203	4300	6503	12352185	SO:0001583	missense	55187	exon53			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10649A>G	1.37:g.12429598A>G	ENSP00000350854:p.Asp3550Gly		12352185	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	14.80|14.80	2.642607|2.642607	0.47153|0.47153	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.32023|.	1.47;1.47|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Vacuolar protein sorting-associated protein (1);|.	0.102748|.	0.64402|.	D|.	0.000001|.	T|T	0.69691|0.69691	0.3139|0.3139	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B|.	0.23316|.	0.083;0.037|.	B;B|.	0.32724|.	0.093;0.151|.	T|T	0.67333|0.67333	-0.5697|-0.5697	10|5	0.25751|.	T|.	0.34|.	.|.	16.1044|16.1044	0.81212|0.81212	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3525;3549|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	G|V	3525;3550|2372	ENSP00000348666:D3525G;ENSP00000350854:D3550G|.	ENSP00000348666:D3525G|.	D|I	+|+	2|1	0|0	VPS13D|VPS13D	12352185|12352185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.922000|8.922000	0.92789|0.92789	2.277000|2.277000	0.76020|0.76020	0.529000|0.529000	0.55759|0.55759	GAT|ATT		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
AADACL4	343066	broad.mit.edu	37	1	12726293	12726293	+	Silent	SNP	G	G	A	rs151073812		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:12726293G>A	ENST00000376221.1	+	4	771	c.771G>A	c.(769-771)ctG>ctA	p.L257L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	257						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.L257L(1)		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)		GTAACTATCTGGCCATTGACC	0.512																																					p.L257L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G771A	1						.	G		1,4405	2.1+/-5.4	0,1,2202	154.0	151.0	152.0		771	1.3	0.0	1	dbSNP_134	152	0,8600		0,0,4300	no	coding-synonymous	AADACL4	NM_001013630.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		257/408	12726293	1,13005	2203	4300	6503	12648880	SO:0001819	synonymous_variant	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.771G>A	1.37:g.12726293G>A			12648880	NM_001013630		Silent	SNP	ENST00000376221.1	37	CCDS30590.1																																																																																				0.512	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
HNRNPCL1	343069	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473																																					p.A35A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G105A	1						.						166.0	154.0	158.0					1																	12908038		2203	4300	6503	12830625	SO:0001819	synonymous_variant	343069	exon2			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.105G>A	1.37:g.12908038C>T			12830625	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																				0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
SPAG17	200162	broad.mit.edu	37	1	118623840	118623840	+	Missense_Mutation	SNP	T	T	G	rs181235944		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:118623840T>G	ENST00000336338.5	-	15	2158	c.2093A>C	c.(2092-2094)gAt>gCt	p.D698A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	698						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D698A(1)|p.D698G(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)		ATTGTTAGCATCACACTGACT	0.398																																					p.D698A												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.A2093C	1						.						186.0	170.0	175.0					1																	118623840		2203	4300	6503	118425363	SO:0001583	missense	200162	exon15				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.2093A>C	1.37:g.118623840T>G	ENSP00000337804:p.Asp698Ala		118425363	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	7.856	0.725035	0.15439	.	.	ENSG00000155761	ENST00000336338	T	0.19250	2.16	3.89	-1.29	0.09288	.	0.641465	0.15262	N	0.271714	T	0.03827	0.0108	L	0.27053	0.805	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.37619	-0.9698	10	0.49607	T	0.09	.	4.0525	0.09801	0.0:0.3093:0.182:0.5088	.	698	Q6Q759	SPG17_HUMAN	A	698	ENSP00000337804:D698A	ENSP00000337804:D698A	D	-	2	0	SPAG17	118425363	0.002000	0.14202	0.009000	0.14445	0.015000	0.08874	-0.452000	0.06787	-0.236000	0.09753	0.482000	0.46254	GAT		0.398	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
ITGA10	8515	broad.mit.edu	37	1	145532773	145532773	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:145532773C>T	ENST00000369304.3	+	10	1267	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	ITGA10_ENST00000538811.1_Silent_p.N233N|ITGA10_ENST00000539363.1_Silent_p.N221N	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	364					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.N364N(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGCAGAAAACGAAAGCTCCT	0.478																																					p.N364N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1092T	1						.						113.0	111.0	112.0					1																	145532773		2203	4300	6503	144244130	SO:0001819	synonymous_variant	8515	exon10			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1092C>T	1.37:g.145532773C>T			144244130	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	CCDS918.1																																																																																				0.478	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
GPR89A	653519	broad.mit.edu	37	1	145771641	145771641	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:145771641T>C	ENST00000313835.9	-	11	1142	c.999A>G	c.(997-999)caA>caG	p.Q333Q	GPR89A_ENST00000462900.2_Silent_p.Q308Q|GPR89A_ENST00000534502.1_Silent_p.Q308Q|GPR89A_ENST00000454423.3_Silent_p.Q213Q|GPR89A_ENST00000478703.1_5'UTR			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	333					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)	p.Q333Q(1)		breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TTACATCAAATTGGATTCCCA	0.348																																					p.Q308Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A924G	1						.						78.0	95.0	90.0					1																	145771641		2202	4286	6488	144482998	SO:0001819	synonymous_variant	653519	exon12			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.999A>G	1.37:g.145771641T>C			144482998	NM_001097613	A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000313835.9	37	CCDS41377.1																																																																																				0.348	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612	
SETDB1	9869	broad.mit.edu	37	1	150921648	150921648	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:150921648G>A	ENST00000271640.5	+	11	1508	c.1318G>A	c.(1318-1320)Ggt>Agt	p.G440S	SETDB1_ENST00000368969.4_Missense_Mutation_p.G440S|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	440					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.G440S(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGATCTGACCGGTACTGGAAC	0.542																																					p.G440S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318A	1						.						80.0	69.0	73.0					1																	150921648		2203	4300	6503	149188272	SO:0001583	missense	9869	exon11			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1318G>A	1.37:g.150921648G>A	ENSP00000271640:p.Gly440Ser		149188272	NM_001145415	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198323	0.22037	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.86865	-2.18;1.57;-2.18;1.31	5.3	1.53	0.23141	.	0.195184	0.53938	N	0.000049	T	0.48519	0.1504	N	0.08118	0	0.80722	D	1	B;B;B;B	0.23540	0.087;0.003;0.004;0.002	B;B;B;B	0.15484	0.013;0.005;0.003;0.001	T	0.40887	-0.9539	10	0.09843	T	0.71	.	7.0267	0.24944	0.3892:0.0:0.6108:0.0	.	440;440;440;440	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	S	440	ENSP00000271640:G440S;ENSP00000436148:G440S;ENSP00000357965:G440S;ENSP00000432348:G440S	ENSP00000271640:G440S	G	+	1	0	SETDB1	149188272	0.862000	0.29867	0.786000	0.31890	0.873000	0.50193	1.368000	0.34216	0.308000	0.22923	-0.312000	0.09012	GGT		0.542	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
GABPB2	126626	broad.mit.edu	37	1	151090497	151090497	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:151090497A>G	ENST00000368918.3	+	9	1443	c.1112A>G	c.(1111-1113)tAc>tGc	p.Y371C	GABPB2_ENST00000368917.1_Missense_Mutation_p.Y333C|GABPB2_ENST00000368916.1_Missense_Mutation_p.Y333C|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	371					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)	p.Y371C(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GCCCAGGAATACCGACACCAG	0.498																																					p.Y371C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1112G	1						.						106.0	101.0	103.0					1																	151090497		2203	4300	6503	149357121	SO:0001583	missense	126626	exon9				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.1112A>G	1.37:g.151090497A>G	ENSP00000357914:p.Tyr371Cys		149357121	NM_144618	B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	CCDS983.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014403	0.54468	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.72505	-0.5;-0.66;-0.66	5.65	5.65	0.86999	.	0.057188	0.64402	D	0.000001	T	0.77391	0.4123	M	0.62723	1.935	0.46798	D	0.999207	P;D	0.89917	0.521;1.0	B;D	0.70935	0.414;0.971	T	0.80596	-0.1312	10	0.87932	D	0	-8.1539	13.8738	0.63638	1.0:0.0:0.0:0.0	.	371;371	B2R924;Q8TAK5	.;GABP2_HUMAN	C	371;333;318;333	ENSP00000357914:Y371C;ENSP00000357913:Y333C;ENSP00000357912:Y333C	ENSP00000357912:Y333C	Y	+	2	0	GABPB2	149357121	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.148000	0.71788	2.371000	0.80710	0.533000	0.62120	TAC		0.498	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618	
CGN	57530	broad.mit.edu	37	1	151493099	151493099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:151493099G>A	ENST00000271636.7	+	5	1205	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	352	Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.V358M(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTAAGGCCGTGGCAGGGCA	0.557																																					p.V358M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1072A	1						.						75.0	67.0	69.0					1																	151493099		2203	4300	6503	149759723	SO:0001583	missense	57530	exon5			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1072G>A	1.37:g.151493099G>A	ENSP00000271636:p.Val358Met		149759723	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	3.546	-0.092604	0.07053	.	.	ENSG00000143375	ENST00000271636	T	0.64991	-0.13	4.97	-1.66	0.08265	.	1.472210	0.03828	N	0.268603	T	0.13586	0.0329	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.07158	-1.0787	10	0.39692	T	0.17	-0.3191	1.5135	0.02501	0.5046:0.1722:0.1163:0.2069	.	352	Q9P2M7	CING_HUMAN	M	358	ENSP00000271636:V358M	ENSP00000271636:V358M	V	+	1	0	CGN	149759723	0.035000	0.19736	0.049000	0.19019	0.002000	0.02628	-0.096000	0.11059	-0.078000	0.12730	-0.302000	0.09304	GTG		0.557	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
TCHHL1	126637	broad.mit.edu	37	1	152058504	152058504	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:152058504T>G	ENST00000368806.1	-	3	1718	c.1654A>C	c.(1654-1656)Agc>Cgc	p.S552R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	552							calcium ion binding (GO:0005509)	p.S552R(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GAAGCCAGGCTGTTGGGAGTT	0.552																																					p.S552R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1654C	1						.						123.0	117.0	119.0					1																	152058504		2203	4300	6503	150325128	SO:0001583	missense	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1654A>C	1.37:g.152058504T>G	ENSP00000357796:p.Ser552Arg		150325128	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.943797	0.53079	.	.	ENSG00000182898	ENST00000368806	T	0.29142	1.58	4.88	1.3	0.21679	.	0.138738	0.33309	N	0.005044	T	0.20251	0.0487	L	0.52573	1.65	0.09310	N	1	D	0.62365	0.991	P	0.60949	0.881	T	0.08452	-1.0721	10	0.21540	T	0.41	-1.9339	6.2358	0.20762	0.0:0.3012:0.0:0.6988	.	552	Q5QJ38	TCHL1_HUMAN	R	552	ENSP00000357796:S552R	ENSP00000357796:S552R	S	-	1	0	TCHHL1	150325128	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.040000	0.12104	0.395000	0.25257	0.533000	0.62120	AGC		0.552	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
TCHH	7062	broad.mit.edu	37	1	152081688	152081688	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:152081688G>A	ENST00000368804.1	-	2	4004	c.4005C>T	c.(4003-4005)gaC>gaT	p.D1335D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1335	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.D1335D(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAATTTTCTGTCTGTCTCTT	0.547																																					p.D1335D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4005T	1						.						137.0	144.0	142.0					1																	152081688		1900	4118	6018	150348312	SO:0001819	synonymous_variant	7062	exon2			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4005C>T	1.37:g.152081688G>A			150348312	NM_007113	Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																				0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
CRNN	49860	broad.mit.edu	37	1	152383266	152383266	+	Missense_Mutation	SNP	C	C	T	rs140311780		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:152383266C>T	ENST00000271835.3	-	3	354	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	98					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.G98S(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGAGAGCCGCAGGCTCCC	0.577																																					p.G98S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	1						.	C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	107.0	122.0	117.0		292	2.6	0.1	1	dbSNP_134	117	0,8600		0,0,4300	yes	missense	CRNN	NM_016190.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	98/496	152383266	1,13005	2203	4300	6503	150649890	SO:0001583	missense	49860	exon3			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.292G>A	1.37:g.152383266C>T	ENSP00000271835:p.Gly98Ser		150649890	NM_016190	B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	0.753	-0.772128	0.02951	2.27E-4	0.0	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.07114	3.22	4.63	2.62	0.31277	.	0.795303	0.10941	N	0.617287	T	0.02342	0.0072	M	0.67397	2.05	0.09310	N	0.999999	B	0.14012	0.009	B	0.08055	0.003	T	0.51020	-0.8758	10	0.06099	T	0.92	.	8.0573	0.30612	0.0:0.7742:0.0:0.2258	.	98	Q9UBG3	CRNN_HUMAN	S	98	ENSP00000271835:G98S	ENSP00000271835:G98S	G	-	1	0	CRNN	150649890	0.744000	0.28250	0.072000	0.20136	0.041000	0.13682	0.751000	0.26348	0.104000	0.17725	-1.842000	0.00583	GGC		0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190	
SPRR2A	6700	broad.mit.edu	37	1	153029158	153029158	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:153029158G>A	ENST00000392653.2	-	2	139	c.54C>T	c.(52-54)tgC>tgT	p.C18C		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	18					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.C18C(1)		large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGGCGTGGGGCACACAGGAG	0.592																																					p.C18C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	1						.						24.0	25.0	25.0					1																	153029158		2199	4269	6468	151295782	SO:0001819	synonymous_variant	6700	exon2			X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.54C>T	1.37:g.153029158G>A			151295782	NM_005988	B2R4T3|D3DV35|Q5T529	Silent	SNP	ENST00000392653.2	37	CCDS1034.1																																																																																				0.592	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	NM_005988	
S100A2	6273	broad.mit.edu	37	1	153536275	153536275	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:153536275T>G	ENST00000368708.3	-	2	448	c.76A>C	c.(76-78)Aag>Cag	p.K26Q	S100A2_ENST00000368707.4_Missense_Mutation_p.K26Q|S100A2_ENST00000368710.1_Missense_Mutation_p.K26Q|S100A2_ENST00000497140.1_5'UTR|S100A2_ENST00000368709.1_Missense_Mutation_p.K26Q|S100A2_ENST00000487430.2_Missense_Mutation_p.K26Q	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	27	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.K26Q(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	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)		Olopatadine(DB00768)	AGCTTGAACTTGTCGCCCTCT	0.582																																					p.K26Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A76C	1						.						156.0	133.0	141.0					1																	153536275		2203	4300	6503	151802899	SO:0001583	missense	6273	exon2			BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.76A>C	1.37:g.153536275T>G	ENSP00000357697:p.Lys26Gln		151802899	NM_005978	O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	ENST00000368708.3	37	CCDS1044.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242961	0.79912	.	.	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.14766	2.48;2.48;2.48	5.43	4.23	0.50019	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.270340	0.28125	N	0.016502	T	0.18800	0.0451	.	.	.	0.33399	D	0.577137	D	0.65815	0.995	D	0.63283	0.913	T	0.01951	-1.1241	9	0.66056	D	0.02	.	8.7605	0.34672	0.0:0.0:0.1911:0.8089	.	27	P29034	S10A2_HUMAN	Q	26	ENSP00000357697:K26Q;ENSP00000357699:K26Q;ENSP00000357698:K26Q	ENSP00000357696:K26Q	K	-	1	0	S100A2	151802899	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	3.796000	0.55507	2.071000	0.62044	0.533000	0.62120	AAG		0.582	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978	
PBXIP1	57326	broad.mit.edu	37	1	154924334	154924334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:154924334G>A	ENST00000368463.3	-	3	186	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Nonsense_Mutation_p.Q39*|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Nonsense_Mutation_p.Q10*	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	39					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.Q39*(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	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)			TGAGGGGCCTGCAGGGCTCTC	0.587																																					p.Q39X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C115T	1						.						115.0	121.0	119.0					1																	154924334		2203	4300	6503	153190958	SO:0001587	stop_gained	57326	exon3			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.115C>T	1.37:g.154924334G>A	ENSP00000357448:p.Gln39*		153190958	NM_020524	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Nonsense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042308	0.35989	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	.	.	.	4.67	1.74	0.24563	.	1.095830	0.07120	N	0.843794	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.3962	3.9578	0.09398	0.1993:0.0:0.6132:0.1875	.	.	.	.	X	10;39;39;39	.	ENSP00000295523:Q39X	Q	-	1	0	PBXIP1	153190958	0.004000	0.15560	0.000000	0.03702	0.017000	0.09413	1.417000	0.34770	0.191000	0.20236	-0.324000	0.08512	CAG		0.587	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	
ASH1L	55870	broad.mit.edu	37	1	155313140	155313140	+	Missense_Mutation	SNP	G	G	A	rs202229139		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:155313140G>A	ENST00000368346.3	-	24	8912	c.8273C>T	c.(8272-8274)aCc>aTc	p.T2758I	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.T2753I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2758	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T2753I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACACAGCAGGTCCCCACTAC	0.488																																					p.T2753I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8258T	1						.						105.0	102.0	103.0					1																	155313140		2203	4300	6503	153579764	SO:0001583	missense	55870	exon24			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8273C>T	1.37:g.155313140G>A	ENSP00000357330:p.Thr2758Ile		153579764	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.447367	0.84101	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.85629	-2.01;-2.01	5.3	5.3	0.74995	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	N	0.12182	0.205	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69824	0.966;0.943	T	0.82924	-0.0216	10	0.34782	T	0.22	.	18.7281	0.91722	0.0:0.0:1.0:0.0	.	2758;2753	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	I	2758;2753	ENSP00000357330:T2758I;ENSP00000376204:T2753I	ENSP00000357330:T2758I	T	-	2	0	ASH1L	153579764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.495000	0.73665	2.757000	0.94681	0.561000	0.74099	ACC		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
SLC25A44	9673	broad.mit.edu	37	1	156169732	156169732	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:156169732C>A	ENST00000359511.4	+	2	266	c.94C>A	c.(94-96)Cgt>Agt	p.R32S	SLC25A44_ENST00000423538.2_Missense_Mutation_p.R32S|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	32					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R32S(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					AATGATGATCCGTGTCAGTGT	0.512																																					p.R32S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C94A	1						.						197.0	187.0	190.0					1																	156169732		2203	4300	6503	154436356	SO:0001583	missense	9673	exon2			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.94C>A	1.37:g.156169732C>A	ENSP00000352497:p.Arg32Ser		154436356	NM_014655	O75034	Missense_Mutation	SNP	ENST00000359511.4	37	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311362	0.81358	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	T;T	0.78481	-1.18;-1.18	5.99	4.08	0.47627	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	L	0.35723	1.085	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	0.76008	-0.3116	10	0.51188	T	0.08	-27.463	9.1471	0.36939	0.1505:0.7727:0.0:0.0768	.	32;32;32	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	S	32	ENSP00000352497:R32S;ENSP00000407560:R32S	ENSP00000352497:R32S	R	+	1	0	SLC25A44	154436356	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	4.746000	0.62133	0.822000	0.34565	0.655000	0.94253	CGT		0.512	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655	
RHBG	57127	broad.mit.edu	37	1	156354330	156354330	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:156354330A>G	ENST00000368249.1	+	9	1285	c.1247A>G	c.(1246-1248)aAg>aGg	p.K416R	RHBG_ENST00000494874.1_Intron|RHBG_ENST00000255013.3_Missense_Mutation_p.K347R|RHBG_ENST00000368246.2_Missense_Mutation_p.K416R|RHBG_ENST00000400992.2_Missense_Mutation_p.K384R	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	416	Interaction with ANK3.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.K416R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCCTGCTGAAGCTACCCTTT	0.627											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K416R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1247G	1						.						70.0	80.0	77.0					1																	156354330		1979	4141	6120	154620954	SO:0001583	missense	57127	exon9			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1247A>G	1.37:g.156354330A>G	ENSP00000357232:p.Lys416Arg	1777	154620954	NM_020407	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		.	.	.	.	.	.	.	.	.	.	A	12.11	1.840354	0.32513	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.94	-4.23	0.03789	Ammonium transporter AmtB-like (3);	0.274240	0.40469	N	0.001096	T	0.05547	0.0146	N	0.21617	0.685	0.80722	D	1	B;B;B	0.16603	0.001;0.015;0.018	B;B;B	0.25405	0.004;0.017;0.06	T	0.28490	-1.0042	10	0.21014	T	0.42	-14.0859	12.152	0.54055	0.6518:0.0:0.3482:0.0	.	416;384;453	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	R	416;416;384;347	ENSP00000357232:K416R;ENSP00000357229:K416R;ENSP00000383777:K384R;ENSP00000255013:K347R	ENSP00000255013:K347R	K	+	2	0	RHBG	154620954	0.179000	0.23135	0.130000	0.21974	0.951000	0.60555	-0.771000	0.04699	-0.986000	0.03498	0.459000	0.35465	AAG		0.627	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395	
LRRC71	149499	broad.mit.edu	37	1	156899084	156899084	+	Nonsense_Mutation	SNP	C	C	T	rs539763262		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:156899084C>T	ENST00000337428.7	+	10	1163	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	337								p.R337*(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						CTCCTCCTCTCGACACGGGGA	0.537																																					p.R337X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1009T	1						.						44.0	44.0	44.0					1																	156899084		1975	4162	6137	155165708	SO:0001587	stop_gained	149499	exon10			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1009C>T	1.37:g.156899084C>T	ENSP00000336661:p.Arg337*		155165708	NM_144702	Q96M24	Nonsense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857901	0.51376	.	.	ENSG00000160838	ENST00000337428	.	.	.	4.22	1.13	0.20643	.	0.000000	0.44688	D	0.000440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3321	9.8045	0.40783	0.5425:0.4575:0.0:0.0	.	.	.	.	X	337	.	ENSP00000336661:R337X	R	+	1	2	LRRC71	155165708	0.140000	0.22579	0.094000	0.20943	0.016000	0.09150	0.673000	0.25203	0.040000	0.15660	-1.383000	0.01170	CGA		0.537	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702	
FCRL3	115352	broad.mit.edu	37	1	157660311	157660311	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:157660311C>T	ENST00000368184.3	-	9	1715	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R475H	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	475						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R475H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGGACGGGGCGAGACACCGG	0.532																																					p.R475H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1424A	1						.						37.0	41.0	40.0					1																	157660311		2203	4299	6502	155926935	SO:0001583	missense	115352	exon9			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1424G>A	1.37:g.157660311C>T	ENSP00000357167:p.Arg475His		155926935	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	3.051	-0.195466	0.06259	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03496	3.91;3.91	4.47	-1.65	0.08291	.	0.979321	0.08313	N	0.965067	T	0.01124	0.0037	L	0.48218	1.51	0.09310	N	1	B;B;B	0.33748	0.25;0.423;0.211	B;B;B	0.28139	0.086;0.07;0.052	T	0.44620	-0.9316	10	0.28530	T	0.3	.	8.5157	0.33244	0.0:0.455:0.0:0.545	.	475;380;475	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	H	475	ENSP00000357169:R475H;ENSP00000357167:R475H	ENSP00000292392:R475H	R	-	2	0	FCRL3	155926935	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.068000	0.03447	-0.204000	0.10235	0.655000	0.94253	CGC		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
FCRL3	115352	broad.mit.edu	37	1	157665358	157665358	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:157665358C>A	ENST00000368184.3	-	8	1463	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R391M	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	391	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R391M(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGTGTGGGCCCTGGGAGCCCT	0.562																																					p.R391M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1172T	1						.						42.0	43.0	43.0					1																	157665358		2203	4300	6503	155931982	SO:0001583	missense	115352	exon8			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1172G>T	1.37:g.157665358C>A	ENSP00000357167:p.Arg391Met		155931982	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428779	0.25726	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03181	4.02;4.02	5.56	2.06	0.26882	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.964181	0.08501	N	0.936459	T	0.07593	0.0191	M	0.84433	2.695	0.09310	N	1	D;P;D	0.71674	0.998;0.837;0.998	D;P;D	0.64687	0.928;0.852;0.917	T	0.20140	-1.0284	10	0.59425	D	0.04	.	5.4878	0.16759	0.1632:0.6435:0.0:0.1932	.	391;296;391	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	M	391	ENSP00000357169:R391M;ENSP00000357167:R391M	ENSP00000292392:R391M	R	-	2	0	FCRL3	155931982	0.000000	0.05858	0.046000	0.18839	0.004000	0.04260	0.651000	0.24873	0.640000	0.30582	0.655000	0.94253	AGG		0.562	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
OR10X1	128367	broad.mit.edu	37	1	158549453	158549453	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:158549453A>G	ENST00000368150.1	-	1	236	c.237T>C	c.(235-237)ctT>ctC	p.L79L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L79L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAGTGCACTAAGGAAGAGAT	0.493																																					p.L79L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T237C	1						.						122.0	114.0	116.0					1																	158549453		2203	4300	6503	156816077	SO:0001819	synonymous_variant	128367	exon1			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.237T>C	1.37:g.158549453A>G			156816077	NM_001004477	Q6IFR8	Silent	SNP	ENST00000368150.1	37	CCDS30900.1																																																																																				0.493	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
ITLN2	142683	broad.mit.edu	37	1	160924238	160924238	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:160924238C>A	ENST00000368029.3	-	2	75	c.18G>T	c.(16-18)agG>agT	p.R6S		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	6						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R6S(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGTCATTGTCCTCTAAGGAA	0.488											OREG0013934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R6S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G18T	1						.						131.0	116.0	121.0					1																	160924238		2202	4299	6501	159190862	SO:0001583	missense	142683	exon2			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.18G>T	1.37:g.160924238C>A	ENSP00000357008:p.Arg6Ser	1812	159190862	NM_080878	Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	3.328	-0.137257	0.06711	.	.	ENSG00000158764	ENST00000368029	T	0.17691	2.26	3.74	-2.12	0.07165	.	1.051650	0.07720	U	0.943447	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.15052	0.012;0.012	T	0.46527	-0.9185	10	0.23302	T	0.38	.	2.582	0.04821	0.4645:0.2855:0.1519:0.0981	.	6;6	A6NI51;Q8WWU7	.;ITLN2_HUMAN	S	6	ENSP00000357008:R6S	ENSP00000357008:R6S	R	-	3	2	ITLN2	159190862	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.469000	0.06648	-0.408000	0.07565	-0.314000	0.08810	AGG		0.488	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878	
PVRL4	81607	broad.mit.edu	37	1	161049577	161049577	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:161049577A>C	ENST00000368012.3	-	2	544	c.242T>G	c.(241-243)cTa>cGa	p.L81R		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	81	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L81R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGAGTGCAGTAGCGCTAGTTC	0.677																																					p.L81R	NSCLC(76;1160 1387 14476 16172 29359)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T242G	1						.						44.0	45.0	45.0					1																	161049577		2203	4299	6502	159316201	SO:0001583	missense	81607	exon2			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.242T>G	1.37:g.161049577A>C	ENSP00000356991:p.Leu81Arg		159316201	NM_030916	B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.421118	0.62622	.	.	ENSG00000143217	ENST00000368012	T	0.66280	-0.2	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.148635	0.31082	N	0.008290	T	0.70465	0.3227	M	0.62723	1.935	0.40862	D	0.983847	D	0.89917	1.0	D	0.91635	0.999	T	0.75348	-0.3349	10	0.72032	D	0.01	.	13.585	0.61926	1.0:0.0:0.0:0.0	.	81	Q96NY8	PVRL4_HUMAN	R	81	ENSP00000356991:L81R	ENSP00000356991:L81R	L	-	2	0	PVRL4	159316201	0.652000	0.27349	0.857000	0.33713	0.660000	0.38997	3.900000	0.56295	2.081000	0.62600	0.528000	0.53228	CTA		0.677	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
RSG1	79363	broad.mit.edu	37	1	16558772	16558772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:16558772G>A	ENST00000375599.3	-	5	967	c.548C>T	c.(547-549)aCg>aTg	p.T183M	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	183	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)	p.T183M(1)		large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGGCACGTCCGTGTGCATGTA	0.677																																					p.T183M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C548T	1						.						15.0	21.0	19.0					1																	16558772		2196	4293	6489	16431359	SO:0001583	missense	79363	exon5			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.548C>T	1.37:g.16558772G>A	ENSP00000364749:p.Thr183Met		16431359	NM_030907	Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361125	0.61403	.	.	ENSG00000132881	ENST00000375599	T	0.73897	-0.79	5.47	5.47	0.80525	.	0.109676	0.64402	D	0.000018	T	0.77054	0.4074	L	0.29908	0.895	0.50313	D	0.999863	D	0.76494	0.999	P	0.59288	0.855	T	0.78468	-0.2192	10	0.52906	T	0.07	-20.2046	16.8326	0.85948	0.0:0.0:1.0:0.0	.	183	Q9BU20	RSG1_HUMAN	M	183	ENSP00000364749:T183M	ENSP00000364749:T183M	T	-	2	0	RSG1	16431359	1.000000	0.71417	0.950000	0.38849	0.453000	0.32348	6.676000	0.74498	2.553000	0.86117	0.655000	0.94253	ACG		0.677	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907	
USP21	27005	broad.mit.edu	37	1	161133967	161133967	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:161133967G>T	ENST00000289865.8	+	9	1453	c.1232G>T	c.(1231-1233)gGg>gTg	p.G411V	USP21_ENST00000368001.1_Missense_Mutation_p.G411V|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000544598.1_5'Flank|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000367999.4_5'Flank|PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000368002.3_Missense_Mutation_p.G411V|PPOX_ENST00000352210.5_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	411	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G411V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGATTTGCTGGGGGCAAGGTG	0.473																																					p.G411V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232T	1						.						70.0	71.0	71.0					1																	161133967		2203	4300	6503	159400591	SO:0001583	missense	27005	exon9			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1232G>T	1.37:g.161133967G>T	ENSP00000289865:p.Gly411Val		159400591	NM_012475	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112203	0.20795	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.02682	4.2;4.2;4.2	5.01	5.01	0.66863	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.329810	0.30752	N	0.008950	T	0.01800	0.0057	L	0.43757	1.38	0.58432	D	0.999998	B	0.34349	0.45	B	0.32724	0.151	T	0.56456	-0.7976	10	0.46703	T	0.11	.	15.3425	0.74309	0.0:0.0:1.0:0.0	.	411	Q9UK80	UBP21_HUMAN	V	411	ENSP00000356981:G411V;ENSP00000289865:G411V;ENSP00000356980:G411V	ENSP00000289865:G411V	G	+	2	0	USP21	159400591	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.462000	0.73526	2.585000	0.87301	0.561000	0.74099	GGG		0.473	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
MPC2	25874	broad.mit.edu	37	1	167889812	167889812	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:167889812C>T	ENST00000367846.4	-	3	406	c.208G>A	c.(208-210)Gct>Act	p.A70T	MPC2_ENST00000271373.4_Missense_Mutation_p.A70T	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	70					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)	p.A70T(1)									GCAGATTGAGCTGTGCTAAGT	0.343																																					p.A70T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G208A	1						.						76.0	72.0	74.0					1																	167889812		2203	4300	6503	166156436	SO:0001583	missense	25874	exon4				CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"""brain protein 44"""	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.208G>A	1.37:g.167889812C>T	ENSP00000356820:p.Ala70Thr		166156436	NM_001143674	A8K261|Q3SXR6|Q6FIF3	Missense_Mutation	SNP	ENST00000367846.4	37	CCDS1266.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060319	0.55432	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	T;T;T	0.72835	-0.69;-0.69;-0.69	6.16	5.25	0.73442	.	0.100511	0.64402	D	0.000001	T	0.29223	0.0727	N	0.12637	0.245	0.33353	D	0.571309	B	0.22983	0.078	B	0.21360	0.034	T	0.05767	-1.0865	9	0.07990	T	0.79	-3.4037	10.4314	0.44409	0.1333:0.7953:0.0:0.0714	.	70	O95563	BR44_HUMAN	T	70	ENSP00000356820:A70T;ENSP00000271373:A70T;ENSP00000392874:A70T	ENSP00000271373:A70T	A	-	1	0	BRP44	166156436	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	3.225000	0.51246	2.937000	0.99478	0.650000	0.86243	GCT		0.343	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415	
ATP13A2	23400	broad.mit.edu	37	1	17318309	17318309	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:17318309A>G	ENST00000326735.8	-	20	2204	c.2171T>C	c.(2170-2172)aTg>aCg	p.M724T	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.M719T|ATP13A2_ENST00000341676.5_Missense_Mutation_p.M719T			Q9NQ11	AT132_HUMAN	ATPase type 13A2	724					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.M724T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TAGGTTCCTCATGACCAGCAG	0.627																																					p.M724T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2171C	1						.						76.0	73.0	74.0					1																	17318309		2203	4300	6503	17190896	SO:0001583	missense	23400	exon20			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2171T>C	1.37:g.17318309A>G	ENSP00000327214:p.Met724Thr		17190896	NM_022089	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854876	0.51376	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.79	4.79	0.61399	ATPase, cation-transporting, domain N (1);HAD-like domain (2);	0.072995	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89214	3.015	0.58432	D	0.999997	P;P;D	0.53745	0.946;0.954;0.962	P;P;D	0.63793	0.861;0.8;0.918	D	0.87617	0.2507	10	0.72032	D	0.01	-38.1056	13.275	0.60182	1.0:0.0:0.0:0.0	.	719;719;724	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	T	724;719;719;194	ENSP00000327214:M724T;ENSP00000341115:M719T;ENSP00000413307:M719T;ENSP00000421126:M194T	ENSP00000327214:M724T	M	-	2	0	ATP13A2	17190896	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.689000	0.91265	2.010000	0.58986	0.402000	0.26972	ATG		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
SLC19A2	10560	broad.mit.edu	37	1	169439331	169439331	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:169439331A>G	ENST00000236137.5	-	3	1137	c.901T>C	c.(901-903)Tgg>Cgg	p.W301R	SLC19A2_ENST00000367804.4_Missense_Mutation_p.W100R	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	301					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)	p.W301R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AGGGCCCACCACACAGACCAG	0.488																																					p.W301R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T901C	1						.						106.0	104.0	105.0					1																	169439331		2203	4300	6503	167705955	SO:0001583	missense	10560	exon3			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.901T>C	1.37:g.169439331A>G	ENSP00000236137:p.Trp301Arg		167705955	NM_006996	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737724	0.89573	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.96940	-4.18;-4.18;-4.18	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.110947	0.64402	D	0.000003	D	0.98479	0.9493	M	0.92923	3.36	0.49389	D	0.999789	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99723	1.1010	9	0.87932	D	0	-6.0308	16.26	0.82535	1.0:0.0:0.0:0.0	.	100;301	O60779-2;O60779	.;S19A2_HUMAN	R	301;100;263	ENSP00000236137:W301R;ENSP00000356778:W100R;ENSP00000356776:W263R	ENSP00000236137:W301R	W	-	1	0	SLC19A2	167705955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.166000	0.77553	2.240000	0.73641	0.477000	0.44152	TGG		0.488	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996	
DARS2	55157	broad.mit.edu	37	1	173823017	173823017	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:173823017C>T	ENST00000361951.4	+	15	2375	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	DARS2_ENST00000471476.1_Intron|DARS2_ENST00000239457.5_Intron	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	550					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.R550C(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	AGAGCTGCAGCGTTATATCCT	0.388																																					p.R550C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1648T	1						.						111.0	108.0	109.0					1																	173823017		2203	4300	6503	172089640	SO:0001583	missense	55157	exon15			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1648C>T	1.37:g.173823017C>T	ENSP00000355086:p.Arg550Cys		172089640	NM_018122		Missense_Mutation	SNP	ENST00000361951.4	37	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	C	9.712	1.157275	0.21454	.	.	ENSG00000117593	ENST00000361951	T	0.80566	-1.39	4.66	2.71	0.32032	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.529047	0.20040	N	0.100535	T	0.70046	0.3179	M	0.88310	2.945	0.80722	D	1	B	0.25486	0.127	B	0.19666	0.026	T	0.69312	-0.5178	10	0.87932	D	0	0.1467	5.5353	0.17007	0.1659:0.6564:0.0:0.1777	.	550	Q6PI48	SYDM_HUMAN	C	550	ENSP00000355086:R550C	ENSP00000355086:R550C	R	+	1	0	DARS2	172089640	0.901000	0.30685	0.371000	0.25978	0.246000	0.25737	1.843000	0.39259	0.345000	0.23873	0.591000	0.81541	CGT		0.388	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122	
RABGAP1L	9910	broad.mit.edu	37	1	174245020	174245020	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:174245020T>C	ENST00000251507.4	+	9	1277	c.1103T>C	c.(1102-1104)aTg>aCg	p.M368T	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.M331T|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.M15T	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.M368T(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATCACTGGCATGTGGAACCCC	0.358																																					p.M368T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1103C	1						.						104.0	104.0	104.0					1																	174245020		2203	4300	6503	172511643	SO:0001583	missense	9910	exon9			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1103T>C	1.37:g.174245020T>C	ENSP00000251507:p.Met368Thr		172511643	NM_014857	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	T	5.151	0.213390	0.09757	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.39997	1.05;3.66;1.07	5.37	4.25	0.50352	.	0.261282	0.45606	N	0.000346	T	0.14917	0.0360	N	0.01048	-1.04	0.80722	D	1	B;B;B;B;B	0.11235	0.004;0.001;0.0;0.0;0.002	B;B;B;B;B	0.16289	0.015;0.002;0.006;0.006;0.004	T	0.06267	-1.0836	10	0.14252	T	0.57	.	11.016	0.47689	0.0:0.0732:0.0:0.9268	.	380;15;368;368;331	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	T	331;15;368;380;380	ENSP00000350027:M331T;ENSP00000251507:M368T;ENSP00000403136:M380T	ENSP00000251507:M368T	M	+	2	0	RABGAP1L	172511643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.395000	0.52558	0.892000	0.36259	0.450000	0.29827	ATG		0.358	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	
GPR52	9293	broad.mit.edu	37	1	174417320	174417320	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:174417320G>A	ENST00000367685.2	+	1	109	c.71G>A	c.(70-72)cGt>cAt	p.R24H	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	24					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R24H(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTGTCCGAGCGTCACTCCTGC	0.483																																					p.R24H	Ovarian(92;924 1390 1930 16467 40583)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G71A	1						.						216.0	177.0	190.0					1																	174417320		2203	4300	6503	172683943	SO:0001583	missense	9293	exon1			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.71G>A	1.37:g.174417320G>A	ENSP00000356658:p.Arg24His		172683943	NM_005684	O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033346	0.02029	.	.	ENSG00000203737	ENST00000367685	T	0.60920	0.15	5.68	-2.31	0.06765	.	0.615902	0.14655	N	0.306327	T	0.31513	0.0799	N	0.08118	0	0.22199	N	0.999294	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	10	0.22109	T	0.4	-1.3255	11.7011	0.51571	0.7241:0.0:0.2759:0.0	.	24	Q9Y2T5	GPR52_HUMAN	H	24	ENSP00000356658:R24H	ENSP00000356658:R24H	R	+	2	0	GPR52	172683943	0.958000	0.32768	0.870000	0.34147	0.918000	0.54935	0.614000	0.24314	-0.466000	0.06943	-0.940000	0.02684	CGT		0.483	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684	
GPR52	9293	broad.mit.edu	37	1	174418267	174418267	+	Missense_Mutation	SNP	A	A	G	rs373951267		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:174418267A>G	ENST00000367685.2	+	1	1056	c.1018A>G	c.(1018-1020)Atg>Gtg	p.M340V	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	340					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.M340V(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CACATCCTGTATGTGTGTGAA	0.418																																					p.M340V	Ovarian(92;924 1390 1930 16467 40583)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1018G	1						.	A	VAL/MET,	0,4406		0,0,2203	89.0	89.0	89.0		1018,	-3.6	0.8	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	GPR52,RABGAP1L	NM_005684.4,NM_014857.4	21,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,	340/362,	174418267	1,13005	2203	4300	6503	172684890	SO:0001583	missense	9293	exon1			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.1018A>G	1.37:g.174418267A>G	ENSP00000356658:p.Met340Val		172684890	NM_005684	O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	A	0.514	-0.865315	0.02590	0.0	1.16E-4	ENSG00000203737	ENST00000367685	T	0.59502	0.26	6.17	-3.56	0.04626	.	0.959432	0.08625	N	0.917914	T	0.30823	0.0777	N	0.08118	0	0.19300	N	0.999979	B	0.02656	0.0	B	0.01281	0.0	T	0.15809	-1.0424	10	0.24483	T	0.36	-0.4295	7.5907	0.28019	0.4564:0.1986:0.345:0.0	.	340	Q9Y2T5	GPR52_HUMAN	V	340	ENSP00000356658:M340V	ENSP00000356658:M340V	M	+	1	0	GPR52	172684890	0.997000	0.39634	0.773000	0.31616	0.659000	0.38960	0.692000	0.25482	-0.945000	0.03681	-0.250000	0.11733	ATG		0.418	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684	
FAM20B	9917	broad.mit.edu	37	1	179013109	179013109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:179013109C>T	ENST00000263733.4	+	2	463	c.127C>T	c.(127-129)Cga>Tga	p.R43*		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	43						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.R43*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGCCTTTCACCGAATGATGAC	0.527																																					p.R43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C127T	1						.						77.0	73.0	74.0					1																	179013109		2203	4300	6503	177279732	SO:0001587	stop_gained	9917	exon2			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.127C>T	1.37:g.179013109C>T	ENSP00000263733:p.Arg43*		177279732	NM_014864	Q5W0C3|Q5W0C4	Nonsense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936429	0.97122	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	.	.	.	6.03	4.12	0.48240	.	0.171861	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-5.8157	15.3237	0.74144	0.2677:0.7322:0.0:0.0	.	.	.	.	X	43	.	ENSP00000263733:R43X	R	+	1	2	FAM20B	177279732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.118000	0.57884	0.819000	0.34492	0.557000	0.71058	CGA		0.527	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864	
TOR3A	64222	broad.mit.edu	37	1	179054946	179054946	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:179054946G>A	ENST00000367627.3	+	3	1309	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.R186Q	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	186					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R186Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						AACCTGTATCGGGACGGGCTG	0.582																																					p.R186Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	1						.						102.0	79.0	87.0					1																	179054946		2203	4300	6503	177321569	SO:0001583	missense	64222	exon3			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.557G>A	1.37:g.179054946G>A	ENSP00000356599:p.Arg186Gln		177321569	NM_022371	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085681	0.55861	.	.	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445;ENST00000447595	T;T;T;T	0.50548	1.49;0.74;1.49;1.49	5.54	3.65	0.41850	.	0.131438	0.52532	N	0.000065	T	0.32041	0.0816	L	0.48935	1.535	0.58432	D	0.999992	P	0.42203	0.773	B	0.32864	0.154	T	0.07908	-1.0748	10	0.40728	T	0.16	-32.8328	5.6585	0.17656	0.0743:0.1392:0.6423:0.1443	.	186	Q9H497	TOR3A_HUMAN	Q	186;139;186;78	ENSP00000356599:R186Q;ENSP00000356597:R139Q;ENSP00000335351:R186Q;ENSP00000410195:R78Q	ENSP00000335351:R186Q	R	+	2	0	TOR3A	177321569	1.000000	0.71417	0.954000	0.39281	0.850000	0.48378	3.213000	0.51153	0.687000	0.31509	0.655000	0.94253	CGG		0.582	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
ABL2	27	broad.mit.edu	37	1	179077546	179077546	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:179077546G>A	ENST00000502732.1	-	12	3059	c.2856C>T	c.(2854-2856)gaC>gaT	p.D952D	ABL2_ENST00000511413.1_Silent_p.D849D|ABL2_ENST00000512653.1_Silent_p.D937D|ABL2_ENST00000504405.1_Silent_p.D813D|ABL2_ENST00000367623.4_Silent_p.D931D|ABL2_ENST00000344730.3_Silent_p.D834D|ABL2_ENST00000408940.3_Silent_p.D916D|ABL2_ENST00000507173.1_Silent_p.D828D	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	952	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.D916D(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCCCTGAGAGTCTGTGCCAA	0.547			T	ETV6	AML																																p.D813D			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2439T	1						.						101.0	96.0	98.0					1																	179077546		2203	4300	6503	177344169	SO:0001819	synonymous_variant	27	exon12			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2856C>T	1.37:g.179077546G>A			177344169	NM_001168239	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	CCDS30947.1																																																																																				0.547	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
CACNA1E	777	broad.mit.edu	37	1	181759588	181759588	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:181759588C>T	ENST00000367573.2	+	44	5794	c.5794C>T	c.(5794-5796)Cgg>Tgg	p.R1932W	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1913W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1932W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1883W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1864W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1539W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1913W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1932					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R1932W(1)|p.R1932R(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGGAGTGGCCGGAGTGGATA	0.542																																					p.R1932W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|pancreas(1)	c.C5794T	1						.						73.0	82.0	79.0					1																	181759588		1960	4143	6103	180026211	SO:0001583	missense	777	exon44			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5794C>T	1.37:g.181759588C>T	ENSP00000356545:p.Arg1932Trp		180026211	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686066	0.68157	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97114	-4.17;-4.18;-3.95;-4.18;-4.25;-3.95;-3.95	5.54	4.63	0.57726	.	0.572727	0.18954	N	0.126599	D	0.95790	0.8630	N	0.08118	0	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	D	0.96141	0.9100	10	0.59425	D	0.04	.	13.2845	0.60235	0.2882:0.7118:0.0:0.0	.	1913;1932	Q15878-2;Q15878-3	.;.	W	1932;1913;1883;1864;1539;1913;1932	ENSP00000356542:R1932W;ENSP00000434814:R1913W;ENSP00000350183:R1883W;ENSP00000351101:R1864W;ENSP00000356539:R1539W;ENSP00000353222:R1913W;ENSP00000356545:R1932W	ENSP00000350183:R1883W	R	+	1	2	CACNA1E	180026211	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.446000	0.44908	1.329000	0.45376	-0.152000	0.13540	CGG		0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
NMNAT2	23057	broad.mit.edu	37	1	183253145	183253145	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:183253145G>A	ENST00000287713.6	-	7	893	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	NMNAT2_ENST00000294868.4_Missense_Mutation_p.R182W|NMNAT2_ENST00000473046.1_5'UTR	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	187					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)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.R187W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TCTTCATACCGCATCACCGTG	0.537																																					p.R187W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	1						.						164.0	134.0	144.0					1																	183253145		2203	4300	6503	181519768	SO:0001583	missense	23057	exon7			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.559C>T	1.37:g.183253145G>A	ENSP00000287713:p.Arg187Trp		181519768	NM_015039	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507832	0.85282	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.96685	-4.09;-4.09	5.71	5.71	0.89125	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.075073	0.49916	D	0.000130	D	0.97052	0.9037	L	0.47190	1.495	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;0.996	D	0.97146	0.9828	10	0.66056	D	0.02	-22.8637	14.3127	0.66426	0.0:0.0:0.8143:0.1857	.	187;187;182	A8K5S5;Q9BZQ4;Q9BZQ4-2	.;NMNA2_HUMAN;.	W	187;182	ENSP00000287713:R187W;ENSP00000294868:R182W	ENSP00000287713:R187W	R	-	1	2	NMNAT2	181519768	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.601000	0.46249	2.687000	0.91594	0.655000	0.94253	CGG		0.537	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1		
PRG4	10216	broad.mit.edu	37	1	186266059	186266059	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:186266059G>A	ENST00000445192.2	+	2	97	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	PRG4_ENST00000367485.4_Missense_Mutation_p.V18M|PRG4_ENST00000367486.3_Missense_Mutation_p.V18M|PRG4_ENST00000367484.3_Missense_Mutation_p.V18M|PRG4_ENST00000367483.4_Missense_Mutation_p.V18M	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	18					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.V18M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GTCTGTTTTCGTGATTCAGCA	0.358																																					p.V18M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	1						.						209.0	158.0	176.0					1																	186266059		2203	4300	6503	184532682	SO:0001583	missense	10216	exon2			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.52G>A	1.37:g.186266059G>A	ENSP00000399679:p.Val18Met		184532682	NM_001127709	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821772	0.16678	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.45668	3.45;3.58;0.89;3.58;3.48;3.57	5.8	-3.8	0.04307	.	0.249833	0.18710	U	0.133304	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44044	0.825;0.825;0.732;0.825	B;B;B;B	0.32805	0.153;0.153;0.073;0.153	T	0.17930	-1.0353	10	0.54805	T	0.06	1.154	9.7426	0.40427	0.0:0.4833:0.1142:0.4025	.	18;18;18;18	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	M	18	ENSP00000356456:V18M;ENSP00000356454:V18M;ENSP00000431330:V18M;ENSP00000356453:V18M;ENSP00000356455:V18M;ENSP00000399679:V18M	ENSP00000356452:V18M	V	+	1	0	PRG4	184532682	0.125000	0.22332	0.258000	0.24420	0.513000	0.34164	0.084000	0.14891	-0.715000	0.04968	-0.375000	0.07067	GTG		0.358	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
KLHDC7A	127707	broad.mit.edu	37	1	18808309	18808309	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:18808309G>A	ENST00000400664.1	+	1	886	c.834G>A	c.(832-834)gcG>gcA	p.A278A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	278						integral component of membrane (GO:0016021)		p.A278A(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGAAGGCGGAGGGGGTTG	0.592																																					p.A278A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G834A	1						.						82.0	84.0	84.0					1																	18808309		2203	4300	6503	18680896	SO:0001819	synonymous_variant	127707	exon1			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.834G>A	1.37:g.18808309G>A			18680896	NM_152375	Q8N8W6	Silent	SNP	ENST00000400664.1	37	CCDS185.2																																																																																				0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
TPR	7175	broad.mit.edu	37	1	186332097	186332097	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:186332097G>T	ENST00000367478.4	-	6	864	c.568C>A	c.(568-570)Cta>Ata	p.L190I	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	190					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.L191I(1)|p.L190I(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)		TGACTATGTAGCAATTCCTTT	0.333			T	NTRK1	papillary thyroid																																p.L190I			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C568A	1						.						83.0	71.0	75.0					1																	186332097		1809	4078	5887	184598720	SO:0001583	missense	7175	exon6			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.568C>A	1.37:g.186332097G>T	ENSP00000356448:p.Leu190Ile		184598720	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080301	0.76528	.	.	ENSG00000047410	ENST00000367478	T	0.32753	1.44	5.53	2.52	0.30459	.	0.000000	0.64402	D	0.000001	T	0.50548	0.1622	M	0.80422	2.495	0.44754	D	0.997759	D;D	0.76494	0.998;0.999	D;D	0.65443	0.935;0.918	T	0.44406	-0.9330	10	0.37606	T	0.19	.	9.6621	0.39960	0.2631:0.0:0.7369:0.0	.	190;190	Q15624;P12270	.;TPR_HUMAN	I	190	ENSP00000356448:L190I	ENSP00000356448:L190I	L	-	1	2	TPR	184598720	0.952000	0.32445	0.770000	0.31555	0.938000	0.57974	1.405000	0.34635	0.314000	0.23086	0.655000	0.94253	CTA		0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
UBR4	23352	broad.mit.edu	37	1	19408022	19408022	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:19408022C>T	ENST00000375254.3	-	103	15081	c.15054G>A	c.(15052-15054)ctG>ctA	p.L5018L	UBR4_ENST00000375217.2_Silent_p.L5011L|UBR4_ENST00000375226.2_Silent_p.L4994L|UBR4_ENST00000543981.1_Silent_p.L682L|UBR4_ENST00000375267.2_Silent_p.L5018L|UBR4_ENST00000375224.1_Silent_p.L725L|UBR4_ENST00000375225.3_Silent_p.L93L|AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000429347.2_Silent_p.L541L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5018					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.L5018L(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)		TGGGCTGTTCCAGAAAGCCTT	0.537																																					p.L5018L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G15054A	1						.						159.0	164.0	162.0					1																	19408022		2203	4300	6503	19280609	SO:0001819	synonymous_variant	23352	exon103			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.15054G>A	1.37:g.19408022C>T			19280609	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
BRINP3	339479	broad.mit.edu	37	1	190234168	190234168	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:190234168T>A	ENST00000367462.3	-	4	676	c.445A>T	c.(445-447)Att>Ttt	p.I149F	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Missense_Mutation_p.I47F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	149	MACPF.				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)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.I149F(1)									TCCACAAAAATTGTGAGTGAC	0.408																																					p.I149F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A445T	1						.						82.0	69.0	74.0					1																	190234168		2203	4300	6503	188500791	SO:0001583	missense	339479	exon4			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.445A>T	1.37:g.190234168T>A	ENSP00000356432:p.Ile149Phe		188500791	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487672	0.84854	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	D;T	0.84070	-1.8;1.93	5.6	5.6	0.85130	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.79108	0.986;0.992	D	0.90978	0.4825	10	0.87932	D	0	.	13.7472	0.62883	0.0:0.0:0.0:1.0	.	47;149	B7Z260;Q76B58	.;FAM5C_HUMAN	F	149;47	ENSP00000356432:I149F;ENSP00000438022:I47F	ENSP00000356432:I149F	I	-	1	0	FAM5C	188500791	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.539000	0.82063	2.133000	0.65898	0.477000	0.44152	ATT		0.408	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
CRB1	23418	broad.mit.edu	37	1	197390653	197390653	+	Silent	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:197390653A>T	ENST00000367400.3	+	6	1830	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	CRB1_ENST00000538660.1_Silent_p.G565G|CRB1_ENST00000535699.1_Silent_p.G496G|CRB1_ENST00000367399.2_Silent_p.G453G|CRB1_ENST00000543483.1_Silent_p.G264G|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Silent_p.G46G	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	565	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.G565G(1)		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						CCAGCGATGGAGAGTGGCATT	0.463																																					p.G565G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1695T	1						.						122.0	122.0	122.0					1																	197390653		2203	4300	6503	195657276	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.1695A>T	1.37:g.197390653A>T			195657276	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
NR5A2	2494	broad.mit.edu	37	1	200090011	200090011	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:200090011G>T	ENST00000367362.3	+	7	1552	c.1306G>T	c.(1306-1308)Gca>Tca	p.A436S	NR5A2_ENST00000236914.3_Missense_Mutation_p.A390S|NR5A2_ENST00000544748.1_Missense_Mutation_p.A364S	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	436					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A436S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGAGTTAGTGGCAAAACTTCG	0.423																																					p.A436S	Melanoma(179;1138 2773 15678 26136)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1306T	1						.						202.0	176.0	184.0					1																	200090011		2203	4300	6503	198356634	SO:0001583	missense	2494	exon7			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1306G>T	1.37:g.200090011G>T	ENSP00000356331:p.Ala436Ser		198356634	NM_205860	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593261	0.13875	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96200	-3.94;-3.94;-3.94	5.76	3.85	0.44370	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.384449	0.31233	N	0.008010	D	0.88709	0.6510	N	0.16098	0.37	0.23838	N	0.99671	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.75306	-0.3364	9	.	.	.	.	11.5875	0.50927	0.0673:0.1254:0.8074:0.0	.	390;436	F1D8R9;O00482	.;NR5A2_HUMAN	S	436;390;364	ENSP00000356331:A436S;ENSP00000236914:A390S;ENSP00000439116:A364S	.	A	+	1	0	NR5A2	198356634	1.000000	0.71417	0.553000	0.28255	0.880000	0.50808	4.350000	0.59392	0.849000	0.35215	0.650000	0.86243	GCA		0.423	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		
KIF14	9928	broad.mit.edu	37	1	200523719	200523719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:200523719G>A	ENST00000367350.4	-	29	4882	c.4444C>T	c.(4444-4446)Caa>Taa	p.Q1482*		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1482	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.Q1482*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTTGTACTTGCCTTCTGAAA	0.308																																					p.Q1482X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4444T	1						.						76.0	77.0	77.0					1																	200523719		2202	4298	6500	198790342	SO:0001587	stop_gained	9928	exon29			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4444C>T	1.37:g.200523719G>A	ENSP00000356319:p.Gln1482*		198790342	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Nonsense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	42	9.433656	0.99169	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.42	3.51	0.40186	.	0.455677	0.21830	N	0.068489	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	12.0171	0.53319	0.0:0.0:0.6862:0.3138	.	.	.	.	X	1482	.	ENSP00000356319:Q1482X	Q	-	1	0	KIF14	198790342	0.252000	0.23972	0.001000	0.08648	0.003000	0.03518	1.714000	0.37961	0.798000	0.33994	0.650000	0.86243	CAA		0.308	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
SYT2	127833	broad.mit.edu	37	1	202566071	202566071	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:202566071G>A	ENST00000367267.1	-	9	1266	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	SYT2_ENST00000367268.4_Silent_p.T358T	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	358	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.T358T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGTCCAGCACGGTGACCACTA	0.552																																					p.T358T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074T	1						.						92.0	72.0	79.0					1																	202566071		2203	4300	6503	200832694	SO:0001819	synonymous_variant	127833	exon9			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.1074C>T	1.37:g.202566071G>A			200832694	NM_177402	Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	CCDS1427.1																																																																																				0.552	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402	
ATP2B4	493	broad.mit.edu	37	1	203696564	203696564	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:203696564G>T	ENST00000357681.5	+	20	4297	c.3174G>T	c.(3172-3174)aaG>aaT	p.K1058N	ATP2B4_ENST00000367218.3_Missense_Mutation_p.K1058N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K1022N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.K1058N|ATP2B4_ENST00000466407.1_3'UTR|SNORA77_ENST00000408716.1_RNA|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K1046N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1058					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.K1058N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTTCCTGAAGGAGGCTGGGC	0.552																																					p.K1058N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3174T	1						.						125.0	120.0	122.0					1																	203696564		2203	4300	6503	201963187	SO:0001583	missense	493	exon20			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3174G>T	1.37:g.203696564G>T	ENSP00000350310:p.Lys1058Asn		201963187	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.60|19.60	3.857974|3.857974	0.71834|0.71834	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360|ENST00000458092;ENST00000356729	D;D;D;D;D|.	0.93859|.	-3.2;-3.19;-3.19;-3.3;-3.19|.	5.65|5.65	3.76|3.76	0.43208|0.43208	ATPase, P-type,  transmembrane domain (1);|.	0.121584|.	0.37530|.	N|.	0.002059|.	T|T	0.70996|0.70996	0.3288|0.3288	M|M	0.77103|0.77103	2.36|2.36	0.51767|0.51767	D|D	0.999933|0.999933	D;P;D|.	0.69078|.	0.997;0.563;0.993|.	D;B;D|.	0.72338|.	0.91;0.233;0.977|.	T|T	0.69379|0.69379	-0.5161|-0.5161	10|5	0.27785|.	T|.	0.31|.	-27.0363|-27.0363	9.6453|9.6453	0.39863|0.39863	0.2157:0.0:0.7843:0.0|0.2157:0.0:0.7843:0.0	.|.	1058;1058;1058|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	N|M	1058;1058;1046;1022;1058|45;23	ENSP00000350310:K1058N;ENSP00000356187:K1058N;ENSP00000356188:K1046N;ENSP00000375816:K1022N;ENSP00000340930:K1058N|.	ENSP00000340930:K1058N|.	K|R	+|+	3|2	2|0	ATP2B4|ATP2B4	201963187|201963187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.382000|2.382000	0.44345|0.44345	0.728000|0.728000	0.32382|0.32382	0.555000|0.555000	0.69702|0.69702	AAG|AGG		0.552	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
PLEKHA6	22874	broad.mit.edu	37	1	204218352	204218352	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:204218352C>A	ENST00000272203.3	-	11	1950	c.1634G>T	c.(1633-1635)aGg>aTg	p.R545M	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R565M	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	545								p.R545M(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTCCTGCTCCCTCACCACCTT	0.572																																					p.R545M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1634T	1						.						100.0	99.0	99.0					1																	204218352		2203	4300	6503	202484975	SO:0001583	missense	22874	exon11			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1634G>T	1.37:g.204218352C>A	ENSP00000272203:p.Arg545Met		202484975	NM_014935	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253200	0.59212	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	D;D	0.81908	-1.55;-1.55	5.13	4.22	0.49857	.	0.101746	0.64402	D	0.000004	D	0.88592	0.6478	M	0.63843	1.955	0.40195	D	0.977443	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.982	D	0.89225	0.3573	10	0.66056	D	0.02	-28.7616	11.7525	0.51857	0.0:0.9174:0.0:0.0826	.	565;545	Q5VTI5;Q9Y2H5	.;PKHA6_HUMAN	M	545;565	ENSP00000272203:R545M;ENSP00000402046:R565M	ENSP00000272203:R545M	R	-	2	0	PLEKHA6	202484975	1.000000	0.71417	0.996000	0.52242	0.668000	0.39293	4.840000	0.62817	1.172000	0.42781	-0.150000	0.13652	AGG		0.572	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
TMCC2	9911	broad.mit.edu	37	1	205241151	205241151	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:205241151C>T	ENST00000358024.3	+	5	2418	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	TMCC2_ENST00000329800.7_Missense_Mutation_p.R437C|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.R599C|TMCC2_ENST00000330675.7_Missense_Mutation_p.R452C	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	677						integral component of membrane (GO:0016021)		p.R677C(1)|p.R452C(1)		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)			GACACGCCTGCGCATCACCAG	0.612																																					p.R677C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2029T	1						.						246.0	186.0	206.0					1																	205241151		2203	4300	6503	203507774	SO:0001583	missense	9911	exon5			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.2029C>T	1.37:g.205241151C>T	ENSP00000350718:p.Arg677Cys		203507774	NM_014858	A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719859	0.89205	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.18	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.991	T	0.74999	-0.3472	10	0.52906	T	0.07	.	14.9455	0.71026	0.144:0.856:0.0:0.0	.	437;452;677	G5E963;B2RAX5;O75069	.;.;TMCC2_HUMAN	C	677;599;452;437	ENSP00000350718:R677C;ENSP00000437943:R599C;ENSP00000331842:R452C;ENSP00000329436:R437C	ENSP00000329436:R437C	R	+	1	0	TMCC2	203507774	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	5.921000	0.70028	1.391000	0.46566	0.655000	0.94253	CGC		0.612	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858	
MFSD4	148808	broad.mit.edu	37	1	205554083	205554083	+	Silent	SNP	G	G	A	rs111489673		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:205554083G>A	ENST00000367147.4	+	5	1032	c.939G>A	c.(937-939)acG>acA	p.T313T	MFSD4_ENST00000536357.1_Silent_p.T226T|MFSD4_ENST00000539267.1_Silent_p.T313T	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	313					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.T313T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCCACATCACGGGCGCCCTGG	0.602											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16900	0.0		0.0	False		,,,				2504	0.0				p.T313T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G939A	1						.						123.0	118.0	120.0					1																	205554083		2203	4300	6503	203820706	SO:0001819	synonymous_variant	148808	exon5			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.939G>A	1.37:g.205554083G>A		2153	203820706	NM_181644	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Silent	SNP	ENST00000367147.4	37	CCDS1455.1																																																																																				0.602	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644	
SLC45A3	85414	broad.mit.edu	37	1	205631171	205631171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:205631171G>A	ENST00000367145.3	-	4	1337	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	348					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R348*(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGCCGAATCGCTGCACCAGC	0.637			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																p.R348X			Dom	yes		1	1q32	85414	"""solute carrier family 45, member 3"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1042T	1						.						33.0	34.0	33.0					1																	205631171		2203	4300	6503	203897794	SO:0001587	stop_gained	85414	exon4			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1042C>T	1.37:g.205631171G>A	ENSP00000356113:p.Arg348*		203897794	NM_033102	A8K2U9	Nonsense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	G	40	8.163690	0.98686	.	.	ENSG00000158715	ENST00000367145	.	.	.	5.27	3.32	0.38043	.	0.486793	0.22217	N	0.063004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0216	12.6799	0.56916	0.0:0.0:0.5519:0.4481	.	.	.	.	X	348	.	ENSP00000356113:R348X	R	-	1	2	SLC45A3	203897794	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	3.383000	0.52471	0.544000	0.28883	0.655000	0.94253	CGA		0.637	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102	
SLC26A9	115019	broad.mit.edu	37	1	205902157	205902157	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:205902157A>G	ENST00000367135.3	-	3	294	c.181T>C	c.(181-183)Tgg>Cgg	p.W61R	RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Missense_Mutation_p.W61R|SLC26A9_ENST00000367134.2_Missense_Mutation_p.W61R	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	61					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.W61R(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TTGGGGAGCCAGGAGAGCACA	0.552																																					p.W61R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T181C	1						.						83.0	81.0	82.0					1																	205902157		2203	4300	6503	204168780	SO:0001583	missense	115019	exon3			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.181T>C	1.37:g.205902157A>G	ENSP00000356103:p.Trp61Arg		204168780	NM_134325	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022295	0.75275	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93307	-3.2;-3.2;-3.2	5.69	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.97523	0.9189	H	0.96518	3.835	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97473	1.0042	10	0.87932	D	0	.	11.069	0.47993	0.9268:0.0:0.0732:0.0	.	61;61	Q7LBE3;B1AVM8	S26A9_HUMAN;.	R	61	ENSP00000341682:W61R;ENSP00000356103:W61R;ENSP00000356102:W61R	ENSP00000341682:W61R	W	-	1	0	SLC26A9	204168780	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.542000	0.73869	0.998000	0.38996	0.260000	0.18958	TGG		0.552	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934	
PIGR	5284	broad.mit.edu	37	1	207106479	207106479	+	Missense_Mutation	SNP	C	C	T	rs529407537	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:207106479C>T	ENST00000356495.4	-	7	1921	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	580			A -> V (in dbSNP:rs291102).		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.A580T(2)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAGGAGCAGCGTCTGCCTTC	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21107	0.0		0.0	False		,,,				2504	0.0				p.A580T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1738A	1						.						66.0	65.0	66.0					1																	207106479		2203	4300	6503	205173102	SO:0001583	missense	5284	exon7				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1738G>A	1.37:g.207106479C>T	ENSP00000348888:p.Ala580Thr		205173102	NM_002644	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	7.714	0.695788	0.15106	.	.	ENSG00000162896	ENST00000356495	T	0.16457	2.34	2.02	1.02	0.19986	.	1.246790	0.05490	N	0.556394	T	0.09862	0.0242	L	0.27053	0.805	0.09310	N	1	P	0.38440	0.631	B	0.24394	0.053	T	0.29610	-1.0006	10	0.40728	T	0.16	-32.5565	6.2298	0.20728	0.0:0.6814:0.3186:0.0	.	580	P01833	PIGR_HUMAN	T	580	ENSP00000348888:A580T	ENSP00000348888:A580T	A	-	1	0	PIGR	205173102	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	0.011000	0.13264	0.384000	0.24942	0.555000	0.69702	GCT		0.542	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
CR1	1378	broad.mit.edu	37	1	207697297	207697297	+	Missense_Mutation	SNP	C	C	T	rs199777103		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:207697297C>T	ENST00000367049.4	+	5	829	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Missense_Mutation_p.R277C|CR1_ENST00000367051.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.R277C|CR1_ENST00000367052.1_Missense_Mutation_p.R277C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	277	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R277C(1)|p.R282C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGACCCCGCCGTGTGAAGTG	0.517																																					p.R277C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C829T	1						.						15.0	16.0	16.0					1																	207697297		1737	3904	5641	205763920	SO:0001583	missense	1378	exon5			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.829C>T	1.37:g.207697297C>T	ENSP00000356016:p.Arg277Cys		205763920	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330439	0.24167	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.11	-1.35	0.09114	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.60508	0.2274	L	0.52905	1.665	0.09310	N	1	B;D;P;P;P	0.56521	0.447;0.976;0.936;0.745;0.745	B;P;P;B;B	0.51918	0.131;0.676;0.684;0.202;0.202	T	0.53056	-0.8492	9	0.44086	T	0.13	.	6.5108	0.22220	0.3717:0.5281:0.1003:0.0	.	727;277;252;277;277	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	C	277	ENSP00000356019:R277C;ENSP00000356020:R277C;ENSP00000383744:R277C;ENSP00000436139:R277C;ENSP00000356016:R277C	ENSP00000356016:R277C	R	+	1	0	CR1	205763920	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.111000	0.15458	-0.334000	0.08463	-0.473000	0.04963	CGT		0.517	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
EIF4G3	8672	broad.mit.edu	37	1	21180097	21180097	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:21180097C>T	ENST00000264211.8	-	21	3533	c.3339G>A	c.(3337-3339)acG>acA	p.T1113T	EIF4G3_ENST00000537738.1_Silent_p.T603T|EIF4G3_ENST00000536266.1_Silent_p.T717T|EIF4G3_ENST00000602326.1_Silent_p.T1119T|EIF4G3_ENST00000374937.3_Silent_p.T1119T|EIF4G3_ENST00000400422.1_Silent_p.T1113T|EIF4G3_ENST00000374935.3_Silent_p.T833T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1113					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T1119T(1)|p.T1113T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCGTGGATGGCGTGGACCCTG	0.498																																					p.T1113T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3339A	1						.						119.0	110.0	113.0					1																	21180097		2203	4300	6503	21052684	SO:0001819	synonymous_variant	8672	exon22			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3339G>A	1.37:g.21180097C>T			21052684	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.498	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
CD34	947	broad.mit.edu	37	1	208073290	208073290	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:208073290C>A	ENST00000310833.7	-	2	459	c.138G>T	c.(136-138)caG>caT	p.Q46H	CD34_ENST00000485761.1_5'Flank|CD34_ENST00000537704.1_De_novo_Start_InFrame|CD34_ENST00000356522.4_Missense_Mutation_p.Q46H	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	46					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.Q46H(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						AAAATGTTCCCTGGGTAGGTA	0.448																																					p.Q46H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	1						.						149.0	142.0	144.0					1																	208073290		2203	4300	6503	206139913	SO:0001583	missense	947	exon2			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.138G>T	1.37:g.208073290C>A	ENSP00000310036:p.Gln46His		206139913	NM_001773	A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573444	0.28092	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367037	T;T	0.12147	2.71;2.71	3.73	0.508	0.16972	.	1.432160	0.04405	N	0.365079	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	0.999999	P;P	0.46327	0.876;0.688	B;B	0.41202	0.35;0.19	T	0.26189	-1.0110	10	0.59425	D	0.04	8.9427	5.4407	0.16507	0.0:0.2993:0.0:0.7007	.	46;46	P28906-2;P28906	.;CD34_HUMAN	H	46;46;16	ENSP00000310036:Q46H;ENSP00000348916:Q46H	ENSP00000310036:Q46H	Q	-	3	2	CD34	206139913	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.005000	0.13129	0.101000	0.17610	-0.145000	0.13849	CAG		0.448	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773	
PTPN14	5784	broad.mit.edu	37	1	214557181	214557181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:214557181C>A	ENST00000366956.5	-	13	2211	c.2017G>T	c.(2017-2019)Gag>Tag	p.E673*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	673					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E673*(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTCCCTGCTCCCGGAGCGTG	0.637																																					p.E673X	Colon(92;557 1424 24372 34121 40073)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2017T	1						.						39.0	39.0	39.0					1																	214557181		2203	4300	6503	212623804	SO:0001587	stop_gained	5784	exon13			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2017G>T	1.37:g.214557181C>A	ENSP00000355923:p.Glu673*		212623804	NM_005401	Q5VSI0	Nonsense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	37	6.150062	0.97329	.	.	ENSG00000152104	ENST00000366956	.	.	.	4.99	4.99	0.66335	.	0.053230	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.2705	0.90066	0.0:1.0:0.0:0.0	.	.	.	.	X	673	.	ENSP00000355923:E673X	E	-	1	0	PTPN14	212623804	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	4.539000	0.60657	2.330000	0.79161	0.557000	0.71058	GAG		0.637	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
USH2A	7399	broad.mit.edu	37	1	216373317	216373317	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:216373317T>G	ENST00000307340.3	-	17	3849	c.3463A>C	c.(3463-3465)Agt>Cgt	p.S1155R	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1155R|USH2A_ENST00000366943.2_Missense_Mutation_p.S1155R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1155	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1155R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATATAACTTAAAGTCAAG	0.428										HNSCC(13;0.011)																											p.S1155R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3463C	1						.						103.0	102.0	102.0					1																	216373317		2203	4300	6503	214439940	SO:0001583	missense	7399	exon17			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3463A>C	1.37:g.216373317T>G	ENSP00000305941:p.Ser1155Arg		214439940	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942826	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.53640	2.56;0.61;0.61	6.02	3.53	0.40419	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.476907	0.17534	N	0.170798	T	0.47563	0.1452	L	0.54323	1.7	0.21675	N	0.999594	P;P	0.50369	0.7;0.934	B;P	0.50537	0.207;0.643	T	0.27088	-1.0084	10	0.24483	T	0.36	.	8.3591	0.32348	0.1177:0.0:0.2256:0.6568	.	1155;1155	O75445-2;O75445	.;USH2A_HUMAN	R	1155	ENSP00000305941:S1155R;ENSP00000355910:S1155R;ENSP00000355909:S1155R	ENSP00000305941:S1155R	S	-	1	0	USH2A	214439940	0.138000	0.22547	0.944000	0.38274	0.982000	0.71751	1.307000	0.33516	2.311000	0.77944	0.533000	0.62120	AGT		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
EPRS	2058	broad.mit.edu	37	1	220193454	220193454	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:220193454T>C	ENST00000366923.3	-	10	1494	c.1225A>G	c.(1225-1227)Att>Gtt	p.I409V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	409	Glutamate--tRNA ligase.				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.I409V(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)	GCTTCAATAATCCAGTAAAAC	0.388																																					p.I409V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1225G	1						.						151.0	145.0	147.0					1																	220193454		2203	4300	6503	218260077	SO:0001583	missense	2058	exon10			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.1225A>G	1.37:g.220193454T>C	ENSP00000355890:p.Ile409Val		218260077	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469948	0.43839	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.25579	1.79	5.82	5.82	0.92795	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.042517	0.85682	D	0.000000	T	0.17492	0.0420	N	0.12443	0.215	0.58432	D	0.999999	B;B;B	0.16802	0.019;0.002;0.009	B;B;B	0.18871	0.023;0.012;0.02	T	0.04811	-1.0925	10	0.36615	T	0.2	-28.6519	16.182	0.81915	0.0:0.0:0.0:1.0	.	433;409;409	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	V	409;409;433	ENSP00000355890:I409V	ENSP00000355890:I409V	I	-	1	0	EPRS	218260077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.527000	0.35975	2.222000	0.72286	0.528000	0.53228	ATT		0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
USP48	84196	broad.mit.edu	37	1	22055141	22055141	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:22055141G>A	ENST00000308271.9	-	11	2020	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	USP48_ENST00000421625.2_Missense_Mutation_p.R458C|USP48_ENST00000400301.1_Missense_Mutation_p.R458C|USP48_ENST00000529637.1_Missense_Mutation_p.R457C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	458					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R458C(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTTTGCTTACGCATCTCAGCC	0.413																																					p.R458C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1372T	1						.						195.0	173.0	180.0					1																	22055141		2203	4300	6503	21927728	SO:0001583	missense	84196	exon11			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1372C>T	1.37:g.22055141G>A	ENSP00000309262:p.Arg458Cys		21927728	NM_001032730	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308326	0.81247	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.05855	3.38;3.38;3.38;3.53	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P	0.76575	0.988;0.925;0.967;0.982;0.982;0.899	T	0.00030	-1.2286	10	0.87932	D	0	.	19.132	0.93412	0.0:0.0:1.0:0.0	.	457;458;458;458;458;458	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	C	458;458;457;44;80;458	ENSP00000383157:R458C;ENSP00000309262:R458C;ENSP00000431949:R457C;ENSP00000406256:R458C	ENSP00000309262:R458C	R	-	1	0	USP48	21927728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.833000	0.62766	2.768000	0.95171	0.650000	0.86243	CGT		0.413	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
IARS2	55699	broad.mit.edu	37	1	220276110	220276110	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:220276110C>T	ENST00000302637.5	+	7	1045	c.941C>T	c.(940-942)cCt>cTt	p.P314L	IARS2_ENST00000366922.1_Missense_Mutation_p.P242L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	314					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.P314L(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGCTATATGCCTGAATCAAAG	0.308																																					p.P314L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C941T	1						.						99.0	97.0	98.0					1																	220276110		2203	4300	6503	218342733	SO:0001583	missense	55699	exon7			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.941C>T	1.37:g.220276110C>T	ENSP00000303279:p.Pro314Leu		218342733	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886407	0.51908	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	D;D	0.83163	-1.69;-1.69	5.31	3.33	0.38152	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.102292	0.64402	N	0.000002	D	0.87712	0.6246	H	0.95611	3.695	0.80722	D	1	B	0.23442	0.085	B	0.31686	0.134	D	0.85343	0.1097	10	0.87932	D	0	-2.7685	9.4591	0.38774	0.1418:0.7807:0.0:0.0775	.	314	Q9NSE4	SYIM_HUMAN	L	242;314	ENSP00000355889:P242L;ENSP00000303279:P314L	ENSP00000303279:P314L	P	+	2	0	IARS2	218342733	0.998000	0.40836	0.469000	0.27204	0.959000	0.62525	3.705000	0.54823	0.636000	0.30508	0.650000	0.86243	CCT		0.308	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
MIA3	375056	broad.mit.edu	37	1	222838663	222838663	+	Missense_Mutation	SNP	G	G	A	rs199708368		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:222838663G>A	ENST00000344922.5	+	28	5451	c.5426G>A	c.(5425-5427)cGt>cAt	p.R1809H	MIA3_ENST00000344441.6_Missense_Mutation_p.R1809H|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R687H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1809	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R1809H(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTGGTATGCGTCCACCACTA	0.448																																					p.R1809H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5426A	1						.	A	HIS/ARG	0,3690		0,0,1845	141.0	138.0	139.0		5426	2.8	0.3	1		139	1,8205		0,1,4102	yes	missense	MIA3	NM_198551.2	29	0,1,5947	AA,AG,GG		0.0122,0.0,0.0084	benign	1809/1908	222838663	1,11895	1845	4103	5948	220905286	SO:0001583	missense	375056	exon28				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5426G>A	1.37:g.222838663G>A	ENSP00000340900:p.Arg1809His		220905286	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	g	6.717	0.501017	0.12822	0.0	1.22E-4	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.29397	1.57;1.57;1.57	5.75	2.8	0.32819	.	.	.	.	.	T	0.19725	0.0474	L	0.31294	0.92	0.09310	N	1	B;B	0.19935	0.008;0.04	B;B	0.11329	0.002;0.006	T	0.19224	-1.0312	9	0.30078	T	0.28	.	6.0339	0.19694	0.1901:0.2661:0.5439:0.0	.	687;1809	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	H	1809;1809;1750;687;687	ENSP00000340900:R1809H;ENSP00000340587:R1809H;ENSP00000345866:R687H	ENSP00000284471:R687H	R	+	2	0	MIA3	220905286	0.015000	0.18098	0.269000	0.24586	0.944000	0.59088	0.300000	0.19156	0.796000	0.33947	-0.320000	0.08662	CGT		0.448	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
URB2	9816	broad.mit.edu	37	1	229772447	229772447	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:229772447C>T	ENST00000258243.2	+	4	2223	c.2087C>T	c.(2086-2088)gCc>gTc	p.A696V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	696						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A696V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCTGAAGGAGCCATCCAAAGT	0.458																																					p.A696V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2087T	1						.						139.0	148.0	145.0					1																	229772447		2203	4300	6503	227839070	SO:0001583	missense	9816	exon4			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2087C>T	1.37:g.229772447C>T	ENSP00000258243:p.Ala696Val		227839070	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965641	0.34659	.	.	ENSG00000135763	ENST00000258243	T	0.32272	1.46	5.12	2.06	0.26882	.	0.248699	0.38272	N	0.001756	T	0.23289	0.0563	M	0.63428	1.95	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.09596	-1.0667	9	.	.	.	-8.9086	2.7361	0.05240	0.2497:0.4219:0.2372:0.0912	.	696	Q14146	URB2_HUMAN	V	696	ENSP00000258243:A696V	.	A	+	2	0	URB2	227839070	0.967000	0.33354	0.509000	0.27700	0.206000	0.24218	0.876000	0.28092	1.306000	0.44926	0.585000	0.79938	GCC		0.458	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
NTPCR	84284	broad.mit.edu	37	1	233092178	233092178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:233092178G>A	ENST00000366628.5	+	3	370	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	NTPCR_ENST00000366627.4_Missense_Mutation_p.V95I	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	95						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)	p.V95I(1)		large_intestine(2)|lung(1)|ovary(1)	4						GGCACTACCCGTCTTGAGGAA	0.468																																					p.V95I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G283A	1						.						184.0	156.0	166.0					1																	233092178		2203	4300	6503	231158801	SO:0001583	missense	84284	exon3			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.283G>A	1.37:g.233092178G>A	ENSP00000355587:p.Val95Ile		231158801	NM_032324		Missense_Mutation	SNP	ENST00000366628.5	37	CCDS1597.1	.	.	.	.	.	.	.	.	.	.	G	5.434	0.265255	0.10294	.	.	ENSG00000135778	ENST00000366628;ENST00000366627	T;T	0.37752	1.18;1.18	5.38	5.38	0.77491	ATPase, AAA+ type, core (1);	0.064020	0.64402	D	0.000007	T	0.28499	0.0705	L	0.45422	1.42	0.43857	D	0.996452	B;B	0.34226	0.121;0.443	B;B	0.33196	0.049;0.159	T	0.03514	-1.1029	10	0.23891	T	0.37	-22.2332	10.1973	0.43062	0.0724:0.0:0.7902:0.1374	.	95;95	Q9BSD7;Q5TDF0	NTPCR_HUMAN;.	I	95	ENSP00000355587:V95I;ENSP00000355586:V95I	ENSP00000355586:V95I	V	+	1	0	NTPCR	231158801	0.998000	0.40836	0.772000	0.31596	0.058000	0.15608	2.948000	0.49066	2.786000	0.95864	0.563000	0.77884	GTC		0.468	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324	
NID1	4811	broad.mit.edu	37	1	236189210	236189210	+	Missense_Mutation	SNP	A	A	G	rs576525237		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:236189210A>G	ENST00000264187.6	-	8	2052	c.1970T>C	c.(1969-1971)aTt>aCt	p.I657T	NID1_ENST00000366595.3_Missense_Mutation_p.I657T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	657	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.I657T(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CACAGGCCCAATGGAGTTGCT	0.542													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0				p.I657T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1970C	1						.						214.0	202.0	206.0					1																	236189210		2203	4300	6503	234255833	SO:0001583	missense	4811	exon8			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1970T>C	1.37:g.236189210A>G	ENSP00000264187:p.Ile657Thr		234255833	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379534	0.61845	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.27104	1.69;1.69	5.02	5.02	0.67125	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.216102	0.49916	D	0.000138	T	0.42944	0.1225	M	0.71036	2.16	0.46203	D	0.99892	D;P	0.58268	0.982;0.841	P;P	0.54460	0.753;0.452	T	0.40421	-0.9564	10	0.52906	T	0.07	.	14.8981	0.70659	1.0:0.0:0.0:0.0	.	657;657	P14543-2;P14543	.;NID1_HUMAN	T	657	ENSP00000264187:I657T;ENSP00000355554:I657T	ENSP00000264187:I657T	I	-	2	0	NID1	234255833	1.000000	0.71417	0.562000	0.28370	0.859000	0.49053	8.377000	0.90141	2.101000	0.63845	0.533000	0.62120	ATT		0.542	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
RYR2	6262	broad.mit.edu	37	1	237617722	237617722	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:237617722G>A	ENST00000366574.2	+	15	1641	c.1324G>A	c.(1324-1326)Gct>Act	p.A442T	RYR2_ENST00000542537.1_Missense_Mutation_p.A426T|RYR2_ENST00000360064.6_Missense_Mutation_p.A440T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	442					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.A440T(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)			GAAAGCGAAGGCTTCCACAGT	0.408																																					p.A442T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1324A	1						.						88.0	84.0	85.0					1																	237617722		1892	4110	6002	235684345	SO:0001583	missense	6262	exon15			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.1324G>A	1.37:g.237617722G>A	ENSP00000355533:p.Ala442Thr		235684345	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	1.805	-0.476031	0.04414	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88975	-2.45;-2.45;-2.45	5.87	-1.71	0.08133	.	0.762878	0.11705	U	0.537577	T	0.69753	0.3146	N	0.11064	0.09	0.44745	D	0.997749	B	0.15141	0.012	B	0.15870	0.014	T	0.55490	-0.8133	10	0.13108	T	0.6	.	1.2934	0.02065	0.1579:0.2844:0.2197:0.338	.	442	Q92736	RYR2_HUMAN	T	442;440;426	ENSP00000355533:A442T;ENSP00000353174:A440T;ENSP00000443798:A426T	ENSP00000353174:A440T	A	+	1	0	RYR2	235684345	0.012000	0.17670	0.007000	0.13788	0.117000	0.20001	0.188000	0.17018	-0.131000	0.11578	-0.321000	0.08615	GCT		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RGS7	6000	broad.mit.edu	37	1	241099998	241099998	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:241099998G>A	ENST00000407727.1	-	4	234	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.L79F|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Missense_Mutation_p.L79F|RGS7_ENST00000366564.1_Missense_Mutation_p.L79F|RGS7_ENST00000331110.7_Missense_Mutation_p.L53F|RGS7_ENST00000366565.1_Missense_Mutation_p.L79F			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	79	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L79I(2)|p.L79F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCCAAATGGAGCGCCTCCACT	0.388																																					p.L79F												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C235T	1						.						71.0	78.0	75.0					1																	241099998		2203	4300	6503	239166621	SO:0001583	missense	6000	exon5			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.235C>T	1.37:g.241099998G>A	ENSP00000384428:p.Leu79Phe		239166621	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.192709	0.78902	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000366562;ENST00000407727	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.52	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	L	0.52905	1.665	0.80722	D	1	D;D;P;P	0.55172	0.958;0.97;0.948;0.947	P;D;P;P	0.63957	0.836;0.92;0.66;0.817	T	0.16158	-1.0412	10	0.72032	D	0.01	-21.3884	7.9931	0.30252	0.08:0.0:0.7601:0.1599	.	53;79;79;79	B7Z257;P49802-2;P49802-5;P49802-3	.;.;.;.	F	53;79;79;79;79;79	ENSP00000331485:L53F;ENSP00000355523:L79F;ENSP00000355522:L79F;ENSP00000355521:L79F;ENSP00000355520:L79F;ENSP00000384428:L79F	ENSP00000331485:L53F	L	-	1	0	RGS7	239166621	1.000000	0.71417	0.690000	0.30148	0.974000	0.67602	6.369000	0.73109	2.595000	0.87683	0.563000	0.77884	CTC		0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	
SMYD3	64754	broad.mit.edu	37	1	245912889	245912889	+	Silent	SNP	G	G	A	rs139195102	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:245912889G>A	ENST00000388985.4	-	12	1262	c.1263C>T	c.(1261-1263)tgC>tgT	p.C421C	SMYD3_ENST00000541742.1_Silent_p.C362C|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Silent_p.C362C			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	421					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.C362C(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TGTTGGCGTCGCATTCTTCTA	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		22057	0.0		0.001	False		,,,				2504	0.001				p.C362C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1086T	1						.	G	,	1,4405	2.1+/-5.4	0,1,2202	153.0	122.0	132.0		1263,1086	-8.7	0.7	1	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SMYD3	NM_001167740.1,NM_022743.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	421/429,362/370	245912889	2,13004	2203	4300	6503	243979512	SO:0001819	synonymous_variant	64754	exon12			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.1263C>T	1.37:g.245912889G>A			243979512	NM_022743	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	ENST00000388985.4	37	CCDS53486.1																																																																																				0.433	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743	
AHCTF1	25909	broad.mit.edu	37	1	247079629	247079629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:247079629G>A	ENST00000391829.2	-	3	313	c.190C>T	c.(190-192)Cga>Tga	p.R64*	AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.R99*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R73*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	64	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R64*(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCAGACAATCGCTCTCCTGTT	0.383																																					p.R73X	Colon(145;197 1800 4745 15099 26333)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C217T	1						.						29.0	30.0	29.0					1																	247079629		2198	4297	6495	245146252	SO:0001587	stop_gained	25909	exon3				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.190C>T	1.37:g.247079629G>A	ENSP00000375705:p.Arg64*		245146252	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	G	19.69	3.875519	0.72180	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829;ENST00000478568	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4515	13.4915	0.61397	0.0:0.0:0.7255:0.2744	.	.	.	.	X	99;73;64;64	.	ENSP00000355465:R73X	R	-	1	2	AHCTF1	245146252	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	4.731000	0.62022	2.569000	0.86673	0.561000	0.74099	CGA		0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
ZNF695	57116	broad.mit.edu	37	1	247151437	247151437	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:247151437T>C	ENST00000339986.7	-	4	527	c.380A>G	c.(379-381)gAc>gGc	p.D127G	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Missense_Mutation_p.D127G	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	127					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D127G(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AATTTCCCAGTCATTCCTTAA	0.403																																					p.D127G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A380G	1						.						223.0	215.0	217.0					1																	247151437		1903	4117	6020	245218060	SO:0001583	missense	57116	exon4				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.380A>G	1.37:g.247151437T>C	ENSP00000341236:p.Asp127Gly		245218060	NM_020394	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.265496	0.01433	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.06768	5.56;3.26	0.459	0.459	0.16678	.	.	.	.	.	T	0.08891	0.0220	L	0.29908	0.895	0.18873	N	0.999987	P;B;D	0.67145	0.743;0.038;0.996	B;B;P	0.59056	0.097;0.008;0.851	T	0.08249	-1.0731	9	0.02654	T	1	.	5.1621	0.15066	0.0:1.0E-4:0.0:0.9999	.	127;115;127	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	G	127	ENSP00000429736:D127G;ENSP00000341236:D127G	ENSP00000428213:D115G	D	-	2	0	ZNF695	245218060	0.007000	0.16637	0.059000	0.19551	0.578000	0.36192	0.488000	0.22371	0.403000	0.25479	0.164000	0.16699	GAC		0.403	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394	
OR2C3	81472	broad.mit.edu	37	1	247695155	247695155	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:247695155C>T	ENST00000366487.3	-	2	1020	c.659G>A	c.(658-660)gGc>gAc	p.G220D	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G219D(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGCAATGTGGCCGTAAGAGAC	0.542																																					p.G220D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	1						.						91.0	89.0	89.0					1																	247695155		2203	4300	6503	245761778	SO:0001583	missense	81472	exon2			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.659G>A	1.37:g.247695155C>T	ENSP00000355443:p.Gly220Asp		245761778	NM_198074	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	8.332	0.826773	0.16749	.	.	ENSG00000196242	ENST00000366487	T	0.00130	8.69	3.89	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.201948	0.23922	U	0.043232	T	0.00271	0.0008	M	0.89904	3.07	0.09310	N	1	B	0.22746	0.074	B	0.30855	0.121	T	0.30446	-0.9978	10	0.87932	D	0	.	7.0517	0.25077	0.1985:0.6094:0.1922:0.0	.	220	Q8N628	OR2C3_HUMAN	D	220	ENSP00000355443:G220D	ENSP00000355443:G220D	G	-	2	0	OR2C3	245761778	0.000000	0.05858	0.012000	0.15200	0.013000	0.08279	-0.742000	0.04850	0.983000	0.38602	-0.127000	0.14921	GGC		0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074	
TPRG1L	127262	broad.mit.edu	37	1	3544148	3544148	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:3544148C>T	ENST00000378344.2	+	4	626	c.555C>T	c.(553-555)aaC>aaT	p.N185N	RP11-46F15.2_ENST00000435049.1_RNA|TPRG1L_ENST00000344579.5_Silent_p.N126N	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	185						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)		p.N185N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GGTCTACCAACGTGCCCTATG	0.498																																					p.N185N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	1						.						163.0	161.0	161.0					1																	3544148		2203	4300	6503	3534008	SO:0001819	synonymous_variant	127262	exon4			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.555C>T	1.37:g.3544148C>T			3534008	NM_182752	A8K1K4|Q8WV04	Silent	SNP	ENST00000378344.2	37	CCDS47.1																																																																																				0.498	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752	
TAS1R1	80835	broad.mit.edu	37	1	6637022	6637022	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:6637022G>A	ENST00000333172.6	+	5	1679	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	TAS1R1_ENST00000351136.3_Missense_Mutation_p.V242M|TAS1R1_ENST00000328191.4_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	496					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.V496M(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTAAGTCTGTGTGTTCCAG	0.547																																					p.V242M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	1						.						153.0	148.0	150.0					1																	6637022		2203	4300	6503	6559609	SO:0001583	missense	80835	exon4				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1486G>A	1.37:g.6637022G>A	ENSP00000331867:p.Val496Met		6559609	NM_177540	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510138	0.27036	.	.	ENSG00000173662	ENST00000333172;ENST00000437392;ENST00000351136	D;T	0.91068	-2.78;-0.93	5.15	5.15	0.70609	GPCR, family 3, nine cysteines domain (1);	0.273560	0.35970	N	0.002874	D	0.94555	0.8246	M	0.70275	2.135	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.963	D;D;P	0.80764	0.971;0.994;0.816	D	0.94485	0.7696	10	0.51188	T	0.08	.	15.7908	0.78364	0.0:0.0:1.0:0.0	.	242;242;496	Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;TS1R1_HUMAN	M	496;164;242	ENSP00000331867:V496M;ENSP00000312558:V242M	ENSP00000331867:V496M	V	+	1	0	TAS1R1	6559609	0.576000	0.26700	0.705000	0.30386	0.493000	0.33554	0.859000	0.27858	2.367000	0.80283	0.591000	0.81541	GTG		0.547	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
DNAJC11	55735	broad.mit.edu	37	1	6705926	6705926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:6705926G>A	ENST00000377577.5	-	8	940	c.817C>T	c.(817-819)Cga>Tga	p.R273*	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Nonsense_Mutation_p.R235*|DNAJC11_ENST00000294401.7_Nonsense_Mutation_p.R273*|DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000377573.5_Nonsense_Mutation_p.R183*	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	273						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.R273*(1)|p.R303*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ATACCCCATCGCCACTGCAGG	0.567																																					p.R273X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C817T	1						.						183.0	168.0	173.0					1																	6705926		2203	4300	6503	6628513	SO:0001587	stop_gained	55735	exon8			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.817C>T	1.37:g.6705926G>A	ENSP00000366800:p.Arg273*		6628513	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Nonsense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	37	6.353481	0.97498	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9795	17.9566	0.89070	0.0:0.0:1.0:0.0	.	.	.	.	X	273;273;235;183;303	.	ENSP00000294401:R273X	R	-	1	2	DNAJC11	6628513	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	6.114000	0.71560	2.472000	0.83506	0.650000	0.86243	CGA		0.567	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
MFN2	9927	broad.mit.edu	37	1	12066665	12066667	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	AGG	AGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:12066665_12066667delAGG	ENST00000235329.5	+	16	2109_2111	c.1787_1789delAGG	c.(1786-1791)caggag>cag	p.E598del	MFN2_ENST00000444836.1_In_Frame_Del_p.E598del	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	598					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.E296delE(1)|p.E598delE(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)		TCGCTCACCCAGGAGGAGTTCAT	0.601																																					p.596_597del												.	.	2	Deletion - In frame(2)	large_intestine(2)	c.1787_1789del	1						.																																			11989254	SO:0001651	inframe_deletion	9927	exon15			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.1787_1789delAGG	1.37:g.12066668_12066670delAGG	ENSP00000235329:p.Glu598del		11989252	NM_001127660	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	In_Frame_Del	DEL	ENST00000235329.5	37	CCDS30587.1																																																																																				0.601	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	
PRDM2	7799	broad.mit.edu	37	1	14108749	14108749	+	Frame_Shift_Del	DEL	A	A	-	rs141416335|rs57173229		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:14108749delA	ENST00000235372.7	+	8	5315	c.4459delA	c.(4459-4461)aaafs	p.K1489fs	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.K1288fs|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.K1489fs|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.K1288fs	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V1490fs*74(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCTCCTCCCAAAAAAAAAGT	0.463																																					p.K1286fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3856delA	1						.						141.0	165.0	157.0					1																	14108749		2203	4300	6503	13981336	SO:0001589	frameshift_variant	7799	exon3			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4459delA	1.37:g.14108749delA	ENSP00000235372:p.Lys1489fs		13981336	NM_001007257	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Frame_Shift_Del	DEL	ENST00000235372.7	37	CCDS150.1																																																																																				0.463	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
EPHA2	1969	broad.mit.edu	37	1	16474977	16474977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:16474977delC	ENST00000358432.5	-	3	873	c.719delG	c.(718-720)ggtfs	p.G240fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	240	Cys-rich.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G240fs*153(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGGCTCTTCACCCCCCGGTGG	0.667																																					p.G240fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.719delG	1						.						63.0	60.0	61.0					1																	16474977		2203	4300	6503	16347564	SO:0001589	frameshift_variant	1969	exon3			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.719delG	1.37:g.16474977delC	ENSP00000351209:p.Gly240fs		16347564	NM_004431	B5A968|Q8N3Z2	Frame_Shift_Del	DEL	ENST00000358432.5	37	CCDS169.1																																																																																				0.667	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	
ZNF593	51042	broad.mit.edu	37	1	26497139	26497139	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:26497139delC	ENST00000374266.5	+	3	450	c.337delC	c.(337-339)cccfs	p.P114fs	ZNF593_ENST00000270812.5_Frame_Shift_Del_p.A144fs|RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000444682.1_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	114					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R115fs*>20(1)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCTATGTGCCCCCCAGGCG	0.597																																					p.P113fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.337delC	1						.						78.0	83.0	81.0					1																	26497139		2203	4300	6503	26369726	SO:0001589	frameshift_variant	51042	exon3			D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.337delC	1.37:g.26497139delC	ENSP00000363384:p.Pro114fs		26369726	NM_015871	B2R4S0|Q5T2H7	Frame_Shift_Del	DEL	ENST00000374266.5	37	CCDS275.2																																																																																				0.597	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871	
CNKSR1	10256	broad.mit.edu	37	1	26507365	26507365	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:26507365G>A	ENST00000374253.5	+	3	409	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.A124T|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	124	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				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.A124T(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)		TGAAGCTGACGCCCTCCTCTT	0.572																																					p.A124T	NSCLC(180;1396 2109 28270 30756 34275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	1						.						95.0	82.0	87.0					1																	26507365		2203	4300	6503	26379952	SO:0001583	missense	10256	exon3			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.370G>A	1.37:g.26507365G>A	ENSP00000363371:p.Ala124Thr		26379952	NM_006314	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	G	3.782	-0.045511	0.07452	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.14391	2.51;2.51	5.0	-4.07	0.03975	CRIC domain (1);CRIC domain, Chordata (1);	0.558546	0.18669	N	0.134517	T	0.05686	0.0149	N	0.21583	0.68	0.09310	N	0.999994	B;B	0.13594	0.008;0.008	B;B	0.14023	0.01;0.006	T	0.29027	-1.0025	10	0.23891	T	0.37	-2.5793	2.5271	0.04694	0.3061:0.1157:0.4412:0.137	.	124;124	Q969H4;Q53GM7	CNKR1_HUMAN;.	T	124	ENSP00000354609:A124T;ENSP00000363371:A124T	ENSP00000354609:A124T	A	+	1	0	CNKSR1	26379952	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.078000	0.14761	-0.664000	0.05324	-0.122000	0.15005	GCC		0.572	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
AHDC1	27245	broad.mit.edu	37	1	27875371	27875371	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:27875371A>C	ENST00000247087.5	-	5	3852	c.3256T>G	c.(3256-3258)Tcc>Gcc	p.S1086A	AHDC1_ENST00000374011.2_Missense_Mutation_p.S1086A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1086							DNA binding (GO:0003677)	p.S1086A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		gaggaggaggaggCGGCAGAG	0.677																																					p.S1086A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3256G	1						.						15.0	18.0	17.0					1																	27875371		2178	4270	6448	27747958	SO:0001583	missense	27245	exon6			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3256T>G	1.37:g.27875371A>C	ENSP00000247087:p.Ser1086Ala		27747958	NM_001029882	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.688671	0.29962	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.48522	0.81;0.81	4.4	4.4	0.53042	.	0.382752	0.19568	N	0.111150	T	0.33673	0.0871	N	0.08118	0	0.37300	D	0.908672	P	0.47106	0.89	P	0.46718	0.525	T	0.36817	-0.9732	10	0.40728	T	0.16	-15.6909	12.2476	0.54578	1.0:0.0:0.0:0.0	.	1086	Q5TGY3	AHDC1_HUMAN	A	1086	ENSP00000247087:S1086A;ENSP00000363123:S1086A	ENSP00000247087:S1086A	S	-	1	0	AHDC1	27747958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.484000	0.53201	2.208000	0.71279	0.533000	0.62120	TCC		0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3		
DNAJC8	22826	broad.mit.edu	37	1	28534915	28534915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:28534915G>A	ENST00000263697.4	-	6	435	c.409C>T	c.(409-411)Cga>Tga	p.R137*	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	137					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)		p.R137*(1)		kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTTTTTTCGCTCTTTCACC	0.348																																					p.R137X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C409T	1						.						91.0	77.0	81.0					1																	28534915		1835	4086	5921	28407502	SO:0001587	stop_gained	22826	exon6			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.409C>T	1.37:g.28534915G>A	ENSP00000263697:p.Arg137*		28407502	NM_014280	B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Nonsense_Mutation	SNP	ENST00000263697.4	37	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837790	0.97009	.	.	ENSG00000126698	ENST00000263697	.	.	.	5.92	4.0	0.46444	.	0.125096	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-10.9349	14.1557	0.65417	0.0:0.0:0.4452:0.5547	.	.	.	.	X	137	.	ENSP00000263697:R137X	R	-	1	2	DNAJC8	28407502	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.697000	0.47060	0.791000	0.33826	0.557000	0.71058	CGA		0.348	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280	
CSMD2	114784	broad.mit.edu	37	1	34123663	34123663	+	Missense_Mutation	SNP	C	C	T	rs200976511		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:34123663C>T	ENST00000373380.1	-	6	1169	c.949G>A	c.(949-951)Ggc>Agc	p.G317S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.G1444S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1404						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1404S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGGAGTCGCCGGCTTCCCAA	0.582													c|||	1	0.000199681	0.0	0.0014	5008	,	,		21829	0.0		0.0	False		,,,				2504	0.0				p.G1404S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4210A	1						.						114.0	106.0	109.0					1																	34123663		2203	4300	6503	33896250	SO:0001583	missense	114784	exon27			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.949G>A	1.37:g.34123663C>T	ENSP00000362478:p.Gly317Ser		33896250	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	36	5.654052	0.96724	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.72394	-0.65;-0.65	5.94	5.94	0.96194	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.91038	3.17	0.80722	D	1	P;D;B	0.69078	0.819;0.997;0.32	B;D;B	0.63793	0.416;0.918;0.036	D	0.89101	0.3489	10	0.72032	D	0.01	.	19.348	0.94373	0.0:1.0:0.0:0.0	.	317;1404;1444	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	S	1444;317	ENSP00000362479:G1444S;ENSP00000362478:G317S	ENSP00000241312:G1404S	G	-	1	0	CSMD2	33896250	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	7.815000	0.86186	2.813000	0.96785	0.558000	0.71614	GGC		0.582	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
AGO1	26523	broad.mit.edu	37	1	36358210	36358210	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:36358210C>T	ENST00000373204.4	+	3	475	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	AGO1_ENST00000373206.1_Missense_Mutation_p.R13C	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	88					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)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R88C(1)									CTTTGGTGATCGCAAGCCTGT	0.517																																					p.R88C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C262T	1						.						115.0	99.0	105.0					1																	36358210		2203	4300	6503	36130797	SO:0001583	missense	26523	exon3			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.262C>T	1.37:g.36358210C>T	ENSP00000362300:p.Arg88Cys		36130797	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076038	0.36662	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.11277	2.79;2.89	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.053692	0.64402	D	0.000001	T	0.12689	0.0308	L	0.48174	1.505	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02009	-1.1230	10	0.52906	T	0.07	-21.5631	14.6897	0.69076	0.1451:0.8549:0.0:0.0	.	88	Q9UL18	AGO1_HUMAN	C	13;88	ENSP00000362302:R13C;ENSP00000362300:R88C	ENSP00000362300:R88C	R	+	1	0	EIF2C1	36130797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.436000	0.34980	2.704000	0.92352	0.591000	0.81541	CGC		0.517	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
MAP7D1	55700	broad.mit.edu	37	1	36636900	36636900	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:36636900C>T	ENST00000373151.2	+	2	591	c.375C>T	c.(373-375)agC>agT	p.S125S	MAP7D1_ENST00000373150.4_Silent_p.S125S|MAP7D1_ENST00000316156.4_Silent_p.S125S	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	125	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.S125S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCTCCGACAGCCCTCCCACCA	0.622																																					p.S125S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	1						.						23.0	23.0	23.0					1																	36636900		2200	4299	6499	36409487	SO:0001819	synonymous_variant	55700	exon2			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.375C>T	1.37:g.36636900C>T			36409487	NM_018067	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	CCDS30673.1																																																																																				0.622	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067	
EPHA10	284656	broad.mit.edu	37	1	38197176	38197176	+	Missense_Mutation	SNP	G	G	A	rs182568246	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:38197176G>A	ENST00000373048.4	-	7	1569	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.R19C|EPHA10_ENST00000330210.7_Missense_Mutation_p.R19C|EPHA10_ENST00000427468.2_Missense_Mutation_p.R524C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	524	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.R525C(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGACGTAGCGGGTAGCCGGC	0.587													G|||	9	0.00179712	0.0	0.0	5008	,	,		15976	0.0089		0.0	False		,,,				2504	0.0				p.R524C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1570T	1						.						103.0	105.0	105.0					1																	38197176		1922	4131	6053	37969763	SO:0001583	missense	284656	exon7			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1570C>T	1.37:g.38197176G>A	ENSP00000362139:p.Arg524Cys		37969763	NM_001099439	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	16.72	3.201379	0.58234	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.77229	-1.08;0.36;-1.08;0.36	4.77	3.82	0.43975	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001308	T	0.69424	0.3109	L	0.36672	1.1	0.27558	N	0.950278	D	0.69078	0.997	P	0.56088	0.791	T	0.64774	-0.6328	9	.	.	.	.	8.684	0.34225	0.0:0.1599:0.6622:0.1779	.	524	Q5JZY3	EPHAA_HUMAN	C	19;524;19;524	ENSP00000330379:R19C;ENSP00000397746:R524C;ENSP00000441822:R19C;ENSP00000362139:R524C	.	R	-	1	0	EPHA10	37969763	0.995000	0.38212	0.998000	0.56505	0.982000	0.71751	0.763000	0.26517	1.154000	0.42482	0.563000	0.77884	CGC		0.587	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
MACF1	23499	broad.mit.edu	37	1	39801345	39801345	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:39801345G>A	ENST00000372915.3	+	36	9187	c.9100G>A	c.(9100-9102)Gct>Act	p.A3034T	MACF1_ENST00000289893.4_Missense_Mutation_p.A1469T|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A3066T|MACF1_ENST00000564288.1_Missense_Mutation_p.A3029T|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3034					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.A1469T(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)			AGGGAAAGAAGCTGATACAGA	0.368																																					p.A1469T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4405A	1						.						61.0	65.0	64.0					1																	39801345		2203	4300	6503	39573932	SO:0001583	missense	23499	exon1			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.9100G>A	1.37:g.39801345G>A	ENSP00000362006:p.Ala3034Thr		39573932	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	6.129	0.392026	0.11581	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.63255	-0.03;1.07	5.53	-9.43	0.00607	.	1.411050	0.04487	N	0.378761	T	0.37100	0.0991	N	0.24115	0.695	0.25235	N	0.989792	B	0.06786	0.001	B	0.04013	0.001	T	0.13282	-1.0515	10	0.38643	T	0.18	.	1.8801	0.03226	0.4494:0.0965:0.1391:0.3149	.	3034	Q9UPN3	MACF1_HUMAN	T	3034;1469	ENSP00000362006:A3034T;ENSP00000289893:A1469T	ENSP00000289893:A1469T	A	+	1	0	MACF1	39573932	0.000000	0.05858	0.002000	0.10522	0.220000	0.24768	-0.796000	0.04575	-1.351000	0.02197	0.467000	0.42956	GCT		0.368	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
RIMS3	9783	broad.mit.edu	37	1	41101705	41101705	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:41101705C>T	ENST00000372684.3	-	4	711	c.242G>A	c.(241-243)aGc>aAc	p.S81N	RIMS3_ENST00000372683.1_Missense_Mutation_p.S81N	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	81					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.S81N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCGGATGTTGCTGCGCAGCTT	0.632																																					p.S81N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242A	1						.						58.0	56.0	57.0					1																	41101705		2203	4300	6503	40874292	SO:0001583	missense	9783	exon4			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.242G>A	1.37:g.41101705C>T	ENSP00000361769:p.Ser81Asn		40874292	NM_014747	D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224186	0.95139	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.38722	1.12;1.12	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.68593	2.085	0.80722	D	1	D	0.58970	0.984	P	0.50162	0.633	T	0.50259	-0.8849	10	0.37606	T	0.19	-23.516	15.9164	0.79521	0.0:1.0:0.0:0.0	.	81	Q9UJD0	RIMS3_HUMAN	N	81	ENSP00000361769:S81N;ENSP00000361768:S81N	ENSP00000361768:S81N	S	-	2	0	RIMS3	40874292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.851000	0.69481	2.626000	0.88956	0.650000	0.86243	AGC		0.632	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747	
TIE1	7075	broad.mit.edu	37	1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:43772910delC	ENST00000372476.3	+	5	817	c.738delC	c.(736-738)tgcfs	p.C246fs	TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	246	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632																																					p.C246fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.738delC	1						.						56.0	53.0	54.0					1																	43772910		2203	4300	6503	43545497	SO:0001589	frameshift_variant	7075	exon5			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.738delC	1.37:g.43772910delC	ENSP00000361554:p.Cys246fs		43545497	NM_005424	B5A949|B5A950	Frame_Shift_Del	DEL	ENST00000372476.3	37	CCDS482.1																																																																																				0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
MED8	112950	broad.mit.edu	37	1	43852603	43852603	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:43852603G>A	ENST00000372457.4	-	4	380	c.337C>T	c.(337-339)Cct>Tct	p.P113S	RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000372450.4_5'Flank|MED8_ENST00000290663.6_Missense_Mutation_p.P113S|SZT2_ENST00000310739.4_5'Flank|MED8_ENST00000372455.4_Missense_Mutation_p.P24S	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	113					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P113S(1)|p.P24S(1)		endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCAGGGTCAGGCTTGGTTCTC	0.532																																					p.P113S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C337T	1						.						190.0	165.0	174.0					1																	43852603		2203	4300	6503	43625190	SO:0001583	missense	112950	exon4			AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.337C>T	1.37:g.43852603G>A	ENSP00000361535:p.Pro113Ser		43625190	NM_052877	A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787538	0.90367	.	.	ENSG00000159479	ENST00000290663;ENST00000372457;ENST00000372455	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.959;1.0	P;D	0.87578	0.777;0.998	D	0.83883	0.0280	9	0.49607	T	0.09	0.1849	20.1184	0.97949	0.0:0.0:1.0:0.0	.	113;113	Q96G25;Q96G25-2	MED8_HUMAN;.	S	113;113;24	.	ENSP00000290663:P113S	P	-	1	0	MED8	43625190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.769000	0.95229	0.655000	0.94253	CCT		0.532	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877	
MAST2	23139	broad.mit.edu	37	1	46500713	46500713	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:46500713C>T	ENST00000361297.2	+	29	4655	c.4372C>T	c.(4372-4374)Ctg>Ttg	p.L1458L	MAST2_ENST00000372009.2_Silent_p.L1268L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.L1458L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAGGAGTGTGCTGTCTGGCAA	0.652																																					p.L1458L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4372T	1						.						24.0	29.0	27.0					1																	46500713		2002	4163	6165	46273300	SO:0001819	synonymous_variant	23139	exon29			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4372C>T	1.37:g.46500713C>T			46273300	NM_015112		Silent	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																				0.652	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
POMGNT1	55624	broad.mit.edu	37	1	46658599	46658599	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:46658599T>C	ENST00000371984.3	-	14	1341	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	POMGNT1_ENST00000371992.1_Missense_Mutation_p.D395G|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.D373G|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.D395G	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	395					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.D395G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					AATGTCCAGGTCCTCTTCCAG	0.527																																					p.D395G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1184G	1						.						223.0	231.0	228.0					1																	46658599		2203	4300	6503	46431186	SO:0001583	missense	55624	exon14				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1184A>G	1.37:g.46658599T>C	ENSP00000361052:p.Asp395Gly		46431186	NM_017739	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035840	0.93630	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.91300	3.195	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;1.0;1.0;1.0;1.0	D	0.99655	1.0992	10	0.66056	D	0.02	-29.4679	15.9582	0.79902	0.0:0.0:0.0:1.0	.	373;373;395;252;395	F5H827;B7Z7Q4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;PMGT1_HUMAN	G	395;395;373;395	ENSP00000361052:D395G;ENSP00000361060:D395G;ENSP00000443767:D373G;ENSP00000361054:D395G	ENSP00000361052:D395G	D	-	2	0	POMGNT1	46431186	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.727000	0.54984	2.165000	0.68154	0.459000	0.35465	GAC		0.527	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739	
ORC1	4998	broad.mit.edu	37	1	52854166	52854166	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:52854166C>T	ENST00000371568.3	-	8	1549	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	ORC1_ENST00000371566.1_Missense_Mutation_p.R444Q	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	444					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R444Q(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAAGGAAGATCGCAGGTTCCT	0.502																																					p.R444Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1331A	1						.						250.0	227.0	235.0					1																	52854166		2203	4300	6503	52626754	SO:0001583	missense	4998	exon8				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1331G>A	1.37:g.52854166C>T	ENSP00000360623:p.Arg444Gln		52626754	NM_001190818	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.077038	0.20227	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.43294	0.95;0.95	5.23	-7.92	0.01160	.	1.088870	0.06814	N	0.790970	T	0.22003	0.0530	N	0.17082	0.46	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.09377	0.004;0.003	T	0.34650	-0.9820	10	0.12766	T	0.61	5.1412	13.0358	0.58870	0.0:0.1736:0.0968:0.7296	.	444;444	B7Z8H0;Q13415	.;ORC1_HUMAN	Q	444	ENSP00000360623:R444Q;ENSP00000360621:R444Q	ENSP00000360621:R444Q	R	-	2	0	ORC1	52626754	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.802000	0.00760	-1.758000	0.01315	-0.948000	0.02665	CGA		0.502	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
C8B	732	broad.mit.edu	37	1	57411568	57411568	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:57411568T>C	ENST00000371237.4	-	7	1097	c.1031A>G	c.(1030-1032)tAc>tGc	p.Y344C	C8B_ENST00000543257.1_Missense_Mutation_p.Y292C|C8B_ENST00000535057.1_Missense_Mutation_p.Y282C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	344	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.Y344C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTCTGTGATGTAGTGGGTCCC	0.512																																					p.Y344C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1031G	1						.						87.0	84.0	85.0					1																	57411568		2203	4300	6503	57184156	SO:0001583	missense	732	exon7			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1031A>G	1.37:g.57411568T>C	ENSP00000360281:p.Tyr344Cys		57184156	NM_000066	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337455	0.60963	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.87103	-2.21;-2.21;-2.21	4.71	0.887	0.19200	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.319059	0.34777	N	0.003696	D	0.90154	0.6923	M	0.79258	2.445	0.44611	D	0.99758	D;D;D	0.65815	0.988;0.993;0.995	P;P;P	0.62649	0.8;0.8;0.905	D	0.88258	0.2921	10	0.87932	D	0	-7.2137	6.0779	0.19925	0.4547:0.0757:0.0:0.4695	.	292;282;344	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	C	344;292;282	ENSP00000360281:Y344C;ENSP00000442548:Y292C;ENSP00000440113:Y282C	ENSP00000360281:Y344C	Y	-	2	0	C8B	57184156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.409000	0.34680	0.785000	0.33685	0.533000	0.62120	TAC		0.512	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
CACHD1	57685	broad.mit.edu	37	1	65145313	65145313	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:65145313G>A	ENST00000371073.2	+	24	3280	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.A1043T			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1094					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.A1043T(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GATTAAAAGCGCCCCTGTGGG	0.493																																					p.A1043T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3127A	1						.						91.0	100.0	97.0					1																	65145313		2203	4300	6503	64917901	SO:0001583	missense	57685	exon24			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3280G>A	1.37:g.65145313G>A	ENSP00000360113:p.Ala1094Thr		64917901	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.953957	0.92660	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.25085	1.82;1.83	6.06	6.06	0.98353	.	0.045965	0.85682	D	0.000000	T	0.29850	0.0746	N	0.17474	0.49	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.17992	-1.0351	10	0.66056	D	0.02	-28.8355	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1094	Q5VU97	CAHD1_HUMAN	T	1094;1043	ENSP00000360113:A1094T;ENSP00000290039:A1043T	ENSP00000290039:A1043T	A	+	1	0	CACHD1	64917901	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.281000	0.95811	2.879000	0.98667	0.650000	0.86243	GCC		0.493	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
RAVER2	55225	broad.mit.edu	37	1	65243319	65243319	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:65243319A>G	ENST00000294428.3	+	3	408	c.330A>G	c.(328-330)ttA>ttG	p.L110L	RAVER2_ENST00000430964.2_5'Flank|RAVER2_ENST00000371072.4_Silent_p.L110L			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	110	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L110L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTGTTACCTTATTGAATGGGG	0.343																																					p.L110L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A330G	1						.						76.0	66.0	69.0					1																	65243319		1826	4076	5902	65015907	SO:0001819	synonymous_variant	55225	exon3			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.330A>G	1.37:g.65243319A>G			65015907	NM_018211	Q6P141|Q9NPV7	Silent	SNP	ENST00000294428.3	37																																																																																					0.343	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211	
FPGT	8790	broad.mit.edu	37	1	74670772	74670774	+	In_Frame_Del	DEL	TGT	TGT	-	rs373692012		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	TGT	TGT	TGT	-	TGT	TGT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:74670772_74670774delTGT	ENST00000609362.1	+	4	1078_1080	c.1041_1043delTGT	c.(1039-1044)aatgtt>aat	p.V350del	FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370898.3_In_Frame_Del_p.V363del|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	350					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.V350delV(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CATCACTAAATGTTGTTGTTCTT	0.335																																					p.347_348del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1041_1043del	1						.																																			74443362	SO:0001651	inframe_deletion	8790	exon4			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1041_1043delTGT	1.37:g.74670778_74670780delTGT	ENSP00000476680:p.Val350del		74443360	NM_003838	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	In_Frame_Del	DEL	ENST00000609362.1	37	CCDS663.1																																																																																				0.335	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ERICH3	127254	broad.mit.edu	37	1	75086431	75086431	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:75086431T>G	ENST00000326665.5	-	8	1205	c.987A>C	c.(985-987)aaA>aaC	p.K329N	C1orf173_ENST00000420661.2_Missense_Mutation_p.K132N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		329								p.K329N(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						TTTCAAGTAGTTTGCCTTTGT	0.343																																					p.K329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A987C	1						.						103.0	100.0	101.0					1																	75086431		2203	4300	6503	74859019	SO:0001583	missense	127254	exon8																														ENST00000326665.5:c.987A>C	1.37:g.75086431T>G	ENSP00000322609:p.Lys329Asn		74859019	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.847589	0.51164	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19532	2.58;2.14	5.88	3.55	0.40652	.	.	.	.	.	T	0.09862	0.0242	L	0.42245	1.32	0.32920	D	0.515647	P;P	0.46512	0.587;0.879	B;P	0.45639	0.225;0.488	T	0.11203	-1.0597	9	0.35671	T	0.21	-22.7933	8.7695	0.34724	0.0:0.2331:0.0:0.7669	.	132;329	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	N	329;132	ENSP00000322609:K329N;ENSP00000398581:K132N	ENSP00000322609:K329N	K	-	3	2	C1orf173	74859019	0.510000	0.26171	0.989000	0.46669	0.997000	0.91878	0.079000	0.14782	0.476000	0.27440	0.533000	0.62120	AAA		0.343	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
SLC44A5	204962	broad.mit.edu	37	1	75681475	75681475	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:75681475A>G	ENST00000370855.5	-	19	1805	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	SLC44A5_ENST00000535611.1_Silent_p.N434N|SLC44A5_ENST00000370859.3_Silent_p.N564N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	564					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N564N(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACTTTATTGCATTTTCCAAAC	0.333																																					p.N564N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1692C	1						.						76.0	78.0	77.0					1																	75681475		2203	4299	6502	75454063	SO:0001819	synonymous_variant	204962	exon19			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1692T>C	1.37:g.75681475A>G			75454063	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	CCDS667.1																																																																																				0.333	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
USP33	23032	broad.mit.edu	37	1	78187813	78187813	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:78187813C>A	ENST00000370793.1	-	14	1897	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N	USP33_ENST00000370794.3_Missense_Mutation_p.K486N|USP33_ENST00000370792.3_Missense_Mutation_p.K517N|USP33_ENST00000357428.1_Missense_Mutation_p.K517N	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	517	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K517N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATGAATGCAGCTTAGCAAGGT	0.418																																					p.K517N	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1551T	1						.						109.0	106.0	107.0					1																	78187813		2203	4300	6503	77960401	SO:0001583	missense	23032	exon14			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1551G>T	1.37:g.78187813C>A	ENSP00000359829:p.Lys517Asn		77960401	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.792561|2.792561	0.50102|0.50102	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792|ENST00000481579	T;T;T;T|.	0.11277|.	2.8;2.79;2.79;2.81|.	5.17|5.17	4.26|4.26	0.50523|0.50523	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50309|0.50309	0.1608|0.1608	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999985|0.999985	B;B;B|.	0.29671|.	0.214;0.208;0.254|.	B;B;P|.	0.44647|.	0.326;0.323;0.456|.	T|T	0.51529|0.51529	-0.8694|-0.8694	10|5	0.19590|.	T|.	0.45|.	.|.	10.9329|10.9329	0.47228|0.47228	0.0:0.8351:0.0:0.1649|0.0:0.8351:0.0:0.1649	.|.	517;486;517|.	Q8TEY7-3;Q8TEY7-2;Q8TEY7|.	.;.;UBP33_HUMAN|.	N|I	486;517;517;517|122	ENSP00000359830:K486N;ENSP00000359829:K517N;ENSP00000350009:K517N;ENSP00000359828:K517N|.	ENSP00000350009:K517N|.	K|S	-|-	3|2	2|0	USP33|USP33	77960401|77960401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	3.041000|3.041000	0.49807|0.49807	1.325000|1.325000	0.45301|0.45301	0.591000|0.591000	0.81541|0.81541	AAG|AGC		0.418	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
DNAJB4	11080	broad.mit.edu	37	1	78478810	78478810	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:78478810C>T	ENST00000370763.5	+	2	544	c.287C>T	c.(286-288)gCt>gTt	p.A96V	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	96					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.A96V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GATCCTCATGCTACATTTGCT	0.443																																					p.A96V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287T	1						.						107.0	110.0	109.0					1																	78478810		2203	4300	6503	78251398	SO:0001583	missense	11080	exon2			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.287C>T	1.37:g.78478810C>T	ENSP00000359799:p.Ala96Val		78251398	NM_007034	B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	CCDS684.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370300	0.82573	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.73047	-0.71;-0.71	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.90483	3.12	0.80722	D	1	B	0.33345	0.409	B	0.29524	0.103	T	0.72440	-0.4293	10	0.33141	T	0.24	.	19.1866	0.93647	0.0:1.0:0.0:0.0	.	96	Q9UDY4	DNJB4_HUMAN	V	96	ENSP00000399494:A96V;ENSP00000359799:A96V	ENSP00000359799:A96V	A	+	2	0	DNAJB4	78251398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.499000	0.84300	0.644000	0.83932	GCT		0.443	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3		
Unknown	0	broad.mit.edu	37	1	84998650	84998650	+	IGR	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:84998650delA								SPATA1 (6079 upstream) : CTBS (16638 downstream)														p.S242fs*45(1)									CTTTGGCACTAAAAAAAGGTA	0.308																																					.												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	.	1						.						46.0	45.0	46.0					1																	84998650		2112	4106	6218	84771238	SO:0001628	intergenic_variant	64173	.																															1.37:g.84998650delA			84771238	.		Frame_Shift_Del	DEL		37																																																																																				0	0.308								
CTBS	1486	broad.mit.edu	37	1	85018772	85018772	+	3'UTR	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:85018772delA	ENST00000370630.5	-	0	3116				CTBS_ENST00000477677.1_5'Flank	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-						chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.I452fs*1(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACTGGCACAGAAAAAAAAAAT	0.239																																					.												.	.	2	Deletion - Frameshift(2)	large_intestine(1)|central_nervous_system(1)	.	1						.			84,112,2696		6,0,72,9,94,1265	4.0	4.0	4.0			4.5	1.0	1		5	187,225,6094		21,3,142,14,194,2879	no	near-gene-3				27,3,214,23,288,4144	A1A1,A1A2,A1R,A2A2,A2R,RR		6.3326,6.7773,6.4695			85018772	271,337,8790	1533	3494	5027	84791360	SO:0001624	3_prime_UTR_variant	64173	.			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.*1910T>-	1.37:g.85018772delA			84791360	.	Q5VX50	Frame_Shift_Del	DEL	ENST00000370630.5	37	CCDS698.1																																																																																				0.239	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
GBP2	2634	broad.mit.edu	37	1	89578261	89578263	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	TCT	TCT	TCT	-	TCT	TCT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:89578261_89578263delTCT	ENST00000370466.3	-	8	1522_1524	c.1254_1256delAGA	c.(1252-1257)gaagat>gat	p.E418del	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	418					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E418delE(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTGCTTGACATCTTCTTCTAAAG	0.438																																					p.418_419del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1254_1256del	1						.																																			89350851	SO:0001651	inframe_deletion	2634	exon8			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1254_1256delAGA	1.37:g.89578267_89578269delTCT	ENSP00000359497:p.Glu418del		89350849	NM_004120	Q6GPH0|Q6IAU2|Q86TB0	In_Frame_Del	DEL	ENST00000370466.3	37	CCDS719.1																																																																																				0.438	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120	
TGFBR3	7049	broad.mit.edu	37	1	92184987	92184987	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:92184987A>C	ENST00000525962.1	-	9	1509	c.1448T>G	c.(1447-1449)tTg>tGg	p.L483W	TGFBR3_ENST00000370399.2_Missense_Mutation_p.L482W|TGFBR3_ENST00000212355.4_Missense_Mutation_p.L483W			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	483	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L483W(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGTAGGATCCAACAGGGTGAC	0.532																																					p.L482W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1445G	1						.						139.0	120.0	126.0					1																	92184987		2203	4300	6503	91957575	SO:0001583	missense	7049	exon10			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1448T>G	1.37:g.92184987A>C	ENSP00000436127:p.Leu483Trp		91957575	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.754869	0.31046	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.78	3.1	0.35709	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.714919	0.13357	N	0.393940	T	0.82254	0.4997	L	0.60455	1.87	0.19300	N	0.999974	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.969;0.971;0.969	T	0.71600	-0.4544	10	0.66056	D	0.02	-7.053	8.075	0.30712	0.7838:0.1375:0.0787:0.0	.	483;482;483	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	W	483;482;483;482	ENSP00000212355:L483W;ENSP00000359426:L482W;ENSP00000436127:L483W;ENSP00000432638:L482W	ENSP00000212355:L483W	L	-	2	0	TGFBR3	91957575	0.998000	0.40836	0.618000	0.29105	0.089000	0.18198	2.211000	0.42825	0.996000	0.38943	0.455000	0.32223	TTG		0.532	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
ABCA4	24	broad.mit.edu	37	1	94466558	94466558	+	Splice_Site	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:94466558C>A	ENST00000370225.3	-	46	6472	c.6386G>T	c.(6385-6387)aGc>aTc	p.S2129I	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000536513.1_Splice_Site_p.S399I|ABCA4_ENST00000535881.1_Splice_Site_p.S248I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2129	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.S2129I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATCTCTTGCCTGTGGGATGT	0.607																																					p.S2129I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6386T	1						.						107.0	98.0	101.0					1																	94466558		2203	4300	6503	94239146	SO:0001630	splice_region_variant	24	exon46			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6386+1G>T	1.37:g.94466558C>A			94239146	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454199	0.96223	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.97870	-4.58;-4.58;-4.58	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.221821	0.53938	D	0.000058	D	0.92331	0.7567	N	0.20610	0.595	0.80722	D	1	B	0.19331	0.035	B	0.22386	0.039	D	0.88567	0.3127	9	.	.	.	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	2129	P78363	ABCA4_HUMAN	I	921;2129;399;248	ENSP00000359245:S2129I;ENSP00000439707:S399I;ENSP00000443203:S248I	.	S	-	2	0	ABCA4	94239146	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.762000	0.85270	2.779000	0.95612	0.655000	0.94253	AGC		0.607	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Missense_Mutation
ABCA4	24	broad.mit.edu	37	1	94497337	94497337	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:94497337C>T	ENST00000370225.3	-	27	4211	c.4125G>A	c.(4123-4125)gcG>gcA	p.A1375A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1375					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A1375A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATAGTACCTGCGCCAGGAAGT	0.577																																					p.A1375A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4125A	1						.						84.0	76.0	79.0					1																	94497337		2203	4300	6503	94269925	SO:0001819	synonymous_variant	24	exon27			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4125G>A	1.37:g.94497337C>T			94269925	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.577	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94517196	94517196	+	Silent	SNP	G	G	A	rs180921875	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:94517196G>A	ENST00000370225.3	-	17	2732	c.2646C>T	c.(2644-2646)ggC>ggT	p.G882G	ABCA4_ENST00000535735.1_Silent_p.G808G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	882				G -> S (in Ref. 1; AAC51144 and 3; CAA75729). {ECO:0000305}.	phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.G882G(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACCTTCACCGCCAAGCCAAT	0.418													g|||	3	0.000599042	0.0	0.0	5008	,	,		18065	0.003		0.0	False		,,,				2504	0.0				p.G882G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2646T	1						.						71.0	65.0	67.0					1																	94517196		2203	4300	6503	94289784	SO:0001819	synonymous_variant	24	exon17			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2646C>T	1.37:g.94517196G>A			94289784	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.418	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
DPYD	1806	broad.mit.edu	37	1	97700456	97700456	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:97700456A>G	ENST00000370192.3	-	19	2494	c.2394T>C	c.(2392-2394)tcT>tcC	p.S798S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	798					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.S798S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CACTTTCAGCAGAGTCAATTC	0.468																																					p.S798S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2394C	1						.						115.0	93.0	100.0					1																	97700456		2203	4300	6503	97473044	SO:0001819	synonymous_variant	1806	exon19			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2394T>C	1.37:g.97700456A>G			97473044	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.468	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PLPPR4	9890	broad.mit.edu	37	1	99762379	99762380	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:99762379_99762380GC>TG	ENST00000370185.3	+	3	991_992	c.494_495GC>TG	c.(493-495)gGC>gTG	p.G165V	LPPR4_ENST00000370184.1_5'Flank|LPPR4_ENST00000457765.1_Missense_Mutation_p.G165V	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		165					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.G165>?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGCTGGAGGCTGCAACTTCA	0.416																																					.												.	.	1	Complex(1)	large_intestine(1)	c.494_495TG	1						.																																			99534968	SO:0001583	missense	9890	exon3																														Exception_encountered	1.37:g.99762379_99762380delinsTG	ENSP00000359204:p.Gly165Val		99534967	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	DNP	ENST00000370185.3	37	CCDS757.1																																																																																				0.416	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
EPS8L3	79574	broad.mit.edu	37	1	110300580	110300580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:110300580delT	ENST00000361965.4	-	9	924	c.818delA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Frame_Shift_Del_p.N273fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Frame_Shift_Del_p.N274fs	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGTCCTTGTTTTTTTTCCC	0.542																																					p.N274fs												.	.	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.821delA	1						.						198.0	214.0	209.0					1																	110300580		2203	4300	6503	110102103	SO:0001589	frameshift_variant	79574	exon9			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.818delA	1.37:g.110300580delT	ENSP00000355255:p.Asn273fs		110102103	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Del	DEL	ENST00000361965.4	37	CCDS814.1																																																																																				0.542	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
VTCN1	79679	broad.mit.edu	37	1	117690331	117690334	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	AAAG	AAAG	AAAG	-	AAAG	AAAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:117690331_117690334delAAAG	ENST00000369458.3	-	5	873_876	c.795_798delCTTT	c.(793-798)ttctttfs	p.FF265fs	VTCN1_ENST00000328189.3_Frame_Shift_Del_p.FF149fs|VTCN1_ENST00000539893.1_Frame_Shift_Del_p.FF170fs|VTCN1_ENST00000359008.4_Frame_Shift_Del_p.FF268fs	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.F265fs*14(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGCTGATGGCAAAGAAAGAAGAGA	0.456																																					p.265_266del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.795_798del	1						.																																			117491857	SO:0001589	frameshift_variant	79679	exon5			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.795_798delCTTT	1.37:g.117690335_117690338delAAAG	ENSP00000358470:p.Phe265fs		117491854	NM_024626		Frame_Shift_Del	DEL	ENST00000369458.3	37	CCDS894.1																																																																																				0.456	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
CA14	23632	broad.mit.edu	37	1	150234978	150234979	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:150234978_150234979delGA	ENST00000369111.4	+	5	1424_1425	c.454_455delGA	c.(454-456)gagfs	p.E152fs	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	152					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.R153fs*12(1)|p.E152Q(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TGAGGCTGCTGAGAGGCCTCAG	0.52																																					p.152_152del												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	cervix(1)|large_intestine(1)	c.454_455del	1						.																																			148501603	SO:0001589	frameshift_variant	23632	exon5			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.454_455delGA	1.37:g.150234980_150234981delGA	ENSP00000358107:p.Glu152fs		148501602	NM_012113	Q5TB24|Q8NCF4	Frame_Shift_Del	DEL	ENST00000369111.4	37	CCDS947.1																																																																																				0.520	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113	
AQP10	89872	broad.mit.edu	37	1	154300301	154300301	+	IGR	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:154300301delT	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000368487.3_Intron|ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368489.3_Frame_Shift_Del_p.L9fs	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S11fs*92(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGTTCCCCTTTTTTCAATA	0.527																																					p.L9fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.26delT	1						.						240.0	221.0	228.0					1																	154300301		2203	4300	6503	152566925	SO:0001628	intergenic_variant	57198	exon1			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300301delT			152566925	NM_020452	Q5VYD3|Q5VYD4|Q8NG70	Frame_Shift_Del	DEL	ENST00000324978.3	37	CCDS1065.1																																																																																				0.527	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
FCRL5	83416	broad.mit.edu	37	1	157485406	157485406	+	3'UTR	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:157485406delC	ENST00000361835.3	-	0	3150				FCRL5_ENST00000356953.4_3'UTR|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5						negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGCTGCTTCTCCCCCAAGGGG	0.532																																					p.E995fs												.	.	0			c.2983delG	1						.																																			155752030	SO:0001624	3_prime_UTR_variant	83416	exon17			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.*59G>-	1.37:g.157485406delC			155752030	NM_001195388	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Frame_Shift_Del	DEL	ENST00000361835.3	37	CCDS1165.1																																																																																				0.532	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
NFASC	23114	broad.mit.edu	37	1	204924033	204924033	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:204924033delC	ENST00000401399.1	+	6	688	c.489delC	c.(487-489)aacfs	p.N163fs	NFASC_ENST00000367169.4_Frame_Shift_Del_p.N163fs|NFASC_ENST00000403080.1_Frame_Shift_Del_p.N163fs|NFASC_ENST00000367172.4_Frame_Shift_Del_p.N163fs|NFASC_ENST00000367170.4_Frame_Shift_Del_p.N163fs|NFASC_ENST00000339876.6_Frame_Shift_Del_p.N163fs|NFASC_ENST00000338515.6_Frame_Shift_Del_p.N163fs|NFASC_ENST00000367171.4_Frame_Shift_Del_p.N163fs|NFASC_ENST00000360049.4_Frame_Shift_Del_p.N157fs|NFASC_ENST00000404076.1_Frame_Shift_Del_p.N157fs|NFASC_ENST00000338586.6_Frame_Shift_Del_p.N163fs|NFASC_ENST00000513543.1_Frame_Shift_Del_p.N157fs|NFASC_ENST00000539706.1_Frame_Shift_Del_p.N157fs|NFASC_ENST00000404907.1_Frame_Shift_Del_p.N157fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				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.P159fs*12(1)|p.P165fs*12(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)			TCCAGTGCAACCCCCCGCCTG	0.562																																					p.N157fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.471delC	1						.						144.0	145.0	145.0					1																	204924033		2203	4300	6503	203190656	SO:0001589	frameshift_variant	23114	exon4			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.489delC	1.37:g.204924033delC	ENSP00000385637:p.Asn163fs		203190656	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Del	DEL	ENST00000401399.1	37	CCDS53460.1																																																																																				0.562	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
TRIM11	81559	broad.mit.edu	37	1	228582876	228582876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:228582876delC	ENST00000284551.6	-	6	1215	c.937delG	c.(937-939)gacfs	p.D313fs	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Frame_Shift_Del_p.D188fs	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	313	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D313fs*51(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TGCCGTAGGTCCCCCCGCTGC	0.687																																					p.D313fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.937delG	1						.						12.0	14.0	14.0					1																	228582876		2198	4294	6492	226649499	SO:0001589	frameshift_variant	81559	exon6			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.937delG	1.37:g.228582876delC	ENSP00000284551:p.Asp313fs		226649499	NM_145214	A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Frame_Shift_Del	DEL	ENST00000284551.6	37	CCDS31048.1																																																																																				0.687	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214	
KIAA1804	84451	broad.mit.edu	37	1	233514788	233514789	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:233514788_233514789delAG	ENST00000366624.3	+	9	2297_2298	c.2036_2037delAG	c.(2035-2037)cagfs	p.Q679fs	MLK4_ENST00000366622.1_Frame_Shift_Del_p.Q125fs	NM_032435.2	NP_115811.2												p.N682fs*21(1)									AAAGATGCTCAGAGAGAGAATC	0.46																																					p.679_679del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2036_2037del	1						.																																			231581412	SO:0001589	frameshift_variant	84451	exon9																														ENST00000366624.3:c.2036_2037delAG	1.37:g.233514794_233514795delAG	ENSP00000355583:p.Gln679fs		231581411	NM_032435		Frame_Shift_Del	DEL	ENST00000366624.3	37	CCDS1598.1																																																																																				0.460	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
OR2M2	391194	broad.mit.edu	37	1	248343958	248343958	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr1:248343958C>A	ENST00000359682.2	+	1	671	c.671C>A	c.(670-672)gCt>gAt	p.A224D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A224D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			GTTATTCTGGCTGTCATTCAC	0.438																																					p.A224D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671A	1						.						187.0	171.0	176.0					1																	248343958		2203	4299	6502	246410581	SO:0001583	missense	391194	exon1			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.671C>A	1.37:g.248343958C>A	ENSP00000352710:p.Ala224Asp		246410581	NM_001004688	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	11.48	1.650763	0.29336	.	.	ENSG00000198601	ENST00000359682	T	0.00258	8.41	2.03	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.282817	0.18753	U	0.132104	T	0.00695	0.0023	H	0.96489	3.83	0.09310	N	1	D	0.71674	0.998	D	0.74674	0.984	T	0.33033	-0.9884	10	0.87932	D	0	.	5.8085	0.18454	0.0:0.749:0.0:0.251	.	224	Q96R28	OR2M2_HUMAN	D	224	ENSP00000352710:A224D	ENSP00000352710:A224D	A	+	2	0	OR2M2	246410581	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.485000	0.22324	1.152000	0.42452	0.454000	0.30748	GCT		0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
SEL1L2	80343	broad.mit.edu	37	20	13846103	13846103	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:13846103A>C	ENST00000284951.5	-	16	1536	c.1462T>G	c.(1462-1464)Ttt>Gtt	p.F488V	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	488						integral component of membrane (GO:0016021)		p.F488V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTATAGGCAAAGTAAGCTGTC	0.408																																					p.F488V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1462G	20						.						98.0	93.0	94.0					20																	13846103		1894	4113	6007	13794103	SO:0001583	missense	80343	exon16			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1462T>G	20.37:g.13846103A>C	ENSP00000284951:p.Phe488Val		13794103	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	A	12.52	1.961370	0.34565	.	.	ENSG00000101251	ENST00000284951	T	0.50813	0.73	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000022	T	0.30479	0.0766	N	0.22421	0.69	0.34939	D	0.750108	P	0.48230	0.907	B	0.40782	0.34	T	0.37150	-0.9718	10	0.15499	T	0.54	-15.6573	9.5349	0.39216	0.8431:0.0:0.0:0.1569	.	488	Q5TEA6	SE1L2_HUMAN	V	488	ENSP00000284951:F488V	ENSP00000284951:F488V	F	-	1	0	SEL1L2	13794103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.048000	0.30379	2.239000	0.73571	0.533000	0.62120	TTT		0.408	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
KIF16B	55614	broad.mit.edu	37	20	16360665	16360665	+	Missense_Mutation	SNP	C	C	T	rs368432617		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:16360665C>T	ENST00000354981.2	-	19	2139	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	KIF16B_ENST00000408042.1_Missense_Mutation_p.R661H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R661H|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	661	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.R661H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTGGAAGCTGCGGCGTTTGAG	0.537																																					p.R661H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1982A	20						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	139.0	125.0	130.0		1982,1982,1982	5.3	1.0	20		130	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	661/1267,661/1393,661/1318	16360665	2,13004	2203	4300	6503	16308665	SO:0001583	missense	55614	exon19			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1982G>A	20.37:g.16360665C>T	ENSP00000347076:p.Arg661His		16308665	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.487378|4.487378	0.84854|0.84854	0.0|0.0	2.33E-4|2.33E-4	ENSG00000089177|ENSG00000089177	ENST00000450176|ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.|T;T;T	.|0.18016	.|2.24;2.24;2.24	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38904|0.38904	0.1058|0.1058	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;D;D;P	.|0.68943	.|0.941;0.961;0.941;0.875	T|T	0.05305|0.05305	-1.0893|-1.0893	5|10	.|0.45353	.|T	.|0.12	.|.	13.5785|13.5785	0.61888|0.61888	0.0:0.9251:0.0:0.0749|0.0:0.9251:0.0:0.0749	.|.	.|661;661;661;661	.|Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.|.;.;.;KI16B_HUMAN	T|H	96|661	.|ENSP00000347076:R661H;ENSP00000347995:R661H;ENSP00000384164:R661H	.|ENSP00000347076:R661H	A|R	-|-	1|2	0|0	KIF16B|KIF16B	16308665|16308665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.862000|5.862000	0.69560|0.69560	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.537	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
SEC23B	10483	broad.mit.edu	37	20	18531786	18531786	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:18531786T>C	ENST00000336714.3	+	17	2391	c.1959T>C	c.(1957-1959)gaT>gaC	p.D653D	SEC23B_ENST00000262544.2_Silent_p.D653D|SEC23B_ENST00000377465.1_Silent_p.D653D|SEC23B_ENST00000377475.3_Silent_p.D653D	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	653					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.D653D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGCTGATGGATACTTTCTTTC	0.348																																					p.D653D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1959C	20						.						133.0	124.0	127.0					20																	18531786		2203	4300	6503	18479786	SO:0001819	synonymous_variant	10483	exon17			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1959T>C	20.37:g.18531786T>C			18479786	NM_032986	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	CCDS13137.1																																																																																				0.348	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
TGM3	7053	broad.mit.edu	37	20	2312650	2312650	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:2312650T>G	ENST00000381458.5	+	10	1399	c.1336T>G	c.(1336-1338)Tct>Gct	p.S446A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	446					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.S446A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCACACAGGCTCTGACCAGGA	0.532																																					p.S446A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1336G	20						.						77.0	71.0	73.0					20																	2312650		2203	4300	6503	2260650	SO:0001583	missense	7053	exon10			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1336T>G	20.37:g.2312650T>G	ENSP00000370867:p.Ser446Ala		2260650	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344198	0.41498	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.57595	0.39	5.3	5.3	0.74995	.	0.334108	0.32624	N	0.005851	T	0.64316	0.2587	M	0.92649	3.33	0.48185	D	0.999605	B	0.22211	0.066	B	0.26416	0.069	T	0.68977	-0.5267	10	0.87932	D	0	.	13.2379	0.59979	0.0:0.0:0.0:1.0	.	446	Q08188	TGM3_HUMAN	A	446	ENSP00000370867:S446A	ENSP00000370867:S446A	S	+	1	0	TGM3	2260650	0.999000	0.42202	0.994000	0.49952	0.343000	0.28985	3.119000	0.50422	2.225000	0.72522	0.533000	0.62120	TCT		0.532	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
RIN2	54453	broad.mit.edu	37	20	19972915	19972915	+	Silent	SNP	C	C	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:19972915C>G	ENST00000255006.6	+	10	2468	c.2319C>G	c.(2317-2319)ctC>ctG	p.L773L	RIN2_ENST00000440354.2_Silent_p.L291L|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	724					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.L724L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGATGGAGCTCCTAGACCCAT	0.418																																					p.L724L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2172G	20						.						82.0	75.0	77.0					20																	19972915		1947	4152	6099	19920915	SO:0001819	synonymous_variant	54453	exon9			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2319C>G	20.37:g.19972915C>G			19920915	NM_018993	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	CCDS56182.1																																																																																				0.418	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1		
GZF1	64412	broad.mit.edu	37	20	23345740	23345740	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:23345740T>C	ENST00000338121.5	+	2	797	c.720T>C	c.(718-720)taT>taC	p.Y240Y	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Silent_p.Y240Y|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	240					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.Y240Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAAAGAAATATACGAGAAGAC	0.527																																					p.Y240Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T720C	20						.						42.0	49.0	47.0					20																	23345740		2203	4300	6503	23293740	SO:0001819	synonymous_variant	64412	exon1			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.720T>C	20.37:g.23345740T>C			23293740	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	CCDS13151.1																																																																																				0.527	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482	
BPIFB4	149954	broad.mit.edu	37	20	31671374	31671374	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:31671374G>T	ENST00000375483.3	+	3	371	c.371G>T	c.(370-372)cGc>cTc	p.R124L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	124						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.R85L(1)									AGTGGCTATCGCAGTGCCGAG	0.597																																					p.R124L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371T	20						.						67.0	62.0	63.0					20																	31671374		2203	4300	6503	31135035	SO:0001583	missense	149954	exon3			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.371G>T	20.37:g.31671374G>T	ENSP00000364632:p.Arg124Leu		31135035	NM_182519	Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125773	0.20959	.	.	ENSG00000186191	ENST00000375483	T	0.01185	5.21	2.72	1.76	0.24704	.	0.699661	0.11783	N	0.530008	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.27166	0.17	B	0.21151	0.033	T	0.47898	-0.9081	10	0.87932	D	0	-2.6559	5.486	0.16749	0.1594:0.0:0.8406:0.0	.	124	P59827	BPIB4_HUMAN	L	124	ENSP00000364632:R124L	ENSP00000364632:R124L	R	+	2	0	BPIFB4	31135035	0.012000	0.17670	0.075000	0.20258	0.011000	0.07611	0.970000	0.29383	0.702000	0.31825	0.462000	0.41574	CGC		0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	
AHCY	191	broad.mit.edu	37	20	32878581	32878581	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:32878581A>G	ENST00000217426.2	-	6	799	c.722T>C	c.(721-723)aTc>aCc	p.I241T	AHCY_ENST00000468908.1_5'Flank|AHCY_ENST00000538132.1_Missense_Mutation_p.I213T	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	241					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)	p.I241T(1)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AATCTCGGTGATGATGACGCG	0.627																																					p.I241T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T722C	20						.						105.0	100.0	102.0					20																	32878581		2203	4300	6503	32342242	SO:0001583	missense	191	exon6			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.722T>C	20.37:g.32878581A>G	ENSP00000217426:p.Ile241Thr		32342242	NM_000687	A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300008	0.81136	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.79653	-1.29;-1.29	4.49	4.49	0.54785	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.108012	0.64402	D	0.000005	D	0.91549	0.7331	H	0.94925	3.6	0.58432	D	0.999999	P	0.47910	0.902	P	0.62089	0.898	D	0.93740	0.7049	10	0.87932	D	0	.	14.2417	0.65961	1.0:0.0:0.0:0.0	.	241	P23526	SAHH_HUMAN	T	241;213	ENSP00000217426:I241T;ENSP00000442820:I213T	ENSP00000217426:I241T	I	-	2	0	AHCY	32342242	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	8.990000	0.93510	2.025000	0.59659	0.454000	0.30748	ATC		0.627	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687	
NCOA6	23054	broad.mit.edu	37	20	33303157	33303157	+	Missense_Mutation	SNP	G	G	A	rs367600298		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:33303157G>A	ENST00000374796.2	-	16	8731	c.6161C>T	c.(6160-6162)gCg>gTg	p.A2054V	NCOA6_ENST00000593786.1_5'Flank|NCOA6_ENST00000359003.2_Missense_Mutation_p.A2054V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2054	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.A2054V(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGATTGCACCGCACTGGTTAT	0.448																																					p.A2054V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6161T	20						.	G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	209.0	188.0	195.0		3182,6161	2.6	0.9	20		195	0,8600		0,0,4300	no	missense,missense	NCOA6	NM_001242539.1,NM_014071.3	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1061/1071,2054/2064	33303157	1,13005	2203	4300	6503	32766818	SO:0001583	missense	23054	exon15			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.6161C>T	20.37:g.33303157G>A	ENSP00000363929:p.Ala2054Val		32766818	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800567	0.50315	2.27E-4	0.0	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24350	1.86;1.86	6.02	2.64	0.31445	.	0.199040	0.35179	N	0.003399	T	0.12987	0.0315	N	0.19112	0.55	0.34419	D	0.69722	B	0.12630	0.006	B	0.10450	0.005	T	0.25328	-1.0135	10	0.02654	T	1	-0.0035	11.2847	0.49216	0.2265:0.0:0.7735:0.0	.	2054	Q14686	NCOA6_HUMAN	V	2054	ENSP00000363929:A2054V;ENSP00000351894:A2054V	ENSP00000351894:A2054V	A	-	2	0	NCOA6	32766818	0.958000	0.32768	0.889000	0.34880	0.981000	0.71138	1.002000	0.29796	0.901000	0.36495	-0.133000	0.14855	GCG		0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NCOA6	23054	broad.mit.edu	37	20	33315204	33315204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:33315204G>A	ENST00000374796.2	-	15	8577	c.6007C>T	c.(6007-6009)Ccc>Tcc	p.P2003S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P2003S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2003	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P2003S(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATCTCTTTGGGCTCACTGCTG	0.468																																					p.P2003S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6007T	20						.						107.0	100.0	102.0					20																	33315204		2203	4300	6503	32778865	SO:0001583	missense	23054	exon14			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.6007C>T	20.37:g.33315204G>A	ENSP00000363929:p.Pro2003Ser		32778865	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158406	0.78114	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23950	1.88;1.88	4.88	4.88	0.63580	.	0.099877	0.45126	D	0.000398	T	0.17280	0.0415	N	0.19112	0.55	0.58432	D	0.99999	P	0.37061	0.58	B	0.35114	0.196	T	0.04090	-1.0978	10	0.62326	D	0.03	-6.0387	12.2634	0.54663	0.0:0.0:0.8306:0.1694	.	2003	Q14686	NCOA6_HUMAN	S	2003	ENSP00000363929:P2003S;ENSP00000351894:P2003S	ENSP00000351894:P2003S	P	-	1	0	NCOA6	32778865	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.657000	0.37366	2.537000	0.85549	0.561000	0.74099	CCC		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
CEP250	11190	broad.mit.edu	37	20	34055177	34055177	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:34055177G>A	ENST00000397527.1	+	9	1368	c.648G>A	c.(646-648)ctG>ctA	p.L216L	CEP250_ENST00000342580.4_Silent_p.L216L|CEP250_ENST00000397524.1_Silent_p.L216L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	216					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L216L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGGGTCTCTGTTGACCTGTT	0.552																																					p.L216L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	20						.						122.0	125.0	124.0					20																	34055177		2203	4300	6503	33518591	SO:0001819	synonymous_variant	11190	exon9			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.648G>A	20.37:g.34055177G>A			33518591	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																				0.552	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CDC25B	994	broad.mit.edu	37	20	3782677	3782677	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:3782677A>G	ENST00000245960.5	+	10	1725	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G	CDC25B_ENST00000439880.2_Missense_Mutation_p.D329G|CDC25B_ENST00000344256.6_Missense_Mutation_p.D279G|CDC25B_ENST00000379598.5_Missense_Mutation_p.D252G|CDC25B_ENST00000340833.4_Missense_Mutation_p.D302G|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	343					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.D364G(1)|p.D343G(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CAGGACAGGGACACGCCCGTG	0.642																																					p.D329G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A986G	20						.						26.0	23.0	24.0					20																	3782677		2198	4293	6491	3730677	SO:0001583	missense	994	exon10				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1028A>G	20.37:g.3782677A>G	ENSP00000245960:p.Asp343Gly		3730677	NM_004358	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501178	0.44455	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	4.62	4.62	0.57501	.	0.179439	0.46758	D	0.000262	T	0.47619	0.1455	M	0.70275	2.135	0.37175	D	0.903239	D;D;D;D;D;D	0.89917	0.987;0.987;0.987;0.984;0.984;1.0	P;P;P;P;P;D	0.83275	0.884;0.884;0.884;0.815;0.815;0.996	T	0.53844	-0.8381	10	0.36615	T	0.2	-11.1716	12.2705	0.54704	1.0:0.0:0.0:0.0	.	252;265;279;302;329;343	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	G	279;252;343;329;302	ENSP00000339125:D279G;ENSP00000368918:D252G;ENSP00000245960:D343G;ENSP00000405972:D329G;ENSP00000339170:D302G	ENSP00000245960:D343G	D	+	2	0	CDC25B	3730677	1.000000	0.71417	0.661000	0.29709	0.053000	0.15095	6.440000	0.73435	1.855000	0.53841	0.482000	0.46254	GAC		0.642	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874	
PPP1R16B	26051	broad.mit.edu	37	20	37546994	37546994	+	Silent	SNP	C	C	T	rs200253296		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:37546994C>T	ENST00000299824.1	+	11	1578	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	PPP1R16B_ENST00000373331.2_Silent_p.A421A	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	463					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.A463A(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGGCGTGGCCGACGCCACCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17558	0.001		0.0	False		,,,				2504	0.0				p.A421A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1263T	20						.	C	,	1,4405	2.1+/-5.4	0,1,2202	89.0	84.0	86.0		1263,1389	-9.8	0.0	20		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PPP1R16B	NM_001172735.1,NM_015568.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	421/526,463/568	37546994	2,13004	2203	4300	6503	36980408	SO:0001819	synonymous_variant	26051	exon10			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1389C>T	20.37:g.37546994C>T			36980408	NM_001172735	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	CCDS13309.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.363	-0.588316	0.03799	2.27E-4	1.16E-4	ENSG00000101445	ENST00000438192	.	.	.	4.9	-9.8	0.00490	.	.	.	.	.	T	0.36690	0.0976	.	.	.	0.19775	N	0.999953	.	.	.	.	.	.	T	0.48514	-0.9029	4	.	.	.	.	13.884	0.63698	0.1403:0.6291:0.0:0.2306	.	.	.	.	L	364	.	.	P	+	2	0	PPP1R16B	36980408	0.000000	0.05858	0.004000	0.12327	0.338000	0.28826	-4.017000	0.00312	-3.428000	0.00165	-1.851000	0.00568	CCG		0.647	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
CHD6	84181	broad.mit.edu	37	20	40112130	40112130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:40112130G>A	ENST00000373233.3	-	16	2464	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	763					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.R763*(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)				TGGGTTTTTCGGAAATCTTCT	0.433																																					p.R763X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2287T	20						.						56.0	53.0	54.0					20																	40112130		2203	4300	6503	39545544	SO:0001587	stop_gained	84181	exon16			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.2287C>T	20.37:g.40112130G>A	ENSP00000362330:p.Arg763*		39545544	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	42	9.360540	0.99148	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.76	3.72	0.42706	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5861	13.8701	0.63612	0.0:0.0:0.5972:0.4027	.	.	.	.	X	763	.	ENSP00000362330:R763X	R	-	1	2	CHD6	39545544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.295000	0.51794	0.812000	0.34326	0.655000	0.94253	CGA		0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
PTPRT	11122	broad.mit.edu	37	20	41100925	41100925	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:41100925C>A	ENST00000373187.1	-	8	1430	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	PTPRT_ENST00000373201.1_Silent_p.V477V|PTPRT_ENST00000373193.3_Silent_p.V477V|PTPRT_ENST00000373190.1_Silent_p.V477V|PTPRT_ENST00000373198.4_Silent_p.V477V|PTPRT_ENST00000373184.1_Silent_p.V477V|PTPRT_ENST00000356100.2_Silent_p.V477V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	477	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.V477V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTCTGCACCACCAGCTCCT	0.577																																					p.V477V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1431T	20						.						57.0	60.0	59.0					20																	41100925		2074	4196	6270	40534339	SO:0001819	synonymous_variant	11122	exon8			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1431G>T	20.37:g.41100925C>A			40534339	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
ZFP64	55734	broad.mit.edu	37	20	50769312	50769312	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:50769312C>T	ENST00000216923.4	-	6	1768	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	ZFP64_ENST00000346617.4_Silent_p.T419T|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.T471T	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	473					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.T473T(4)|p.L475fs*45(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGTGAGGGGCGTGGCGGGCT	0.602																																					p.T473T												.	.	6	Substitution - coding silent(4)|Deletion - Frameshift(2)	large_intestine(4)|ovary(2)	c.G1419A	20						.						53.0	46.0	48.0					20																	50769312		2201	4297	6498	50202719	SO:0001819	synonymous_variant	55734	exon6			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1419G>A	20.37:g.50769312C>T			50202719	NM_018197	Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	CCDS13440.1																																																																																				0.602	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
DOK5	55816	broad.mit.edu	37	20	53266996	53266996	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:53266996C>G	ENST00000262593.5	+	8	1249	c.899C>G	c.(898-900)cCa>cGa	p.P300R	DOK5_ENST00000395939.1_Missense_Mutation_p.P192R	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	300					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.P300R(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)			GAGACTTTTCCAGCCTACAGA	0.413																																					p.P300R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899G	20						.						91.0	77.0	82.0					20																	53266996		2203	4300	6503	52700403	SO:0001583	missense	55816	exon8			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.899C>G	20.37:g.53266996C>G	ENSP00000262593:p.Pro300Arg		52700403	NM_018431	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792450	0.70452	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.92495	-2.07;-3.05	5.79	5.79	0.91817	.	0.115351	0.64402	D	0.000014	D	0.92967	0.7762	N	0.19112	0.55	0.54753	D	0.999984	D;D	0.71674	0.986;0.998	P;D	0.76071	0.641;0.987	D	0.93338	0.6707	10	0.49607	T	0.09	-12.3996	19.0255	0.92930	0.0:1.0:0.0:0.0	.	192;300	Q9P104-2;Q9P104	.;DOK5_HUMAN	R	300;192	ENSP00000262593:P300R;ENSP00000379270:P192R	ENSP00000262593:P300R	P	+	2	0	DOK5	52700403	0.980000	0.34600	0.810000	0.32431	0.664000	0.39144	4.999000	0.63934	2.734000	0.93682	0.655000	0.94253	CCA		0.413	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2		
MC3R	4159	broad.mit.edu	37	20	54824343	54824343	+	Silent	SNP	C	C	T	rs147084433	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:54824343C>T	ENST00000243911.2	+	1	556	c.444C>T	c.(442-444)taC>taT	p.Y148Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	148					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.Y185Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCATCTTTTACGCGCTCCGCT	0.582																																					p.Y148Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	20						.	C		5,4401	9.9+/-24.2	0,5,2198	187.0	165.0	173.0		444	-0.9	1.0	20	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous	MC3R	NM_019888.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		148/324	54824343	5,13001	2203	4300	6503	54257750	SO:0001819	synonymous_variant	4159	exon1				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.444C>T	20.37:g.54824343C>T			54257750	NM_019888	Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	CCDS13449.2																																																																																				0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
FAM209A	200232	broad.mit.edu	37	20	55101079	55101079	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:55101079T>A	ENST00000371328.3	+	2	792	c.469T>A	c.(469-471)Tac>Aac	p.Y157N	GCNT7_ENST00000243913.4_5'Flank|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	157						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.Y157N(1)									TGCAGATCCATACCATGTCAC	0.438																																					p.Y157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T469A	20						.						112.0	105.0	107.0					20																	55101079		2203	4300	6503	54534486	SO:0001583	missense	200232	exon2			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.469T>A	20.37:g.55101079T>A	ENSP00000360379:p.Tyr157Asn		54534486	NM_001012971	Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	T	4.518	0.096210	0.08681	.	.	ENSG00000124103	ENST00000371328	T	0.08458	3.09	4.27	-0.411	0.12370	.	1.864860	0.02803	N	0.123400	T	0.06781	0.0173	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32666	-0.9898	10	0.06365	T	0.9	-0.4756	3.1694	0.06546	0.3558:0.4251:0.0:0.2191	.	157	Q5JX71	CT106_HUMAN	N	157	ENSP00000360379:Y157N	ENSP00000360379:Y157N	Y	+	1	0	C20orf106	54534486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.087000	0.14958	-0.414000	0.07495	-2.154000	0.00331	TAC		0.438	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2		
SPO11	23626	broad.mit.edu	37	20	55909832	55909832	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:55909832T>C	ENST00000371263.3	+	6	646	c.537T>C	c.(535-537)gcT>gcC	p.A179A	SPO11_ENST00000345868.4_Silent_p.A141A|SPO11_ENST00000371260.4_Silent_p.A141A	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	179					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.A179A(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GTTTAATTGCTGGCAACTTAA	0.358								Editing and processing nucleases																													p.A179A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T537C	20						.						110.0	106.0	108.0					20																	55909832		2203	4300	6503	55343239	SO:0001819	synonymous_variant	23626	exon6			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.537T>C	20.37:g.55909832T>C			55343239	NM_012444	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	CCDS13456.1																																																																																				0.358	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444	
EDN3	1908	broad.mit.edu	37	20	57876677	57876677	+	Missense_Mutation	SNP	C	C	A	rs144937074		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:57876677C>A	ENST00000337938.2	+	2	651	c.265C>A	c.(265-267)Cct>Act	p.P89T	EDN3_ENST00000371025.3_Missense_Mutation_p.P89T|EDN3_ENST00000311585.7_Missense_Mutation_p.P89T|EDN3_ENST00000371028.2_Missense_Mutation_p.P89T|EDN3_ENST00000395654.3_Missense_Mutation_p.P89T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	89					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P89T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGAGGGGGCCCCTGAGCACCA	0.642																																					p.P89T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265A	20						.						89.0	81.0	84.0					20																	57876677		2203	4299	6502	57310072	SO:0001583	missense	1908	exon2			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.265C>A	20.37:g.57876677C>A	ENSP00000337128:p.Pro89Thr		57310072	NM_207033	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834409	0.50951	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	4.05	2.04	0.26737	.	0.597438	0.15232	N	0.273362	D	0.86814	0.6023	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.69078	0.997;0.995;0.988;0.965	P;P;P;P	0.59487	0.846;0.858;0.718;0.703	T	0.75230	-0.3391	10	0.39692	T	0.17	-2.5717	5.6262	0.17485	0.0:0.6886:0.2005:0.1109	.	89;89;89;89	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	T	89	ENSP00000337128:P89T;ENSP00000311854:P89T;ENSP00000360067:P89T;ENSP00000360064:P89T;ENSP00000379015:P89T	ENSP00000311854:P89T	P	+	1	0	EDN3	57310072	0.000000	0.05858	0.006000	0.13384	0.074000	0.17049	0.878000	0.28126	0.464000	0.27142	0.462000	0.41574	CCT		0.642	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114	
YTHDF1	54915	broad.mit.edu	37	20	61833789	61833789	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:61833789C>T	ENST00000370339.3	-	4	1844	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.P451P	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	501	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.P501P(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AGTTTGTGACCGGTTTGTTGT	0.483																																					p.P501P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1503A	20						.						157.0	130.0	139.0					20																	61833789		2203	4300	6503	61304234	SO:0001819	synonymous_variant	54915	exon4			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1503G>A	20.37:g.61833789C>T			61304234	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	CCDS13511.1																																																																																				0.483	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	
ZBTB46	140685	broad.mit.edu	37	20	62421801	62421801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:62421801C>T	ENST00000245663.4	-	2	460	c.310G>A	c.(310-312)Gag>Aag	p.E104K	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.E104K|ZBTB46_ENST00000302995.2_Missense_Mutation_p.E104K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	104					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E104K(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GACATCACCTCGATGACGTTC	0.607																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	20						.						56.0	46.0	50.0					20																	62421801		2203	4300	6503	61892245	SO:0001583	missense	140685	exon2			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.310G>A	20.37:g.62421801C>T	ENSP00000245663:p.Glu104Lys		61892245	NM_025224	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	35	5.514665	0.96402	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.71934	-0.61;-0.61;-0.61	5.82	5.82	0.92795	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83528	0.0089	10	0.51188	T	0.08	.	19.0775	0.93168	0.0:1.0:0.0:0.0	.	104	Q86UZ6	ZBT46_HUMAN	K	104	ENSP00000245663:E104K;ENSP00000303102:E104K;ENSP00000378536:E104K	ENSP00000245663:E104K	E	-	1	0	ZBTB46	61892245	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.708000	0.84633	2.761000	0.94854	0.655000	0.94253	GAG		0.607	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
PLCB1	23236	broad.mit.edu	37	20	8717754	8717754	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:8717754C>T	ENST00000338037.6	+	20	2150	c.2123C>T	c.(2122-2124)aCa>aTa	p.T708I	PLCB1_ENST00000378641.3_Missense_Mutation_p.T708I|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.T708I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	708	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.T708I(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTGTGGATACAAGGAGGAAG	0.378																																					p.T708I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2123T	20						.						135.0	127.0	130.0					20																	8717754		2203	4300	6503	8665754	SO:0001583	missense	23236	exon20			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2123C>T	20.37:g.8717754C>T	ENSP00000338185:p.Thr708Ile		8665754	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617455	0.87359	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.938;1.0	T	0.24368	-1.0162	10	0.49607	T	0.09	.	19.6011	0.95561	0.0:1.0:0.0:0.0	.	708;708	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	708;708;708;628;628;54;27	ENSP00000367908:T708I;ENSP00000338185:T708I;ENSP00000367904:T708I;ENSP00000391162:T27I	ENSP00000338185:T708I	T	+	2	0	PLCB1	8665754	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.776000	0.85560	2.703000	0.92315	0.557000	0.71058	ACA		0.378	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
CD93	22918	broad.mit.edu	37	20	23066469	23066469	+	Frame_Shift_Del	DEL	C	C	-	rs377356934		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:23066469delC	ENST00000246006.4	-	1	508	c.361delG	c.(361-363)gagfs	p.E121fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	121	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.E121fs*79(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCGTGTCCTCCCCCCCGCCC	0.627																																					p.E121fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.361delG	20						.						17.0	20.0	19.0					20																	23066469		2198	4289	6487	23014469	SO:0001589	frameshift_variant	22918	exon1			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.361delG	20.37:g.23066469delC	ENSP00000246006:p.Glu121fs		23014469	NM_012072	O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	CCDS13149.1																																																																																				0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
ITCH	83737	broad.mit.edu	37	20	33059290	33059290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:33059290delA	ENST00000262650.6	+	17	1798	c.1662delA	c.(1660-1662)agafs	p.R554fs	ITCH_ENST00000535650.1_Frame_Shift_Del_p.R403fs|ITCH_ENST00000374864.4_Frame_Shift_Del_p.R513fs|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	554					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.T515fs*10(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAGTGACAAGAAAAACATTGT	0.393																																					p.R513fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1539delA	20						.						114.0	113.0	113.0					20																	33059290		2203	4300	6503	32522951	SO:0001589	frameshift_variant	83737	exon16			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1662delA	20.37:g.33059290delA	ENSP00000262650:p.Arg554fs		32522951	NM_031483	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Frame_Shift_Del	DEL	ENST00000262650.6	37	CCDS58768.1																																																																																				0.393	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		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)			GAAGGATGCCAAAAAAAAGGG	0.488																																					p.K689fs												.	.	3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)	c.2065delA	20						.						67.0	72.0	70.0					20																	47858504		2203	4300	6503	47291911	SO:0001589	frameshift_variant	55661	exon17			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.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs		47291911	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	CCDS13416.1																																																																																				0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
OPRL1	4987	broad.mit.edu	37	20	62729284	62729284	+	Silent	SNP	G	G	A	rs145759308	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr20:62729284G>A	ENST00000349451.3	+	5	775	c.363G>A	c.(361-363)gcG>gcA	p.A121A	OPRL1_ENST00000336866.2_Silent_p.A121A|OPRL1_ENST00000355631.4_Silent_p.A121A	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	121					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.A121A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGGGAATGCGCTGTGCAAGA	0.552													C|||	7	0.00139776	0.0008	0.0	5008	,	,		20663	0.0		0.001	False		,,,				2504	0.0051				p.A121A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G363A	20						.	G	,,	4,4402	9.9+/-24.2	0,4,2199	194.0	165.0	174.0		363,363,363	-9.3	0.7	20	dbSNP_134	174	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	,,	121/371,121/371,121/371	62729284	6,13000	2203	4300	6503	62199728	SO:0001819	synonymous_variant	4987	exon4				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.363G>A	20.37:g.62729284G>A			62199728	NM_182647	Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1																																																																																				0.552	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647	
CCT8	10694	broad.mit.edu	37	21	30434482	30434482	+	Silent	SNP	G	G	A	rs148753136	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:30434482G>A	ENST00000286788.4	-	11	1385	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D	AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.D374D|CCT8_ENST00000540844.1_Silent_p.D320D	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	393					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.D393D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TAACACCATCGTCTACTGCCC	0.358													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		20489	0.0		0.0	False		,,,				2504	0.0				p.D393D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1179T	21						.	G		28,4378	33.5+/-64.1	0,28,2175	172.0	164.0	167.0		1179	1.3	1.0	21	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	CCT8	NM_006585.2		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		393/549	30434482	28,12978	2203	4300	6503	29356353	SO:0001819	synonymous_variant	10694	exon11			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1179C>T	21.37:g.30434482G>A			29356353	NM_006585	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	CCDS33528.1																																																																																				0.358	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1		
GRIK1	2897	broad.mit.edu	37	21	30961213	30961213	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:30961213C>T	ENST00000399907.1	-	11	1926	c.1515G>A	c.(1513-1515)ggG>ggA	p.G505G	GRIK1_ENST00000399914.1_Silent_p.G490G|GRIK1_ENST00000327783.4_Silent_p.G505G|GRIK1_ENST00000399913.1_Silent_p.G505G|GRIK1_ENST00000399909.1_Silent_p.G490G|GRIK1_ENST00000535441.1_Silent_p.G507G|GRIK1_ENST00000309434.7_Silent_p.G507G|GRIK1_ENST00000389125.3_Silent_p.G490G|GRIK1_ENST00000389124.2_Silent_p.G505G	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	505					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G490G(1)|p.G505G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CATTCTGGGCCCCATATTTGC	0.373																																					p.G490G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1470A	21						.						158.0	153.0	155.0					21																	30961213		2203	4300	6503	29883084	SO:0001819	synonymous_variant	2897	exon10				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1515G>A	21.37:g.30961213C>T			29883084	NM_175611	Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																				0.373	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
CLDN8	9073	broad.mit.edu	37	21	31588243	31588243	+	Start_Codon_SNP	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:31588243T>A	ENST00000399899.1	-	1	148	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	CLDN8_ENST00000286809.1_Start_Codon_SNP_p.M1L	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	1					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.M1L(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TGGGTTGCCATTATCCTCTGG	0.517																																					p.M1L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1T	21						.						60.0	53.0	55.0					21																	31588243		2203	4300	6503	30510114	SO:0001582	initiator_codon_variant	9073	exon1			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.1A>T	21.37:g.31588243T>A	ENSP00000382783:p.Met1Leu		30510114	NM_199328	D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964693	0.53507	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.89196	-2.48;-2.48	5.17	4.01	0.46588	.	0.307617	0.39341	N	0.001382	D	0.93812	0.8021	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.94023	0.7294	9	0.87932	D	0	.	12.3156	0.54955	0.0:0.0:0.1416:0.8584	.	1	P56748	CLD8_HUMAN	L	1	ENSP00000382783:M1L;ENSP00000286809:M1L	ENSP00000286809:M1L	M	-	1	0	CLDN8	30510114	0.947000	0.32204	0.465000	0.27155	0.286000	0.27126	2.232000	0.43018	1.072000	0.40860	0.528000	0.53228	ATG		0.517	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328	Missense_Mutation
SON	6651	broad.mit.edu	37	21	34924805	34924805	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:34924805C>T	ENST00000356577.4	+	3	3743	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.R1090W|SON_ENST00000381679.4_Missense_Mutation_p.R1090W|SON_ENST00000300278.4_Missense_Mutation_p.R1090W	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1090	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R1090W(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGGTGCTGACCGGTCTATGAT	0.478																																					p.R1090W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3268T	21						.						173.0	143.0	153.0					21																	34924805		2203	4300	6503	33846675	SO:0001583	missense	6651	exon3			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3268C>T	21.37:g.34924805C>T	ENSP00000348984:p.Arg1090Trp		33846675	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871037	0.51695	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	6.06	6.06	0.98353	.	0.000000	0.49916	D	0.000135	T	0.53286	0.1787	M	0.68593	2.085	0.35284	D	0.781606	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.999;0.999	T	0.64170	-0.6470	10	0.87932	D	0	.	12.9848	0.58586	0.1613:0.8387:0.0:0.0	.	1090;1090;771;1090;1090	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	W	1090	ENSP00000348984:R1090W;ENSP00000290239:R1090W;ENSP00000300278:R1090W;ENSP00000371095:R1090W	ENSP00000290239:R1090W	R	+	1	2	SON	33846675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.882000	0.98803	0.655000	0.94253	CGG		0.478	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
HLCS	3141	broad.mit.edu	37	21	38302697	38302697	+	Nonsense_Mutation	SNP	G	G	A	rs138844739	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:38302697G>A	ENST00000399120.1	-	6	2263	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	HLCS_ENST00000336648.4_Nonsense_Mutation_p.Q345*|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	345					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.Q345*(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)	TCTGGAGTTTGCACTATGTTG	0.433																																					p.Q345X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1033T	21						.						83.0	82.0	82.0					21																	38302697		2203	4300	6503	37224567	SO:0001587	stop_gained	3141	exon6				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.1033C>T	21.37:g.38302697G>A	ENSP00000382071:p.Gln345*		37224567	NM_000411	B2RAH1|D3DSG6|Q99451	Nonsense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	49	15.560341	0.99838	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	.	.	.	5.22	5.22	0.72569	.	0.490245	0.21729	N	0.070000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	10.3902	0.44164	0.0:0.1446:0.7059:0.1495	.	.	.	.	X	345	.	ENSP00000338387:Q345X	Q	-	1	0	HLCS	37224567	0.797000	0.28877	0.077000	0.20336	0.441000	0.31987	3.420000	0.52735	2.591000	0.87537	0.650000	0.86243	CAA		0.433	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		
DSCAM	1826	broad.mit.edu	37	21	41719796	41719796	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:41719796C>T	ENST00000400454.1	-	6	1488	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	337	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V337V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGTTCCTGTCACGCTGCAGG	0.498																																					p.V337V	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1011A	21						.						141.0	127.0	131.0					21																	41719796		1952	4163	6115	40641666	SO:0001819	synonymous_variant	1826	exon6			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1011G>A	21.37:g.41719796C>T			40641666	NM_001389	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
MX1	4599	broad.mit.edu	37	21	42823134	42823134	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:42823134T>A	ENST00000398600.2	+	17	2498	c.1473T>A	c.(1471-1473)aaT>aaA	p.N491K	MX1_ENST00000288383.6_Missense_Mutation_p.N468K|MX1_ENST00000398598.3_Missense_Mutation_p.N491K|MX1_ENST00000455164.2_Missense_Mutation_p.N491K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	491	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N491K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CGATAAAAAATTTTGAAGAGT	0.313																																					p.N491K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1473A	21						.						158.0	182.0	174.0					21																	42823134		2203	4300	6503	41745004	SO:0001583	missense	4599	exon17				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1473T>A	21.37:g.42823134T>A	ENSP00000381601:p.Asn491Lys		41745004	NM_001144925	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849738	0.32699	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.45	-0.53	0.11898	Dynamin central domain (1);	0.363733	0.33457	N	0.004885	T	0.76666	0.4019	M	0.78916	2.43	0.21950	N	0.999458	D	0.53885	0.963	P	0.60173	0.87	T	0.66921	-0.5801	10	0.34782	T	0.22	-22.708	7.8884	0.29663	0.0:0.3253:0.0:0.6747	.	491	P20591	MX1_HUMAN	K	491;491;491;468	ENSP00000381601:N491K;ENSP00000381599:N491K;ENSP00000410523:N491K;ENSP00000288383:N468K	ENSP00000288383:N468K	N	+	3	2	MX1	41745004	0.500000	0.26091	0.003000	0.11579	0.022000	0.10575	0.015000	0.13355	-0.181000	0.10619	0.533000	0.62120	AAT		0.313	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		
AGPAT3	56894	broad.mit.edu	37	21	45400968	45400968	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:45400968G>T	ENST00000398063.2	+	8	1434	c.942G>T	c.(940-942)tgG>tgT	p.W314C	AGPAT3_ENST00000291572.8_Missense_Mutation_p.W314C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.W314C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.W314C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.W314C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.W314C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	314					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.W314C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGTCCTGGGCCACCATTC	0.562																																					p.W314C	Pancreas(60;623 1650 5574 52796)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G942T	21						.						122.0	111.0	115.0					21																	45400968		2203	4300	6503	44225396	SO:0001583	missense	56894	exon9			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.942G>T	21.37:g.45400968G>T	ENSP00000381140:p.Trp314Cys		44225396	NM_020132	D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843595	0.71488	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91792	0.5444	10	0.87932	D	0	-17.868	18.1548	0.89687	0.0:0.0:1.0:0.0	.	334;314	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	314	ENSP00000291572:W314C;ENSP00000381138:W314C;ENSP00000332989:W314C;ENSP00000381140:W314C;ENSP00000381135:W314C;ENSP00000443510:W314C	ENSP00000291572:W314C	W	+	3	0	AGPAT3	44225396	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	9.150000	0.94667	2.286000	0.76751	0.467000	0.42956	TGG		0.562	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132	
PWP2	5822	broad.mit.edu	37	21	45534115	45534115	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:45534115C>T	ENST00000291576.7	+	4	409	c.282C>T	c.(280-282)caC>caT	p.H94H		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	94					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.H94H(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACCACTTCCACTTCAAGGGCT	0.667											OREG0026247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H94H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	21						.						128.0	108.0	115.0					21																	45534115		2203	4300	6503	44358543	SO:0001819	synonymous_variant	5822	exon4				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.282C>T	21.37:g.45534115C>T		932	44358543	NM_005049	B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	CCDS33579.1																																																																																				0.667	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049	
ITGB2	3689	broad.mit.edu	37	21	46321573	46321573	+	Missense_Mutation	SNP	G	G	T	rs375117940		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:46321573G>T	ENST00000397850.2	-	7	1027	c.575C>A	c.(574-576)cCc>cAc	p.P192H	ITGB2_ENST00000302347.5_Missense_Mutation_p.P192H|ITGB2_ENST00000397854.3_Missense_Mutation_p.P135H|ITGB2_ENST00000397857.1_Missense_Mutation_p.P192H|ITGB2_ENST00000397852.1_Missense_Mutation_p.P192H|ITGB2_ENST00000355153.4_Missense_Mutation_p.P192H			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	192	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.P192H(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTCCTTGTTGGGGCATGGGTT	0.602																																					p.P192H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575A	21						.						151.0	135.0	141.0					21																	46321573		2203	4300	6503	45146001	SO:0001583	missense	3689	exon6			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.575C>A	21.37:g.46321573G>T	ENSP00000380948:p.Pro192His		45146001	NM_001127491	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264120	0.39995	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.14	4.14	0.48551	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.98157	0.9391	M	0.84219	2.685	0.45837	D	0.998706	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.932	D	0.97959	1.0336	9	0.40728	T	0.16	.	13.9474	0.64094	0.0:0.0:1.0:0.0	.	135;192	A8MYE6;P05107	.;ITB2_HUMAN	H	192;192;135;192;192;192;135;183	ENSP00000380950:P192H;ENSP00000380955:P192H;ENSP00000380952:P135H;ENSP00000347279:P192H;ENSP00000380948:P192H;ENSP00000303242:P192H;ENSP00000317697:P183H	ENSP00000303242:P192H	P	-	2	0	ITGB2	45146001	1.000000	0.71417	0.777000	0.31699	0.002000	0.02628	7.082000	0.76851	2.156000	0.67533	0.555000	0.69702	CCC		0.602	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
POFUT2	23275	broad.mit.edu	37	21	46687573	46687573	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:46687573C>A	ENST00000349485.5	-	8	1094	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Missense_Mutation_p.W356C	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	356					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.W356C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CCAGCTCCTCCCACGTGGGTT	0.552																																					p.W356C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1068T	21						.						193.0	181.0	185.0					21																	46687573		2203	4300	6503	45512001	SO:0001583	missense	23275	exon8			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1068G>T	21.37:g.46687573C>A	ENSP00000339613:p.Trp356Cys		45512001	NM_133635	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752971	0.49362	.	.	ENSG00000186866	ENST00000331343;ENST00000349485	T;T	0.29142	1.58;1.58	4.16	4.16	0.48862	.	0.179132	0.50627	D	0.000114	T	0.44307	0.1287	L	0.54323	1.7	0.80722	D	1	D;D	0.59357	0.985;0.967	P;P	0.57244	0.816;0.756	T	0.37842	-0.9688	10	0.46703	T	0.11	-21.795	14.3181	0.66465	0.0:1.0:0.0:0.0	.	356;356	Q9Y2G5-1;Q9Y2G5	.;OFUT2_HUMAN	C	356	ENSP00000329682:W356C;ENSP00000339613:W356C	ENSP00000329682:W356C	W	-	3	0	POFUT2	45512001	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.155000	0.58131	2.023000	0.59567	0.655000	0.94253	TGG		0.552	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227	
MCM3AP	8888	broad.mit.edu	37	21	47704539	47704539	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr21:47704539G>A	ENST00000397708.1	-	2	916	c.662C>T	c.(661-663)gCc>gTc	p.A221V	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397692.1_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A221V|YBEY_ENST00000397691.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	221	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.A221V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGGGGTAAAGGCAGATAATGA	0.383																																					p.A221V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C662T	21						.						80.0	85.0	83.0					21																	47704539		2203	4300	6503	46528967	SO:0001583	missense	8888	exon1			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.662C>T	21.37:g.47704539G>A	ENSP00000380820:p.Ala221Val		46528967	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.164075	0.21538	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18502	2.21;2.21	5.55	4.66	0.58398	.	0.337850	0.30068	N	0.010493	T	0.14356	0.0347	L	0.29908	0.895	0.31441	N	0.671972	B	0.23316	0.083	B	0.16722	0.016	T	0.04191	-1.0970	10	0.44086	T	0.13	-8.7572	14.6891	0.69070	0.0:0.0:0.8535:0.1465	.	221	O60318	MCM3A_HUMAN	V	221	ENSP00000380820:A221V;ENSP00000291688:A221V	ENSP00000291688:A221V	A	-	2	0	MCM3AP	46528967	0.949000	0.32298	0.852000	0.33557	0.130000	0.20726	2.237000	0.43061	1.321000	0.45227	-0.182000	0.12963	GCC		0.383	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
CCT8L2	150160	broad.mit.edu	37	22	17072521	17072521	+	Missense_Mutation	SNP	G	G	A	rs368696107		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:17072521G>A	ENST00000359963.3	-	1	1179	c.920C>T	c.(919-921)gCg>gTg	p.A307V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	307					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.A307V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATACTTGTCCGCCAGTGTGAG	0.527																																					p.A307V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C920T	22						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	191.0	169.0	176.0		920	2.0	0.0	22		176	0,8600		0,0,4300	no	missense	CCT8L2	NM_014406.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	307/558	17072521	1,13005	2203	4300	6503	15452521	SO:0001583	missense	150160	exon1			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.920C>T	22.37:g.17072521G>A	ENSP00000353048:p.Ala307Val		15452521	NM_014406	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	9.852	1.193941	0.22037	2.27E-4	0.0	ENSG00000198445	ENST00000359963	T	0.77750	-1.12	1.98	1.98	0.26296	.	0.000000	0.39210	U	0.001426	T	0.73329	0.3573	M	0.65498	2.005	0.09310	N	1	P	0.34757	0.467	B	0.37780	0.258	T	0.67780	-0.5582	10	0.72032	D	0.01	-14.5011	7.4423	0.27190	0.0:0.0:1.0:0.0	.	307	Q96SF2	TCPQM_HUMAN	V	307	ENSP00000353048:A307V	ENSP00000353048:A307V	A	-	2	0	CCT8L2	15452521	0.125000	0.22332	0.003000	0.11579	0.009000	0.06853	2.270000	0.43355	1.115000	0.41800	0.379000	0.24179	GCG		0.527	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
SLC25A18	83733	broad.mit.edu	37	22	18070835	18070835	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:18070835G>A	ENST00000327451.6	+	9	1258	c.720G>A	c.(718-720)acG>acA	p.T240T	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.T240T	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	240						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)	p.T240T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		TCGCAGTGACGCCTCTAGATG	0.507																																					p.T240T	Colon(118;1560 1625 18964 29606 50093)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	22						.						131.0	102.0	112.0					22																	18070835		2203	4300	6503	16450835	SO:0001819	synonymous_variant	83733	exon9			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.720G>A	22.37:g.18070835G>A			16450835	NM_031481		Silent	SNP	ENST00000327451.6	37	CCDS13744.1																																																																																				0.507	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481	
TSSK2	23617	broad.mit.edu	37	22	19119834	19119834	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:19119834G>A	ENST00000399635.2	+	1	1514	c.922G>A	c.(922-924)Gac>Aac	p.D308N	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	308					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D308N(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTTGAGGCCCGACCACCGGCC	0.637																																					p.D308N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922A	22						.						32.0	33.0	33.0					22																	19119834		2203	4299	6502	17499834	SO:0001583	missense	23617	exon1			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.922G>A	22.37:g.19119834G>A	ENSP00000382544:p.Asp308Asn		17499834	NM_053006	Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897154	0.17686	.	.	ENSG00000206203	ENST00000399635	T	0.70749	-0.51	5.46	5.46	0.80206	.	0.288098	0.24361	N	0.039191	T	0.52224	0.1721	N	0.14661	0.345	0.09310	N	0.999991	B	0.33748	0.423	B	0.23716	0.048	T	0.53479	-0.8433	10	0.49607	T	0.09	.	14.8217	0.70077	0.0:0.0:1.0:0.0	.	308	Q96PF2	TSSK2_HUMAN	N	308	ENSP00000382544:D308N	ENSP00000382544:D308N	D	+	1	0	TSSK2	17499834	0.995000	0.38212	0.575000	0.28536	0.124000	0.20399	3.409000	0.52657	2.573000	0.86826	0.655000	0.94253	GAC		0.637	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1		
PPM1F	9647	broad.mit.edu	37	22	22277564	22277564	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:22277564G>A	ENST00000263212.5	-	8	1371	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	PPM1F_ENST00000407142.1_Silent_p.G254G|PPM1F_ENST00000538191.1_Silent_p.G318G	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	422					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)	p.G422G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCTGGTTCCCGCCCTCCAGCA	0.667																																					p.G422G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1266T	22						.						49.0	57.0	54.0					22																	22277564		2203	4300	6503	20607564	SO:0001819	synonymous_variant	9647	exon8			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1266C>T	22.37:g.22277564G>A			20607564	NM_014634	A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	ENST00000263212.5	37	CCDS13796.1																																																																																				0.667	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634	
RGL4	266747	broad.mit.edu	37	22	24034527	24034527	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:24034527T>C	ENST00000290691.5	+	2	1355	c.185T>C	c.(184-186)aTc>aCc	p.I62T	AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_5'UTR|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	62					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I62T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ACCAGCACCATCACCTCCATT	0.572																																					p.I62T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T185C	22						.						218.0	211.0	214.0					22																	24034527		2203	4300	6503	22364527	SO:0001583	missense	266747	exon2				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.185T>C	22.37:g.24034527T>C	ENSP00000290691:p.Ile62Thr		22364527	NM_153615	Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.037619	0.00402	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.42513	1.18;0.97	1.43	-2.53	0.06326	.	1.368040	0.05053	N	0.478529	T	0.20981	0.0505	N	0.04880	-0.145	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16453	-1.0402	10	0.31617	T	0.26	.	7.018	0.24899	0.0:0.4228:0.0:0.5772	.	62;62	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	T	62	ENSP00000290691:I62T;ENSP00000402142:I62T	ENSP00000290691:I62T	I	+	2	0	RGL4	22364527	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.056000	0.30480	-1.219000	0.02597	-2.615000	0.00158	ATC		0.572	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615	
MMP11	4320	broad.mit.edu	37	22	24125719	24125719	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:24125719C>T	ENST00000215743.3	+	8	1507	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	AP000349.1_ENST00000598975.1_Missense_Mutation_p.V143I	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	485					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N485N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	AGCCTGCCAACACTTTCCTCT	0.597																																					p.N485N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455T	22						.						122.0	101.0	108.0					22																	24125719		2203	4300	6503	22455719	SO:0001819	synonymous_variant	4320	exon8				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1455C>T	22.37:g.24125719C>T			22455719	NM_005940	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	CCDS13816.1																																																																																				0.597	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940	
CABIN1	23523	broad.mit.edu	37	22	24460525	24460525	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:24460525T>C	ENST00000398319.2	+	15	2297	c.1912T>C	c.(1912-1914)Tat>Cat	p.Y638H	CABIN1_ENST00000263119.5_Missense_Mutation_p.Y638H|CABIN1_ENST00000405822.2_Missense_Mutation_p.Y588H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	638					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.Y638H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTGGAGAACTATGACATCTG	0.532																																					p.Y638H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1912C	22						.						227.0	214.0	218.0					22																	24460525		2203	4300	6503	22790525	SO:0001583	missense	23523	exon15			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1912T>C	22.37:g.24460525T>C	ENSP00000381364:p.Tyr638His		22790525	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.841684	0.91197	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	D;D;D	0.82984	-1.67;-1.67;-1.67	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);	0.114692	0.64402	D	0.000007	D	0.88514	0.6457	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.67548	0.952;0.897	D	0.89168	0.3535	10	0.62326	D	0.03	.	15.5188	0.75846	0.0:0.0:0.0:1.0	.	588;638	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	H	638;588;638	ENSP00000263119:Y638H;ENSP00000384694:Y588H;ENSP00000381364:Y638H	ENSP00000263119:Y638H	Y	+	1	0	CABIN1	22790525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.683000	0.84093	2.322000	0.78497	0.529000	0.55759	TAT		0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
SPECC1L	23384	broad.mit.edu	37	22	24717582	24717582	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:24717582C>A	ENST00000314328.9	+	5	919	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	SPECC1L_ENST00000541492.1_Missense_Mutation_p.Q212K|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.Q212K|SPECC1L_ENST00000437398.1_Missense_Mutation_p.Q212K|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	212					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.Q212K(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CATGCGTGCCCAGCTGGGCAT	0.448																																					p.Q212K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634A	22						.						87.0	90.0	89.0					22																	24717582		2203	4300	6503	23047582	SO:0001583	missense	23384	exon4			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.634C>A	22.37:g.24717582C>A	ENSP00000325785:p.Gln212Lys		23047582	NM_001145468	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272475	0.59649	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.57436	0.4;2.86;0.4;3.39;0.85	5.64	5.64	0.86602	.	0.053925	0.85682	D	0.000000	T	0.37919	0.1021	N	0.19112	0.55	0.80722	D	1	B;P	0.34724	0.111;0.465	B;B	0.36186	0.039;0.219	T	0.25710	-1.0124	10	0.02654	T	1	-20.0252	18.6833	0.91554	0.0:1.0:0.0:0.0	.	212;212	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	K	240;212;212;212;212;151	ENSP00000393363:Q212K;ENSP00000405671:Q212K;ENSP00000325785:Q212K;ENSP00000439633:Q212K;ENSP00000414354:Q151K	ENSP00000325785:Q212K	Q	+	1	0	SPECC1L	23047582	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.598000	0.82745	2.675000	0.91044	0.591000	0.81541	CAG		0.448	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330	
MYO18B	84700	broad.mit.edu	37	22	26423349	26423349	+	Missense_Mutation	SNP	G	G	A	rs75632091	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:26423349G>A	ENST00000407587.2	+	43	7581	c.7412G>A	c.(7411-7413)cGt>cAt	p.R2471H	MYO18B_ENST00000335473.7_Missense_Mutation_p.R2470H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2470H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2470						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2471H(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						GGTTCACAGCGTTCAAGCATC	0.547													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19645	0.0		0.0	False		,,,				2504	0.0				p.R2470H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7409A	22						.	G	HIS/ARG	3,4021		0,3,2009	92.0	95.0	94.0		7409	-10.3	0.0	22	dbSNP_132	94	0,8312		0,0,4156	no	missense	MYO18B	NM_032608.5	29	0,3,6165	AA,AG,GG		0.0,0.0746,0.0243	benign	2470/2568	26423349	3,12333	2012	4156	6168	24753349	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.7412G>A	22.37:g.26423349G>A	ENSP00000386096:p.Arg2471His		24753349	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	5.015|5.015	0.188507|0.188507	0.09547|0.09547	7.46E-4|7.46E-4	0.0|0.0	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.85773|.	-2.01;-2.01;-2.03|.	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|.	1.866520|.	0.02947|.	N|.	0.141215|.	T|T	0.07143|0.07143	0.0181|0.0181	N|N	0.01800|0.01800	-0.715|-0.715	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.06786|.	0.0;0.001;0.001;0.001;0.001|.	B;B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001;0.001|.	T|T	0.18871|0.18871	-1.0323|-1.0323	10|5	0.12430|.	T|.	0.62|.	.|.	3.6416|3.6416	0.08169|0.08169	0.2104:0.3225:0.3739:0.0932|0.2104:0.3225:0.3739:0.0932	.|.	1983;2472;2470;2471;2470|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	H|I	2470;2470;2471|420	ENSP00000441229:R2470H;ENSP00000334563:R2470H;ENSP00000386096:R2471H|.	ENSP00000334563:R2470H|.	R|V	+|+	2|1	0|0	MYO18B|MYO18B	24753349|24753349	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.197000|-0.197000	0.09518|0.09518	-1.527000|-1.527000	0.01758|0.01758	-0.258000|-0.258000	0.10820|0.10820	CGT|GTT		0.547	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEZ6L	23544	broad.mit.edu	37	22	26707793	26707793	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:26707793G>T	ENST00000248933.6	+	8	1836	c.1741G>T	c.(1741-1743)Gac>Tac	p.D581Y	SEZ6L_ENST00000402979.1_Missense_Mutation_p.D354Y|SEZ6L_ENST00000403121.1_Missense_Mutation_p.D354Y|SEZ6L_ENST00000529632.2_Missense_Mutation_p.D581Y|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D581Y|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D581Y|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D581Y			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	581	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.D581Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTACATCCGACCCGACCTA	0.552																																					p.D581Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1741T	22						.						216.0	205.0	209.0					22																	26707793		2203	4300	6503	25037793	SO:0001583	missense	23544	exon8			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1741G>T	22.37:g.26707793G>T	ENSP00000248933:p.Asp581Tyr		25037793	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411236	0.83340	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000013	D	0.83903	0.5355	M	0.92691	3.335	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.88137	0.2842	10	0.87932	D	0	.	17.0892	0.86618	0.0:0.0:1.0:0.0	.	581;581;354;581;581;581;581	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	Y	581;581;581;581;581;354;354	ENSP00000384772:D581Y;ENSP00000437037:D581Y;ENSP00000354185:D581Y;ENSP00000248933:D581Y;ENSP00000342661:D581Y;ENSP00000384838:D354Y;ENSP00000384733:D354Y	ENSP00000248933:D581Y	D	+	1	0	SEZ6L	25037793	1.000000	0.71417	0.922000	0.36590	0.948000	0.59901	9.085000	0.94083	2.498000	0.84270	0.563000	0.77884	GAC		0.552	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
TBC1D10A	83874	broad.mit.edu	37	22	30695511	30695511	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:30695511C>T	ENST00000215790.7	-	3	503	c.339G>A	c.(337-339)ccG>ccA	p.P113P	TBC1D10A_ENST00000490449.1_5'Flank|RP1-130H16.18_ENST00000447976.1_5'Flank|TBC1D10A_ENST00000403362.1_Silent_p.P25P|TBC1D10A_ENST00000403477.3_Silent_p.P120P	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	113	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.P113P(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCAGAGAAGGCGGGATGCCCT	0.577																																					p.P113P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	22						.						150.0	114.0	126.0					22																	30695511		2203	4300	6503	29025511	SO:0001819	synonymous_variant	83874	exon3			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.339G>A	22.37:g.30695511C>T			29025511	NM_031937	B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	CCDS13874.1																																																																																				0.577	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937	
PATZ1	23598	broad.mit.edu	37	22	31722935	31722935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:31722935G>A	ENST00000266269.5	-	5	2635	c.2006C>T	c.(2005-2007)gCg>gTg	p.A669V	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.A623V|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	669					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)	p.A669V(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TAAAGATGACGCAAATGCCGA	0.562																																					p.A623V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1868T	22						.						55.0	53.0	54.0					22																	31722935		2203	4300	6503	30052935	SO:0001583	missense	23598	exon4			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.2006C>T	22.37:g.31722935G>A	ENSP00000266269:p.Ala669Val		30052935	NM_032050	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488299	0.84854	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.21031	2.03;2.57	5.34	5.34	0.76211	.	0.130476	0.49916	D	0.000125	T	0.32852	0.0843	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.987;0.99	T	0.08806	-1.0704	10	0.41790	T	0.15	-3.6156	18.0231	0.89261	0.0:0.0:1.0:0.0	.	623;669	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	V	669;623	ENSP00000266269:A669V;ENSP00000337520:A623V	ENSP00000266269:A669V	A	-	2	0	PATZ1	30052935	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.158000	0.94723	2.498000	0.84270	0.585000	0.79938	GCG		0.562	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052	
EIF4ENIF1	56478	broad.mit.edu	37	22	31845416	31845416	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:31845416T>C	ENST00000397525.1	-	12	1909	c.1686A>G	c.(1684-1686)gcA>gcG	p.A562A	EIF4ENIF1_ENST00000397523.1_Silent_p.A538A|EIF4ENIF1_ENST00000330125.5_Silent_p.A562A|EIF4ENIF1_ENST00000344710.5_Silent_p.A387A|EIF4ENIF1_ENST00000382180.2_Silent_p.A217A	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	562						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.A562A(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						GAGGAGAGGGTGCTCTTTGGC	0.478																																					p.A562A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1686G	22						.						132.0	130.0	130.0					22																	31845416		2203	4300	6503	30175416	SO:0001819	synonymous_variant	56478	exon12			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.1686A>G	22.37:g.31845416T>C			30175416	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																				0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
SLC5A1	6523	broad.mit.edu	37	22	32506136	32506136	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:32506136T>C	ENST00000266088.4	+	15	2181	c.1931T>C	c.(1930-1932)gTg>gCg	p.V644A	SLC5A1_ENST00000543737.1_Missense_Mutation_p.V517A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	644					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.V644A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TGGAGGACAGTGTTGAACGTC	0.507																																					p.V644A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1931C	22						.						332.0	247.0	276.0					22																	32506136		2203	4300	6503	30836136	SO:0001583	missense	6523	exon15				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1931T>C	22.37:g.32506136T>C	ENSP00000266088:p.Val644Ala		30836136	NM_000343	B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962206	0.53400	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.90788	-2.42;-2.73	5.57	5.57	0.84162	.	0.316598	0.33496	N	0.004844	D	0.90628	0.7061	M	0.79343	2.45	0.27089	N	0.962904	B	0.24043	0.096	B	0.24269	0.052	D	0.85379	0.1118	10	0.72032	D	0.01	.	14.903	0.70696	0.0:0.0:0.0:1.0	.	644	P13866	SC5A1_HUMAN	A	644;517	ENSP00000266088:V644A;ENSP00000444898:V517A	ENSP00000266088:V644A	V	+	2	0	SLC5A1	30836136	1.000000	0.71417	0.005000	0.12908	0.928000	0.56348	7.860000	0.86993	2.116000	0.64780	0.528000	0.53228	GTG		0.507	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343	
SYN3	8224	broad.mit.edu	37	22	32909762	32909762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:32909762G>A	ENST00000358763.2	-	14	1902	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	SYN3_ENST00000332840.5_Missense_Mutation_p.R554C|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	554	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.R554C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGGTCCCACGCTGGGAGGTG	0.542																																					p.R553C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1657T	22						.						146.0	114.0	125.0					22																	32909762		2203	4300	6503	31239762	SO:0001583	missense	8224	exon14			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1660C>T	22.37:g.32909762G>A	ENSP00000351614:p.Arg554Cys		31239762	NM_001135774	B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004260	0.74932	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.43688	0.94;0.94	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.68317	2.08	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.49387	0.609;0.609	T	0.56938	-0.7896	10	0.72032	D	0.01	-2.703	15.911	0.79473	0.0:0.0:0.8644:0.1356	.	553;554	Q17R54;O14994	.;SYN3_HUMAN	C	554;554;160	ENSP00000351614:R554C;ENSP00000330219:R554C	ENSP00000330219:R554C	R	-	1	0	SYN3	31239762	1.000000	0.71417	0.959000	0.39883	0.552000	0.35366	7.594000	0.82698	2.698000	0.92095	0.561000	0.74099	CGT		0.542	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4		
HMOX1	3162	broad.mit.edu	37	22	35782985	35782985	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:35782985C>T	ENST00000216117.8	+	3	791	c.452C>T	c.(451-453)gCc>gTc	p.A151V		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	151					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.A151V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	AAAAAGATTGCCCAGAAAGCC	0.642																																					p.A151V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452T	22						.						43.0	49.0	47.0					22																	35782985		2202	4300	6502	34112985	SO:0001583	missense	3162	exon3				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.452C>T	22.37:g.35782985C>T	ENSP00000216117:p.Ala151Val		34112985	NM_002133		Missense_Mutation	SNP	ENST00000216117.8	37	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	C	35	5.581142	0.96565	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.21734	1.99;1.99	5.71	5.71	0.89125	Haem oxygenase-like, multi-helical (2);	0.048722	0.85682	D	0.000000	T	0.48259	0.1490	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.42899	-0.9424	10	0.87932	D	0	-20.0696	19.8408	0.96685	0.0:1.0:0.0:0.0	.	151	P09601	HMOX1_HUMAN	V	151	ENSP00000413316:A151V;ENSP00000216117:A151V	ENSP00000216117:A151V	A	+	2	0	HMOX1	34112985	1.000000	0.71417	0.620000	0.29132	0.984000	0.73092	7.724000	0.84798	2.699000	0.92147	0.655000	0.94253	GCC		0.642	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1		
CACNG2	10369	broad.mit.edu	37	22	36960731	36960731	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:36960731G>A	ENST00000300105.6	-	4	1620	c.639C>T	c.(637-639)cgC>cgT	p.R213R	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	213					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R213R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTCCGTGGCGCGGGCCGTGG	0.677																																					p.R213R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	22						.						78.0	93.0	88.0					22																	36960731		2203	4298	6501	35290677	SO:0001819	synonymous_variant	10369	exon4			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.639C>T	22.37:g.36960731G>A			35290677	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	CCDS13931.1																																																																																				0.677	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
SREBF2	6721	broad.mit.edu	37	22	42269955	42269955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:42269955C>T	ENST00000361204.4	+	5	1187	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	341	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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.R341*(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						CATTGAGAAACGATATCGCTC	0.478																																					p.R341X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1021T	22						.						105.0	84.0	91.0					22																	42269955		2203	4300	6503	40599901	SO:0001587	stop_gained	6721	exon5			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.1021C>T	22.37:g.42269955C>T	ENSP00000354476:p.Arg341*		40599901	NM_004599	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Nonsense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	39	7.890143	0.98545	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.9035	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	.	.	.	X	341	.	ENSP00000354476:R341X	R	+	1	2	SREBF2	40599901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.028000	0.49705	2.941000	0.99782	0.655000	0.94253	CGA		0.478	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
PNPLA3	80339	broad.mit.edu	37	22	44333116	44333116	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:44333116A>C	ENST00000216180.3	+	6	1116	c.943A>C	c.(943-945)Agc>Cgc	p.S315R	PNPLA3_ENST00000423180.2_Missense_Mutation_p.S311R	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	315					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.S315R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTGGGATGAGAGCATCCTGGA	0.597																																					p.S315R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A943C	22						.						91.0	73.0	79.0					22																	44333116		2203	4300	6503	42664449	SO:0001583	missense	80339	exon6				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.943A>C	22.37:g.44333116A>C	ENSP00000216180:p.Ser315Arg		42664449	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	A	2.420	-0.333275	0.05278	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.28895	1.59;1.6	5.08	-10.2	0.00374	.	1.543160	0.03271	N	0.184702	T	0.12689	0.0308	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10086	-1.0645	10	0.13853	T	0.58	-6.9526	8.6141	0.33820	0.3118:0.3463:0.3419:0.0	.	315	Q9NST1	PLPL3_HUMAN	R	315;311	ENSP00000216180:S315R;ENSP00000397987:S311R	ENSP00000216180:S315R	S	+	1	0	PNPLA3	42664449	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-1.326000	0.02685	-2.343000	0.00623	-0.609000	0.04063	AGC		0.597	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
FBLN1	2192	broad.mit.edu	37	22	45938048	45938048	+	Silent	SNP	C	C	T	rs138497040		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:45938048C>T	ENST00000327858.6	+	10	1175	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	FBLN1_ENST00000442170.2_Silent_p.C360C|FBLN1_ENST00000348697.2_Silent_p.C360C|FBLN1_ENST00000402984.3_Silent_p.C398C|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Silent_p.C360C|FBLN1_ENST00000340923.5_Silent_p.C360C	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	360	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.C360C(6)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGGACGAGTGCGCGCCACCTG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		21114	0.0		0.001	False		,,,				2504	0.0				p.C360C												.	.	6	Substitution - coding silent(6)	large_intestine(3)|endometrium(3)	c.C1080T	22						.	C	,,,	0,4406		0,0,2203	109.0	112.0	111.0		1080,1080,1080,1080	-4.3	0.0	22	dbSNP_134	111	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FBLN1	NM_001996.3,NM_006485.3,NM_006486.2,NM_006487.2	,,,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,,,	360/684,360/602,360/704,360/567	45938048	4,13002	2203	4300	6503	44316712	SO:0001819	synonymous_variant	2192	exon10				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1080C>T	22.37:g.45938048C>T			44316712	NM_006487	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																				0.507	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
RTCB	51493	broad.mit.edu	37	22	32794006	32794006	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:32794006delT	ENST00000216038.5	-	7	834	c.736delA	c.(736-738)atgfs	p.M246fs	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.M246fs*11(1)									TCGATGCCCATTTTTTTAGCA	0.463																																					p.M246fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.736delA	22						.						185.0	148.0	161.0					22																	32794006		2203	4300	6503	31124006	SO:0001589	frameshift_variant	51493	exon7			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.736delA	22.37:g.32794006delT	ENSP00000216038:p.Met246fs		31124006	NM_014306		Frame_Shift_Del	DEL	ENST00000216038.5	37	CCDS13905.1																																																																																				0.463	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306	
TOB2	10766	broad.mit.edu	37	22	41832766	41832766	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:41832766delC	ENST00000327492.3	-	2	1290	c.584delG	c.(583-585)ggcfs	p.G196fs		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	196					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G195fs*9(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TGCTGCCCCGCCCCCCTTCTT	0.657																																					p.G195fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.584delG	22						.						21.0	22.0	21.0					22																	41832766		2201	4294	6495	40162712	SO:0001589	frameshift_variant	10766	exon2			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.584delG	22.37:g.41832766delC	ENSP00000331305:p.Gly196fs		40162712	NM_016272	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Frame_Shift_Del	DEL	ENST00000327492.3	37	CCDS14015.1																																																																																				0.657	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272	
PPP6R2	9701	broad.mit.edu	37	22	50854577	50854577	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr22:50854577G>T	ENST00000216061.5	+	7	979	c.609G>T	c.(607-609)caG>caT	p.Q203H	PPP6R2_ENST00000359139.3_Missense_Mutation_p.Q203H|PPP6R2_ENST00000395744.3_Missense_Mutation_p.Q203H|PPP6R2_ENST00000395741.3_Missense_Mutation_p.Q203H			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	203						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.Q203H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACCCGAGCCAGGATGAAGATG	0.572																																					p.Q203H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G609T	22						.						120.0	100.0	107.0					22																	50854577		2203	4300	6503	49201443	SO:0001583	missense	9701	exon6			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.609G>T	22.37:g.50854577G>T	ENSP00000216061:p.Gln203His		49201443	NM_014678	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37		.	.	.	.	.	.	.	.	.	.	G	13.94	2.385792	0.42308	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.5	3.3	0.37823	.	0.203730	0.52532	D	0.000076	T	0.43211	0.1237	M	0.65975	2.015	0.48288	D	0.999621	P;P;B;P;B	0.51057	0.654;0.703;0.185;0.941;0.185	B;P;B;P;B	0.56823	0.426;0.663;0.187;0.807;0.187	T	0.25467	-1.0131	10	0.56958	D	0.05	-26.0909	7.1108	0.25388	0.2981:0.0:0.7019:0.0	.	203;203;203;203;203	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	H	203	ENSP00000352051:Q203H;ENSP00000379090:Q203H;ENSP00000379093:Q203H;ENSP00000216061:Q203H	ENSP00000216061:Q203H	Q	+	3	2	PPP6R2	49201443	1.000000	0.71417	0.968000	0.41197	0.165000	0.22458	2.825000	0.48096	0.592000	0.29728	0.455000	0.32223	CAG		0.572	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	
EMILIN1	11117	broad.mit.edu	37	2	27306250	27306251	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:27306250_27306251insC	ENST00000380320.4	+	4	2310_2311	c.1811_1812insC	c.(1810-1815)tgccccfs	p.CP604fs		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	604					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.L606fs*44(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGCTCCTGCCCCCTGTTGC	0.698																																					p.C604fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1811_1812insC	2						.																																			27159755	SO:0001589	frameshift_variant	11117	exon4			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1816dupC	2.37:g.27306255_27306255dupC	ENSP00000369677:p.Cys604fs		27159754	NM_007046	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Frame_Shift_Ins	INS	ENST00000380320.4	37	CCDS1733.1																																																																																				0.698	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046	
LRRTM4	80059	broad.mit.edu	37	2	77746437	77746438	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:77746437_77746438insA	ENST00000409093.1	-	3	893_894	c.557_558insT	c.(556-558)ttgfs	p.L186fs	LRRTM4_ENST00000409884.1_Frame_Shift_Ins_p.L186fs|LRRTM4_ENST00000409282.1_Frame_Shift_Ins_p.L187fs|LRRTM4_ENST00000409911.1_Frame_Shift_Ins_p.L187fs|LRRTM4_ENST00000409088.3_Frame_Shift_Ins_p.L186fs			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	186					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.L186fs*60(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AACCCAAATCCAAAAAATCAAG	0.421																																					p.L186fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.558_559insT	2						.																																			77599946	SO:0001589	frameshift_variant	80059	exon3			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.558dupT	2.37:g.77746443_77746443dupA	ENSP00000386357:p.Leu186fs		77599945	NM_024993	Q4FZ98|Q6UXJ7	Frame_Shift_Ins	INS	ENST00000409093.1	37	CCDS46346.1																																																																																				0.421	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
GPR113	165082	broad.mit.edu	37	2	26540362	26540363	+	Splice_Site	INS	-	-	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:26540362_26540363insC	ENST00000311519.1	-	3	358		c.e3+1		GPR113_ENST00000421160.2_Splice_Site|GPR113_ENST00000333478.6_Splice_Site|GPR113_ENST00000459892.1_Splice_Site|GPR113_ENST00000541401.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113						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.?(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATACACTCACCCCCTGCTCC	0.599																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.																																			26393867	SO:0001630	splice_region_variant	165082	.			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.358+1->G	2.37:g.26540367_26540367dupC			26393866	.	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Splice_Site	INS	ENST00000311519.1	37	CCDS46239.1																																																																																				0.599	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835	Intron
SLC9A4	389015	broad.mit.edu	37	2	103130573	103130573	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:103130573C>T	ENST00000295269.4	+	8	2041	c.1584C>T	c.(1582-1584)taC>taT	p.Y528Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	528					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.Y528Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATCATAGATACTTACGGAAAA	0.358																																					p.Y528Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1584T	2						.						110.0	110.0	110.0					2																	103130573		2203	4300	6503	102497005	SO:0001819	synonymous_variant	389015	exon8				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1584C>T	2.37:g.103130573C>T			102497005	NM_001011552	Q69YK0	Silent	SNP	ENST00000295269.4	37	CCDS33264.1																																																																																				0.358	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
ACOXL	55289	broad.mit.edu	37	2	111562876	111562876	+	Silent	SNP	G	G	A	rs139248421		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:111562876G>A	ENST00000389811.4	+	9	881	c.657G>A	c.(655-657)tcG>tcA	p.S219S	ACOXL_ENST00000439055.1_Silent_p.S219S|ACOXL_ENST00000340561.4_Silent_p.S219S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	219				S -> L (in Ref. 3; AAH22268). {ECO:0000305}.	fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.S219S(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTACCATTCGCCTATTAGGA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20797	0.0		0.001	False		,,,				2504	0.0				p.S219S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	2						.	G		2,4404	4.2+/-10.8	0,2,2201	152.0	137.0	142.0		657	-8.6	0.0	2	dbSNP_134	142	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous	ACOXL	NM_001142807.1		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		219/581	111562876	17,12989	2203	4300	6503	111279347	SO:0001819	synonymous_variant	55289	exon9				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.657G>A	2.37:g.111562876G>A			111279347	NM_001142807	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37																																																																																					0.493	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	
LPIN1	23175	broad.mit.edu	37	2	11955333	11955333	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:11955333T>C	ENST00000256720.2	+	17	2354	c.2261T>C	c.(2260-2262)cTg>cCg	p.L754P	LPIN1_ENST00000404113.2_Missense_Mutation_p.L255P|LPIN1_ENST00000449576.2_Missense_Mutation_p.L839P|LPIN1_ENST00000425416.2_Missense_Mutation_p.L760P|LPIN1_ENST00000396097.1_Missense_Mutation_p.L484P|LPIN1_ENST00000396099.1_Missense_Mutation_p.L796P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	754	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.L754P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCCCTGCTGCTGAGTCCCAGC	0.642																																					p.L754P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2261C	2						.						26.0	29.0	28.0					2																	11955333		2203	4300	6503	11872784	SO:0001583	missense	23175	exon17			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2261T>C	2.37:g.11955333T>C	ENSP00000256720:p.Leu754Pro		11872784	NM_145693	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659133	0.67586	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.071096	0.64402	D	0.000018	D	0.92838	0.7722	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.999	D	0.94511	0.7718	10	0.87932	D	0	-19.9946	14.6201	0.68579	0.0:0.0:0.0:1.0	.	255;839;754	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	P	839;796;760;754;484;255	ENSP00000397908:L839P;ENSP00000379406:L796P;ENSP00000401522:L760P;ENSP00000256720:L754P;ENSP00000379404:L484P;ENSP00000386120:L255P	ENSP00000256720:L754P	L	+	2	0	LPIN1	11872784	1.000000	0.71417	0.993000	0.49108	0.430000	0.31655	7.544000	0.82117	1.856000	0.53863	0.455000	0.32223	CTG		0.642	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
FOXD4L1	200350	broad.mit.edu	37	2	114257166	114257166	+	Silent	SNP	G	G	A	rs149561319		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:114257166G>A	ENST00000306507.5	+	1	506	c.333G>A	c.(331-333)tcG>tcA	p.S111S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	111					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S111S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCCCCTACTCGTACATCGCGC	0.652																																					p.S111S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G333A	2						.	G		1,4393		0,1,2196	33.0	45.0	41.0		333	-4.5	1.0	2	dbSNP_134	41	0,8544		0,0,4272	no	coding-synonymous	FOXD4L1	NM_012184.4		0,1,6468	AA,AG,GG		0.0,0.0228,0.0077		111/409	114257166	1,12937	2197	4272	6469	113973636	SO:0001819	synonymous_variant	200350	exon1			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.333G>A	2.37:g.114257166G>A			113973636	NM_012184	B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	CCDS2117.1																																																																																				0.652	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184	
SAP130	79595	broad.mit.edu	37	2	128707481	128707481	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:128707481T>C	ENST00000259235.3	-	17	2861	c.2732A>G	c.(2731-2733)tAc>tGc	p.Y911C	SAP130_ENST00000259234.6_Missense_Mutation_p.Y919C|SAP130_ENST00000357702.5_Missense_Mutation_p.Y946C	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	911	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.Y911C(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAGTGGTGGTAAGCAGCTTT	0.433																																					p.Y946C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2837G	2						.						92.0	80.0	84.0					2																	128707481		2203	4300	6503	128423951	SO:0001583	missense	79595	exon18			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2732A>G	2.37:g.128707481T>C	ENSP00000259235:p.Tyr911Cys		128423951	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.499692	0.85176	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	L	0.51422	1.61	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;0.998;0.997;0.997	T	0.77247	-0.2658	9	0.72032	D	0.01	-6.8745	15.5058	0.75739	0.0:0.0:0.0:1.0	.	946;911;476;548	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	C	946;911;919	.	ENSP00000259234:Y919C	Y	-	2	0	SAP130	128423951	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.514000	0.81750	2.073000	0.62155	0.379000	0.24179	TAC		0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	
NCKAP5	344148	broad.mit.edu	37	2	133542717	133542717	+	Missense_Mutation	SNP	G	G	A	rs201814216		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:133542717G>A	ENST00000409261.1	-	14	2040	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T556M	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	556								p.T556M(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TACCTGAGGCGTCTGCACACT	0.547																																					p.T556M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1667T	2						.	G	MET/THR,	3,3983		0,3,1990	88.0	89.0	89.0		1667,	-5.6	0.0	2		89	1,8325		0,1,4162	yes	missense,intron	NCKAP5	NM_207363.2,NM_207481.3	81,	0,4,6152	AA,AG,GG		0.012,0.0753,0.0325	benign,	556/1910,	133542717	4,12308	1993	4163	6156	133259187	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1667C>T	2.37:g.133542717G>A	ENSP00000387128:p.Thr556Met		133259187	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	0.267	-0.995656	0.02145	7.53E-4	1.2E-4	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.42900	0.96;0.96	4.54	-5.56	0.02529	.	3.475920	0.01679	U	0.026006	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15492	-1.0435	10	0.52906	T	0.07	.	3.6099	0.08057	0.5875:0.1081:0.1026:0.2018	.	556	O14513	NCKP5_HUMAN	M	556	ENSP00000387128:T556M;ENSP00000380603:T556M	ENSP00000380603:T556M	T	-	2	0	NCKAP5	133259187	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.831000	0.04405	-0.990000	0.03481	-0.719000	0.03609	ACG		0.547	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133543174	133543174	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:133543174C>A	ENST00000409261.1	-	14	1583	c.1210G>T	c.(1210-1212)Ggg>Tgg	p.G404W	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G404W	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	404								p.G404W(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTTAGCCCTTCCAAAATG	0.408																																					p.G404W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210T	2						.						103.0	94.0	97.0					2																	133543174		1852	4100	5952	133259644	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1210G>T	2.37:g.133543174C>A	ENSP00000387128:p.Gly404Trp		133259644	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064364	0.76187	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.46819	0.86;0.86	5.24	5.24	0.73138	.	0.000000	0.33792	U	0.004543	T	0.59824	0.2222	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62383	-0.6866	10	0.87932	D	0	.	17.1921	0.86882	0.0:1.0:0.0:0.0	.	404	O14513	NCKP5_HUMAN	W	404	ENSP00000387128:G404W;ENSP00000380603:G404W	ENSP00000380603:G404W	G	-	1	0	NCKAP5	133259644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.542000	0.73869	2.717000	0.92951	0.650000	0.86243	GGG		0.408	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
LRP1B	53353	broad.mit.edu	37	2	141055455	141055455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:141055455C>A	ENST00000389484.3	-	84	13860	c.12889G>T	c.(12889-12891)Gga>Tga	p.G4297*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4297	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4297*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCAGGTTCCTCCATTTTGA	0.498										TSP Lung(27;0.18)																											p.G4297X	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G12889T	2						.						140.0	144.0	142.0					2																	141055455		2203	4300	6503	140771925	SO:0001587	stop_gained	53353	exon84			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12889G>T	2.37:g.141055455C>A	ENSP00000374135:p.Gly4297*		140771925	NM_018557	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	58|58	32.080408|32.080408	0.99979|0.99979	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|.	0.82637|.	0.5080|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83154|.	-0.0102|.	3|.	.|0.87932	.|D	.|0	.|.	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	528;28|4297;4235	.|.	.|ENSP00000374135:G4297X	E|G	-|-	3|1	2|0	LRP1B|LRP1B	140771925|140771925	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.939000|0.939000	0.58152|0.58152	7.785000|7.785000	0.85724|0.85724	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.498	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
MBD5	55777	broad.mit.edu	37	2	149247620	149247620	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:149247620G>A	ENST00000407073.1	+	12	4717	c.3720G>A	c.(3718-3720)ctG>ctA	p.L1240L	MBD5_ENST00000404807.1_Silent_p.L1473L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1240					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.L1240L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCCATTTCTGCCTGGGGAAC	0.418																																					p.L1240L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3720A	2						.						83.0	78.0	80.0					2																	149247620		2203	4300	6503	148964090	SO:0001819	synonymous_variant	55777	exon12			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3720G>A	2.37:g.149247620G>A			148964090	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1																																																																																				0.418	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
NEB	4703	broad.mit.edu	37	2	152394412	152394412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:152394412G>A	ENST00000172853.10	-	112	16120	c.15973C>T	c.(15973-15975)Cga>Tga	p.R5325*	NEB_ENST00000427231.2_Nonsense_Mutation_p.R7026*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7026*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5325*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7026*|NEB_ENST00000397345.3_Nonsense_Mutation_p.R7026*			P20929	NEBU_HUMAN	nebulin	5325					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.R7026*(1)|p.R5325*(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)		GTGACTGCTCGGTGGTGGAAA	0.393																																					p.R7026X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C21076T	2						.						89.0	91.0	90.0					2																	152394412		1869	4108	5977	152102658	SO:0001587	stop_gained	4703	exon140			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.15973C>T	2.37:g.152394412G>A	ENSP00000172853:p.Arg5325*		152102658	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	57	28.079411	0.99973	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	.	.	.	5.63	4.73	0.59995	.	0.104145	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6807	0.77367	0.0:0.0:0.8618:0.1382	.	.	.	.	X	5325;7026;7026;1374;1756;5325;114	.	ENSP00000172853:R5325X	R	-	1	2	NEB	152102658	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.896000	0.63222	1.339000	0.45563	0.585000	0.79938	CGA		0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152541391	152541391	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:152541391G>A	ENST00000172853.10	-	28	2883	c.2736C>T	c.(2734-2736)gcC>gcT	p.A912A	NEB_ENST00000427231.2_Silent_p.A912A|NEB_ENST00000604864.1_Silent_p.A912A|NEB_ENST00000409198.1_Silent_p.A912A|NEB_ENST00000603639.1_Silent_p.A912A|NEB_ENST00000397345.3_Silent_p.A912A			P20929	NEBU_HUMAN	nebulin	912					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.A912A(2)		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)		CAACGTCGCTGGCAATTGCCT	0.448																																					p.A912A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2736T	2						.						121.0	117.0	118.0					2																	152541391		1921	4136	6057	152249637	SO:0001819	synonymous_variant	4703	exon28			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.2736C>T	2.37:g.152541391G>A			152249637	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NR4A2	4929	broad.mit.edu	37	2	157186157	157186157	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:157186157G>A	ENST00000339562.4	-	3	904	c.542C>T	c.(541-543)tCg>tTg	p.S181L	NR4A2_ENST00000426264.1_Missense_Mutation_p.S118L|NR4A2_ENST00000429376.1_Missense_Mutation_p.S118L|NR4A2_ENST00000409108.2_Missense_Mutation_p.S181L|NR4A2_ENST00000409572.1_Missense_Mutation_p.S181L|NR4A2_ENST00000539077.1_Missense_Mutation_p.S192L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	181	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S181L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCCAGGGGGCGATTGCTTAAA	0.627																																					p.S181L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C542T	2						.						87.0	105.0	99.0					2																	157186157		2203	4299	6502	156894403	SO:0001583	missense	4929	exon3			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.542C>T	2.37:g.157186157G>A	ENSP00000344479:p.Ser181Leu		156894403	NM_006186	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582428	0.86748	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077	D;D;D;D;D;D;D	0.94828	-3.06;-3.31;-3.06;-3.08;-3.35;-3.53;-1.81	5.88	5.88	0.94601	.	.	.	.	.	D	0.92622	0.7656	L	0.61218	1.895	0.80722	D	1	P	0.40553	0.721	B	0.30401	0.115	D	0.92411	0.5937	9	0.49607	T	0.09	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	181	P43354	NR4A2_HUMAN	L	181;118;181;192;181;118;181	ENSP00000344479:S181L;ENSP00000389986:S118L;ENSP00000386747:S181L;ENSP00000444925:S192L;ENSP00000386993:S181L;ENSP00000410952:S118L;ENSP00000406808:S181L	ENSP00000344479:S181L	S	-	2	0	NR4A2	156894403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.804000	0.99143	2.782000	0.95742	0.655000	0.94253	TCG		0.627	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		
ACVR1C	130399	broad.mit.edu	37	2	158400986	158400986	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:158400986T>G	ENST00000243349.8	-	5	1274	c.914A>C	c.(913-915)cAc>cCc	p.H305P	ACVR1C_ENST00000348328.5_Missense_Mutation_p.H148P|ACVR1C_ENST00000409680.3_Missense_Mutation_p.H255P|ACVR1C_ENST00000335450.7_Missense_Mutation_p.H225P	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.H305P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CATATGAAGGTGTGCCAGACC	0.363																																					p.H255P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A764C	2						.						102.0	100.0	101.0					2																	158400986		2203	4300	6503	158109232	SO:0001583	missense	130399	exon5			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.914A>C	2.37:g.158400986T>G	ENSP00000243349:p.His305Pro		158109232	NM_001111031		Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299093	0.81025	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000024	D	0.88358	0.6415	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.92599	0.6089	10	0.87932	D	0	.	14.8152	0.70028	0.0:0.0:0.0:1.0	.	148;225;305	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	P	305;255;148;225	ENSP00000243349:H305P;ENSP00000387168:H255P;ENSP00000335139:H148P;ENSP00000335178:H225P	ENSP00000243349:H305P	H	-	2	0	ACVR1C	158109232	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.054000	0.61138	0.482000	0.46254	CAC		0.363	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	
BAZ2B	29994	broad.mit.edu	37	2	160295604	160295604	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:160295604T>A	ENST00000392783.2	-	7	1311	c.816A>T	c.(814-816)gaA>gaT	p.E272D	BAZ2B_ENST00000343439.5_Missense_Mutation_p.E270D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E272D|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E270D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	272	Poly-Glu.				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.E272D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						cttcttcttcttcatcttctt	0.358																																					p.E272D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A816T	2						.						294.0	263.0	273.0					2																	160295604		1915	4130	6045	160003850	SO:0001583	missense	29994	exon7			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.816A>T	2.37:g.160295604T>A	ENSP00000376534:p.Glu272Asp		160003850	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422430	0.43020	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.25	1.56	0.23342	.	0.000000	0.37809	U	0.001938	T	0.09512	0.0234	L	0.35414	1.06	0.31091	N	0.71078	P;P;P;B;B;B	0.41393	0.518;0.748;0.748;0.27;0.27;0.176	B;B;B;B;B;B	0.39185	0.204;0.293;0.293;0.059;0.059;0.026	T	0.14392	-1.0474	10	0.33940	T	0.23	-16.0411	8.1815	0.31313	0.0:0.3071:0.0:0.6929	.	270;209;272;270;270;272	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	D	270;272;272;270;209	ENSP00000376533:E270D;ENSP00000376534:E272D;ENSP00000348087:E272D;ENSP00000339670:E270D	ENSP00000339670:E270D	E	-	3	2	BAZ2B	160003850	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	0.921000	0.28718	0.019000	0.15079	0.460000	0.39030	GAA		0.358	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
ITGB6	3694	broad.mit.edu	37	2	160994162	160994162	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:160994162G>A	ENST00000283249.2	-	10	1680	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C	ITGB6_ENST00000428609.2_Silent_p.C439C|ITGB6_ENST00000409872.1_Silent_p.C481C|ITGB6_ENST00000409967.2_Silent_p.C481C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	481	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.C481C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGCCAGGGTGGCAGGCACACA	0.592																																					p.C481C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1443T	2						.						67.0	50.0	56.0					2																	160994162		2203	4300	6503	160702408	SO:0001819	synonymous_variant	3694	exon10				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1443C>T	2.37:g.160994162G>A			160702408	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	CCDS2212.1																																																																																				0.592	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
KCNH7	90134	broad.mit.edu	37	2	163693269	163693269	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:163693269A>T	ENST00000332142.5	-	2	184	c.85T>A	c.(85-87)Ttt>Att	p.F29I	KCNH7_ENST00000328032.4_Missense_Mutation_p.F29I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	29					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F29I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCAATGATAAATTTTTTATCT	0.383																																					p.F29I	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T85A	2						.						42.0	40.0	40.0					2																	163693269		2203	4300	6503	163401515	SO:0001583	missense	90134	exon2			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.85T>A	2.37:g.163693269A>T	ENSP00000331727:p.Phe29Ile		163401515	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	31	5.105015	0.94245	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99769	-5.56;-6.7	6.08	6.08	0.98989	PAS (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	L	0.60012	1.86	0.53688	D	0.999972	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.991	D	0.97732	1.0203	10	0.87932	D	0	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	29;29	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	29	ENSP00000331727:F29I;ENSP00000333781:F29I	ENSP00000333781:F29I	F	-	1	0	KCNH7	163401515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	TTT		0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
COBLL1	22837	broad.mit.edu	37	2	165584577	165584577	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:165584577A>G	ENST00000392717.2	-	5	681	c.677T>C	c.(676-678)cTa>cCa	p.L226P	COBLL1_ENST00000194871.6_Missense_Mutation_p.L241P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L226P|COBLL1_ENST00000342193.4_Missense_Mutation_p.L188P|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Missense_Mutation_p.L188P			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	226						extracellular vesicular exosome (GO:0070062)		p.L188P(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTCAACAATAGTGTATGCAA	0.408																																					p.L188P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T563C	2						.						136.0	131.0	133.0					2																	165584577		2203	4300	6503	165292823	SO:0001583	missense	22837	exon4			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.677T>C	2.37:g.165584577A>G	ENSP00000376478:p.Leu226Pro		165292823	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	A	15.02	2.710589	0.48517	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	6.17	5.01	0.66863	Cordon-bleu domain (1);	0.546525	0.20023	N	0.100869	D	0.91723	0.7383	N	0.24115	0.695	0.31823	N	0.625711	D;P;D	0.63880	0.96;0.904;0.993	P;P;P	0.62089	0.819;0.819;0.898	D	0.91536	0.5246	10	0.54805	T	0.06	-0.0861	12.8967	0.58104	0.8781:0.0:0.0:0.1219	.	226;241;226	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	P	188;188;226;226;241;163	ENSP00000364607:L188P;ENSP00000341360:L188P;ENSP00000387326:L226P;ENSP00000376478:L226P;ENSP00000194871:L241P;ENSP00000397520:L163P	ENSP00000194871:L241P	L	-	2	0	COBLL1	165292823	0.572000	0.26668	0.262000	0.24481	0.028000	0.11728	5.372000	0.66156	1.132000	0.42129	0.533000	0.62120	CTA		0.408	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SCN7A	6332	broad.mit.edu	37	2	167301411	167301411	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:167301411T>C	ENST00000409855.1	-	12	1613	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	496					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.E496G(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)	ATGGACAAACTCTTTCAATTT	0.328																																					p.E496G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1487G	2						.						71.0	70.0	71.0					2																	167301411		1815	4084	5899	167009657	SO:0001583	missense	6332	exon12			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.1487A>G	2.37:g.167301411T>C	ENSP00000386796:p.Glu496Gly		167009657	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146735	0.37923	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.96913	-4.17;-4.16	5.43	5.43	0.79202	.	0.414443	0.20536	N	0.090420	D	0.94361	0.8187	M	0.70787	2.145	0.35822	D	0.824658	P	0.38922	0.651	B	0.30401	0.115	D	0.96412	0.9305	10	0.48119	T	0.1	.	13.4827	0.61345	0.0:0.0:0.0:1.0	.	496	Q01118	SCN7A_HUMAN	G	496	ENSP00000386796:E496G;ENSP00000413699:E496G	ENSP00000259060:E496G	E	-	2	0	SCN7A	167009657	0.071000	0.21146	0.790000	0.31976	0.529000	0.34654	2.686000	0.46968	2.277000	0.76020	0.528000	0.53228	GAG		0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
XIRP2	129446	broad.mit.edu	37	2	168103888	168103888	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:168103888A>G	ENST00000409195.1	+	9	6075	c.5986A>G	c.(5986-5988)Act>Gct	p.T1996A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1996A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1774A|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1821					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T1996A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGAGCAGATACTCTCAGTCA	0.453																																					p.T1774A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5320G	2						.						49.0	48.0	48.0					2																	168103888		1889	4118	6007	167812134	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5986A>G	2.37:g.168103888A>G	ENSP00000386840:p.Thr1996Ala		167812134	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.050933	0.00394	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02395	4.31;4.31;4.31	5.58	-10.7	0.00240	.	1.523580	0.03265	N	0.183783	T	0.01765	0.0056	L	0.34521	1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.45234	-0.9275	10	0.07644	T	0.81	0.1052	4.8114	0.13345	0.3218:0.1807:0.4091:0.0884	.	1821;1821;1774	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	1996;1996;1774	ENSP00000386840:T1996A;ENSP00000295237:T1996A;ENSP00000387255:T1774A	ENSP00000295237:T1996A	T	+	1	0	XIRP2	167812134	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.033000	0.12246	-1.852000	0.01166	-1.271000	0.01417	ACT		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
PRKRA	8575	broad.mit.edu	37	2	179296856	179296856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179296856G>A	ENST00000325748.4	-	8	1110	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	PRKRA_ENST00000487082.1_Nonsense_Mutation_p.Q279*|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000432031.2_Nonsense_Mutation_p.Q293*|PRKRA_ENST00000438687.3_Nonsense_Mutation_p.Q191*|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000450044.1_RNA|AC009948.5_ENST00000420672.1_RNA|AC009948.5_ENST00000415236.1_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	304	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q304*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TTTAAATACTGCAAAGCATTG	0.433																																					p.Q293X	Melanoma(200;68 3001 23825 48764)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C877T	2						.						98.0	100.0	99.0					2																	179296856		2203	4300	6503	179005102	SO:0001587	stop_gained	8575	exon7			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.910C>T	2.37:g.179296856G>A	ENSP00000318176:p.Gln304*		179005102	NM_001139517	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Nonsense_Mutation	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	G	39	7.408317	0.98265	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	.	.	.	X	304;191;279;293	.	ENSP00000318176:Q304X	Q	-	1	0	PRKRA	179005102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.652000	0.91083	2.501000	0.84356	0.467000	0.42956	CAG		0.433	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
TTN	7273	broad.mit.edu	37	2	179400069	179400069	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179400069T>C	ENST00000591111.1	-	308	96574	c.96350A>G	c.(96349-96351)tAc>tGc	p.Y32117C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y24818C|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y24885C|TTN_ENST00000460472.2_Missense_Mutation_p.Y24693C|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y33758C|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y31190C|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32117	Fibronectin type-III 132. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y24885C(1)|p.Y24693C(1)|p.Y31188C(1)|p.Y24818C(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)			CCGGAACTGGTAACTTGTTTT	0.418																																					p.T24693A												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A74077G	2						.						133.0	124.0	127.0					2																	179400069		1861	4113	5974	179108315	SO:0001583	missense	7273	exon186			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.96350A>G	2.37:g.179400069T>C	ENSP00000465570:p.Tyr32117Cys		179108315	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		.	.	.	.	.	.	.	.	.	.	T	15.66	2.898450	0.52227	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.52	5.52	0.82312	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96065	0.8718	H	0.94886	3.595	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97216	0.9874	9	0.87932	D	0	.	15.9423	0.79768	0.0:0.0:0.0:1.0	.	24693;24818;24885;32117	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	31190;24693;24885;24818;24690	ENSP00000343764:Y31190C;ENSP00000434586:Y24693C;ENSP00000340554:Y24885C;ENSP00000352154:Y24818C	ENSP00000340554:Y24885C	Y	-	2	0	TTN	179108315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.223000	0.72356	0.455000	0.32223	TAC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179409091	179409091	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179409091C>T	ENST00000591111.1	-	295	91166	c.90942G>A	c.(90940-90942)caG>caA	p.Q30314Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Q23015Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Q23082Q|TTN_ENST00000460472.2_Silent_p.Q22890Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Silent_p.Q31955Q|TTN_ENST00000342992.6_Silent_p.Q29387Q|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30314	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q23015Q(1)|p.Q22890Q(1)|p.Q23082Q(1)|p.Q29385Q(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)			CTCGGTACCACTGATCAGTGT	0.443																																					p.S22890N												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.G68669A	2						.						140.0	127.0	131.0					2																	179409091		1974	4159	6133	179117337	SO:0001819	synonymous_variant	7273	exon173			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.90942G>A	2.37:g.179409091C>T			179117337	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	Silent	SNP	ENST00000591111.1	37																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179425533	179425533	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179425533G>A	ENST00000591111.1	-	276	80627	c.80403C>T	c.(80401-80403)gcC>gcT	p.A26801A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.A19502A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A19569A|TTN_ENST00000460472.2_Silent_p.A19377A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.A28442A|TTN_ENST00000342992.6_Silent_p.A25874A|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26801	Ig-like 128.				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.A25872A(1)|p.A19502A(1)|p.A19377A(1)|p.A19569A(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)			TGCAATTAACGGCCACAGACC	0.463																																					p.P19377L												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C58130T	2						.						79.0	70.0	73.0					2																	179425533		1944	4148	6092	179133779	SO:0001819	synonymous_variant	7273	exon154			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.80403C>T	2.37:g.179425533G>A			179133779	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	Silent	SNP	ENST00000591111.1	37																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179430414	179430414	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179430414G>A	ENST00000591111.1	-	276	75746	c.75522C>T	c.(75520-75522)taC>taT	p.Y25174Y	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Y17875Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y17942Y|TTN_ENST00000460472.2_Silent_p.Y17750Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.Y26815Y|TTN_ENST00000342992.6_Silent_p.Y24247Y|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25174	Fibronectin type-III 83. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y17750Y(1)|p.Y24245Y(1)|p.Y17942Y(1)|p.Y17875Y(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)			TTTCAACAACGTACCCCAGGA	0.473																																					p.T17750M												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C53249T	2						.						177.0	172.0	174.0					2																	179430414		1993	4174	6167	179138660	SO:0001819	synonymous_variant	7273	exon154			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.75522C>T	2.37:g.179430414G>A			179138660	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	Silent	SNP	ENST00000591111.1	37																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179449464	179449464	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179449464C>T	ENST00000591111.1	-	260	60205	c.59981G>A	c.(59980-59982)cGt>cAt	p.R19994H	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12695H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12762H|TTN_ENST00000460472.2_Missense_Mutation_p.R12570H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21635H|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19067H|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19994	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12695H(1)|p.R19065H(1)|p.R12570H(1)|p.R12762H(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)			GTTTTCAGCACGGACCCGGAA	0.488																																					p.V12570M												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G37708A	2						.						179.0	178.0	178.0					2																	179449464		1919	4115	6034	179157710	SO:0001583	missense	7273	exon138			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.59981G>A	2.37:g.179449464C>T	ENSP00000465570:p.Arg19994His		179157710	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		.	.	.	.	.	.	.	.	.	.	C	25.7	4.665617	0.88251	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78123	0.4234	M	0.85630	2.765	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	0.79200	-0.1901	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12570;12695;12762;19994	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19067;12570;12762;12695;12568	ENSP00000343764:R19067H;ENSP00000434586:R12570H;ENSP00000340554:R12762H;ENSP00000352154:R12695H	ENSP00000340554:R12762H	R	-	2	0	TTN	179157710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	2.941000	0.99782	0.655000	0.94253	CGT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179468882	179468882	+	Missense_Mutation	SNP	G	G	A	rs554701601	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179468882G>A	ENST00000591111.1	-	232	49833	c.49609C>T	c.(49609-49611)Cgc>Tgc	p.R16537C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18178C|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C			Q8WZ42	TITIN_HUMAN	titin	16537	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(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)			CCTTTGGTGCGTGCCAAAACT	0.453													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18243	0.0		0.0	False		,,,				2504	0.001				p.R9113C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C27337T	2						.						149.0	147.0	147.0					2																	179468882		1929	4131	6060	179177127	SO:0001583	missense	7273	exon110			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.49609C>T	2.37:g.179468882G>A	ENSP00000465570:p.Arg16537Cys		179177127	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	11.16	1.556690	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41305	0.1153	N	0.25245	0.725	0.40703	D	0.982507	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.29822	-0.9999	9	0.87932	D	0	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	9113;9238;9305;16537	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	15610;9113;9305;9238;9113	ENSP00000343764:R15610C;ENSP00000434586:R9113C;ENSP00000340554:R9305C;ENSP00000352154:R9238C	ENSP00000340554:R9305C	R	-	1	0	TTN	179177127	1.000000	0.71417	0.996000	0.52242	0.784000	0.44337	3.705000	0.54823	2.937000	0.99478	0.650000	0.86243	CGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179599565	179599565	+	Missense_Mutation	SNP	C	C	T	rs200792058		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179599565C>T	ENST00000591111.1	-	49	14359	c.14135G>A	c.(14134-14136)cGa>cAa	p.R4712Q	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R5029Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3785Q			Q8WZ42	TITIN_HUMAN	titin	12092	Ig-like 27.				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.R3785Q(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)			AAAATACATTCGGACTGTGTT	0.418																																					p.R3785Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11354A	2						.	C	,,,GLN/ARG	0,3746		0,0,1873	99.0	94.0	96.0		,,,11354	5.0	0.7	2		96	3,8195		0,3,4096	yes	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,43	0,3,5969	TT,TC,CC		0.0366,0.0,0.0251	,,,benign	,,,3785/33424	179599565	3,11941	1873	4099	5972	179307810	SO:0001583	missense	7273	exon48			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.14135G>A	2.37:g.179599565C>T	ENSP00000465570:p.Arg4712Gln		179307810	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.95	1.791845	0.31685	0.0	3.66E-4	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	5.89	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49304	0.1549	N	0.16166	0.38	0.80722	D	1	B	0.16396	0.017	B	0.15484	0.013	T	0.48692	-0.9013	9	0.87932	D	0	.	10.4644	0.44598	0.0:0.7963:0.1338:0.0698	.	4712	Q8WZ42	TITIN_HUMAN	Q	3785	ENSP00000343764:R3785Q	ENSP00000343764:R3785Q	R	-	2	0	TTN	179307810	0.995000	0.38212	0.701000	0.30321	0.946000	0.59487	0.948000	0.29096	1.481000	0.48307	0.655000	0.94253	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179633626	179633626	+	Silent	SNP	G	G	A	rs368525666		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:179633626G>A	ENST00000591111.1	-	38	9161	c.8937C>T	c.(8935-8937)aaC>aaT	p.N2979N	TTN_ENST00000359218.5_Silent_p.N2933N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.N2933N|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Silent_p.N2979N|TTN_ENST00000460472.2_Silent_p.N2933N|TTN_ENST00000589042.1_Silent_p.N2979N|TTN_ENST00000342992.6_Silent_p.N2979N			Q8WZ42	TITIN_HUMAN	titin	13311	Ig-like 17.				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.N2933N(3)|p.N2979N(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)			TTTCTTCAGCGTTGATGTCTT	0.368																																					p.N2979N												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.C8937T	2						.	G	,,,,	0,4406		0,0,2203	131.0	122.0	125.0		8799,8937,8937,8799,8799	4.3	1.0	2		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	2933/26927,2979/33424,2979/5605,2933/27052,2933/27119	179633626	1,13005	2203	4300	6503	179341871	SO:0001819	synonymous_variant	7273	exon38			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.8937C>T	2.37:g.179633626G>A			179341871	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	Silent	SNP	ENST00000591111.1	37																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAJC10	54431	broad.mit.edu	37	2	183619756	183619756	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:183619756A>G	ENST00000264065.7	+	17	1993	c.1578A>G	c.(1576-1578)acA>acG	p.T526T		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	526	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.T526T(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATCCAACAACAGTGGTATTCA	0.328																																					p.T526T	Pancreas(56;860 1183 25669 35822 48585)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1578G	2						.						114.0	105.0	108.0					2																	183619756		2203	4298	6501	183328001	SO:0001819	synonymous_variant	54431	exon17				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1578A>G	2.37:g.183619756A>G			183328001	NM_018981	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	CCDS33345.1																																																																																				0.328	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
ZNF804A	91752	broad.mit.edu	37	2	185803043	185803043	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:185803043G>A	ENST00000302277.6	+	4	3514	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	974							metal ion binding (GO:0046872)	p.E974K(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						TTGCCATTATGAACTGGCTGA	0.388																																					p.E974K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2920A	2						.						97.0	93.0	94.0					2																	185803043		2203	4300	6503	185511288	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.2920G>A	2.37:g.185803043G>A	ENSP00000303252:p.Glu974Lys		185511288	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542135	0.65198	.	.	ENSG00000170396	ENST00000302277	T	0.15017	2.46	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000052	T	0.38746	0.1052	L	0.57536	1.79	0.36619	D	0.875658	D	0.89917	1.0	D	0.80764	0.994	T	0.42749	-0.9433	10	0.66056	D	0.02	-22.4909	15.7582	0.78054	0.0:0.0:1.0:0.0	.	974	Q7Z570	Z804A_HUMAN	K	974	ENSP00000303252:E974K	ENSP00000303252:E974K	E	+	1	0	ZNF804A	185511288	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	6.349000	0.73013	2.377000	0.81083	0.467000	0.42956	GAA		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ANKAR	150709	broad.mit.edu	37	2	190592627	190592627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:190592627G>A	ENST00000520309.1	+	13	2769	c.2681G>A	c.(2680-2682)cGt>cAt	p.R894H	ANKAR_ENST00000438402.2_Missense_Mutation_p.R894H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R894H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R823H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R669H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	894						integral component of membrane (GO:0016021)		p.R823H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAGGTTGGGCGTGACAATAAG	0.373																																					p.R894H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2681A	2						.						104.0	108.0	107.0					2																	190592627		2203	4300	6503	190300872	SO:0001583	missense	150709	exon13			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2681G>A	2.37:g.190592627G>A	ENSP00000427882:p.Arg894His		190300872	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	De_novo_Start_OutOfFrame	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704006	0.48412	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.43	4.56	0.56223	.	0.000000	0.64402	D	0.000003	T	0.44371	0.1290	L	0.57536	1.79	0.40096	D	0.976317	.	.	.	.	.	.	T	0.46062	-0.9218	8	0.62326	D	0.03	-15.5907	13.4495	0.61163	0.0766:0.0:0.9234:0.0	.	.	.	.	H	894;894;894;823;669	ENSP00000427882:R894H;ENSP00000313513:R894H;ENSP00000397243:R894H;ENSP00000393043:R823H;ENSP00000281412:R669H	ENSP00000281412:R669H	R	+	2	0	ANKAR	190300872	1.000000	0.71417	0.174000	0.22961	0.966000	0.64601	3.995000	0.57001	1.531000	0.49152	-0.244000	0.11960	CGT		0.373	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
GTF3C3	9330	broad.mit.edu	37	2	197639853	197639853	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:197639853A>G	ENST00000263956.3	-	13	1907	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	606					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.N606N(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTGCATCACAATTTGCTGACT	0.333																																					p.N606N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1818C	2						.						117.0	107.0	110.0					2																	197639853		2203	4300	6503	197348098	SO:0001819	synonymous_variant	9330	exon13			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1818T>C	2.37:g.197639853A>G			197348098	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	CCDS2316.1																																																																																				0.333	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
PLCL1	5334	broad.mit.edu	37	2	198949387	198949387	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:198949387G>A	ENST00000428675.1	+	2	1544	c.1146G>A	c.(1144-1146)ttG>ttA	p.L382L	PLCL1_ENST00000437704.2_Silent_p.L284L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	382					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L284L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGTATTTATTGTCATCAGAAT	0.398																																					p.L382L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1146A	2						.						115.0	107.0	110.0					2																	198949387		2203	4300	6503	198657632	SO:0001819	synonymous_variant	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1146G>A	2.37:g.198949387G>A			198657632	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																				0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
AOX1	316	broad.mit.edu	37	2	201485407	201485407	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:201485407T>C	ENST00000374700.2	+	17	1980	c.1739T>C	c.(1738-1740)aTt>aCt	p.I580T	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	580					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.I580T(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAAGACCCAATTGGCCACCCC	0.423																																					p.I580T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1739C	2						.						102.0	88.0	93.0					2																	201485407		2203	4300	6503	201193652	SO:0001583	missense	316	exon17			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1739T>C	2.37:g.201485407T>C	ENSP00000363832:p.Ile580Thr		201193652	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211988	0.39102	.	.	ENSG00000138356	ENST00000374700	T	0.14516	2.5	5.19	5.19	0.71726	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (2);	0.250785	0.38837	N	0.001547	T	0.22205	0.0535	M	0.74881	2.28	0.37168	D	0.902904	B	0.14438	0.01	B	0.25405	0.06	T	0.10337	-1.0634	10	0.87932	D	0	-22.5171	15.2135	0.73244	0.0:0.0:0.0:1.0	.	580	Q06278	ADO_HUMAN	T	580	ENSP00000363832:I580T	ENSP00000363832:I580T	I	+	2	0	AOX1	201193652	1.000000	0.71417	0.865000	0.33974	0.366000	0.29705	7.207000	0.77899	2.188000	0.69820	0.533000	0.62120	ATT		0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
FAM126B	285172	broad.mit.edu	37	2	201876151	201876151	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:201876151A>G	ENST00000418596.3	-	6	565	c.378T>C	c.(376-378)acT>acC	p.T126T	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	126						intracellular (GO:0005622)		p.T126T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGGAGGGGATAGTGAAAGACA	0.299																																					p.T126T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T378C	2						.						48.0	47.0	48.0					2																	201876151		2203	4277	6480	201584396	SO:0001819	synonymous_variant	285172	exon6			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.378T>C	2.37:g.201876151A>G			201584396	NM_173822	B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	CCDS2335.1																																																																																				0.299	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	
LANCL1	10314	broad.mit.edu	37	2	211319888	211319888	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:211319888G>A	ENST00000443314.1	-	3	692	c.350C>T	c.(349-351)gCc>gTc	p.A117V	LANCL1_ENST00000441020.3_Missense_Mutation_p.A117V|LANCL1_ENST00000233714.4_Missense_Mutation_p.A117V|LANCL1_ENST00000431941.2_Missense_Mutation_p.A117V|LANCL1_ENST00000450366.2_Missense_Mutation_p.A117V|AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	117					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A117V(1)		breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TAGCACAGCGGCCACTGCCAG	0.448																																					p.A117V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	2						.						105.0	96.0	99.0					2																	211319888		2203	4300	6503	211028133	SO:0001583	missense	10314	exon4			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.350C>T	2.37:g.211319888G>A	ENSP00000388713:p.Ala117Val		211028133	NM_001136574		Missense_Mutation	SNP	ENST00000443314.1	37	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128042	0.37533	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.64	3.77	0.43336	Six-hairpin glycosidase-like (1);	0.193033	0.53938	D	0.000045	T	0.44891	0.1315	M	0.66439	2.03	0.52099	D	0.99994	B	0.16396	0.017	B	0.12156	0.007	T	0.52102	-0.8620	10	0.72032	D	0.01	.	17.0299	0.86458	0.0:0.3552:0.6448:0.0	.	117	O43813	LANC1_HUMAN	V	117	ENSP00000388713:A117V;ENSP00000393323:A117V;ENSP00000393597:A117V;ENSP00000233714:A117V;ENSP00000397646:A117V;ENSP00000396518:A117V	ENSP00000233714:A117V	A	-	2	0	LANCL1	211028133	1.000000	0.71417	0.692000	0.30179	0.343000	0.28985	3.167000	0.50793	1.607000	0.50170	0.650000	0.86243	GCC		0.448	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055	
ERBB4	2066	broad.mit.edu	37	2	212543809	212543809	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:212543809C>A	ENST00000342788.4	-	13	1900	c.1590G>T	c.(1588-1590)agG>agT	p.R530S	ERBB4_ENST00000436443.1_Missense_Mutation_p.R530S|ERBB4_ENST00000402597.1_Missense_Mutation_p.R530S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	530	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R530S(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTATGCAGATCCTTCCTCTAC	0.483										TSP Lung(8;0.080)																											p.R530S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1590T	2						.						74.0	64.0	68.0					2																	212543809		2203	4300	6503	212252054	SO:0001583	missense	2066	exon13			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1590G>T	2.37:g.212543809C>A	ENSP00000342235:p.Arg530Ser		212252054	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.963076|1.963076	0.34659|0.34659	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|D;D;D	.|0.85013	.|-1.93;-1.93;-1.93	5.33|5.33	4.45|4.45	0.53987|0.53987	.|Growth factor, receptor (1);	.|0.162902	.|0.56097	.|D	.|0.000039	D|D	0.82572|0.82572	0.5066|0.5066	L|L	0.41236|0.41236	1.265|1.265	0.36825|0.36825	D|D	0.886578|0.886578	.|P;B;B;P;B	.|0.44044	.|0.825;0.003;0.068;0.726;0.077	.|P;B;B;P;B	.|0.45971	.|0.499;0.022;0.047;0.499;0.075	D|D	0.85421|0.85421	0.1143|0.1143	5|10	.|0.52906	.|T	.|0.07	.|.	12.7993|12.7993	0.57576|0.57576	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	.|530;530;389;530;530	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	V|S	530|530	.|ENSP00000342235:R530S;ENSP00000403204:R530S;ENSP00000385565:R530S	.|ENSP00000342235:R530S	G|R	-|-	2|3	0|2	ERBB4|ERBB4	212252054|212252054	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.511000|0.511000	0.34104|0.34104	1.186000|1.186000	0.32078|0.32078	1.236000|1.236000	0.43740|0.43740	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.483	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
IKZF2	22807	broad.mit.edu	37	2	213878572	213878572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:213878572C>A	ENST00000434687.1	-	8	1108	c.799G>T	c.(799-801)Gag>Tag	p.E267*	IKZF2_ENST00000451136.2_Nonsense_Mutation_p.E195*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.E241*|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.E267*|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.E273*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.E122*|IKZF2_ENST00000421754.2_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	267					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.E267*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTGAGCTTCTCTATGACAGCA	0.398																																					p.E267X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G799T	2						.						144.0	141.0	142.0					2																	213878572		2203	4300	6503	213586817	SO:0001587	stop_gained	22807	exon7			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.799G>T	2.37:g.213878572C>A	ENSP00000412869:p.Glu267*		213586817	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	39	7.438734	0.98286	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2857	19.8465	0.96710	0.0:1.0:0.0:0.0	.	.	.	.	X	267;273;267;241;195;122	.	ENSP00000342876:E273X	E	-	1	0	IKZF2	213586817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.769000	0.95229	0.561000	0.74099	GAG		0.398	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
ABCA12	26154	broad.mit.edu	37	2	215839571	215839571	+	Missense_Mutation	SNP	G	G	A	rs541331115		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:215839571G>A	ENST00000272895.7	-	35	5618	c.5399C>T	c.(5398-5400)aCg>aTg	p.T1800M	ABCA12_ENST00000389661.4_Missense_Mutation_p.T1482M	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1800					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.T1800M(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)		AAGTGCTTCCGTGCTCGGGTG	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19587	0.0		0.0	False		,,,				2504	0.0				p.T1800M	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5399T	2						.						146.0	146.0	146.0					2																	215839571		2203	4300	6503	215547816	SO:0001583	missense	26154	exon35			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.5399C>T	2.37:g.215839571G>A	ENSP00000272895:p.Thr1800Met		215547816	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203925	0.38905	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89270	-2.49;-2.48	5.7	5.7	0.88788	.	0.167288	0.42420	D	0.000703	D	0.91509	0.7319	L	0.35487	1.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.967	D	0.91729	0.5395	10	0.54805	T	0.06	.	17.6363	0.88123	0.0:0.0:1.0:0.0	.	1800;1482	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	M	1800;1482	ENSP00000272895:T1800M;ENSP00000374312:T1482M	ENSP00000272895:T1800M	T	-	2	0	ABCA12	215547816	1.000000	0.71417	0.772000	0.31596	0.013000	0.08279	7.157000	0.77461	2.705000	0.92388	0.650000	0.86243	ACG		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
RNF25	64320	broad.mit.edu	37	2	219537613	219537613	+	5'Flank	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:219537613G>C	ENST00000295704.2	-	0	0				STK36_ENST00000440309.1_Missense_Mutation_p.G21R|STK36_ENST00000295709.3_Missense_Mutation_p.G21R|STK36_ENST00000392106.2_Missense_Mutation_p.G21R|STK36_ENST00000392105.3_Missense_Mutation_p.G21R	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G21R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGTACAAGGGTCGAAGAAA	0.458																																					p.G21R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61C	2						.						153.0	157.0	156.0					2																	219537613		2203	4300	6503	219245857	SO:0001631	upstream_gene_variant	27148	exon2				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219537613G>C	Exception_encountered		219245857	NM_015690	A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556793	0.96514	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;D	0.84298	1.55;1.55;1.55;1.55;-1.83	5.84	5.84	0.93424	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	0.46442	D	0.000295	D	0.93588	0.7953	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93757	0.7063	10	0.87932	D	0	-13.3423	20.1379	0.98040	0.0:0.0:1.0:0.0	.	21;21	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	R	21	ENSP00000295709:G21R;ENSP00000375955:G21R;ENSP00000375954:G21R;ENSP00000394095:G21R;ENSP00000403527:G21R	ENSP00000295709:G21R	G	+	1	0	STK36	219245857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.540000	0.98080	2.779000	0.95612	0.655000	0.94253	GGT		0.458	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453	
STK36	27148	broad.mit.edu	37	2	219544703	219544703	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:219544703G>A	ENST00000295709.3	+	9	1315	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	STK36_ENST00000440309.1_Missense_Mutation_p.A346T|STK36_ENST00000392106.2_Missense_Mutation_p.A346T|STK36_ENST00000392105.3_Missense_Mutation_p.A346T	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.A346T(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGACTCGGGGCCACTCCTCA	0.592																																					p.A346T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	2						.						69.0	72.0	71.0					2																	219544703		2203	4300	6503	219252947	SO:0001583	missense	27148	exon9			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1036G>A	2.37:g.219544703G>A	ENSP00000295709:p.Ala346Thr		219252947	NM_015690		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985714	0.18889	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.24	-0.795	0.10915	.	0.346182	0.20820	N	0.085089	T	0.50086	0.1595	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.25012	-1.0144	10	0.30854	T	0.27	2.5892	5.4285	0.16440	0.3821:0.1338:0.4841:0.0	.	346;346	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	T	346	ENSP00000295709:A346T;ENSP00000375955:A346T;ENSP00000375954:A346T;ENSP00000394095:A346T	ENSP00000295709:A346T	A	+	1	0	STK36	219252947	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	0.183000	0.16919	-0.368000	0.08040	-0.137000	0.14449	GCC		0.592	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2		
ABCB6	10058	broad.mit.edu	37	2	220082508	220082508	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:220082508G>A	ENST00000265316.3	-	2	887	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	ABCB6_ENST00000439002.2_Intron	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	191					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.L191L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATACCGCAGCACCCACAGG	0.473																																					p.L191L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C571T	2						.						100.0	108.0	105.0					2																	220082508		2203	4300	6503	219790752	SO:0001819	synonymous_variant	10058	exon2			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.571C>T	2.37:g.220082508G>A			219790752	NM_005689	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	CCDS2436.1																																																																																				0.473	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
STK16	8576	broad.mit.edu	37	2	220111404	220111404	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:220111404G>C	ENST00000409638.3	+	3	284	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	STK16_ENST00000409260.1_Missense_Mutation_p.E83Q|STK16_ENST00000409743.1_Missense_Mutation_p.E38Q|STK16_ENST00000486813.1_Intron|GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409516.3_Intron|STK16_ENST00000396738.2_Missense_Mutation_p.E38Q	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E38Q(1)		skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGACCTAGTGGAAGGGTTACA	0.562																																					p.E38Q	Pancreas(34;887 922 17165 36961 39622)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112C	2						.						56.0	59.0	58.0					2																	220111404		2023	4182	6205	219819648	SO:0001583	missense	8576	exon3			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.112G>C	2.37:g.220111404G>C	ENSP00000386928:p.Glu38Gln		219819648	NM_001008910	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868189	0.91587	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.73789	2.09;2.09;-0.78;2.09	5.91	5.91	0.95273	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	0.82756	0.5106	L	0.40543	1.245	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.863;1.0	D;D;P;D	0.91635	0.998;0.999;0.609;0.981	T	0.81858	-0.0739	10	0.51188	T	0.08	-19.9102	20.3052	0.98627	0.0:0.0:1.0:0.0	.	38;38;83;38	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	Q	38;38;83;38	ENSP00000386928:E38Q;ENSP00000379964:E38Q;ENSP00000387156:E83Q;ENSP00000386553:E38Q	ENSP00000379964:E38Q	E	+	1	0	STK16	219819648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.808000	0.96608	0.655000	0.94253	GAA		0.562	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1		
CHPF	79586	broad.mit.edu	37	2	220405279	220405279	+	Missense_Mutation	SNP	G	G	A	rs552002112		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:220405279G>A	ENST00000243776.6	-	4	1402	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	CHPF_ENST00000535926.1_Missense_Mutation_p.P223L	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	385					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.P385L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCGGGAGGCCGGGCGGGATGG	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0				p.P385L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1154T	2						.						21.0	24.0	23.0					2																	220405279		2202	4300	6502	220113523	SO:0001583	missense	79586	exon4			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1154C>T	2.37:g.220405279G>A	ENSP00000243776:p.Pro385Leu		220113523	NM_024536	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510693	0.85389	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.33438	1.41;1.41	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	T	0.61073	0.2318	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69323	-0.5175	10	0.87932	D	0	-32.6848	17.5773	0.87953	0.0:0.0:1.0:0.0	.	385	Q8IZ52	CHSS2_HUMAN	L	385;223	ENSP00000243776:P385L;ENSP00000445571:P223L	ENSP00000243776:P385L	P	-	2	0	CHPF	220113523	1.000000	0.71417	0.947000	0.38551	0.982000	0.71751	9.651000	0.98493	2.470000	0.83445	0.561000	0.74099	CCG		0.642	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
SLC4A3	6508	broad.mit.edu	37	2	220495014	220495014	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:220495014G>T	ENST00000358055.3	+	6	1263	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L	SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V278L|SLC4A3_ENST00000317151.3_Missense_Mutation_p.V251L|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V278L|SLC4A3_ENST00000373760.2_Missense_Mutation_p.V251L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	251					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.V278L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCAGCAGGTGCCCACAGA	0.642																																					p.V251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751T	2						.						40.0	45.0	43.0					2																	220495014		2203	4300	6503	220203258	SO:0001583	missense	6508	exon6				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.751G>T	2.37:g.220495014G>T	ENSP00000350756:p.Val251Leu		220203258	NM_005070	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281349	0.80692	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000004	T	0.35307	0.0927	L	0.56199	1.76	0.44454	D	0.997381	P;P	0.49185	0.701;0.92	B;P	0.49561	0.285;0.615	T	0.06789	-1.0807	10	0.44086	T	0.13	.	9.5233	0.39149	0.0989:0.0:0.9011:0.0	.	251;278	P48751;P48751-3	B3A3_HUMAN;.	L	251;251;278;278;251	ENSP00000350756:V251L;ENSP00000362865:V251L;ENSP00000273063:V278L;ENSP00000362867:V278L;ENSP00000314006:V251L	ENSP00000273063:V278L	V	+	1	0	SLC4A3	220203258	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.695000	0.47043	2.226000	0.72624	0.462000	0.41574	GTG		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
NYAP2	57624	broad.mit.edu	37	2	226447641	226447641	+	Missense_Mutation	SNP	G	G	A	rs138500026		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:226447641G>A	ENST00000272907.6	+	4	1921	c.1508G>A	c.(1507-1509)cGg>cAg	p.R503Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	503					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R503Q(1)									GGTGGCTCCCGGTCCCGGACA	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		12987	0.0		0.001	False		,,,				2504	0.0				p.R503Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1508A	2						.	G	GLN/ARG	0,3824		0,0,1912	16.0	20.0	19.0		1508	5.6	0.3	2	dbSNP_134	19	1,8225		0,1,4112	no	missense	KIAA1486	NM_020864.1	43	0,1,6024	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	503/654	226447641	1,12049	1912	4113	6025	226155885	SO:0001583	missense	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1508G>A	2.37:g.226447641G>A	ENSP00000272907:p.Arg503Gln		226155885	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.71	3.683062	0.68157	0.0	1.22E-4	ENSG00000144460	ENST00000272907	T	0.33438	1.41	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.982;0.993	T	0.38779	-0.9645	10	0.46703	T	0.11	-12.758	19.7096	0.96089	0.0:0.0:1.0:0.0	.	17;503	Q9P242-3;Q9P242	.;K1486_HUMAN	Q	503	ENSP00000272907:R503Q	ENSP00000272907:R503Q	R	+	2	0	KIAA1486	226155885	1.000000	0.71417	0.289000	0.24876	0.027000	0.11550	9.476000	0.97823	2.652000	0.90054	0.655000	0.94253	CGG		0.692	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
COL4A4	1286	broad.mit.edu	37	2	227915776	227915776	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:227915776G>A	ENST00000396625.3	-	33	3274	c.3067C>T	c.(3067-3069)Cca>Tca	p.P1023S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1023S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1023	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P1023S(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAGGCCCTGGCTGACCTTTC	0.572																																					p.P1023S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3067T	2						.						101.0	101.0	101.0					2																	227915776		1887	4125	6012	227624020	SO:0001583	missense	1286	exon33				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3067C>T	2.37:g.227915776G>A	ENSP00000379866:p.Pro1023Ser		227624020	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295684	0.23564	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.98649	-5.05;-5.05	5.52	4.62	0.57501	.	.	.	.	.	D	0.96586	0.8886	L	0.48218	1.51	0.09310	N	1	P	0.35793	0.521	B	0.35182	0.197	D	0.92682	0.6159	9	0.39692	T	0.17	.	9.5045	0.39037	0.0:0.2881:0.5632:0.1487	.	1023	P53420	CO4A4_HUMAN	S	1023	ENSP00000379866:P1023S;ENSP00000328553:P1023S	ENSP00000328553:P1023S	P	-	1	0	COL4A4	227624020	0.504000	0.26123	0.023000	0.16930	0.394000	0.30568	2.739000	0.47409	1.293000	0.44690	0.655000	0.94253	CCA		0.572	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
C2orf83	56918	broad.mit.edu	37	2	228476305	228476305	+	Silent	SNP	G	G	A	rs149194283		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:228476305G>A	ENST00000264387.4	-	3	344	c.258C>T	c.(256-258)tgC>tgT	p.C86C	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	86					transport (GO:0006810)	membrane (GO:0016020)		p.C86C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						AGGTCAGCCCGCATGTCTGTA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.001	False		,,,				2504	0.0				p.C86C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258T	2						.						91.0	96.0	95.0					2																	228476305		2203	4300	6503	228184549	SO:0001819	synonymous_variant	56918	exon3				CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.258C>T	2.37:g.228476305G>A			228184549	NM_020161	A2RRG6|B8ZZI8|Q9NPW4	Silent	SNP	ENST00000264387.4	37	CCDS33388.1																																																																																				0.488	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161	
SPHKAP	80309	broad.mit.edu	37	2	228882550	228882550	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:228882550G>A	ENST00000392056.3	-	7	3066	c.3020C>T	c.(3019-3021)aCg>aTg	p.T1007M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1007M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1007						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.T1007M(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGCTCGTCCGTCTTCCTCTT	0.517																																					p.T1007M												.	.	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.C3020T	2						.						91.0	79.0	83.0					2																	228882550		2203	4300	6503	228590794	SO:0001583	missense	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3020C>T	2.37:g.228882550G>A	ENSP00000375909:p.Thr1007Met		228590794	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965491	0.74131	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.20738	2.06;2.05	6.08	6.08	0.98989	.	0.044434	0.85682	D	0.000000	T	0.38268	0.1034	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.975;0.964;0.993	T	0.06826	-1.0805	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	38;1007;1007	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1007	ENSP00000375909:T1007M;ENSP00000339886:T1007M	ENSP00000339886:T1007M	T	-	2	0	SPHKAP	228590794	1.000000	0.71417	0.553000	0.28255	0.787000	0.44495	9.020000	0.93667	2.894000	0.99253	0.655000	0.94253	ACG		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
DNER	92737	broad.mit.edu	37	2	230231813	230231813	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:230231813G>T	ENST00000341772.4	-	12	2012	c.1878C>A	c.(1876-1878)caC>caA	p.H626Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	626					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.H626Q(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCTCCGCCATGTGCCCGGACT	0.507																																					p.H626Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1878A	2						.						59.0	47.0	51.0					2																	230231813		2203	4300	6503	229940057	SO:0001583	missense	92737	exon12			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1878C>A	2.37:g.230231813G>T	ENSP00000345229:p.His626Gln		229940057	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475437	0.43942	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.88354	-2.37	5.82	2.92	0.33932	.	0.108968	0.64402	D	0.000008	T	0.71863	0.3390	N	0.08118	0	0.38352	D	0.94436	B	0.22346	0.068	B	0.19148	0.024	T	0.61202	-0.7110	10	0.14656	T	0.56	.	5.5488	0.17079	0.2725:0.0:0.599:0.1285	.	626	Q8NFT8	DNER_HUMAN	Q	626;344	ENSP00000345229:H626Q	ENSP00000345229:H626Q	H	-	3	2	DNER	229940057	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	0.941000	0.29005	0.817000	0.34445	0.551000	0.68910	CAC		0.507	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
TRIP12	9320	broad.mit.edu	37	2	230650504	230650504	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:230650504C>T	ENST00000283943.5	-	33	5016	c.4838G>A	c.(4837-4839)cGg>cAg	p.R1613Q	TRIP12_ENST00000389044.4_Missense_Mutation_p.R1661Q|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1343Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1613					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.R1613Q(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAACATGGCCCGTGAGCTGCC	0.448																																					p.R1613Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4838A	2						.						117.0	118.0	118.0					2																	230650504		2203	4300	6503	230358748	SO:0001583	missense	9320	exon33			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4838G>A	2.37:g.230650504C>T	ENSP00000283943:p.Arg1613Gln		230358748	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450753	0.96205	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.43688	0.94;0.94;0.94	5.66	4.77	0.60923	HECT (3);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	L	0.42245	1.32	0.80722	D	1	B;D;B	0.69078	0.016;0.997;0.016	B;P;B	0.55965	0.003;0.788;0.003	T	0.43572	-0.9383	10	0.45353	T	0.12	.	15.0019	0.71479	0.0:0.9305:0.0:0.0695	.	1343;1661;1613	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	Q	1613;1343;1661	ENSP00000283943:R1613Q;ENSP00000373697:R1343Q;ENSP00000373696:R1661Q	ENSP00000283943:R1613Q	R	-	2	0	TRIP12	230358748	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.405000	0.80007	2.661000	0.90470	0.585000	0.79938	CGG		0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SP110	3431	broad.mit.edu	37	2	231037655	231037655	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:231037655G>A	ENST00000358662.4	-	15	1689	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA|SP110_ENST00000258381.6_Silent_p.C537C|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	537					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.C537C(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGCACACCTCGCATTCATCCG	0.562																																					p.C537C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1611T	2						.						141.0	100.0	114.0					2																	231037655		2203	4300	6503	230745899	SO:0001819	synonymous_variant	3431	exon15			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1611C>T	2.37:g.231037655G>A			230745899	NM_080424	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	CCDS2474.1																																																																																				0.562	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	
NEU2	4759	broad.mit.edu	37	2	233899362	233899362	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:233899362C>A	ENST00000233840.3	+	2	738	c.738C>A	c.(736-738)gcC>gcA	p.A246A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	246					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.A246A(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GGGTCCAGGCCCAGAGCACCA	0.657																																					p.A246A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C738A	2						.						30.0	31.0	31.0					2																	233899362		2201	4299	6500	233607606	SO:0001819	synonymous_variant	4759	exon2			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.738C>A	2.37:g.233899362C>A			233607606	NM_005383	Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	CCDS2501.1																																																																																				0.657	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	
RSAD2	91543	broad.mit.edu	37	2	7023647	7023647	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:7023647G>A	ENST00000382040.3	+	2	628	c.492G>A	c.(490-492)agG>agA	p.R164R	RSAD2_ENST00000541728.1_Silent_p.R57R	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.R164R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TCCGGGAGAGGTGGTTCCAGA	0.498																																					p.R164R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A	2						.						107.0	94.0	98.0					2																	7023647		2203	4300	6503	6941098	SO:0001819	synonymous_variant	91543	exon2			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.492G>A	2.37:g.7023647G>A			6941098	NM_080657		Silent	SNP	ENST00000382040.3	37	CCDS1656.1																																																																																				0.498	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657	
POMC	5443	broad.mit.edu	37	2	25383999	25383999	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:25383999G>A	ENST00000405623.1	-	3	1210	c.755C>T	c.(754-756)aCg>aTg	p.T252M	POMC_ENST00000264708.3_Missense_Mutation_p.T252M|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000380794.1_Missense_Mutation_p.T252M|POMC_ENST00000395826.2_Missense_Mutation_p.T252M			P01189	COLI_HUMAN	proopiomelanocortin	252					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.T252M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TTTGAACAGCGTCACCAGGGG	0.642																																					p.T252M	Colon(110;1515 1566 8452 10082 43216)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C755T	2						.						45.0	46.0	46.0					2																	25383999		2203	4300	6503	25237503	SO:0001583	missense	5443	exon4				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.755C>T	2.37:g.25383999G>A	ENSP00000384092:p.Thr252Met		25237503	NM_001035256	P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835222	0.71373	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.15	5.15	0.70609	Opiodes neuropeptide (1);	0.051216	0.85682	D	0.000000	D	0.89719	0.6796	M	0.80332	2.49	0.58432	D	0.999998	D	0.76494	0.999	D	0.68483	0.958	D	0.91189	0.4982	10	0.87932	D	0	-15.7643	17.2122	0.86934	0.0:0.0:1.0:0.0	.	252	P01189	COLI_HUMAN	M	252	ENSP00000370171:T252M;ENSP00000384092:T252M;ENSP00000264708:T252M;ENSP00000379170:T252M	ENSP00000264708:T252M	T	-	2	0	POMC	25237503	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.019000	0.57181	2.409000	0.81822	0.561000	0.74099	ACG		0.642	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256	
PREB	10113	broad.mit.edu	37	2	27355487	27355487	+	Missense_Mutation	SNP	G	G	A	rs111330078	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:27355487G>A	ENST00000260643.2	-	5	989	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	PREB_ENST00000406567.3_Missense_Mutation_p.R246C|PREB_ENST00000416802.1_5'Flank	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	246					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R246C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGTAGCGGTAAGGTGTG	0.587													G|||	6	0.00119808	0.0	0.0	5008	,	,		18531	0.0		0.003	False		,,,				2504	0.0031				p.R246C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C736T	2						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	84.0	86.0		736	5.8	1.0	2	dbSNP_132	86	14,8586	10.5+/-38.8	0,14,4286	yes	missense	PREB	NM_013388.4	180	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	probably-damaging	246/418	27355487	15,12991	2203	4300	6503	27208991	SO:0001583	missense	10113	exon5				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.736C>T	2.37:g.27355487G>A	ENSP00000260643:p.Arg246Cys		27208991	NM_013388	Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	CCDS1738.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	G|G	15.55|15.55	2.866741|2.866741	0.51588|0.51588	2.27E-4|2.27E-4	0.001628|0.001628	ENSG00000138073|ENSG00000138073	ENST00000430533|ENST00000260643;ENST00000406567;ENST00000546336	.|T;T	.|0.30448	.|1.53;4.98	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Quinonprotein alcohol dehydrogenase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56396|0.56396	0.1982|0.1982	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.996;0.997	T|T	0.56165|0.56165	-0.8024|-0.8024	5|10	.|0.54805	.|T	.|0.06	-16.6506|-16.6506	15.4707|15.4707	0.75439|0.75439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|246;246	.|B5MC98;Q9HCU5	.|.;PREB_HUMAN	L|C	1|246	.|ENSP00000260643:R246C;ENSP00000384032:R246C	.|ENSP00000260643:R246C	P|R	-|-	2|1	0|0	PREB|PREB	27208991|27208991	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.403000|0.403000	0.30841|0.30841	4.139000|4.139000	0.58024|0.58024	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.587	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388	
IFT172	26160	broad.mit.edu	37	2	27700114	27700114	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:27700114C>T	ENST00000260570.3	-	13	1398	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	RNU6-986P_ENST00000363133.1_RNA|IFT172_ENST00000359466.6_Missense_Mutation_p.R432H|IFT172_ENST00000416524.2_Missense_Mutation_p.R411H	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	432					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.R432H(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)					GAATTCAGTGCGTACAGAACC	0.448																																					p.R432H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1295A	2						.						172.0	178.0	176.0					2																	27700114		2203	4300	6503	27553618	SO:0001583	missense	26160	exon13			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.1295G>A	2.37:g.27700114C>T	ENSP00000260570:p.Arg432His		27553618	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507551	0.85282	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.23348	1.91;1.91;1.91	5.83	5.83	0.93111	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.996;0.996	T	0.67719	-0.5598	10	0.72032	D	0.01	-12.13	18.6658	0.91489	0.0:1.0:0.0:0.0	.	432;432;406;432	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	H	432;432;411	ENSP00000260570:R432H;ENSP00000352443:R432H;ENSP00000407408:R411H	ENSP00000260570:R432H	R	-	2	0	IFT172	27553618	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	7.178000	0.77657	2.758000	0.94735	0.557000	0.71058	CGC		0.448	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
NLRC4	58484	broad.mit.edu	37	2	32475255	32475255	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:32475255G>T	ENST00000404025.2	-	5	2166	c.1678C>A	c.(1678-1680)Cat>Aat	p.H560N	NLRC4_ENST00000402280.1_Missense_Mutation_p.H560N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.H560N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	560					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.H560N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGATATAAATGGATGCCACAC	0.403																																					p.H560N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1678A	2						.						133.0	123.0	126.0					2																	32475255		2203	4300	6503	32328759	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1678C>A	2.37:g.32475255G>T	ENSP00000385090:p.His560Asn		32328759	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.823544	0.00004	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.48522	0.81;0.81;0.81	3.0	-1.16	0.09678	.	0.414158	0.17858	N	0.159611	T	0.13543	0.0328	N	0.01352	-0.895	0.22050	N	0.999399	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	9	0.08179	T	0.78	.	6.2578	0.20884	0.1457:0.0:0.4472:0.4071	.	560	Q9NPP4	NLRC4_HUMAN	N	560	ENSP00000354159:H560N;ENSP00000385428:H560N;ENSP00000385090:H560N	ENSP00000354159:H560N	H	-	1	0	NLRC4	32328759	0.998000	0.40836	0.106000	0.21319	0.004000	0.04260	0.101000	0.15251	-0.204000	0.10235	-0.399000	0.06403	CAT		0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
NLRC4	58484	broad.mit.edu	37	2	32475961	32475961	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:32475961T>G	ENST00000404025.2	-	5	1460	c.972A>C	c.(970-972)caA>caC	p.Q324H	NLRC4_ENST00000402280.1_Missense_Mutation_p.Q324H|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q324H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	324	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.Q324H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATTTCTGAATTTGGAGCAACA	0.512																																					p.Q324H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A972C	2						.						69.0	65.0	66.0					2																	32475961		2203	4300	6503	32329465	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.972A>C	2.37:g.32475961T>G	ENSP00000385090:p.Gln324His		32329465	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	T	5.867	0.344095	0.11126	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.53640	0.61;0.61;0.61	3.26	-3.37	0.04898	.	0.000000	0.46145	D	0.000312	T	0.48960	0.1529	L	0.41236	1.265	0.33111	D	0.540510	D	0.65815	0.995	D	0.74674	0.984	T	0.56703	-0.7935	9	0.16420	T	0.52	-9.341	10.9734	0.47452	0.0:0.5991:0.0:0.4009	.	324	Q9NPP4	NLRC4_HUMAN	H	324	ENSP00000354159:Q324H;ENSP00000385428:Q324H;ENSP00000385090:Q324H	ENSP00000354159:Q324H	Q	-	3	2	NLRC4	32329465	0.422000	0.25473	0.036000	0.18154	0.089000	0.18198	-0.909000	0.04058	-0.643000	0.05473	-0.461000	0.05368	CAA		0.512	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
VIT	5212	broad.mit.edu	37	2	36982156	36982156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:36982156C>T	ENST00000389975.3	+	5	670	c.368C>T	c.(367-369)tCg>tTg	p.S123L	VIT_ENST00000404084.1_Missense_Mutation_p.S101L|VIT_ENST00000379242.3_Missense_Mutation_p.S123L|VIT_ENST00000457137.2_Missense_Mutation_p.S123L|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.S123L|VIT_ENST00000379241.3_Missense_Mutation_p.S123L	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	123	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.S123L(1)		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)				GGTGTCCAATCGTTATCCCTA	0.443																																					p.S123L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C368T	2						.						160.0	140.0	147.0					2																	36982156		2203	4300	6503	36835660	SO:0001583	missense	5212	exon5			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.368C>T	2.37:g.36982156C>T	ENSP00000374625:p.Ser123Leu		36835660	NM_001177972	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719228	0.68844	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54;-3.54	5.63	5.63	0.86233	LCCL (5);	0.080409	0.64402	D	0.000003	D	0.98191	0.9402	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.953;0.921;0.97;0.971;0.999	D	0.99010	1.0814	10	0.87932	D	0	-10.4499	19.3047	0.94157	0.0:1.0:0.0:0.0	.	123;123;123;123;123;123	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	L	123;123;123;123;101;123;123	ENSP00000368544:S123L;ENSP00000374625:S123L;ENSP00000393561:S123L;ENSP00000384154:S101L;ENSP00000368543:S123L;ENSP00000385658:S123L	ENSP00000368543:S123L	S	+	2	0	VIT	36835660	1.000000	0.71417	0.886000	0.34754	0.016000	0.09150	6.220000	0.72237	2.652000	0.90054	0.655000	0.94253	TCG		0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
STRN	6801	broad.mit.edu	37	2	37113913	37113913	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:37113913T>C	ENST00000263918.4	-	8	996	c.988A>G	c.(988-990)Acc>Gcc	p.T330A	STRN_ENST00000379213.2_Intron	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	330					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.T330A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTGAGTTTGGTAATTACTCCC	0.378																																					p.T330A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A988G	2						.						230.0	237.0	235.0					2																	37113913		2203	4300	6503	36967417	SO:0001583	missense	6801	exon8			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.988A>G	2.37:g.37113913T>C	ENSP00000263918:p.Thr330Ala		36967417	NM_003162	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338945	0.41398	.	.	ENSG00000115808	ENST00000263918;ENST00000538092	T	0.63744	-0.06	5.81	4.64	0.57946	.	0.144811	0.64402	D	0.000009	T	0.45796	0.1360	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.28299	-1.0048	10	0.10902	T	0.67	-13.6444	12.5153	0.56028	0.1249:0.0:0.0:0.8751	.	330	O43815	STRN_HUMAN	A	330;305	ENSP00000263918:T330A	ENSP00000263918:T330A	T	-	1	0	STRN	36967417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.870000	0.56070	0.987000	0.38709	0.533000	0.62120	ACC		0.378	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
CALM2	805	broad.mit.edu	37	2	47389781	47389781	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:47389781G>A	ENST00000272298.7	-	3	212	c.55C>T	c.(55-57)Cta>Tta	p.L19L	CALM2_ENST00000409563.1_Silent_p.L66L|RP11-761B3.1_ENST00000422269.1_Intron|CALM2_ENST00000484408.1_5'UTR	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)|p.L19L(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TTGTCAAATAGTGAAAAAGCT	0.333																																					p.L19L												.	.	3	Whole gene deletion(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.C55T	2						.						73.0	70.0	71.0					2																	47389781		2203	4300	6503	47243285	SO:0001819	synonymous_variant	805	exon3				CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.55C>T	2.37:g.47389781G>A			47243285	NM_001743	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	ENST00000272298.7	37	CCDS1832.1																																																																																				0.333	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3	NM_001743	
CHAC2	494143	broad.mit.edu	37	2	54001321	54001323	+	In_Frame_Del	DEL	GAA	GAA	-	rs371632565|rs374101362		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	GAA	GAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:54001321_54001323delGAA	ENST00000295304.4	+	3	309_311	c.214_216delGAA	c.(214-216)gaadel	p.E74del	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	74								p.E72delE(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTAGGAAAGGAAGAAGAAGTAA	0.369																																					p.72_72del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.214_216del	2						.		,,,,	1,4265		0,1,2132					,,,,	0.9	1.0			142	0,8254		0,0,4127	no	intron,intron,intron,intron,coding	ASB3,CHAC2,GPR75-ASB3	NM_145863.2,NM_016115.4,NM_001201965.1,NM_001164165.1,NM_001008708.2	,,,,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,,,,	,,,,		1,12519				53854827	SO:0001651	inframe_deletion	494143	exon3			BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.214_216delGAA	2.37:g.54001327_54001329delGAA	ENSP00000295304:p.Glu74del		53854825	NM_001008708	Q8WVI8	In_Frame_Del	DEL	ENST00000295304.4	37	CCDS33196.1																																																																																				0.369	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708	
MTIF2	4528	broad.mit.edu	37	2	55467250	55467250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:55467250delT	ENST00000263629.4	-	14	2082	c.1767delA	c.(1765-1767)aaafs	p.K589fs	MTIF2_ENST00000394600.3_Frame_Shift_Del_p.K589fs|MTIF2_ENST00000403721.1_Frame_Shift_Del_p.K589fs	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	589					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G590fs*2(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTTTTACTCCTTTTTTTGCAG	0.383																																					p.K589fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1767delA	2						.						63.0	59.0	60.0					2																	55467250		2203	4300	6503	55320754	SO:0001589	frameshift_variant	4528	exon15			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1767delA	2.37:g.55467250delT	ENSP00000263629:p.Lys589fs		55320754	NM_001005369	D6W5D0	Frame_Shift_Del	DEL	ENST00000263629.4	37	CCDS1853.1																																																																																				0.383	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	
SPRED2	200734	broad.mit.edu	37	2	65540827	65540827	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:65540827C>T	ENST00000356388.4	-	6	1254	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	SPRED2_ENST00000443619.2_Silent_p.S352S	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	355	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.S355S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCTCGGGGTCCGACATACAGT	0.607																																					p.S355S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G1065A	2						.						94.0	89.0	90.0					2																	65540827		2203	4300	6503	65394331	SO:0001819	synonymous_variant	200734	exon6			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1065G>A	2.37:g.65540827C>T			65394331	NM_181784	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	CCDS33211.1																																																																																				0.607	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1		
ATP6V1B1	525	broad.mit.edu	37	2	71191899	71191899	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:71191899G>A	ENST00000234396.4	+	13	1355	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A411T|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	428					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.A428T(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGACGTGCAGGCCATGAAGGC	0.597											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A428T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282A	2						.						47.0	47.0	47.0					2																	71191899		2203	4300	6503	71045407	SO:0001583	missense	525	exon13			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1282G>A	2.37:g.71191899G>A	ENSP00000234396:p.Ala428Thr	1128	71045407	NM_001692	Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278205	0.80692	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000433895	T;T;T	0.80480	-1.38;-1.38;-1.38	3.85	2.97	0.34412	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.358993	0.22106	N	0.064558	D	0.89001	0.6591	M	0.88842	2.985	0.58432	D	0.999997	D;B;B	0.55800	0.973;0.411;0.062	D;P;B	0.63113	0.911;0.483;0.183	D	0.89262	0.3598	10	0.72032	D	0.01	-10.3096	10.5797	0.45248	0.0:0.0:0.8059:0.1941	.	403;411;428	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	T	428;403;411;33	ENSP00000234396:A428T;ENSP00000388353:A411T;ENSP00000407840:A33T	ENSP00000234396:A428T	A	+	1	0	ATP6V1B1	71045407	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.788000	0.85771	0.840000	0.34995	-0.385000	0.06624	GCC		0.597	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692	
EXOC6B	23233	broad.mit.edu	37	2	72968545	72968545	+	Missense_Mutation	SNP	C	C	T	rs201814463		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:72968545C>T	ENST00000272427.6	-	2	297	c.167G>A	c.(166-168)cGt>cAt	p.R56H	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R56H	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	56					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.R56L(1)|p.R56H(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						ATTACGGATACGAGTTTCAAG	0.398																																					p.R56H												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G167A	2						.						131.0	124.0	127.0					2																	72968545		1846	4090	5936	72822053	SO:0001583	missense	23233	exon2			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.167G>A	2.37:g.72968545C>T	ENSP00000272427:p.Arg56His		72822053	NM_015189	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870562	0.91587	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99594	-6.25;-6.25	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	L	0.58302	1.8	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72075	0.976;0.958	D	0.99961	1.1733	10	0.15499	T	0.54	.	17.2198	0.86954	0.0:1.0:0.0:0.0	.	56;56	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	H	56	ENSP00000272427:R56H;ENSP00000386698:R56H	ENSP00000272427:R56H	R	-	2	0	EXOC6B	72822053	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.729000	0.84864	2.389000	0.81357	0.561000	0.74099	CGT		0.398	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570	
EMX1	2016	broad.mit.edu	37	2	73160992	73160994	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	AGA	AGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:73160992_73160994delAGA	ENST00000258106.6	+	3	1160_1162	c.782_784delAGA	c.(781-786)cagaag>cag	p.K264del	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	231					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K264delK(1)		cervix(1)|large_intestine(2)|lung(3)	6						GAGTCCGAGCAGAAGAAGAAGGG	0.596																																					p.261_262del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.782_784del	2						.			31,4021		14,3,2009						4.7	1.0			77	33,8053		16,1,4026	no	coding	EMX1	NM_004097.2		30,4,6035	A1A1,A1R,RR		0.4081,0.7651,0.5273				64,12074				73014502	SO:0001651	inframe_deletion	2016	exon3			X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.782_784delAGA	2.37:g.73160998_73161000delAGA	ENSP00000258106:p.Lys264del		73014500	NM_004097	Q0D2P0|Q53T30|Q86XB0	In_Frame_Del	DEL	ENST00000258106.6	37	CCDS1921.2																																																																																				0.596	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3		
SEMA4F	10505	broad.mit.edu	37	2	74902349	74902349	+	Missense_Mutation	SNP	G	G	A	rs183645100	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:74902349G>A	ENST00000357877.2	+	10	1359	c.1210G>A	c.(1210-1212)Gta>Ata	p.V404I	SEMA4F_ENST00000339773.5_Missense_Mutation_p.V249I|SEMA4F_ENST00000473350.1_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	404	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.V404I(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCCTGACCGCGTACTCACCTT	0.547											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		20362	0.002		0.0	False		,,,				2504	0.0				p.V404I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210A	2						.						103.0	94.0	97.0					2																	74902349		2203	4300	6503	74755857	SO:0001583	missense	10505	exon10			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1210G>A	2.37:g.74902349G>A	ENSP00000350547:p.Val404Ile	1156	74755857	NM_004263	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.49	3.635923	0.67130	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.32988	1.43;1.43	5.26	4.32	0.51571	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000006	T	0.48995	0.1531	M	0.64630	1.985	0.28107	N	0.931146	D;D	0.89917	1.0;0.989	D;P	0.75020	0.985;0.88	T	0.38001	-0.9681	10	0.56958	D	0.05	.	11.0147	0.47682	0.0:0.1883:0.8117:0.0	.	249;404	O95754-2;O95754	.;SEM4F_HUMAN	I	404;249	ENSP00000350547:V404I;ENSP00000342675:V249I	ENSP00000342675:V249I	V	+	1	0	SEMA4F	74755857	0.468000	0.25839	0.991000	0.47740	0.909000	0.53808	2.360000	0.44151	2.464000	0.83262	0.453000	0.30009	GTA		0.547	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
CTNNA2	1496	broad.mit.edu	37	2	80136876	80136876	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:80136876G>A	ENST00000402739.4	+	6	1014	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	CTNNA2_ENST00000540488.1_Missense_Mutation_p.A337T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A337T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A337T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A337T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A371T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	337					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.A337T(2)		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						GGAGTGCAACGCCGTGCGGCA	0.602																																					p.A338T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1012A	2						.						44.0	51.0	49.0					2																	80136876		2087	4224	6311	79990387	SO:0001583	missense	1496	exon7				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.1009G>A	2.37:g.80136876G>A	ENSP00000384638:p.Ala337Thr		79990387	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.493427	0.84962	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.6	5.6	0.85130	.	0.066992	0.64402	D	0.000014	T	0.50377	0.1612	M	0.86178	2.8	0.58432	D	0.999991	P;P;P	0.51791	0.948;0.943;0.943	P;P;P	0.49887	0.625;0.559;0.475	T	0.51124	-0.8745	10	0.16420	T	0.52	.	14.4488	0.67370	0.0:0.0:0.8528:0.1472	.	337;337;337	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	337;337;371;337;337;337	ENSP00000418191:A337T;ENSP00000419295:A337T;ENSP00000355398:A371T;ENSP00000384638:A337T;ENSP00000444675:A337T;ENSP00000441705:A337T	ENSP00000355398:A371T	A	+	1	0	CTNNA2	79990387	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.136000	0.50554	2.652000	0.90054	0.591000	0.81541	GCC		0.602	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
IMMT	10989	broad.mit.edu	37	2	86393743	86393743	+	Missense_Mutation	SNP	G	G	T	rs375746081		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:86393743G>T	ENST00000410111.3	-	7	1067	c.680C>A	c.(679-681)gCt>gAt	p.A227D	IMMT_ENST00000449247.2_Missense_Mutation_p.A216D|IMMT_ENST00000254636.5_Missense_Mutation_p.A128D|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Missense_Mutation_p.A180D|IMMT_ENST00000442664.2_Missense_Mutation_p.A226D	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	227					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.A227D(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGCCTCAGAGCATCTTCTAA	0.423																																					p.A226D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C677A	2						.						49.0	46.0	47.0					2																	86393743		1876	4099	5975	86247254	SO:0001583	missense	10989	exon7			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.680C>A	2.37:g.86393743G>T	ENSP00000387262:p.Ala227Asp		86247254	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.579244|4.579244	0.86645|0.86645	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.278796|.	0.40818|.	N|.	0.001013|.	T|.	0.72170|.	0.3427|.	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999993|0.999993	P;P;D;D;D;P;P;P;D|.	0.76494|.	0.948;0.754;0.958;0.999;0.996;0.682;0.948;0.682;0.958|.	P;P;P;D;D;P;P;P;P|.	0.76575|.	0.747;0.635;0.836;0.988;0.969;0.549;0.747;0.549;0.836|.	T|.	0.69335|.	-0.5172|.	10|.	0.33141|.	T|.	0.24|.	-11.2652|-11.2652	18.2373|18.2373	0.89954|0.89954	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	216;180;215;224;215;195;216;195;227|.	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;.;.;.;.;IMMT_HUMAN|.	D|X	128;216;227;226;180;216;195;215;149|81	ENSP00000254636:A128D;ENSP00000396899:A216D;ENSP00000387262:A227D;ENSP00000407788:A226D;ENSP00000387227:A180D|.	ENSP00000254636:A128D|.	A|C	-|-	2|3	0|2	IMMT|IMMT	86247254|86247254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.473000|7.473000	0.81007|0.81007	2.674000|2.674000	0.91012|0.91012	0.643000|0.643000	0.83706|0.83706	GCT|TGC		0.423	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
KDM3A	55818	broad.mit.edu	37	2	86691325	86691325	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:86691325delA	ENST00000409556.1	+	10	1358	c.993delA	c.(991-993)gcafs	p.A331fs	KDM3A_ENST00000409064.1_Frame_Shift_Del_p.A331fs|KDM3A_ENST00000312912.5_Frame_Shift_Del_p.A331fs|KDM3A_ENST00000542128.1_Frame_Shift_Del_p.A279fs			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	331					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.I333fs*18(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACCTTGGAGCAAAAATTCCTC	0.413																																					p.A331fs	NSCLC(96;1150 1523 6936 46253 49736)											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.993delA	2						.						63.0	60.0	61.0					2																	86691325		2203	4299	6502	86544836	SO:0001589	frameshift_variant	55818	exon9			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.993delA	2.37:g.86691325delA	ENSP00000386660:p.Ala331fs		86544836	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Frame_Shift_Del	DEL	ENST00000409556.1	37	CCDS1990.1																																																																																				0.413	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433	
EIF2AK3	9451	broad.mit.edu	37	2	88879075	88879075	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:88879075T>A	ENST00000303236.3	-	11	2148	c.1847A>T	c.(1846-1848)gAc>gTc	p.D616V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D465V	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.D616V(1)		ovary(3)	3						ATAATTGCAGTCATCTACTTT	0.388																																					p.D616V	GBM(138;671 1851 16235 39058 45249)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1847T	2						.						158.0	151.0	153.0					2																	88879075		2203	4300	6503	88660190	SO:0001583	missense	9451	exon11			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1847A>T	2.37:g.88879075T>A	ENSP00000307235:p.Asp616Val		88660190	NM_004836	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.871063	0.91587	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.21543	2.0;2.0;2.0	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096449	0.64402	D	0.000001	T	0.41166	0.1147	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.16988	-1.0384	10	0.72032	D	0.01	-26.2391	15.1804	0.72952	0.0:0.0:0.0:1.0	.	616	Q9NZJ5	E2AK3_HUMAN	V	465;616;465;495	ENSP00000408325:D465V;ENSP00000307235:D616V;ENSP00000412076:D495V	ENSP00000307235:D616V	D	-	2	0	EIF2AK3	88660190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.946000	0.87746	2.324000	0.78689	0.533000	0.62120	GAC		0.388	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	
CNNM4	26504	broad.mit.edu	37	2	97428087	97428087	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:97428087T>G	ENST00000377075.2	+	1	1449	c.1351T>G	c.(1351-1353)Ttt>Gtt	p.F451V		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	451	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.F451V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCCGGTGCACTTTGTCTTCCA	0.493																																					p.F451V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1351G	2						.						110.0	105.0	107.0					2																	97428087		2203	4300	6503	96791814	SO:0001583	missense	26504	exon1			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1351T>G	2.37:g.97428087T>G	ENSP00000366275:p.Phe451Val		96791814	NM_020184	B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962560	0.74016	.	.	ENSG00000158158	ENST00000377075	D	0.92911	-3.13	5.26	5.26	0.73747	Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	D	0.93802	0.8018	M	0.70108	2.13	0.80722	D	1	P	0.50156	0.932	P	0.52758	0.708	D	0.94354	0.7582	10	0.72032	D	0.01	-0.8694	14.1805	0.65572	0.0:0.0:0.0:1.0	.	451	Q6P4Q7	CNNM4_HUMAN	V	451	ENSP00000366275:F451V	ENSP00000366275:F451V	F	+	1	0	CNNM4	96791814	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	4.333000	0.59285	1.996000	0.58369	0.533000	0.62120	TTT		0.493	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184	
ZAP70	7535	broad.mit.edu	37	2	98341565	98341565	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:98341565T>C	ENST00000264972.5	+	4	628	c.413T>C	c.(412-414)cTg>cCg	p.L138P	ZAP70_ENST00000442208.1_Missense_Mutation_p.L12P|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	138	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L138P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGAGGCCCTGGAGCAGGCC	0.657																																					p.L138P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T413C	2						.						32.0	32.0	32.0					2																	98341565		2203	4300	6503	97707997	SO:0001583	missense	7535	exon4			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.413T>C	2.37:g.98341565T>C	ENSP00000264972:p.Leu138Pro		97707997	NM_001079	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287547	0.80803	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	T;T	0.74315	-0.83;-0.81	5.21	5.21	0.72293	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.000000	0.37348	N	0.002134	D	0.82664	0.5086	L	0.54323	1.7	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	0.84297	0.0503	10	0.72032	D	0.01	.	13.3316	0.60490	0.0:0.0:0.0:1.0	.	138;12;138	B4E0E2;P43403-3;P43403	.;.;ZAP70_HUMAN	P	138;12	ENSP00000264972:L138P;ENSP00000411141:L12P	ENSP00000264972:L138P	L	+	2	0	ZAP70	97707997	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.698000	0.84413	2.104000	0.64026	0.383000	0.25322	CTG		0.657	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
MITD1	129531	broad.mit.edu	37	2	99797393	99797393	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:99797393C>T	ENST00000289359.2	-	1	128	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	C2orf15_ENST00000512183.2_5'Flank|MRPL30_ENST00000409145.1_5'Flank|MRPL30_ENST00000410042.1_Intron|MRPL30_ENST00000338148.3_5'Flank|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	18	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.V18M(1)		large_intestine(3)|lung(2)|ovary(1)	6						CGCTTTAGCACAGTGGCTGCA	0.572																																					p.V18M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	2						.						61.0	58.0	59.0					2																	99797393		2203	4300	6503	99163825	SO:0001583	missense	129531	exon1			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.52G>A	2.37:g.99797393C>T	ENSP00000289359:p.Val18Met		99163825	NM_138798	Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590560	0.66219	.	.	ENSG00000158411	ENST00000289359;ENST00000409107	T;T	0.70749	-0.51;-0.51	5.49	-1.42	0.08913	MIT (2);	0.491112	0.22107	N	0.064538	T	0.66829	0.2829	M	0.76574	2.34	0.33364	D	0.572746	P	0.49358	0.923	P	0.45377	0.478	T	0.70594	-0.4829	10	0.52906	T	0.07	.	6.685	0.23140	0.0:0.4239:0.1298:0.4462	.	18	Q8WV92	MITD1_HUMAN	M	18	ENSP00000289359:V18M;ENSP00000387316:V18M	ENSP00000289359:V18M	V	-	1	0	MITD1	99163825	0.267000	0.24122	0.000000	0.03702	0.004000	0.04260	0.686000	0.25392	-0.148000	0.11234	-0.152000	0.13540	GTG		0.572	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798	
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																					p.328_329del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.984_985del	2						.																																			113133079	SO:0001589	frameshift_variant	6574	exon7				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs		113133078	NM_005415	Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415	
ACVR2A	92	broad.mit.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aaafs	p.K437fs	ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368																																					p.K435fs												.	.	3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)	c.1303delA	2						.						156.0	129.0	138.0					2																	148683686		2203	4299	6502	148400156	SO:0001589	frameshift_variant	92	exon10				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1303delA	2.37:g.148683686delA	ENSP00000241416:p.Lys437fs		148400156	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	ENST00000241416.7	37	CCDS33301.1																																																																																				0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
LY75	4065	broad.mit.edu	37	2	160673462	160673462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:160673462delT	ENST00000263636.4	-	30	4262	c.4235delA	c.(4234-4236)aagfs	p.K1412fs	LY75_ENST00000554112.1_Frame_Shift_Del_p.K1412fs|LY75_ENST00000553424.1_Frame_Shift_Del_p.K1412fs|LY75-CD302_ENST00000504764.1_Frame_Shift_Del_p.K1412fs|LY75-CD302_ENST00000505052.1_Frame_Shift_Del_p.K1412fs	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1412	C-type lectin 9. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.K1412fs*2(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCATGTTACCTTTTTTTGAAT	0.348																																					p.K1412fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4235delA	2						.						122.0	120.0	120.0					2																	160673462		2203	4300	6503	160381708	SO:0001589	frameshift_variant	4065	exon30			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4235delA	2.37:g.160673462delT	ENSP00000263636:p.Lys1412fs		160381708	NM_001198760	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Frame_Shift_Del	DEL	ENST00000263636.4	37	CCDS2211.1																																																																																				0.348	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
DNAH7	56171	broad.mit.edu	37	2	196640701	196640701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:196640701delT	ENST00000312428.6	-	60	11171	c.11071delA	c.(11071-11073)agcfs	p.S3691fs	DNAH7_ENST00000409063.1_Frame_Shift_Del_p.S174fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3691					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.S3691fs*11(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						TCGATGTAGCTTTTGTGCTGC	0.393																																					p.S3691fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.11071delA	2						.						140.0	130.0	133.0					2																	196640701		1908	4128	6036	196348946	SO:0001589	frameshift_variant	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.11071delA	2.37:g.196640701delT	ENSP00000311273:p.Ser3691fs		196348946	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	CCDS42794.1																																																																																				0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
MAP2	4133	broad.mit.edu	37	2	210561667	210561667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:210561667delA	ENST00000360351.4	+	9	4920	c.4414delA	c.(4414-4416)aaafs	p.K1473fs	MAP2_ENST00000475600.1_Intron|MAP2_ENST00000447185.1_Frame_Shift_Del_p.K1469fs|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1473					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGAACTTGCTAAAAAAACAGA	0.368																																					p.K1472fs	Pancreas(27;423 979 28787 29963)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4414delA	2						.						47.0	49.0	48.0					2																	210561667		2203	4300	6503	210269912	SO:0001589	frameshift_variant	4133	exon9				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4414delA	2.37:g.210561667delA	ENSP00000353508:p.Lys1473fs		210269912	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Del	DEL	ENST00000360351.4	37	CCDS2384.1																																																																																				0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
LRRFIP1	9208	broad.mit.edu	37	2	238628209	238628209	+	Splice_Site	SNP	C	C	T	rs201221434		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr2:238628209C>T	ENST00000392000.4	+	3	314	c.197C>T	c.(196-198)tCg>tTg	p.S66L	LRRFIP1_ENST00000308482.9_Splice_Site_p.S98L|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Splice_Site_p.S66L	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	66					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.S66L(2)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAAACACATCGGTTAGTACC	0.373																																					p.S66L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C197T	2						.	C	LEU/SER,,LEU/SER,,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	111.0	105.0	107.0		293,,197,,197	4.6	0.9	2		107	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice,intron,missense-near-splice,intron,missense-near-splice	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	145,,145,,145	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,,benign,,benign	98/641,,66/809,,66/785	238628209	3,13003	2203	4300	6503	238292948	SO:0001630	splice_region_variant	9208	exon3			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.198+1C>T	2.37:g.238628209C>T			238292948	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068915	0.76301	2.27E-4	2.33E-4	ENSG00000124831	ENST00000308482;ENST00000391999;ENST00000244815;ENST00000420665;ENST00000392000	T;T;T	0.55588	0.51;2.9;2.83	5.48	4.6	0.57074	.	0.429137	0.21011	N	0.081681	T	0.46776	0.1410	L	0.54323	1.7	0.36236	D	0.852974	P;D;B	0.54772	0.873;0.968;0.008	B;B;B	0.42798	0.284;0.398;0.008	T	0.54918	-0.8221	10	0.29301	T	0.29	-4.4906	10.1777	0.42948	0.0:0.9088:0.0:0.0912	.	66;66;98	Q32MZ4;Q32MZ4-2;E9PGZ2	LRRF1_HUMAN;.;.	L	98;88;66;66;66	ENSP00000310109:S98L;ENSP00000244815:S66L;ENSP00000375857:S66L	ENSP00000244815:S66L	S	+	2	0	LRRFIP1	238292948	1.000000	0.71417	0.927000	0.36925	0.898000	0.52572	4.953000	0.63624	1.307000	0.44944	0.655000	0.94253	TCG		0.373	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	Missense_Mutation
CADPS	8618	broad.mit.edu	37	3	62463974	62463975	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:62463974_62463975insT	ENST00000383710.4	-	23	3639_3640	c.3290_3291insA	c.(3289-3291)aagfs	p.K1097fs	CADPS_ENST00000357948.3_Frame_Shift_Ins_p.K1018fs|CADPS_ENST00000283269.9_Frame_Shift_Ins_p.K1058fs	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1097	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.L1098fs*5(1)|p.L1059fs*5(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGCCATCAACTTCAGCCGTTG	0.495																																					p.K1058fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.3174_3175insA	3						.																																			62439015	SO:0001589	frameshift_variant	8618	exon21			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3291dupA	3.37:g.62463976_62463976dupT	ENSP00000373215:p.Lys1097fs		62439014	NM_183394	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Frame_Shift_Ins	INS	ENST00000383710.4	37	CCDS46858.1																																																																																				0.495	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
TATDN2	9797	broad.mit.edu	37	3	10312274	10312274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:10312274C>T	ENST00000287652.4	+	4	2459	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.P470S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	470					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.P470S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGAGGAGATGCCTCCGCGTCC	0.532																																					p.P470S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1408T	3						.						63.0	58.0	60.0					3																	10312274		2203	4300	6503	10287274	SO:0001583	missense	9797	exon4			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1408C>T	3.37:g.10312274C>T	ENSP00000287652:p.Pro470Ser		10287274	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974253	0.18736	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.31769	1.48;1.48	4.58	2.59	0.31030	.	0.806783	0.10266	N	0.695393	T	0.29817	0.0745	L	0.50333	1.59	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.28267	-1.0049	10	0.72032	D	0.01	-1.4212	10.5604	0.45142	0.0:0.584:0.416:0.0	.	470	Q93075	TATD2_HUMAN	S	470	ENSP00000287652:P470S;ENSP00000408736:P470S	ENSP00000287652:P470S	P	+	1	0	TATDN2	10287274	0.000000	0.05858	0.003000	0.11579	0.276000	0.26787	0.075000	0.14686	1.231000	0.43661	0.644000	0.83932	CCT		0.532	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
ZBTB11	27107	broad.mit.edu	37	3	101383435	101383435	+	Missense_Mutation	SNP	C	C	T	rs76876070	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:101383435C>T	ENST00000312938.4	-	5	2327	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	583					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.A583T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTATAAGGGCGTATCGTCTC	0.348													C|||	2	0.000399361	0.0	0.0	5008	,	,		18876	0.001		0.0	False		,,,				2504	0.001				p.A583T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1747A	3						.	C	THR/ALA	0,4404		0,0,2202	240.0	228.0	232.0		1747	4.8	1.0	3	dbSNP_131	232	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZBTB11	NM_014415.3	58	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	benign	583/1054	101383435	3,13001	2202	4300	6502	102866125	SO:0001583	missense	27107	exon5			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1747G>A	3.37:g.101383435C>T	ENSP00000326200:p.Ala583Thr		102866125	NM_014415	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.13	2.144036	0.37825	0.0	3.49E-4	ENSG00000066422	ENST00000312938	T	0.50548	0.74	5.69	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.117084	0.64402	N	0.000012	T	0.37046	0.0989	L	0.31065	0.9	0.80722	D	1	B	0.22800	0.075	B	0.23852	0.049	T	0.11567	-1.0582	10	0.33141	T	0.24	-4.7257	13.437	0.61090	0.0:0.9186:0.0:0.0814	.	583	O95625	ZBT11_HUMAN	T	583	ENSP00000326200:A583T	ENSP00000326200:A583T	A	-	1	0	ZBTB11	102866125	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	2.923000	0.48868	1.272000	0.44329	0.655000	0.94253	GCC		0.348	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	
RPL24	6152	broad.mit.edu	37	3	101400055	101400055	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:101400055G>T	ENST00000394077.3	-	6	503	c.398C>A	c.(397-399)cCt>cAt	p.P133H	RPL24_ENST00000495401.1_Missense_Mutation_p.L112I|ZBTB11-AS1_ENST00000609682.1_RNA	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	133					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P133H(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						TGCCTTTGTAGGTGCCTGTAA	0.378																																					p.P133H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398A	3						.						94.0	102.0	99.0					3																	101400055		2203	4300	6503	102882745	SO:0001583	missense	6152	exon6			AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"""L ribosomal proteins"""	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.398C>A	3.37:g.101400055G>T	ENSP00000377640:p.Pro133His		102882745	NM_000986	B2R4Y3|P38663|Q6IBS3	Missense_Mutation	SNP	ENST00000394077.3	37	CCDS33809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.753049|1.753049	0.31046|0.31046	.|.	.|.	ENSG00000114391|ENSG00000114391	ENST00000495401|ENST00000394077	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.064498	.|0.64402	.|U	.|0.000006	T|T	0.65585|0.65585	0.2705|0.2705	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B|B	0.13145|0.33448	0.007|0.412	B|B	0.04013|0.40101	0.001|0.319	T|T	0.67284|0.67284	-0.5709|-0.5709	8|9	0.12766|0.72032	T|D	0.61|0.01	.|.	19.4604|19.4604	0.94915|0.94915	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	112|133	C9JXB8|P83731	.|RL24_HUMAN	I|H	112|133	.|.	ENSP00000419179:L112I|ENSP00000377640:P133H	L|P	-|-	1|2	2|0	RPL24|RPL24	102882745|102882745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.413000|9.413000	0.97351|0.97351	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.378	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1	NM_000986	
BBX	56987	broad.mit.edu	37	3	107517461	107517461	+	Silent	SNP	G	G	A	rs150447882		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:107517461G>A	ENST00000325805.8	+	16	2732	c.2445G>A	c.(2443-2445)acG>acA	p.T815T	BBX_ENST00000415149.2_Silent_p.T785T|BBX_ENST00000402543.1_Silent_p.T765T|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000416476.2_Missense_Mutation_p.R479H|BBX_ENST00000406780.1_Silent_p.T785T			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	815					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T785T(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAACAACAACGCAAGAACCTT	0.448																																					p.T815T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2445A	3						.	G	,	1,4405	2.1+/-5.4	0,1,2202	96.0	93.0	94.0		2445,2355	-3.3	0.0	3	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BBX	NM_001142568.1,NM_020235.5	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	815/942,785/912	107517461	1,13005	2203	4300	6503	109000151	SO:0001819	synonymous_variant	56987	exon16			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2445G>A	3.37:g.107517461G>A			109000151	NM_001142568	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.038|1.038	-0.679757|-0.679757	0.03353|0.03353	2.27E-4|2.27E-4	0.0|0.0	ENSG00000114439|ENSG00000114439	ENST00000443253|ENST00000416476	.|D	.|0.99080	.|-5.4	5.96|5.96	-3.33|-3.33	0.04958|0.04958	.|.	.|.	.|.	.|.	.|.	D|D	0.96259|0.96259	0.8780|0.8780	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	D|D	0.86316|0.86316	0.1689|0.1689	4|8	.|0.87932	.|D	.|0	1.3093|1.3093	4.7281|4.7281	0.12950|0.12950	0.3494:0.0:0.2541:0.3965|0.3494:0.0:0.2541:0.3965	.|.	.|96;479	.|Q9NRU5;A2RRM7	.|.;.	T|H	61|479	.|ENSP00000403860:R479H	.|ENSP00000403860:R479H	A|R	+|+	1|2	0|0	BBX|BBX	109000151|109000151	0.017000|0.017000	0.18338|0.18338	0.009000|0.009000	0.14445|0.14445	0.525000|0.525000	0.34531|0.34531	0.048000|0.048000	0.14078|0.14078	-0.762000|-0.762000	0.04664|0.04664	-1.311000|-1.311000	0.01308|0.01308	GCA|CGC		0.448	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	
ATG7	10533	broad.mit.edu	37	3	11421484	11421484	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:11421484C>T	ENST00000354449.3	+	17	1939	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	ATG7_ENST00000446450.2_Silent_p.P599P|ATG7_ENST00000354956.5_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	638					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.P638P(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ATGTCCTTCCCGTCAGCCTGG	0.393																																					p.P638P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C1914T	3						.						150.0	144.0	146.0					3																	11421484		2203	4300	6503	11396484	SO:0001819	synonymous_variant	10533	exon17			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1914C>T	3.37:g.11421484C>T			11396484	NM_006395	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	CCDS2605.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.10|10.10	1.258148|1.258148	0.23051|0.23051	.|.	.|.	ENSG00000197548|ENSG00000197548	ENST00000427759|ENST00000446110	.|.	.|.	.|.	6.17|6.17	-2.44|-2.44	0.06502|0.06502	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48714|0.48714	0.1515|0.1515	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43278|0.43278	-0.9401|-0.9401	6|4	0.02654|.	T|.	1|.	-16.7127|-16.7127	5.7876|5.7876	0.18343|0.18343	0.2134:0.3981:0.0:0.3884|0.2134:0.3981:0.0:0.3884	.|.	.|.	.|.	.|.	L|C	39|39	.|.	ENSP00000388295:P39L|.	P|R	+|+	2|1	0|0	ATG7|ATG7	11396484|11396484	0.984000|0.984000	0.35163|0.35163	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	0.045000|0.045000	0.14013|0.14013	-0.085000|-0.085000	0.12573|0.12573	-0.302000|-0.302000	0.09304|0.09304	CCG|CGT		0.393	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395	
DZIP3	9666	broad.mit.edu	37	3	108373053	108373053	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:108373053A>G	ENST00000361582.3	+	19	2325	c.2095A>G	c.(2095-2097)Agt>Ggt	p.S699G	DZIP3_ENST00000463306.1_Missense_Mutation_p.S699G	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	699					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S699G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACACTCAGTCAGTAGACTTAT	0.388																																					p.S699G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2095G	3						.						160.0	141.0	148.0					3																	108373053		2203	4300	6503	109855743	SO:0001583	missense	9666	exon19			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2095A>G	3.37:g.108373053A>G	ENSP00000355028:p.Ser699Gly		109855743	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351742	0.24512	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.31510	1.49;1.49	4.57	-0.708	0.11241	.	0.369646	0.23429	N	0.048267	T	0.18593	0.0446	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12941	-1.0528	10	0.29301	T	0.29	0.3283	3.2705	0.06880	0.5435:0.0:0.2841:0.1724	.	317;699	D3DN61;Q86Y13	.;DZIP3_HUMAN	G	699	ENSP00000355028:S699G;ENSP00000419981:S699G	ENSP00000355028:S699G	S	+	1	0	DZIP3	109855743	0.000000	0.05858	0.001000	0.08648	0.192000	0.23643	0.115000	0.15540	-0.280000	0.09154	-0.386000	0.06593	AGT		0.388	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
CD200R1L	344807	broad.mit.edu	37	3	112546475	112546475	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:112546475T>C	ENST00000398214.1	-	3	394	c.169A>G	c.(169-171)Atc>Gtc	p.I57V	CD200R1L_ENST00000488794.1_Missense_Mutation_p.I36V|CD200R1L_ENST00000448932.1_Missense_Mutation_p.I36V	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	57	Ig-like V-type.					integral component of membrane (GO:0016021)		p.I57V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTTAATGCGATAGGAGGGCAA	0.388																																					p.I57V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A169G	3						.						125.0	117.0	120.0					3																	112546475		2203	4300	6503	114029165	SO:0001583	missense	344807	exon3			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.169A>G	3.37:g.112546475T>C	ENSP00000381272:p.Ile57Val		114029165	NM_001008784	Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	0.137	-1.106833	0.01813	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.09163	3.01;3.01;3.01	3.82	-7.64	0.01286	.	1.791590	0.02519	N	0.092371	T	0.05914	0.0154	N	0.25201	0.72	0.09310	N	1	B	0.24768	0.111	B	0.19666	0.026	T	0.29852	-0.9998	10	0.13470	T	0.59	.	7.0443	0.25037	0.0:0.5136:0.2747:0.2117	.	57	Q6Q8B3	MO2R2_HUMAN	V	57;36;36	ENSP00000381272:I57V;ENSP00000418413:I36V;ENSP00000415132:I36V	ENSP00000381272:I57V	I	-	1	0	CD200R1L	114029165	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.145000	0.00584	-1.301000	0.02338	0.459000	0.35465	ATC		0.388	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	
CFAP44	55779	broad.mit.edu	37	3	113152498	113152498	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:113152498T>A	ENST00000295868.2	-	2	176	c.14A>T	c.(13-15)gAt>gTt	p.D5V	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.D5V	NM_018338.3	NP_060808.2												p.D5V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCCTGATCATCTGGTTCCTT	0.358																																					p.D5V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A14T	3						.						137.0	133.0	135.0					3																	113152498		2203	4300	6503	114635188	SO:0001583	missense	55779	exon2																														ENST00000295868.2:c.14A>T	3.37:g.113152498T>A	ENSP00000295868:p.Asp5Val		114635188	NM_001164496		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948903	0.53186	.	.	ENSG00000206530	ENST00000393845;ENST00000295868;ENST00000473143	T;T;T	0.61392	2.49;0.54;0.11	3.72	1.35	0.21983	.	.	.	.	.	T	0.46190	0.1380	L	0.34521	1.04	0.80722	D	1	P	0.48694	0.914	P	0.46144	0.505	T	0.39375	-0.9617	9	0.72032	D	0.01	.	5.2999	0.15772	0.0:0.2381:0.0:0.7619	.	5	Q96MT7	WDR52_HUMAN	V	5	ENSP00000377428:D5V;ENSP00000295868:D5V;ENSP00000419671:D5V	ENSP00000295868:D5V	D	-	2	0	WDR52	114635188	0.999000	0.42202	0.996000	0.52242	0.986000	0.74619	0.988000	0.29616	0.295000	0.22570	-0.256000	0.11100	GAT		0.358	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		
ZBTB20	26137	broad.mit.edu	37	3	114058037	114058037	+	Missense_Mutation	SNP	C	C	T	rs149518419		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:114058037C>T	ENST00000474710.1	-	5	2219	c.2041G>A	c.(2041-2043)Gtg>Atg	p.V681M	ZBTB20_ENST00000464560.1_Missense_Mutation_p.V608M|ZBTB20_ENST00000462705.1_Missense_Mutation_p.V608M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V608M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V608M|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V608M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V608M	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	681						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 negative regulation of transcription (GO:0001078)	p.V608M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGCAGGGCCACGTGTCGCTCC	0.657																																					p.V608M	NSCLC(69;748 1344 9802 11203 30933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1822A	3						.						103.0	94.0	98.0					3																	114058037		2203	4300	6503	115540727	SO:0001583	missense	26137	exon12			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2041G>A	3.37:g.114058037C>T	ENSP00000419153:p.Val681Met		115540727	NM_001164343	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.834059	0.16820	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.051889	0.85682	D	0.000000	T	0.27559	0.0677	N	0.12182	0.205	0.52099	D	0.999948	B	0.31209	0.313	B	0.14578	0.011	T	0.04870	-1.0921	10	0.27785	T	0.31	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	681	Q9HC78	ZBT20_HUMAN	M	608;608;608;608;681;608;608	ENSP00000420324:V608M;ENSP00000377375:V608M;ENSP00000418092:V608M;ENSP00000419902:V608M;ENSP00000419153:V681M;ENSP00000349803:V608M;ENSP00000417307:V608M	ENSP00000349803:V608M	V	-	1	0	ZBTB20	115540727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	2.941000	0.99782	0.655000	0.94253	GTG		0.657	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642	
FSTL1	11167	broad.mit.edu	37	3	120123725	120123725	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:120123725C>A	ENST00000295633.3	-	7	912	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	FSTL1_ENST00000424703.2_Missense_Mutation_p.D151Y	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	186					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D186Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TTCTCCTGGTCTGGATACGTT	0.443																																					p.D186Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556T	3						.						270.0	250.0	257.0					3																	120123725		2203	4300	6503	121606415	SO:0001583	missense	11167	exon7			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.556G>T	3.37:g.120123725C>A	ENSP00000295633:p.Asp186Tyr		121606415	NM_007085	A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	ENST00000295633.3	37	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020381	0.75275	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.08458	3.09;3.09	6.06	2.86	0.33363	EF-hand-like domain (1);	0.250440	0.46145	D	0.000318	T	0.13286	0.0322	M	0.64997	1.995	0.50171	D	0.999853	D;P	0.54207	0.965;0.925	P;P	0.48030	0.564;0.541	T	0.02917	-1.1094	10	0.44086	T	0.13	-29.4663	10.7718	0.46327	0.0:0.7638:0.0:0.2362	.	151;186	B4DTT5;Q12841	.;FSTL1_HUMAN	Y	186;129;151	ENSP00000295633:D186Y;ENSP00000394355:D151Y	ENSP00000295633:D186Y	D	-	1	0	FSTL1	121606415	0.999000	0.42202	0.985000	0.45067	0.991000	0.79684	3.308000	0.51896	0.872000	0.35775	0.655000	0.94253	GAC		0.443	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085	
POLQ	10721	broad.mit.edu	37	3	121178981	121178981	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:121178981A>G	ENST00000264233.5	-	25	7196	c.7068T>C	c.(7066-7068)gcT>gcC	p.A2356A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2356					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.A2491A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGAAAACATCAGCTCCAGTGT	0.463								DNA polymerases (catalytic subunits)																													p.A2356A	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T7068C	3						.						150.0	132.0	138.0					3																	121178981		2203	4300	6503	122661671	SO:0001819	synonymous_variant	10721	exon25			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7068T>C	3.37:g.121178981A>G			122661671	NM_199420	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.463	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
ILDR1	286676	broad.mit.edu	37	3	121712109	121712109	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:121712109C>T	ENST00000344209.5	-	7	1613	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000273691.3_Missense_Mutation_p.R452H|ILDR1_ENST00000393631.1_Missense_Mutation_p.R407H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R464H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	496					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.R496H(1)|p.R452H(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)		CGAGCCGCGGCGGTGGGCCCG	0.637																																					p.R452H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1355A	3						.						19.0	21.0	21.0					3																	121712109		2201	4296	6497	123194799	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.1487G>A	3.37:g.121712109C>T	ENSP00000345667:p.Arg496His		123194799	NM_175924	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737671	0.03111	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.80909	-0.73;-0.71;-1.43;-0.3	4.38	-2.18	0.07037	.	0.665977	0.12494	N	0.464005	T	0.60728	0.2291	N	0.13043	0.29	0.18873	N	0.999987	B;B;B;B	0.12013	0.003;0.002;0.003;0.005	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.48614	-0.9020	10	0.59425	D	0.04	-9.9973	6.3034	0.21125	0.0:0.2715:0.4706:0.2579	.	407;496;452;464	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	H	452;496;407;464	ENSP00000273691:R452H;ENSP00000345667:R496H;ENSP00000377251:R407H;ENSP00000419414:R464H	ENSP00000273691:R452H	R	-	2	0	ILDR1	123194799	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.407000	0.07178	-0.460000	0.07003	-0.216000	0.12614	CGC		0.637	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
KALRN	8997	broad.mit.edu	37	3	124415065	124415065	+	Silent	SNP	C	C	T	rs199791998		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:124415065C>T	ENST00000291478.5	+	21	2734	c.2571C>T	c.(2569-2571)caC>caT	p.H857H	KALRN_ENST00000428018.2_Silent_p.H825H|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Silent_p.H2554H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2553					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H857H(1)|p.H2554H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAATGACCACGGGACCACAT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18520	0.0		0.001	False		,,,				2504	0.0				p.H2554H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7662T	3						.						127.0	122.0	124.0					3																	124415065		2203	4300	6503	125897755	SO:0001819	synonymous_variant	8997	exon54			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2571C>T	3.37:g.124415065C>T			125897755	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.502	0.460875	0.12342	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.71	-2.75	0.05914	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37934	-0.9684	4	.	.	.	.	5.434	0.16469	0.0896:0.3118:0.088:0.5106	.	.	.	.	M	2523	.	.	T	+	2	0	KALRN	125897755	0.000000	0.05858	0.783000	0.31826	0.890000	0.51754	-3.236000	0.00546	-0.637000	0.05516	-0.150000	0.13652	ACG		0.413	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
KALRN	8997	broad.mit.edu	37	3	124416493	124416493	+	Missense_Mutation	SNP	G	G	A	rs373744782		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:124416493G>A	ENST00000291478.5	+	22	2825	c.2662G>A	c.(2662-2664)Gtg>Atg	p.V888M	KALRN_ENST00000428018.2_Missense_Mutation_p.V856M|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Missense_Mutation_p.V2585M	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2584					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V2585M(1)|p.V888M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCACCTCCGTGATTCTCCG	0.542																																					p.V2585M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7753A	3						.						53.0	52.0	52.0					3																	124416493		2203	4300	6503	125899183	SO:0001583	missense	8997	exon55			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2662G>A	3.37:g.124416493G>A	ENSP00000291478:p.Val888Met		125899183	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678236	0.88542	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.59772	0.24;0.24;0.24	4.86	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000062	T	0.78104	0.4231	M	0.80982	2.52	0.43657	D	0.996078	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	T	0.81413	-0.0944	10	0.66056	D	0.02	.	18.3671	0.90394	0.0:0.0:1.0:0.0	.	888;2584	C9JQ37;O60229	.;KALRN_HUMAN	M	2585;888;856	ENSP00000353109:V2585M;ENSP00000291478:V888M;ENSP00000402419:V856M	ENSP00000291478:V888M	V	+	1	0	KALRN	125899183	1.000000	0.71417	0.899000	0.35326	0.872000	0.50106	8.817000	0.91985	2.410000	0.81850	0.561000	0.74099	GTG		0.542	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
OSBPL11	114885	broad.mit.edu	37	3	125266323	125266323	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:125266323T>C	ENST00000296220.5	-	10	2057	c.1768A>G	c.(1768-1770)Aac>Gac	p.N590D		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	590					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.N590D(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTTGCACAGTTGACACTGACT	0.418																																					p.N590D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1768G	3						.						151.0	138.0	143.0					3																	125266323		2203	4300	6503	126749013	SO:0001583	missense	114885	exon10			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1768A>G	3.37:g.125266323T>C	ENSP00000296220:p.Asn590Asp		126749013	NM_022776	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460139	0.63401	.	.	ENSG00000144909	ENST00000296220	T	0.29142	1.58	4.86	4.86	0.63082	.	0.101790	0.64402	D	0.000004	T	0.25382	0.0617	L	0.52266	1.64	0.47094	D	0.99931	P	0.39717	0.684	B	0.34536	0.185	T	0.05305	-1.0893	10	0.13108	T	0.6	-14.1046	14.6126	0.68526	0.0:0.0:0.0:1.0	.	590	Q9BXB4	OSB11_HUMAN	D	590	ENSP00000296220:N590D	ENSP00000296220:N590D	N	-	1	0	OSBPL11	126749013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.133000	0.50531	2.042000	0.60477	0.383000	0.25322	AAC		0.418	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
DNAJB8	165721	broad.mit.edu	37	3	128181739	128181739	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:128181739C>A	ENST00000469083.1	-	2	2907	c.350G>T	c.(349-351)aGc>aTc	p.S117I	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.S117I			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	117					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		ATTGAATGGGCTGTCCCAGAA	0.592																																					p.S117I												.	.	0			c.G350T	3						.						53.0	55.0	54.0					3																	128181739		2203	4300	6503	129664429	SO:0001583	missense	165721	exon3				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.350G>T	3.37:g.128181739C>A	ENSP00000417418:p.Ser117Ile		129664429	NM_153330	B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	4.181	0.032265	0.08101	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73897	-0.79;-0.79	4.59	-6.86	0.01676	.	.	.	.	.	T	0.56411	0.1983	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43393	-0.9394	9	0.48119	T	0.1	.	3.4847	0.07615	0.0897:0.2675:0.1252:0.5176	.	117	Q8NHS0	DNJB8_HUMAN	I	117	ENSP00000417418:S117I;ENSP00000316053:S117I	ENSP00000316053:S117I	S	-	2	0	DNAJB8	129664429	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.587000	0.00902	-1.354000	0.02188	-0.311000	0.09066	AGC		0.592	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330	
PLXND1	23129	broad.mit.edu	37	3	129284250	129284250	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:129284250C>T	ENST00000324093.4	-	25	4632	c.4454G>A	c.(4453-4455)cGc>cAc	p.R1485H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1485H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1485					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1485H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGACTCTGTGCGCCGCAGCAT	0.602																																					p.R1485H	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4454A	3						.						115.0	102.0	106.0					3																	129284250		2203	4300	6503	130766940	SO:0001583	missense	23129	exon25			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4454G>A	3.37:g.129284250C>T	ENSP00000317128:p.Arg1485His		130766940	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537357	0.65085	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.17213	2.29;2.29	4.96	4.09	0.47781	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.300750	0.30620	N	0.009222	T	0.44582	0.1300	M	0.82823	2.61	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	T	0.50608	-0.8808	10	0.87932	D	0	.	13.4503	0.61167	0.0:0.9239:0.0:0.0761	.	80;1485	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	H	1485	ENSP00000317128:R1485H;ENSP00000376931:R1485H	ENSP00000317128:R1485H	R	-	2	0	PLXND1	130766940	0.999000	0.42202	1.000000	0.80357	0.257000	0.26127	7.800000	0.85949	1.083000	0.41159	-0.291000	0.09656	CGC		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
CPNE4	131034	broad.mit.edu	37	3	131442324	131442324	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:131442324T>G	ENST00000512055.1	-	7	2452	c.326A>C	c.(325-327)gAc>gCc	p.D109A	CPNE4_ENST00000512332.1_Missense_Mutation_p.D127A|CPNE4_ENST00000429747.1_Missense_Mutation_p.D109A|CPNE4_ENST00000511604.1_Missense_Mutation_p.D109A|CPNE4_ENST00000502818.1_Missense_Mutation_p.D127A			Q96A23	CPNE4_HUMAN	copine IV	109	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.D109A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACCAAGGAAGTCGGCCTCCTT	0.547																																					p.D109A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A326C	3						.						200.0	167.0	178.0					3																	131442324		2203	4300	6503	132925014	SO:0001583	missense	131034	exon3			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.326A>C	3.37:g.131442324T>G	ENSP00000421705:p.Asp109Ala		132925014	NM_130808	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055434	0.55325	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.48	5.48	0.80851	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.042507	0.85682	D	0.000000	T	0.77301	0.4110	M	0.84846	2.72	0.58432	D	0.999998	B;B	0.15473	0.009;0.013	B;B	0.29862	0.052;0.108	T	0.77024	-0.2741	10	0.87932	D	0	-20.1568	15.6136	0.76748	0.0:0.0:0.0:1.0	.	127;109	Q96A23-2;Q96A23	.;CPNE4_HUMAN	A	109;109;127;109;127;109	ENSP00000421705:D109A;ENSP00000411904:D109A;ENSP00000424853:D127A;ENSP00000423811:D109A;ENSP00000421646:D127A;ENSP00000425506:D109A	ENSP00000411904:D109A	D	-	2	0	CPNE4	132925014	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	5.069000	0.64370	2.094000	0.63399	0.529000	0.55759	GAC		0.547	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
DNAJC13	23317	broad.mit.edu	37	3	132222114	132222114	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:132222114G>A	ENST00000260818.6	+	41	5021	c.4773G>A	c.(4771-4773)ggG>ggA	p.G1591G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1591					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.G1591G(1)|p.G974G(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCCTTGGAGGGTATTTGGCTG	0.418																																					p.G1591G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4773A	3						.						85.0	84.0	84.0					3																	132222114		2203	4300	6503	133704804	SO:0001819	synonymous_variant	23317	exon41			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4773G>A	3.37:g.132222114G>A			133704804	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	CCDS33857.1																																																																																				0.418	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
ESYT3	83850	broad.mit.edu	37	3	138193163	138193163	+	Missense_Mutation	SNP	C	C	T	rs191463941	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:138193163C>T	ENST00000389567.4	+	20	2623	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	813	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.R813W(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTCAGTGAAGCGGAAGACCTT	0.498													C|||	23	0.00459265	0.0	0.0331	5008	,	,		18430	0.0		0.0	False		,,,				2504	0.0				p.R813W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2437T	3						.						136.0	142.0	140.0					3																	138193163		2015	4170	6185	139675853	SO:0001583	missense	83850	exon20			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2437C>T	3.37:g.138193163C>T	ENSP00000374218:p.Arg813Trp		139675853	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	7	0.003205128205128205	0	0.0	7	0.019337016574585635	0	0.0	0	0.0	C	19.41	3.822773	0.71028	.	.	ENSG00000158220	ENST00000389567	T	0.70631	-0.5	5.07	2.23	0.28157	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.329719	0.23265	N	0.050100	T	0.67306	0.2879	M	0.77616	2.38	0.58432	D	0.999999	D	0.71674	0.998	P	0.57846	0.828	T	0.74858	-0.3521	10	0.54805	T	0.06	-14.3821	12.166	0.54131	0.6035:0.3965:0.0:0.0	.	813	A0FGR9	ESYT3_HUMAN	W	813	ENSP00000374218:R813W	ENSP00000374218:R813W	R	+	1	2	ESYT3	139675853	1.000000	0.71417	0.965000	0.40720	0.933000	0.57130	1.328000	0.33758	0.273000	0.22049	-0.182000	0.12963	CGG		0.498	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	
C3orf20	84077	broad.mit.edu	37	3	14724291	14724291	+	Missense_Mutation	SNP	G	G	A	rs202010042		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:14724291G>A	ENST00000253697.3	+	3	523	c.71G>A	c.(70-72)cGc>cAc	p.R24H	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	24						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R24H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTACTGGCCCGCATCTCCAAA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21323	0.001		0.0	False		,,,				2504	0.0				p.R24H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G71A	3						.						103.0	112.0	109.0					3																	14724291		2203	4300	6503	14699295	SO:0001583	missense	84077	exon3			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.71G>A	3.37:g.14724291G>A	ENSP00000253697:p.Arg24His		14699295	NM_032137	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.129	0.579468	0.13686	.	.	ENSG00000131379	ENST00000253697	T	0.05447	3.44	5.28	-2.48	0.06423	.	1.044700	0.07589	N	0.921704	T	0.02688	0.0081	N	0.05124	-0.11	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.46275	-0.9203	10	0.02654	T	1	-1.7324	10.4435	0.44479	0.4761:0.0:0.5239:0.0	.	24	Q8ND61	CC020_HUMAN	H	24	ENSP00000253697:R24H	ENSP00000253697:R24H	R	+	2	0	C3orf20	14699295	0.000000	0.05858	0.245000	0.24217	0.856000	0.48823	-0.115000	0.10741	-0.760000	0.04677	0.591000	0.81541	CGC		0.463	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
CLSTN2	64084	broad.mit.edu	37	3	140123480	140123480	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:140123480C>T	ENST00000458420.3	+	4	699	c.509C>T	c.(508-510)aCg>aTg	p.T170M	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.T170M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCTGTTGTGACGGAGGGCAAG	0.532										HNSCC(16;0.037)																											p.T170M	GBM(45;858 913 3709 36904 37282)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C509T	3						.						134.0	106.0	116.0					3																	140123480		2203	4300	6503	141606170	SO:0001583	missense	64084	exon4			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.509C>T	3.37:g.140123480C>T	ENSP00000402460:p.Thr170Met		141606170	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698744	0.48307	.	.	ENSG00000158258	ENST00000458420	T	0.51071	0.72	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.43923	1.385	0.45747	D	0.998642	D	0.89917	1.0	D	0.74023	0.982	T	0.59091	-0.7519	10	0.45353	T	0.12	-23.1038	17.2492	0.87037	0.0:1.0:0.0:0.0	.	170	Q9H4D0	CSTN2_HUMAN	M	170	ENSP00000402460:T170M	ENSP00000402460:T170M	T	+	2	0	CLSTN2	141606170	0.752000	0.28338	0.768000	0.31515	0.875000	0.50365	1.459000	0.35234	2.665000	0.90641	0.563000	0.77884	ACG		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
ERICH6	131831	broad.mit.edu	37	3	150421508	150421508	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:150421508A>G	ENST00000295910.6	-	1	230	c.178T>C	c.(178-180)Ttg>Ctg	p.L60L	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2												p.L60L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcccccaccaactcctcctcc	0.612																																					p.L60L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T178C	3						.						221.0	173.0	189.0					3																	150421508		2203	4300	6503	151904198	SO:0001819	synonymous_variant	131831	exon1																														ENST00000295910.6:c.178T>C	3.37:g.150421508A>G			151904198	NM_152394		Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.612	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
IGSF10	285313	broad.mit.edu	37	3	151166575	151166575	+	Silent	SNP	C	C	T	rs146034413	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:151166575C>T	ENST00000282466.3	-	4	1193	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	398					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.P398P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATAGAGCTGCGGTGTTTCAC	0.428													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21118	0.0		0.0	False		,,,				2504	0.001				p.P398P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1194A	3						.	C		8,4398	14.3+/-33.2	0,8,2195	80.0	75.0	77.0		1194	-8.9	0.0	3	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	IGSF10	NM_178822.4		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		398/2624	151166575	8,12998	2203	4300	6503	152649265	SO:0001819	synonymous_variant	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1194G>A	3.37:g.151166575C>T			152649265	NM_178822	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
GPR149	344758	broad.mit.edu	37	3	154146636	154146636	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:154146636G>A	ENST00000389740.2	-	1	868	c.769C>T	c.(769-771)Cca>Tca	p.P257S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	257					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P257S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCGGGCCTGGAGCATCCTCT	0.657																																					p.P257S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	3						.						30.0	34.0	33.0					3																	154146636		1877	4111	5988	155629330	SO:0001583	missense	344758	exon1			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.769C>T	3.37:g.154146636G>A	ENSP00000374390:p.Pro257Ser		155629330	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	7.166	0.586665	0.13749	.	.	ENSG00000174948	ENST00000389740	T	0.27890	1.64	4.69	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.931695	0.09150	N	0.841654	T	0.24005	0.0581	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31223	-0.9951	10	0.15066	T	0.55	-0.6483	11.7135	0.51639	0.0859:0.6614:0.2527:0.0	.	257	Q86SP6	GP149_HUMAN	S	257	ENSP00000374390:P257S	ENSP00000374390:P257S	P	-	1	0	GPR149	155629330	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.806000	0.27126	0.200000	0.20447	-0.136000	0.14681	CCA		0.657	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
IFT80	57560	broad.mit.edu	37	3	160073919	160073919	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:160073919C>T	ENST00000326448.7	-	8	1091	c.659G>A	c.(658-660)cGc>cAc	p.R220H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R391H|IFT80_ENST00000496589.1_Missense_Mutation_p.R83H|IFT80_ENST00000483465.1_Missense_Mutation_p.R83H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	220					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.R220H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTACAGTGGGCGGCCGTAACT	0.353																																					p.R83H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	3						.						74.0	68.0	70.0					3																	160073919		2203	4300	6503	161556613	SO:0001583	missense	57560	exon7			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.659G>A	3.37:g.160073919C>T	ENSP00000312778:p.Arg220His		161556613	NM_001190242	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662401	0.29515	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.30981	1.51;4.95;4.95;1.53	5.37	3.59	0.41128	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.56097	U	0.000038	T	0.36082	0.0954	M	0.80183	2.485	0.54753	D	0.999986	B	0.20368	0.044	B	0.19946	0.027	T	0.21211	-1.0252	10	0.59425	D	0.04	-9.428	10.4869	0.44729	0.0:0.7846:0.0:0.2154	.	220	Q9P2H3	IFT80_HUMAN	H	220;83;83;83	ENSP00000312778:R220H;ENSP00000418196:R83H;ENSP00000420646:R83H;ENSP00000418602:R83H	ENSP00000312778:R220H	R	-	2	0	IFT80	161556613	0.996000	0.38824	0.695000	0.30226	0.223000	0.24884	2.979000	0.49313	0.657000	0.30906	-0.136000	0.14681	CGC		0.353	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
PLD1	5337	broad.mit.edu	37	3	171405281	171405281	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:171405281C>T	ENST00000351298.4	-	15	1759	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.D545N|PLD1_ENST00000356327.5_Missense_Mutation_p.D545N	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	545	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.D545N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTTTTGAATCCACATCATCA	0.438																																					p.D545N	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1633A	3						.						147.0	138.0	141.0					3																	171405281		2203	4300	6503	172887975	SO:0001583	missense	5337	exon15			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1633G>A	3.37:g.171405281C>T	ENSP00000342793:p.Asp545Asn		172887975	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	5.650	0.304631	0.10678	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.07908	3.33;3.31;3.15	5.25	4.37	0.52481	.	0.454968	0.23640	N	0.046031	T	0.09247	0.0228	L	0.52905	1.665	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.10567	-1.0624	10	0.27785	T	0.31	-17.3489	9.8019	0.40770	0.0:0.7701:0.1503:0.0796	.	568;545	Q59EA4;Q13393	.;PLD1_HUMAN	N	545	ENSP00000348681:D545N;ENSP00000342793:D545N;ENSP00000340326:D545N	ENSP00000340326:D545N	D	-	1	0	PLD1	172887975	0.981000	0.34729	0.252000	0.24328	0.026000	0.11368	2.571000	0.45990	1.363000	0.46019	0.563000	0.77884	GAT		0.438	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
SPATA16	83893	broad.mit.edu	37	3	172607385	172607385	+	Missense_Mutation	SNP	C	C	T	rs139543023		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:172607385C>T	ENST00000351008.3	-	11	1868	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	562					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.R562Q(2)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGTTTGAAGTCGCTTCATTTT	0.408																																					p.R562Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1685A	3						.	C	GLN/ARG	0,4406		0,0,2203	239.0	219.0	226.0		1685	5.8	1.0	3	dbSNP_134	226	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPATA16	NM_031955.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	562/570	172607385	1,13005	2203	4300	6503	174090079	SO:0001583	missense	83893	exon11			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1685G>A	3.37:g.172607385C>T	ENSP00000341765:p.Arg562Gln		174090079	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681449	0.68042	0.0	1.16E-4	ENSG00000144962	ENST00000351008	T	0.18810	2.19	5.78	5.78	0.91487	.	0.110105	0.40144	N	0.001161	T	0.30823	0.0777	L	0.27053	0.805	0.26847	N	0.968246	D	0.76494	0.999	D	0.64687	0.928	T	0.09509	-1.0671	10	0.72032	D	0.01	-14.0415	12.813	0.57649	0.0:0.9227:0.0:0.0773	.	562	Q9BXB7	SPT16_HUMAN	Q	562	ENSP00000341765:R562Q	ENSP00000341765:R562Q	R	-	2	0	SPATA16	174090079	0.999000	0.42202	0.996000	0.52242	0.561000	0.35649	3.214000	0.51161	2.894000	0.99253	0.591000	0.81541	CGA		0.408	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
EIF4G1	1981	broad.mit.edu	37	3	184049134	184049134	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:184049134T>C	ENST00000346169.2	+	29	4513	c.4242T>C	c.(4240-4242)ggT>ggC	p.G1414G	EIF4G1_ENST00000424196.1_Silent_p.G1421G|EIF4G1_ENST00000411531.1_Silent_p.G1375G|EIF4G1_ENST00000342981.4_Silent_p.G1415G|EIF4G1_ENST00000427845.1_Silent_p.G1328G|EIF4G1_ENST00000350481.5_Silent_p.G1250G|EIF4G1_ENST00000434061.2_Silent_p.G1219G|EIF4G1_ENST00000382330.3_Silent_p.G1421G|EIF4G1_ENST00000352767.3_Silent_p.G1421G|EIF4G1_ENST00000392537.2_Silent_p.G1327G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Silent_p.G1414G|EIF4G1_ENST00000414031.1_Silent_p.G1374G|EIF4G1_ENST00000441154.1_Silent_p.G1251G|EIF4G1_ENST00000435046.2_Silent_p.G1218G	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1414					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G1414G(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGACATTGGTGCATTCGTCG	0.512																																					p.G1415G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4245C	3						.						163.0	173.0	170.0					3																	184049134		2203	4300	6503	185531828	SO:0001819	synonymous_variant	1981	exon28			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4242T>C	3.37:g.184049134T>C			185531828	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.512	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
MASP1	5648	broad.mit.edu	37	3	186971021	186971021	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:186971021A>G	ENST00000337774.5	-	6	1216	c.827T>C	c.(826-828)cTg>cCg	p.L276P	MASP1_ENST00000296280.6_Missense_Mutation_p.L276P|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.L250P|MASP1_ENST00000392472.2_Missense_Mutation_p.L163P|MASP1_ENST00000169293.6_Missense_Mutation_p.L276P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	276	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.L276P(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAACAGGATCAGGACACTGTG	0.542																																					p.L276P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T827C	3						.						208.0	213.0	211.0					3																	186971021		2203	4300	6503	188453715	SO:0001583	missense	5648	exon6			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.827T>C	3.37:g.186971021A>G	ENSP00000336792:p.Leu276Pro		188453715	NM_001031849	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247818	0.39697	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.63	3.24	0.37175	CUB (5);	0.232386	0.44097	D	0.000486	T	0.34716	0.0907	M	0.84948	2.725	0.48571	D	0.999676	B;B;B;B;B	0.30563	0.144;0.285;0.082;0.144;0.083	B;B;B;B;B	0.31442	0.014;0.13;0.11;0.11;0.025	T	0.07597	-1.0764	10	0.32370	T	0.25	.	7.0932	0.25295	0.1361:0.0722:0.0:0.7917	.	250;276;163;276;276	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	P	276;276;163;163;276;250	ENSP00000336792:L276P;ENSP00000296280:L276P;ENSP00000376264:L163P;ENSP00000169293:L276P;ENSP00000376262:L250P	ENSP00000169293:L276P	L	-	2	0	MASP1	188453715	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	2.345000	0.44018	0.488000	0.27723	-0.339000	0.08088	CTG		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
TP63	8626	broad.mit.edu	37	3	189586486	189586486	+	Silent	SNP	C	C	T	rs375593834		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:189586486C>T	ENST00000264731.3	+	8	1199	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	TP63_ENST00000418709.2_Silent_p.N370N|TP63_ENST00000382063.4_Silent_p.N285N|TP63_ENST00000354600.5_Silent_p.N276N|TP63_ENST00000437221.1_Silent_p.N276N|TP63_ENST00000449992.1_Silent_p.N191N|TP63_ENST00000392460.3_Silent_p.N370N|TP63_ENST00000392463.2_Silent_p.N276N|TP63_ENST00000440651.2_Silent_p.N370N|TP63_ENST00000392461.3_Silent_p.N276N|TP63_ENST00000456148.1_Silent_p.N276N|TP63_ENST00000320472.5_Silent_p.N370N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	370	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.N370N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTACAAAGAACGGTGATGGTA	0.512										HNSCC(45;0.13)																											p.N276N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C828T	3						.	C	,,,,,	0,4406		0,0,2203	133.0	125.0	128.0		1110,1110,828,828,828,1110	0.1	1.0	3		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TP63	NM_001114978.1,NM_001114979.1,NM_001114980.1,NM_001114981.1,NM_001114982.1,NM_003722.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	370/556,370/488,276/587,276/462,276/394,370/681	189586486	1,13005	2203	4300	6503	191069180	SO:0001819	synonymous_variant	8626	exon6			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1110C>T	3.37:g.189586486C>T			191069180	NM_001114980	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.512	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
ATP13A5	344905	broad.mit.edu	37	3	193082053	193082053	+	Missense_Mutation	SNP	C	C	T	rs78621247		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:193082053C>T	ENST00000342358.4	-	2	197	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	27						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R27L(1)|p.R27Q(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGTGGTCCCGGTAACCAAA	0.443																																					p.R27Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G80A	3						.						134.0	140.0	138.0					3																	193082053		2203	4300	6503	194564747	SO:0001583	missense	344905	exon2			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.80G>A	3.37:g.193082053C>T	ENSP00000341942:p.Arg27Gln		194564747	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112848	0.20795	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.25579	1.79;1.79	5.5	-4.64	0.03349	.	1.440510	0.04190	N	0.328176	T	0.23846	0.0577	L	0.44542	1.39	0.09310	N	0.999995	B	0.22683	0.073	B	0.24701	0.055	T	0.33369	-0.9871	10	0.30078	T	0.28	0.0178	13.4643	0.61245	0.0:0.3546:0.0:0.6454	.	27	Q4VNC0	AT135_HUMAN	Q	27;49	ENSP00000341942:R27Q;ENSP00000389416:R49Q	ENSP00000341942:R27Q	R	-	2	0	ATP13A5	194564747	0.001000	0.12720	0.003000	0.11579	0.043000	0.13939	-0.477000	0.06583	-0.845000	0.04179	-0.142000	0.14014	CGG		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
BRPF1	7862	broad.mit.edu	37	3	9776310	9776310	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:9776310T>C	ENST00000457855.1	+	1	497	c.486T>C	c.(484-486)caT>caC	p.H162H	BRPF1_ENST00000433861.2_Silent_p.H162H|BRPF1_ENST00000383829.2_Silent_p.H162H|BRPF1_ENST00000302054.3_Silent_p.H162H|BRPF1_ENST00000424362.1_Silent_p.H162H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	162	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H162H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACTCCAACCATCACCACCACC	0.567																																					p.H162H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T486C	3						.						75.0	75.0	75.0					3																	9776310		2203	4300	6503	9751310	SO:0001819	synonymous_variant	7862	exon2			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.486T>C	3.37:g.9776310T>C			9751310	NM_004634	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																				0.567	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
CMC1	152100	broad.mit.edu	37	3	28304843	28304843	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:28304843C>A	ENST00000466830.1	+	2	280	c.81C>A	c.(79-81)gcC>gcA	p.A27A	CMC1_ENST00000423894.1_Intron	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	27						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.A27A(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)	5						GAGAAAAGGCCAAAGAGAGGT	0.308																																					p.A27A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C81A	3						.						54.0	59.0	57.0					3																	28304843		2203	4295	6498	28279847	SO:0001819	synonymous_variant	152100	exon2			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.81C>A	3.37:g.28304843C>A			28279847	NM_182523	Q68DJ7	Silent	SNP	ENST00000466830.1	37	CCDS33722.1	.	.	.	.	.	.	.	.	.	.	C	9.731	1.162364	0.21538	.	.	ENSG00000187118	ENST00000418849	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	T	0.69611	0.3130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66826	-0.5825	4	.	.	.	-6.592	13.7842	0.63099	0.0:0.9274:0.0:0.0726	.	.	.	.	K	34	.	.	Q	+	1	0	CMC1	28279847	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.229000	0.42990	2.811000	0.96726	0.557000	0.71058	CAA		0.308	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1	NM_182523	
ZCWPW2	152098	broad.mit.edu	37	3	28562499	28562499	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:28562499A>C	ENST00000383768.2	+	9	989	c.801A>C	c.(799-801)gaA>gaC	p.E267D	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E267D			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	267							zinc ion binding (GO:0008270)	p.E267D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GTGAGACGGAAGTTTTACTAA	0.378																																					p.E267D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A801C	3						.						91.0	88.0	89.0					3																	28562499		2203	4300	6503	28537503	SO:0001583	missense	152098	exon8			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.801A>C	3.37:g.28562499A>C	ENSP00000373278:p.Glu267Asp		28537503	NM_001040432		Missense_Mutation	SNP	ENST00000383768.2	37	CCDS33723.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	17.38|17.38|17.38	3.374453|3.374453|3.374453	0.61735|0.61735|0.61735	.|.|.	.|.|.	ENSG00000206559|ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000457897|ENST00000419130	T;T|.|.	0.42900|.|.	0.96;0.96|.|.	5.54|5.54|5.54	4.36|4.36|4.36	0.52297|0.52297|0.52297	.|.|.	0.229900|.|.	0.30901|.|.	N|.|.	0.008644|.|.	T|T|T	0.35422|0.35422|0.35422	0.0931|0.0931|0.0931	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.26481|0.26481|0.26481	N|N|N	0.975108|0.975108|0.975108	D|.|.	0.76494|.|.	0.999|.|.	D|.|.	0.76071|.|.	0.987|.|.	T|T|T	0.17653|0.17653|0.17653	-1.0362|-1.0362|-1.0362	10|5|5	0.32370|.|.	T|.|.	0.25|.|.	-24.057|-24.057|-24.057	8.5912|8.5912|8.5912	0.33688|0.33688|0.33688	0.9097:0.0:0.0903:0.0|0.9097:0.0:0.0903:0.0|0.9097:0.0:0.0903:0.0	.|.|.	267|.|.	Q504Y3|.|.	ZCPW2_HUMAN|.|.	D|T|R	267|90|152	ENSP00000373278:E267D;ENSP00000412386:E267D|.|.	ENSP00000373278:E267D|.|.	E|K|S	+|+|+	3|2|1	2|0|0	ZCWPW2|ZCWPW2|ZCWPW2	28537503|28537503|28537503	0.749000|0.749000|0.749000	0.28305|0.28305|0.28305	0.903000|0.903000|0.903000	0.35520|0.35520|0.35520	0.577000|0.577000|0.577000	0.36160|0.36160|0.36160	1.127000|1.127000|1.127000	0.31357|0.31357|0.31357	2.098000|2.098000|2.098000	0.63641|0.63641|0.63641	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|AGT		0.378	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	
RBMS3	27303	broad.mit.edu	37	3	29476298	29476298	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:29476298A>G	ENST00000383767.2	+	2	476	c.140A>G	c.(139-141)aAc>aGc	p.N47S	RBMS3_ENST00000445033.1_Missense_Mutation_p.N47S|RBMS3_ENST00000456853.1_Missense_Mutation_p.N47S|RBMS3_ENST00000452462.1_Missense_Mutation_p.N47S|RBMS3_ENST00000434693.2_Missense_Mutation_p.N46S|RBMS3_ENST00000396583.3_Missense_Mutation_p.N47S|RBMS3_ENST00000273139.9_Missense_Mutation_p.N47S|RBMS3_ENST00000383766.2_Missense_Mutation_p.N46S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	47					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.N47S(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				agcagcagcaacaacagcagc	0.532																																					p.N47S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A140G	3						.						175.0	134.0	148.0					3																	29476298		2203	4300	6503	29451302	SO:0001583	missense	27303	exon2			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.140A>G	3.37:g.29476298A>G	ENSP00000373277:p.Asn47Ser		29451302	NM_001003793	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248950	0.39797	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.33865	1.39;1.8;1.39;1.39;1.39;1.87;1.39;1.8	4.9	4.9	0.64082	Nucleotide-binding, alpha-beta plait (1);	0.189157	0.44902	D	0.000403	T	0.24275	0.0588	N	0.25201	0.72	0.34844	D	0.741012	B;B;B;B	0.24576	0.02;0.106;0.106;0.064	B;B;B;B	0.15484	0.007;0.013;0.013;0.006	T	0.25641	-1.0126	9	.	.	.	.	14.192	0.65644	1.0:0.0:0.0:0.0	.	47;47;46;47	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	S	46;47;47;47;47;46;47;47	ENSP00000395592:N46S;ENSP00000379828:N47S;ENSP00000373277:N47S;ENSP00000391934:N47S;ENSP00000273139:N47S;ENSP00000373276:N46S;ENSP00000397926:N47S;ENSP00000400519:N47S	.	N	+	2	0	RBMS3	29451302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.009000	0.49552	1.840000	0.53500	0.459000	0.35465	AAC		0.532	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
GPD1L	23171	broad.mit.edu	37	3	32200471	32200471	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:32200471C>T	ENST00000282541.5	+	6	923	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	241					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)	p.A241V(1)		large_intestine(4)|lung(7)|ovary(1)	12						ATTGCTTTTGCCAGGATCTTC	0.597																																					p.A241V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722T	3						.						78.0	76.0	77.0					3																	32200471		2203	4300	6503	32175475	SO:0001583	missense	23171	exon6			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.722C>T	3.37:g.32200471C>T	ENSP00000282541:p.Ala241Val		32175475	NM_015141	A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336841	0.41398	.	.	ENSG00000152642	ENST00000282541	T	0.63580	-0.05	5.54	4.67	0.58626	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal (1);	0.048715	0.85682	D	0.000000	T	0.53286	0.1787	L	0.47716	1.5	0.80722	D	1	B	0.27450	0.179	B	0.24155	0.051	T	0.48258	-0.9051	10	0.17832	T	0.49	-20.8486	14.5687	0.68197	0.0:0.9294:0.0:0.0706	.	241	Q8N335	GPD1L_HUMAN	V	241	ENSP00000282541:A241V	ENSP00000282541:A241V	A	+	2	0	GPD1L	32175475	1.000000	0.71417	0.973000	0.42090	0.632000	0.37999	7.749000	0.85096	1.339000	0.45563	-0.309000	0.09137	GCC		0.597	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141	
CNOT10	25904	broad.mit.edu	37	3	32769197	32769197	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:32769197A>G	ENST00000328834.5	+	10	1366	c.1050A>G	c.(1048-1050)ctA>ctG	p.L350L	CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Silent_p.L350L|CNOT10_ENST00000454516.2_Silent_p.L410L|CNOT10_ENST00000538368.1_Silent_p.L122L	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	350					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.L350L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GTACGTTACTAACCAATAAGA	0.353																																					p.L350L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1050G	3						.						99.0	85.0	90.0					3																	32769197		2203	4300	6503	32744201	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.1050A>G	3.37:g.32769197A>G			32744201	NM_015442	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Silent	SNP	ENST00000328834.5	37	CCDS2655.1																																																																																				0.353	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	
DLEC1	9940	broad.mit.edu	37	3	38080791	38080791	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:38080791G>A	ENST00000308059.6	+	1	96	c.75G>A	c.(73-75)gcG>gcA	p.A25A	DLEC1_ENST00000452631.2_Silent_p.A25A|DLEC1_ENST00000346219.3_Silent_p.A25A					deleted in lung and esophageal cancer 1									p.A25A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAATGTGGGCGCCAACTTCGC	0.627																																					p.A25A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G75A	3						.						50.0	62.0	58.0					3																	38080791		2100	4232	6332	38055795	SO:0001819	synonymous_variant	9940	exon1			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.75G>A	3.37:g.38080791G>A			38055795	NM_007337		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
ACVR2B	93	broad.mit.edu	37	3	38518859	38518859	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:38518859G>A	ENST00000352511.4	+	2	606	c.134G>A	c.(133-135)gGc>gAc	p.G45D		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	45					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G45D(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AACCAGAGCGGCCTGGAGCGC	0.642																																					p.G45D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G134A	3						.						64.0	60.0	61.0					3																	38518859		2203	4300	6503	38493863	SO:0001583	missense	93	exon2			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.134G>A	3.37:g.38518859G>A	ENSP00000340361:p.Gly45Asp		38493863	NM_001106	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416293	0.96092	.	.	ENSG00000114739	ENST00000352511	D	0.98792	-5.14	4.47	4.47	0.54385	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	M	0.83483	2.645	0.80722	D	1	D	0.59767	0.986	P	0.58130	0.833	D	0.99041	1.0824	10	0.37606	T	0.19	.	17.3369	0.87283	0.0:0.0:1.0:0.0	.	45	Q13705	AVR2B_HUMAN	D	45	ENSP00000340361:G45D	ENSP00000340361:G45D	G	+	2	0	ACVR2B	38493863	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.590000	0.98238	2.318000	0.78349	0.655000	0.94253	GGC		0.642	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	
CCR8	1237	broad.mit.edu	37	3	39374648	39374648	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:39374648C>A	ENST00000326306.4	+	2	964	c.826C>A	c.(826-828)Caa>Aaa	p.Q276K	CCR8_ENST00000545843.1_Missense_Mutation_p.Q193K|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	276					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.Q276K(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TAGCATAAGCCAACAGCTGAC	0.433																																					p.Q276K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826A	3						.						121.0	112.0	115.0					3																	39374648		2203	4300	6503	39349652	SO:0001583	missense	1237	exon2			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.826C>A	3.37:g.39374648C>A	ENSP00000326432:p.Gln276Lys		39349652	NM_005201	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	C	0.470	-0.885078	0.02511	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.71461	-0.57;-0.57	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.133369	0.50627	D	0.000116	T	0.48390	0.1497	N	0.04768	-0.165	0.39460	D	0.967549	B;B	0.20550	0.046;0.046	B;B	0.28139	0.086;0.086	T	0.46624	-0.9178	10	0.11485	T	0.65	.	12.4322	0.55581	0.1684:0.8316:0.0:0.0	.	276;193	P51685;Q3KNR3	CCR8_HUMAN;.	K	276;193	ENSP00000326432:Q276K;ENSP00000440474:Q193K	ENSP00000326432:Q276K	Q	+	1	0	CCR8	39349652	0.599000	0.26891	0.299000	0.25016	0.004000	0.04260	0.525000	0.22956	2.476000	0.83614	0.655000	0.94253	CAA		0.433	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201	
TRAK1	22906	broad.mit.edu	37	3	42244172	42244172	+	Missense_Mutation	SNP	G	G	A	rs112579771	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:42244172G>A	ENST00000327628.5	+	13	2072	c.1672G>A	c.(1672-1674)Ggc>Agc	p.G558S	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.G500S|TRAK1_ENST00000449246.1_Missense_Mutation_p.G484S|TRAK1_ENST00000396175.1_Missense_Mutation_p.G500S	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	558					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G500S(3)|p.G558S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGAGTTCACCGGCTTCTCTGG	0.657													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15050	0.0		0.0	False		,,,				2504	0.0				p.G558S	GBM(44;195 884 22595 31865 41850)											.	.	4	Substitution - Missense(4)	large_intestine(3)|upper_aerodigestive_tract(1)	c.G1672A	3						.	G	SER/GLY,SER/GLY	6,4400		0,6,2197	42.0	48.0	46.0		1672,1498	5.9	1.0	3	dbSNP_132	46	0,8600		0,0,4300	yes	missense,missense	TRAK1	NM_001042646.1,NM_014965.3	56,56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging	558/954,500/687	42244172	6,13000	2203	4300	6503	42219176	SO:0001583	missense	22906	exon13				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1672G>A	3.37:g.42244172G>A	ENSP00000328998:p.Gly558Ser		42219176	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	34	5.385533	0.95967	0.001362	0.0	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.15139	3.1;3.06;3.09;3.05;2.45	5.95	5.95	0.96441	Trafficking kinesin-binding protein domain (1);	0.121669	0.56097	D	0.000025	T	0.41926	0.1180	M	0.62723	1.935	0.52099	D	0.999947	D;D;D;D;D;D	0.89917	0.992;0.997;0.992;0.99;0.996;1.0	P;P;P;P;P;D	0.74674	0.824;0.824;0.824;0.731;0.788;0.984	T	0.03193	-1.1062	10	0.51188	T	0.08	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	484;500;558;500;484;558	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	S	558;558;484;500;500;276	ENSP00000328998:G558S;ENSP00000410717:G484S;ENSP00000379478:G500S;ENSP00000340702:G500S;ENSP00000413729:G276S	ENSP00000328998:G558S	G	+	1	0	TRAK1	42219176	.	.	0.991000	0.47740	0.995000	0.86356	.	.	2.824000	0.97209	0.655000	0.94253	GGC		0.657	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
POMGNT2	84892	broad.mit.edu	37	3	43121927	43121927	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:43121927G>A	ENST00000344697.2	-	2	1342	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R333W	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	333					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.R333W(2)									CTGACCAGCCGCACGACATCA	0.602																																					p.R333W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C997T	3						.						70.0	64.0	66.0					3																	43121927		2203	4300	6503	43096931	SO:0001583	missense	84892	exon2			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.997C>T	3.37:g.43121927G>A	ENSP00000344125:p.Arg333Trp		43096931	NM_032806	B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816164	0.50527	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.79653	-1.29;-1.29	5.56	4.67	0.58626	.	0.060639	0.64402	D	0.000002	D	0.87010	0.6071	M	0.61703	1.905	0.54753	D	0.999986	D	0.76494	0.999	D	0.63033	0.91	D	0.88462	0.3056	10	0.87932	D	0	-23.1393	15.5053	0.75735	0.0:0.1388:0.8612:0.0	.	333	Q8NAT1	AGO61_HUMAN	W	333	ENSP00000408992:R333W;ENSP00000344125:R333W	ENSP00000344125:R333W	R	-	1	2	C3orf39	43096931	1.000000	0.71417	0.996000	0.52242	0.561000	0.35649	5.434000	0.66526	1.317000	0.45149	0.650000	0.86243	CGG		0.602	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806	
ZKSCAN7	55888	broad.mit.edu	37	3	44612849	44612849	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:44612849G>A	ENST00000273320.3	+	6	2676	c.2247G>A	c.(2245-2247)ctG>ctA	p.L749L	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.L749L|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	749					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.L749L(1)									CCTCAGGTCTGGCTTGGTCAG	0.453																																					p.L749L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2247A	3						.						86.0	88.0	87.0					3																	44612849		2203	4300	6503	44587853	SO:0001819	synonymous_variant	55888	exon6			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2247G>A	3.37:g.44612849G>A			44587853	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	G	3.600	-0.081713	0.07141	.	.	ENSG00000196345	ENST00000315777	.	.	.	3.79	0.903	0.19296	.	.	.	.	.	T	0.28400	0.0702	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.35500	-0.9786	5	0.72032	D	0.01	-0.4109	0.8504	0.01171	0.2181:0.1856:0.4053:0.191	.	.	.	.	S	187	.	ENSP00000319007:G187S	G	+	1	0	ZNF167	44587853	0.456000	0.25744	0.078000	0.20375	0.135000	0.20990	3.254000	0.51477	0.373000	0.24621	-0.150000	0.13652	GGC		0.453	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
KIF9	64147	broad.mit.edu	37	3	47312929	47312929	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:47312929C>T	ENST00000265529.3	-	6	1069	c.389G>A	c.(388-390)cGc>cAc	p.R130H	KIF9_ENST00000444589.2_Missense_Mutation_p.R130H|KIF9_ENST00000352910.4_Missense_Mutation_p.R37H|KIF9_ENST00000335044.2_Missense_Mutation_p.R130H|KIF9_ENST00000452770.2_Missense_Mutation_p.R130H|KIF9_ENST00000487440.1_5'UTR			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.R130H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATGTGTGGGGCGTTCTTCGAT	0.493																																					p.R130H	Colon(44;962 1147 15977 24541)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	3						.						89.0	84.0	86.0					3																	47312929		2203	4300	6503	47287933	SO:0001583	missense	64147	exon5			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.389G>A	3.37:g.47312929C>T	ENSP00000265529:p.Arg130His		47287933	NM_182902	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468312	0.84533	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.33	5.33	0.75918	Kinesin, motor domain (4);	0.207650	0.36134	N	0.002761	T	0.73885	0.3644	L	0.56340	1.77	0.32325	N	0.561905	P;D	0.53619	0.87;0.961	B;P	0.50162	0.382;0.633	T	0.76482	-0.2943	10	0.28530	T	0.3	.	11.2589	0.49071	0.0:0.9163:0.0:0.0837	.	130;130	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	H	130;130;130;130;37	ENSP00000333942:R130H;ENSP00000265529:R130H;ENSP00000414987:R130H;ENSP00000391100:R130H;ENSP00000292334:R37H	ENSP00000265529:R130H	R	-	2	0	KIF9	47287933	0.968000	0.33430	1.000000	0.80357	0.993000	0.82548	1.419000	0.34793	2.781000	0.95711	0.650000	0.86243	CGC		0.493	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
QRICH1	54870	broad.mit.edu	37	3	49094788	49094788	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:49094788A>G	ENST00000395443.2	-	3	1317	c.845T>C	c.(844-846)tTg>tCg	p.L282S	QRICH1_ENST00000357496.2_Missense_Mutation_p.L282S|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Missense_Mutation_p.L282S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	282	Gln-rich.					nucleus (GO:0005634)		p.L282S(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTCTGGCCTCAAAGACACATA	0.552																																					p.L282S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T845C	3						.						64.0	62.0	63.0					3																	49094788		2203	4300	6503	49069792	SO:0001583	missense	54870	exon3				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.845T>C	3.37:g.49094788A>G	ENSP00000378830:p.Leu282Ser		49069792	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959253	0.74016	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	T;T;T	0.27720	1.65;1.65;1.65	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.40553	-0.9557	10	0.87932	D	0	-1.6523	16.6277	0.84984	1.0:0.0:0.0:0.0	.	282	Q2TAL8	QRIC1_HUMAN	S	282	ENSP00000378830:L282S;ENSP00000350094:L282S;ENSP00000412890:L282S	ENSP00000350094:L282S	L	-	2	0	QRICH1	49069792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.330000	0.79161	0.528000	0.53228	TTG		0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
LAMB2	3913	broad.mit.edu	37	3	49161404	49161404	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:49161404G>A	ENST00000418109.1	-	25	3718	c.3554C>T	c.(3553-3555)cCt>cTt	p.P1185L	LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.P1185L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1185	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P1185L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGGCAGGCAGGAAAGATTCC	0.632																																					p.P1185L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3554T	3						.						50.0	45.0	47.0					3																	49161404		2203	4300	6503	49136408	SO:0001583	missense	3913	exon24				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3554C>T	3.37:g.49161404G>A	ENSP00000388325:p.Pro1185Leu		49136408	NM_002292	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726488	0.89298	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.33654	1.4;1.4	5.84	5.84	0.93424	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76503	-0.2935	10	0.87932	D	0	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	1185	P55268	LAMB2_HUMAN	L	1185	ENSP00000388325:P1185L;ENSP00000307156:P1185L	ENSP00000307156:P1185L	P	-	2	0	LAMB2	49136408	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.965000	0.87945	2.768000	0.95171	0.561000	0.74099	CCT		0.632	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
BSN	8927	broad.mit.edu	37	3	49692356	49692356	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:49692356G>A	ENST00000296452.4	+	5	5481	c.5367G>A	c.(5365-5367)ggG>ggA	p.G1789G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1789					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.G1789G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCGAAGTGGGCCCCGGGGAA	0.587																																					p.G1789G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5367A	3						.						64.0	71.0	69.0					3																	49692356		2203	4300	6503	49667360	SO:0001819	synonymous_variant	8927	exon5			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5367G>A	3.37:g.49692356G>A			49667360	NM_003458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																				0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
SLC38A3	10991	broad.mit.edu	37	3	50256122	50256122	+	RNA	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:50256122G>A	ENST00000420502.1	+	0	1287									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CAGCAGTCACGCTCACAGTGC	0.622																																					p.T378T												.	.	0			c.G1134A	3						.						74.0	78.0	77.0					3																	50256122		2186	4278	6464	50231126			10991	exon13			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50256122G>A			50231126	NM_006841		Silent	SNP	ENST00000420502.1	37																																																																																					0.622	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841	
DOCK3	1795	broad.mit.edu	37	3	51315142	51315142	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:51315142C>T	ENST00000266037.9	+	26	2803	c.2780C>T	c.(2779-2781)gCg>gTg	p.A927V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	927					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A927V(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTCAGGAGGCGGTAAGAGGG	0.547																																					p.G913G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2739T	3						.						42.0	44.0	44.0					3																	51315142		2052	4183	6235	51290182	SO:0001583	missense	1795	exon26			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2780C>T	3.37:g.51315142C>T	ENSP00000266037:p.Ala927Val		51290182	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936315	0.73442	.	.	ENSG00000088538	ENST00000266037	T	0.66460	-0.21	5.25	5.25	0.73442	.	0.203179	0.53938	D	0.000060	T	0.54679	0.1873	L	0.41236	1.265	0.58432	D	0.999996	P	0.47350	0.894	B	0.32864	0.154	T	0.57808	-0.7747	10	0.29301	T	0.29	.	19.2367	0.93864	0.0:1.0:0.0:0.0	.	927	Q8IZD9	DOCK3_HUMAN	V	927	ENSP00000266037:A927V	ENSP00000266037:A927V	A	+	2	0	DOCK3	51290182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.637000	0.89404	0.585000	0.79938	GCG		0.547	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51392328	51392328	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:51392328T>C	ENST00000266037.9	+	41	4146	c.4123T>C	c.(4123-4125)Tgc>Cgc	p.C1375R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1375	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.C1375R(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGAATACGTGTGCCGTGGCCA	0.542																																					p.V1361A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4082C	3						.						142.0	146.0	145.0					3																	51392328		2100	4222	6322	51367368	SO:0001583	missense	1795	exon41			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4123T>C	3.37:g.51392328T>C	ENSP00000266037:p.Cys1375Arg		51367368	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674273	0.67928	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04917	3.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.13114	0.0318	M	0.64997	1.995	0.80722	D	1	P	0.40398	0.716	B	0.43386	0.418	T	0.00448	-1.1733	10	0.66056	D	0.02	.	15.9796	0.80097	0.0:0.0:0.0:1.0	.	1375	Q8IZD9	DOCK3_HUMAN	R	1375;171	ENSP00000266037:C1375R	ENSP00000266037:C1375R	C	+	1	0	DOCK3	51367368	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.033000	0.88852	2.185000	0.69588	0.528000	0.53228	TGC		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
IQCF1	132141	broad.mit.edu	37	3	51929042	51929042	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:51929042C>T	ENST00000310914.5	-	4	544	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	161								p.R161H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCACAGGAGCGGCACCTCCA	0.597																																					p.R161H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	3						.						109.0	104.0	106.0					3																	51929042		2203	4300	6503	51904082	SO:0001583	missense	132141	exon4			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.482G>A	3.37:g.51929042C>T	ENSP00000307958:p.Arg161His		51904082	NM_152397	Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	0.143	-1.099962	0.01843	.	.	ENSG00000173389	ENST00000310914	T	0.29917	1.55	4.19	1.85	0.25348	.	0.601605	0.16076	N	0.230749	T	0.07007	0.0178	N	0.00793	-1.18	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38520	-0.9657	10	0.02654	T	1	-25.4202	5.4403	0.16504	0.0:0.2339:0.0:0.7661	.	161	Q8N6M8	IQCF1_HUMAN	H	161	ENSP00000307958:R161H	ENSP00000307958:R161H	R	-	2	0	IQCF1	51904082	0.003000	0.15002	0.183000	0.23137	0.724000	0.41520	0.016000	0.13377	0.416000	0.25844	-0.390000	0.06520	CGC		0.597	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397	
TLR9	54106	broad.mit.edu	37	3	52257916	52257916	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:52257916G>T	ENST00000360658.2	-	2	1049	c.416C>A	c.(415-417)cCt>cAt	p.P139H	TLR9_ENST00000597542.1_Missense_Mutation_p.P163H|TLR9_ENST00000494383.1_Silent_p.A292A	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	139					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|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-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 JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|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)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.P139H(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GGGCAGCGCAGGCACAGTCAT	0.577																																					p.P139H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416A	3						.						237.0	224.0	228.0					3																	52257916		2203	4300	6503	52232956	SO:0001583	missense	54106	exon2			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.416C>A	3.37:g.52257916G>T	ENSP00000353874:p.Pro139His		52232956	NM_017442	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398779	0.62177	.	.	ENSG00000239732	ENST00000360658	T	0.30448	1.53	5.57	5.57	0.84162	.	0.000000	0.36234	N	0.002720	T	0.60586	0.2280	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65434	-0.6169	10	0.87932	D	0	.	17.0174	0.86423	0.0:0.0:1.0:0.0	.	236;139	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	139	ENSP00000353874:P139H	ENSP00000353874:P139H	P	-	2	0	TLR9	52232956	1.000000	0.71417	0.986000	0.45419	0.090000	0.18270	6.267000	0.72546	2.623000	0.88846	0.655000	0.94253	CCT		0.577	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1		
ITIH4	3700	broad.mit.edu	37	3	52847502	52847502	+	Missense_Mutation	SNP	G	G	A	rs200028476	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:52847502G>A	ENST00000266041.4	-	24	2824	c.2728C>T	c.(2728-2730)Cgc>Tgc	p.R910C	ITIH4_ENST00000406595.1_Missense_Mutation_p.R880C|ITIH4_ENST00000485816.1_Missense_Mutation_p.R915C|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.R894C	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	910					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.R910C(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)		TCCAGCCTGCGCTCTCTGAAA	0.567													G|||	4	0.000798722	0.0008	0.0	5008	,	,		17293	0.003		0.0	False		,,,				2504	0.0				p.R910C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2728T	3						.						59.0	67.0	64.0					3																	52847502		2203	4300	6503	52822542	SO:0001583	missense	3700	exon24			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.2728C>T	3.37:g.52847502G>A	ENSP00000266041:p.Arg910Cys		52822542	NM_002218	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	13.28|13.28	2.191192|2.191192	0.38707|0.38707	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	.|T;T;T;T	.|0.11604	.|2.76;2.76;2.76;2.76	4.3|4.3	3.41|3.41	0.39046|0.39046	.|Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	.|1.343280	.|0.04903	.|N	.|0.451673	T|T	0.16300|0.16300	0.0392|0.0392	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.64830	.|0.994;0.989;0.989;0.913	.|P;P;P;B	.|0.54590	.|0.756;0.756;0.756;0.187	T|T	0.06807|0.06807	-1.0806|-1.0806	5|10	.|0.38643	.|T	.|0.18	-7.4131|-7.4131	10.4021|10.4021	0.44235|0.44235	0.0:0.1976:0.8024:0.0|0.0:0.1976:0.8024:0.0	.|.	.|880;915;910;894	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	V|C	698|910;894;915;880;868	.|ENSP00000266041:R910C;ENSP00000340520:R894C;ENSP00000417824:R915C;ENSP00000384425:R880C	.|ENSP00000266041:R910C	A|R	-|-	2|1	0|0	ITIH4|ITIH4	52822542|52822542	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.224000|0.224000	0.24922|0.24922	0.891000|0.891000	0.28309|0.28309	1.390000|1.390000	0.46547|0.46547	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.567	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218	
CADPS	8618	broad.mit.edu	37	3	62518673	62518673	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:62518673G>A	ENST00000383710.4	-	13	2513	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	CADPS_ENST00000357948.3_Missense_Mutation_p.R705W|CADPS_ENST00000283269.9_Missense_Mutation_p.R722W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	722					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R722W(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACACCCCCGGACTCCATTT	0.493																																					p.R705W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2113T	3						.						98.0	91.0	93.0					3																	62518673		2203	4300	6503	62493713	SO:0001583	missense	8618	exon13			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2164C>T	3.37:g.62518673G>A	ENSP00000373215:p.Arg722Trp		62493713	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606426|4.606426	0.87157|0.87157	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	5.77|5.77	4.82|4.82	0.62117|0.62117	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61198|0.61198	0.2328|0.2328	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.992;0.993;0.999	T|T	0.65269|0.65269	-0.6209|-0.6209	5|10	.|0.87932	.|D	.|0	.|.	13.4905|13.4905	0.61393|0.61393	0.0:0.0:0.7657:0.2343|0.0:0.0:0.7657:0.2343	.|.	.|705;722;722;722	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	L|W	28|722;722;705;722	.|ENSP00000373215:R722W;ENSP00000350632:R705W;ENSP00000283269:R722W	.|ENSP00000283269:R722W	P|R	-|-	2|1	0|2	CADPS|CADPS	62493713|62493713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	3.316000|3.316000	0.51960|0.51960	2.728000|2.728000	0.93425|0.93425	0.557000|0.557000	0.71058|0.71058	CCG|CGG		0.493	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
ATXN7	6314	broad.mit.edu	37	3	63973887	63973887	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:63973887C>T	ENST00000295900.6	+	9	1798	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P	ATXN7_ENST00000484332.1_Silent_p.P271P|ATXN7_ENST00000487717.1_Silent_p.P416P|ATXN7_ENST00000538065.1_Silent_p.P416P|ATXN7_ENST00000398590.3_Silent_p.P416P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	416	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P416P(3)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACCCGCATCCCGCCCCTCCTA	0.522																																					p.P416P												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C1248T	3						.						110.0	125.0	120.0					3																	63973887		1945	4129	6074	63948927	SO:0001819	synonymous_variant	6314	exon8			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1248C>T	3.37:g.63973887C>T			63948927	NM_001177387	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	CCDS43102.1																																																																																				0.522	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
ROBO2	6092	broad.mit.edu	37	3	77645844	77645844	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:77645844T>C	ENST00000461745.1	+	19	3697	c.2797T>C	c.(2797-2799)Ttg>Ctg	p.L933L	ROBO2_ENST00000332191.8_Silent_p.L933L|ROBO2_ENST00000487694.3_Silent_p.L949L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	933					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.L949L(1)|p.L933L(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)		AGCCACGAGCTTGCCAGTAAA	0.428																																					p.L913P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2738C	3						.						121.0	121.0	121.0					3																	77645844		1840	4099	5939	77728534	SO:0001819	synonymous_variant	6092	exon18			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.2797T>C	3.37:g.77645844T>C			77728534	NM_001128929	O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	4.012	-0.000368	0.07819	.	.	ENSG00000185008	ENST00000471893	.	.	.	6.05	6.05	0.98169	.	0.000000	0.36854	N	0.002377	T	0.41190	0.1148	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.56318	-0.7999	4	.	.	.	.	4.439	0.11564	0.1693:0.1062:0.0:0.7246	.	.	.	.	P	7	.	.	L	+	2	0	ROBO2	77728534	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	3.372000	0.52387	2.311000	0.77944	0.528000	0.53228	CTT		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	broad.mit.edu	37	3	78717135	78717135	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:78717135T>C	ENST00000464233.1	-	14	1977	c.1864A>G	c.(1864-1866)Aaa>Gaa	p.K622E	ROBO1_ENST00000467549.1_Missense_Mutation_p.K586E|ROBO1_ENST00000495273.1_Missense_Mutation_p.K586E|ROBO1_ENST00000436010.2_Missense_Mutation_p.K583E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	622	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.K599E(1)|p.K586E(1)|p.K622E(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGAGTCCTTTAATGGCAGAT	0.418																																					p.K622E												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A1864G	3						.						91.0	88.0	89.0					3																	78717135		1941	4150	6091	78799825	SO:0001583	missense	6091	exon14			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1864A>G	3.37:g.78717135T>C	ENSP00000420321:p.Lys622Glu		78799825	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199955	0.79015	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	N	0.25286	0.73	0.50632	D	0.999883	D;D;D;D;D;D	0.76494	0.994;0.973;0.973;0.999;0.973;0.967	D;P;P;D;P;P	0.70487	0.915;0.867;0.908;0.969;0.908;0.79	T	0.62181	-0.6908	9	.	.	.	.	16.2167	0.82231	0.0:0.0:0.0:1.0	.	586;586;622;586;586;583	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	E	583;586;622;586;586;626;159	ENSP00000406043:K583E;ENSP00000420321:K622E;ENSP00000420637:K586E;ENSP00000417992:K586E;ENSP00000418553:K159E	.	K	-	1	0	ROBO1	78799825	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.113000	0.71553	2.231000	0.72958	0.533000	0.62120	AAA		0.418	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
CADM2	253559	broad.mit.edu	37	3	85961618	85961618	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:85961618G>A	ENST00000407528.2	+	5	660	c.598G>A	c.(598-600)Gcg>Acg	p.A200T	CADM2_ENST00000405615.2_Missense_Mutation_p.A202T|CADM2_ENST00000383699.3_Missense_Mutation_p.A209T	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	200	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A202T(1)|p.A209T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGATGGAGTGGCGGTCATCTG	0.478																																					p.A200T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G598A	3						.						97.0	77.0	84.0					3																	85961618		2203	4300	6503	86044308	SO:0001583	missense	253559	exon5			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.598G>A	3.37:g.85961618G>A	ENSP00000384575:p.Ala200Thr		86044308	NM_001167674	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507620	0.44558	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.74315	-0.83;-0.83;-0.83	5.5	3.47	0.39725	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.359073	0.33005	N	0.005398	T	0.61286	0.2335	N	0.25789	0.76	0.39122	D	0.961685	B;P;P	0.37781	0.101;0.554;0.608	B;B;B	0.40864	0.038;0.154;0.342	T	0.57670	-0.7771	10	0.15952	T	0.53	.	11.221	0.48855	0.1971:0.0:0.8029:0.0	.	202;209;200	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	T	209;200;202	ENSP00000373200:A209T;ENSP00000384575:A200T;ENSP00000384193:A202T	ENSP00000373200:A209T	A	+	1	0	CADM2	86044308	1.000000	0.71417	0.990000	0.47175	0.953000	0.61014	4.407000	0.59754	1.328000	0.45358	0.591000	0.81541	GCG		0.478	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
HTR1F	3355	broad.mit.edu	37	3	88040801	88040801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:88040801C>T	ENST00000319595.4	+	1	956	c.902C>T	c.(901-903)gCa>gTa	p.A301V		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	301					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A301V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATCTTGGGTGCATTTGTAATA	0.373																																					p.A301V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	3						.						74.0	83.0	80.0					3																	88040801		2203	4300	6503	88123491	SO:0001583	missense	3355	exon2			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.902C>T	3.37:g.88040801C>T	ENSP00000322924:p.Ala301Val		88123491	NM_000866		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185870	0.78789	.	.	ENSG00000179097	ENST00000319595	T	0.68903	-0.36	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	L	0.29908	0.895	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	T	0.64820	-0.6317	10	0.13853	T	0.58	.	16.9722	0.86303	0.0:1.0:0.0:0.0	.	301	P30939	5HT1F_HUMAN	V	301	ENSP00000322924:A301V	ENSP00000322924:A301V	A	+	2	0	HTR1F	88123491	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.783000	0.85696	2.607000	0.88179	0.557000	0.71058	GCA		0.373	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
ZNF654	55279	broad.mit.edu	37	3	88189320	88189320	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:88189320A>C	ENST00000309495.5	+	1	1067	c.860A>C	c.(859-861)cAg>cCg	p.Q287P	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	287					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.Q248P(1)|p.Q287P(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGCTTGCCCAGCACACAAAA	0.393																																					p.Q287P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A860C	3						.						118.0	109.0	112.0					3																	88189320		1875	4108	5983	88272010	SO:0001583	missense	55279	exon1			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.860A>C	3.37:g.88189320A>C	ENSP00000312141:p.Gln287Pro		88272010	NM_018293	Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.439456	0.25900	.	.	ENSG00000175105	ENST00000309495	T	0.35973	1.28	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	1.085870	0.06930	N	0.810984	T	0.38746	0.1052	M	0.73430	2.235	0.28701	N	0.90409	P	0.44195	0.828	B	0.28553	0.091	T	0.49103	-0.8974	10	0.31617	T	0.26	.	15.4617	0.75363	1.0:0.0:0.0:0.0	.	287	Q8IZM8	ZN654_HUMAN	P	287	ENSP00000312141:Q287P	ENSP00000312141:Q287P	Q	+	2	0	ZNF654	88272010	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	2.945000	0.49043	2.248000	0.74166	0.533000	0.62120	CAG		0.393	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293	
EPHA3	2042	broad.mit.edu	37	3	89499478	89499478	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:89499478G>A	ENST00000336596.2	+	15	2873	c.2648G>A	c.(2647-2649)cGg>cAg	p.R883Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.R883Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	883					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.R883Q(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)		AAGCTTATCCGGAATCCCGGC	0.473										TSP Lung(6;0.00050)																											p.R883Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2648A	3						.						77.0	70.0	73.0					3																	89499478		2203	4300	6503	89582168	SO:0001583	missense	2042	exon15			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.2648G>A	3.37:g.89499478G>A	ENSP00000337451:p.Arg883Gln		89582168	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226795	0.95173	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.62105	0.05;0.05	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	L	0.35854	1.095	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	T	0.67277	-0.5711	9	.	.	.	.	19.7534	0.96277	0.0:0.0:1.0:0.0	.	883	P29320	EPHA3_HUMAN	Q	883	ENSP00000337451:R883Q;ENSP00000419190:R883Q	.	R	+	2	0	EPHA3	89582168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.673000	0.90976	0.650000	0.86243	CGG		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
CPOX	1371	broad.mit.edu	37	3	98299542	98299542	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:98299542C>T	ENST00000264193.2	-	7	1568	c.1350G>A	c.(1348-1350)agG>agA	p.R450R		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	450					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.R450R(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCACCCAGTCCCTTGGATGGC	0.512																																					p.R450R	Esophageal Squamous(75;7 1223 22300 43648 48951)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1350A	3						.						82.0	74.0	77.0					3																	98299542		2203	4300	6503	99782232	SO:0001819	synonymous_variant	1371	exon7			BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1350G>A	3.37:g.98299542C>T			99782232	NM_000097	A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Silent	SNP	ENST00000264193.2	37	CCDS2932.1																																																																																				0.512	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097	
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aaafs	p.K123fs	FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333																																					p.K122fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.364delA	3						.						55.0	58.0	57.0					3																	180666228		2202	4298	6500	182148922	SO:0001589	frameshift_variant	8087	exon5			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.364delA	3.37:g.180666228delA	ENSP00000350170:p.Lys123fs		182148922	NM_001013438	A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Del	DEL	ENST00000357559.4	37	CCDS3238.1																																																																																				0.333	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
UBXN7	26043	broad.mit.edu	37	3	196096307	196096307	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr3:196096307A>G	ENST00000296328.4	-	7	765	c.691T>C	c.(691-693)Ttg>Ctg	p.L231L	UBXN7_ENST00000428095.1_Silent_p.L69L|UBXN7_ENST00000535858.1_Silent_p.L83L	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	231						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.L231L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CGTGGGTCCAATATGGAAACA	0.338																																					p.L231L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T691C	3						.						91.0	89.0	90.0					3																	196096307		1828	4083	5911	197580704	SO:0001819	synonymous_variant	26043	exon7			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.691T>C	3.37:g.196096307A>G			197580704	NM_015562	D3DXB3|Q6ZP77|Q86X20|Q8N327	Silent	SNP	ENST00000296328.4	37	CCDS43191.1																																																																																				0.338	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353	
MTTP	4547	broad.mit.edu	37	4	100504585	100504585	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:100504585T>G	ENST00000265517.5	+	3	507	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	MTTP_ENST00000457717.1_Missense_Mutation_p.F102V|MTTP_ENST00000422897.2_Missense_Mutation_p.F102V|MTTP_ENST00000511045.1_Missense_Mutation_p.F129V			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	102	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.F102V(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)	GAAGAGCATCTTCAAAGGAAA	0.393																																					p.F102V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T304G	4						.						109.0	118.0	115.0					4																	100504585		2203	4300	6503	100723608	SO:0001583	missense	4547	exon4				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.304T>G	4.37:g.100504585T>G	ENSP00000265517:p.Phe102Val		100723608	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279596	0.80692	.	.	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000422897;ENST00000538053	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.71	5.71	0.89125	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.046786	0.85682	D	0.000000	T	0.53899	0.1825	L	0.40543	1.245	0.47862	D	0.99953	D;D;D	0.71674	0.998;0.957;0.996	D;P;D	0.70935	0.971;0.736;0.913	T	0.50285	-0.8846	9	.	.	.	-10.4316	14.2197	0.65818	0.0:0.0:0.0:1.0	.	129;102;102	E9PBP6;P55157;Q6P5T3	.;MTP_HUMAN;.	V	112;129;102;102;102;102	ENSP00000426755:F112V;ENSP00000427679:F129V;ENSP00000400821:F102V;ENSP00000265517:F102V;ENSP00000407350:F102V	.	F	+	1	0	MTTP	100723608	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.905000	0.56333	2.171000	0.68590	0.533000	0.62120	TTC		0.393	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
TACR3	6870	broad.mit.edu	37	4	104640662	104640662	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:104640662C>T	ENST00000304883.2	-	1	311	c.171G>A	c.(169-171)gcG>gcA	p.A57A		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	57					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.A57A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCAGTCCCAGCGCGGAAGGGG	0.701																																					p.A57A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G171A	4						.						42.0	49.0	47.0					4																	104640662		2203	4299	6502	104860111	SO:0001819	synonymous_variant	6870	exon1			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.171G>A	4.37:g.104640662C>T			104860111	NM_001059	Q0P510	Silent	SNP	ENST00000304883.2	37	CCDS3664.1																																																																																				0.701	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
ALPK1	80216	broad.mit.edu	37	4	113352103	113352103	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:113352103G>T	ENST00000458497.1	+	11	1679	c.1400G>T	c.(1399-1401)tGt>tTt	p.C467F	ALPK1_ENST00000177648.9_Missense_Mutation_p.C467F|ALPK1_ENST00000504176.2_Missense_Mutation_p.C389F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	467							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C467F(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACTTCGGTGTGTGAAGTATTT	0.388																																					p.C467F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1400T	4						.						63.0	65.0	64.0					4																	113352103		2203	4300	6503	113571552	SO:0001583	missense	80216	exon11			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1400G>T	4.37:g.113352103G>T	ENSP00000398048:p.Cys467Phe		113571552	NM_025144	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449958	0.43531	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.27402	1.67;1.67;1.67	5.48	4.59	0.56863	.	0.159204	0.56097	D	0.000025	T	0.30479	0.0766	L	0.50919	1.6	0.47153	D	0.999335	B;B;B	0.24533	0.047;0.105;0.105	B;B;B	0.22880	0.039;0.042;0.029	T	0.10451	-1.0629	10	0.52906	T	0.07	-10.1096	15.069	0.72021	0.0:0.0:0.8576:0.1424	.	389;389;467	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	F	467;467;389	ENSP00000398048:C467F;ENSP00000177648:C467F;ENSP00000426044:C389F	ENSP00000177648:C467F	C	+	2	0	ALPK1	113571552	1.000000	0.71417	0.948000	0.38648	0.985000	0.73830	5.865000	0.69583	2.575000	0.86900	0.655000	0.94253	TGT		0.388	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
UGT8	7368	broad.mit.edu	37	4	115544772	115544772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:115544772G>A	ENST00000310836.6	+	2	1258	c.736G>A	c.(736-738)Gta>Ata	p.V246I	UGT8_ENST00000394511.3_Missense_Mutation_p.V246I	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	246					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.V246I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GTGTACTGACGTAGCACTGGA	0.473																																					p.V246I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G736A	4						.						100.0	102.0	101.0					4																	115544772		2203	4300	6503	115764221	SO:0001583	missense	7368	exon2			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.736G>A	4.37:g.115544772G>A	ENSP00000311648:p.Val246Ile		115764221	NM_001128174	B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264457	0.23136	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.60171	0.21;0.21	5.66	3.95	0.45737	.	0.284298	0.43260	N	0.000582	T	0.50548	0.1622	L	0.55990	1.75	0.30560	N	0.764578	B	0.11235	0.004	B	0.13407	0.009	T	0.53472	-0.8434	10	0.51188	T	0.08	.	9.4626	0.38794	0.2765:0.0:0.7235:0.0	.	246	Q16880	CGT_HUMAN	I	246	ENSP00000311648:V246I;ENSP00000378019:V246I	ENSP00000311648:V246I	V	+	1	0	UGT8	115764221	0.993000	0.37304	0.227000	0.23927	0.582000	0.36321	1.906000	0.39887	0.875000	0.35847	0.585000	0.79938	GTA		0.473	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
SEC24D	9871	broad.mit.edu	37	4	119736870	119736870	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:119736870C>T	ENST00000280551.6	-	5	647	c.409G>A	c.(409-411)Gct>Act	p.A137T	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.A137T			O94855	SC24D_HUMAN	SEC24 family member D	137	Pro-rich.				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.A137T(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						CTTGGAGGAGCCATGCCTGAA	0.512																																					p.A137T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	4						.						128.0	130.0	130.0					4																	119736870		2203	4300	6503	119956318	SO:0001583	missense	9871	exon5			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.409G>A	4.37:g.119736870C>T	ENSP00000280551:p.Ala137Thr		119956318	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487567	0.84854	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000503683	T;T;T	0.76709	-1.04;-1.04;0.75	5.71	3.78	0.43462	.	0.667612	0.13466	N	0.385773	T	0.59473	0.2196	N	0.14661	0.345	0.30855	N	0.734206	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.53669	-0.8406	10	0.24483	T	0.36	-2.3038	7.9837	0.30198	0.0:0.782:0.0:0.218	.	137;137	O94855-2;O94855	.;SC24D_HUMAN	T	137	ENSP00000280551:A137T;ENSP00000369059:A137T;ENSP00000426309:A137T	ENSP00000280551:A137T	A	-	1	0	SEC24D	119956318	0.322000	0.24634	0.038000	0.18304	0.964000	0.63967	0.460000	0.21924	0.606000	0.29965	0.655000	0.94253	GCT		0.512	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
SYNPO2	171024	broad.mit.edu	37	4	119978889	119978889	+	Silent	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:119978889A>C	ENST00000307142.4	+	5	3782	c.3586A>C	c.(3586-3588)Agg>Cgg	p.R1196R	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.R1196R(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCATGTGGAAGGCAAGAGTA	0.458																																					p.R1196R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A3586C	4						.						85.0	82.0	83.0					4																	119978889		2203	4300	6503	120198337	SO:0001819	synonymous_variant	171024	exon5			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3586A>C	4.37:g.119978889A>C			120198337	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000307142.4	37	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	A	0.999	-0.691487	0.03303	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.76	4.57	0.56435	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	-8.9935	9.4465	0.38701	0.8458:0.0:0.1542:0.0	.	.	.	.	T	1089	.	.	K	+	2	0	SYNPO2	120198337	0.999000	0.42202	0.036000	0.18154	0.342000	0.28953	4.096000	0.57734	1.014000	0.39417	0.533000	0.62120	AAG		0.458	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1		
TNIP3	79931	broad.mit.edu	37	4	122078382	122078382	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:122078382G>A	ENST00000509841.1	-	7	539	c.461C>T	c.(460-462)aCg>aTg	p.T154M	TNIP3_ENST00000057513.3_Missense_Mutation_p.T77M|TNIP3_ENST00000507879.1_Missense_Mutation_p.T147M|TNIP3_ENST00000454328.1_Missense_Mutation_p.T77M	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.T77M(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTCCAGTTTCGTCTTCAGCTC	0.552																																					p.T77M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230T	4						.						189.0	205.0	199.0					4																	122078382		2203	4300	6503	122297832	SO:0001583	missense	79931	exon6			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.461C>T	4.37:g.122078382G>A	ENSP00000426613:p.Thr154Met		122297832	NM_001128843		Missense_Mutation	SNP	ENST00000509841.1	37	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	2.474	-0.321298	0.05386	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	4.38	-2.7	0.06004	.	1.074750	0.07070	N	0.835335	T	0.61060	0.2317	L	0.39397	1.21	0.09310	N	1	D;P;B	0.76494	0.999;0.621;0.421	D;B;B	0.71870	0.975;0.075;0.05	T	0.53872	-0.8377	10	0.41790	T	0.15	-0.0232	5.3289	0.15922	0.518:0.0:0.3386:0.1435	.	147;77;77	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	M	77;77;147;154	ENSP00000057513:T77M;ENSP00000411817:T77M;ENSP00000427106:T147M;ENSP00000426613:T154M	ENSP00000057513:T77M	T	-	2	0	TNIP3	122297832	0.603000	0.26924	0.000000	0.03702	0.015000	0.08874	-0.125000	0.10579	-0.674000	0.05253	-1.202000	0.01658	ACG		0.552	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	
KIAA1109	84162	broad.mit.edu	37	4	123257357	123257357	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:123257357A>T	ENST00000264501.4	+	70	12232	c.11859A>T	c.(11857-11859)aaA>aaT	p.K3953N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K3953N			Q2LD37	K1109_HUMAN	KIAA1109	3953					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.K3953N(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						CCAAAGGAAAAGGAAGTGGAG	0.323																																					p.K3953N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A11859T	4						.						73.0	67.0	69.0					4																	123257357		1814	4067	5881	123476807	SO:0001583	missense	84162	exon68			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.11859A>T	4.37:g.123257357A>T	ENSP00000264501:p.Lys3953Asn		123476807	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.40|19.40	3.820347|3.820347	0.71028|0.71028	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	T|T;T;T	0.34859|0.33865	1.34|2.39;2.39;1.39	5.54|5.54	3.14|3.14	0.36123|0.36123	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.45518|0.45518	0.1346|0.1346	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.80764	.|0.994;0.987	T|T	0.32640|0.32640	-0.9899|-0.9899	8|10	0.56958|0.51188	D|T	0.05|0.08	.|.	7.9075|7.9075	0.29771|0.29771	0.7769:0.0:0.2231:0.0|0.7769:0.0:0.2231:0.0	.|.	.|3952;3953	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	M|N	329|3953;3953;622	ENSP00000304374:K329M|ENSP00000264501:K3953N;ENSP00000373390:K3953N;ENSP00000410874:K622N	ENSP00000304374:K329M|ENSP00000264501:K3953N	K|K	+|+	2|3	0|2	KIAA1109|KIAA1109	123476807|123476807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.897000|3.897000	0.56273|0.56273	0.929000|0.929000	0.37192|0.37192	-0.263000|-0.263000	0.10527|0.10527	AAG|AAA		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ADAD1	132612	broad.mit.edu	37	4	123332487	123332487	+	Missense_Mutation	SNP	T	T	A	rs542529171		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:123332487T>A	ENST00000296513.2	+	9	1144	c.959T>A	c.(958-960)aTc>aAc	p.I320N	ADAD1_ENST00000388724.2_Missense_Mutation_p.I309N|ADAD1_ENST00000388725.2_Missense_Mutation_p.I302N	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	320	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.I320N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAACAGAATATCAACATTTGC	0.343																																					p.I320N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T959A	4						.						96.0	93.0	94.0					4																	123332487		2203	4299	6502	123551937	SO:0001583	missense	132612	exon9			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.959T>A	4.37:g.123332487T>A	ENSP00000296513:p.Ile320Asn		123551937	NM_139243	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180160	0.57800	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.94417	-3.42;-3.42;-3.42	5.74	3.36	0.38483	Adenosine deaminase/editase (3);	0.165679	0.51477	D	0.000092	D	0.96027	0.8706	M	0.80183	2.485	0.43942	D	0.996605	P;D	0.56287	0.896;0.975	P;P	0.59424	0.857;0.854	D	0.95441	0.8525	10	0.72032	D	0.01	-4.0869	9.5962	0.39576	0.0:0.1407:0.0:0.8593	.	309;320	Q96M93-2;Q96M93	.;ADAD1_HUMAN	N	320;309;302	ENSP00000296513:I320N;ENSP00000373376:I309N;ENSP00000373377:I302N	ENSP00000296513:I320N	I	+	2	0	ADAD1	123551937	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.068000	0.41471	1.014000	0.39417	-0.353000	0.07706	ATC		0.343	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
SLC25A31	83447	broad.mit.edu	37	4	128651862	128651862	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:128651862G>A	ENST00000281154.4	+	1	330	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	54					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.S54S(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGGCGTCGTCGAAGCAGATCA	0.682																																					p.S54S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G162A	4						.						41.0	38.0	39.0					4																	128651862		2203	4299	6502	128871312	SO:0001819	synonymous_variant	83447	exon1			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.162G>A	4.37:g.128651862G>A			128871312	NM_031291		Silent	SNP	ENST00000281154.4	37	CCDS3733.1																																																																																				0.682	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
BOD1L1	259282	broad.mit.edu	37	4	13606480	13606480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:13606480G>A	ENST00000040738.5	-	10	2179	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	682	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R682C(1)									ATTTCTGAGCGTTCTACTTGC	0.398																																					p.R682C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2044T	4						.						264.0	278.0	273.0					4																	13606480		2203	4300	6503	13215578	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.2044C>T	4.37:g.13606480G>A	ENSP00000040738:p.Arg682Cys		13215578	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705713	0.30232	.	.	ENSG00000038219	ENST00000040738	T	0.10668	2.85	5.71	3.8	0.43715	.	0.158511	0.30252	N	0.010050	T	0.06645	0.0170	L	0.27053	0.805	0.21652	N	0.999608	B	0.30179	0.271	B	0.19148	0.024	T	0.28427	-1.0044	10	0.87932	D	0	-0.8342	6.2574	0.20881	0.0968:0.0:0.5953:0.3079	.	682	Q8NFC6	BOD1L_HUMAN	C	682	ENSP00000040738:R682C	ENSP00000040738:R682C	R	-	1	0	BOD1L	13215578	0.801000	0.28930	0.171000	0.22900	0.105000	0.19272	2.639000	0.46570	1.408000	0.46895	0.563000	0.77884	CGC		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
LARP1B	55132	broad.mit.edu	37	4	129028387	129028387	+	Missense_Mutation	SNP	C	C	T	rs187112542		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:129028387C>T	ENST00000326639.6	+	9	1118	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	LARP1B_ENST00000441387.1_Missense_Mutation_p.R303C|LARP1B_ENST00000427266.1_Missense_Mutation_p.R303C|LARP1B_ENST00000264584.5_Missense_Mutation_p.R256C|LARP1B_ENST00000512292.1_Missense_Mutation_p.R303C|LARP1B_ENST00000394288.3_Missense_Mutation_p.R303C|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Missense_Mutation_p.R303C	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	303						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R303C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CCCTCCTCCACGCAGTGTGCC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		16477	0.001		0.0	False		,,,				2504	0.0				p.R303C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907T	4						.						88.0	91.0	90.0					4																	129028387		2203	4300	6503	129247837	SO:0001583	missense	55132	exon9				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.907C>T	4.37:g.129028387C>T	ENSP00000321997:p.Arg303Cys		129247837	NM_178043	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	9.608|9.608	1.130582|1.130582	0.21041|0.21041	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T;T;T|.	0.46451|.	1.9;1.49;1.48;0.91;0.87;1.89;1.9;1.49|.	5.38|5.38	3.65|3.65	0.41850|0.41850	.|.	0.402529|.	0.25792|.	N|.	0.028276|.	T|T	0.31358|0.31358	0.0794|0.0794	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B;B|.	0.19583|.	0.008;0.014;0.013;0.013;0.037|.	B;B;B;B;B|.	0.14023|.	0.003;0.006;0.006;0.006;0.01|.	T|T	0.05468|0.05468	-1.0883|-1.0883	10|5	0.48119|.	T|.	0.1|.	.|.	7.396|7.396	0.26936|0.26936	0.1383:0.7087:0.0:0.153|0.1383:0.7087:0.0:0.153	.|.	256;303;303;303;303|.	D6RJB0;Q659C4;G3XAJ5;Q659C4-3;G3V0E9|.	.;LAR1B_HUMAN;.;.;.|.	C|M	303;303;256;303;303;256;303;303|271	ENSP00000321997:R303C;ENSP00000422850:R303C;ENSP00000427281:R256C;ENSP00000377829:R303C;ENSP00000390395:R303C;ENSP00000264584:R256C;ENSP00000396521:R303C;ENSP00000403586:R303C|.	ENSP00000264584:R256C|.	R|T	+|+	1|2	0|0	LARP1B|LARP1B	129247837|129247837	0.024000|0.024000	0.19004|0.19004	0.980000|0.980000	0.43619|0.43619	0.669000|0.669000	0.39330|0.39330	1.666000|1.666000	0.37460|0.37460	0.820000|0.820000	0.34516|0.34516	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.428	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
PCDH10	57575	broad.mit.edu	37	4	134072936	134072936	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:134072936C>T	ENST00000264360.5	+	1	2467	c.1641C>T	c.(1639-1641)gaC>gaT	p.D547D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	547	Cadherin 5. {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.D547D(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAGCCCGGGACGCTGGCAGCC	0.577																																					p.D547D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1641T	4						.						50.0	56.0	54.0					4																	134072936		2074	4080	6154	134292386	SO:0001819	synonymous_variant	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1641C>T	4.37:g.134072936C>T			134292386	NM_032961	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																				0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
RNF150	57484	broad.mit.edu	37	4	142053774	142053774	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:142053774G>A	ENST00000515673.2	-	1	222	c.189C>T	c.(187-189)ggC>ggT	p.G63G	RNF150_ENST00000507500.1_Silent_p.G63G|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000306799.3_Silent_p.G63G			Q9ULK6	RN150_HUMAN	ring finger protein 150	63	Poly-Gly.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G63G(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCTccgcgccgccgccgcccg	0.726																																					p.G63G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C189T	4						.						3.0	4.0	4.0					4																	142053774		1757	3625	5382	142273224	SO:0001819	synonymous_variant	57484	exon1			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.189C>T	4.37:g.142053774G>A			142273224	NM_020724	Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	CCDS34065.1																																																																																				0.726	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
GYPB	2994	broad.mit.edu	37	4	144922413	144922413	+	Missense_Mutation	SNP	T	T	G	rs180889318		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:144922413T>G	ENST00000502664.1	-	2	112	c.61A>C	c.(61-63)Agt>Cgt	p.S21R	GYPB_ENST00000513128.1_Intron|GYPB_ENST00000429670.2_Missense_Mutation_p.S21R|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Missense_Mutation_p.S21R|GYPB_ENST00000510196.2_5'UTR	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	21						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S21R(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TCAGTGGTACTTAATGCTGAT	0.353													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19581	0.0		0.0	False		,,,				2504	0.0				p.S21R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A61C	4						.	T	ARG/SER	1,4391	2.1+/-5.4	0,1,2195	134.0	166.0	155.0		61	-3.1	0.0	4		155	0,8600		0,0,4300	no	missense	GYPB	NM_002100.4	110	0,1,6495	GG,GT,TT		0.0,0.0228,0.0077		21/92	144922413	1,12991	2196	4300	6496	145141863	SO:0001583	missense	2994	exon2				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.61A>C	4.37:g.144922413T>G	ENSP00000427690:p.Ser21Arg		145141863	NM_002100	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	CCDS54809.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	10.94	1.493197	0.26774	2.28E-4	0.0	ENSG00000250361	ENST00000283126;ENST00000502664;ENST00000429670	T;T;T	0.16897	2.31;2.31;2.88	1.55	-3.1	0.05315	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.09310	N	1	D	0.60160	0.987	D	0.64687	0.928	T	0.13953	-1.0490	8	0.87932	D	0	.	2.7513	0.05281	0.2118:0.3844:0.0:0.4038	.	21	E2QBW7	.	R	21	ENSP00000283126:S21R;ENSP00000427690:S21R;ENSP00000394200:S21R	ENSP00000283126:S21R	S	-	1	0	GYPB	145141863	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.529000	0.02223	-1.241000	0.02526	0.113000	0.15668	AGT		0.353	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364791.1	NM_002100	
PRMT9	90826	broad.mit.edu	37	4	148560145	148560145	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:148560145G>A	ENST00000322396.6	-	11	2530	c.2288C>T	c.(2287-2289)aCt>aTt	p.T763I	PRMT10_ENST00000541232.1_Missense_Mutation_p.T650I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		763	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.T763I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAAATACGGAGTCATTAAATC	0.338																																					p.T763I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2288T	4						.						100.0	101.0	101.0					4																	148560145		2203	4300	6503	148779595	SO:0001583	missense	90826	exon11																														ENST00000322396.6:c.2288C>T	4.37:g.148560145G>A	ENSP00000314396:p.Thr763Ile		148779595	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474185	0.43942	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.24538	1.85;1.85	4.95	2.04	0.26737	.	0.217664	0.47455	D	0.000233	T	0.13670	0.0331	N	0.22421	0.69	0.28292	N	0.923519	P	0.43287	0.802	B	0.35413	0.202	T	0.12477	-1.0546	10	0.62326	D	0.03	-3.3931	8.5226	0.33285	0.0:0.2157:0.5172:0.2671	.	763	Q6P2P2	ANM10_HUMAN	I	763;650	ENSP00000314396:T763I;ENSP00000439508:T650I	ENSP00000314396:T763I	T	-	2	0	PRMT10	148779595	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.105000	0.41825	1.172000	0.42781	-0.182000	0.12963	ACT		0.338	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
KIAA0922	23240	broad.mit.edu	37	4	154504723	154504723	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:154504723G>A	ENST00000409663.3	+	11	1011	c.959G>A	c.(958-960)cGc>cAc	p.R320H	KIAA0922_ENST00000409959.3_Missense_Mutation_p.R320H|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R320H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	320						integral component of membrane (GO:0016021)		p.R172H(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGGATATACGCCATTTCTCA	0.383																																					p.R320H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959A	4						.						100.0	99.0	99.0					4																	154504723		2203	4300	6503	154724173	SO:0001583	missense	23240	exon11			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.959G>A	4.37:g.154504723G>A	ENSP00000386574:p.Arg320His		154724173	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.745280	0.00669	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18174	2.49;2.23;2.5;2.23	5.78	-0.822	0.10819	.	0.545887	0.20757	N	0.086244	T	0.06645	0.0170	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.30416	-0.9979	10	0.45353	T	0.12	-5.6332	10.9548	0.47351	0.6274:0.0:0.3726:0.0	.	320;320;320	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	320;320;320;181	ENSP00000386574:R320H;ENSP00000409663:R320H;ENSP00000386787:R320H;ENSP00000240487:R181H	ENSP00000240487:R181H	R	+	2	0	KIAA0922	154724173	0.606000	0.26949	0.192000	0.23308	0.010000	0.07245	0.707000	0.25704	-0.333000	0.08476	-1.099000	0.02127	CGC		0.383	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
DCHS2	54798	broad.mit.edu	37	4	155156384	155156384	+	Silent	SNP	G	G	A	rs200455137		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:155156384G>A	ENST00000357232.4	-	25	8054	c.8055C>T	c.(8053-8055)gaC>gaT	p.D2685D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2685D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGAGAGCTGGTCTGAGTCCC	0.547																																					p.D2685D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8055T	4						.						82.0	74.0	77.0					4																	155156384		2203	4300	6503	155375834	SO:0001819	synonymous_variant	54798	exon25			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.8055C>T	4.37:g.155156384G>A			155375834	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.547	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
GLRB	2743	broad.mit.edu	37	4	158091723	158091723	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:158091723A>G	ENST00000264428.4	+	10	1607	c.1337A>G	c.(1336-1338)aAc>aGc	p.N446S	GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000509282.1_Missense_Mutation_p.N446S|GLRB_ENST00000512619.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	446					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	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)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.N446S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GAAGTTAACAACGGACTTGGG	0.413																																					p.N446S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1337G	4						.						108.0	105.0	106.0					4																	158091723		2203	4300	6503	158311173	SO:0001583	missense	2743	exon10			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1337A>G	4.37:g.158091723A>G	ENSP00000264428:p.Asn446Ser		158311173	NM_001166060	A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.772385	0.31411	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.83335	-1.71;-1.71	5.94	5.94	0.96194	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.337678	0.37715	N	0.001972	T	0.62109	0.2401	N	0.02011	-0.69	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.62374	-0.6868	10	0.08837	T	0.75	.	16.3998	0.83635	1.0:0.0:0.0:0.0	.	446	P48167	GLRB_HUMAN	S	446	ENSP00000264428:N446S;ENSP00000427186:N446S	ENSP00000264428:N446S	N	+	2	0	GLRB	158311173	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	3.215000	0.51169	2.275000	0.75901	0.528000	0.53228	AAC		0.413	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	
PALLD	23022	broad.mit.edu	37	4	169604223	169604223	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:169604223T>C	ENST00000505667.1	+	5	1402	c.1229T>C	c.(1228-1230)gTg>gCg	p.V410A	PALLD_ENST00000512127.1_Missense_Mutation_p.V28A|PALLD_ENST00000333488.4_Missense_Mutation_p.V287A|PALLD_ENST00000335742.7_Missense_Mutation_p.V28A|PALLD_ENST00000261509.6_Missense_Mutation_p.V410A			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	410					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.V28A(1)|p.V410A(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ACCACAGCTGTGATTCAACCA	0.433									Pancreatic Cancer, Familial Clustering of																												p.V410A	Esophageal Squamous(109;1482 1532 18347 40239 51172)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1229C	4						.						70.0	62.0	65.0					4																	169604223		2203	4300	6503	169840798	SO:0001583	missense	23022	exon5	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1229T>C	4.37:g.169604223T>C	ENSP00000425556:p.Val410Ala		169840798	NM_016081	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691669	0.48097	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000504519;ENST00000512127;ENST00000513245;ENST00000503457	T;T;T;T;T;T;T;D	0.90504	-0.08;-0.03;0.19;-0.22;-0.09;-1.13;0.03;-2.68	5.94	5.94	0.96194	.	0.424710	0.14282	U	0.329473	D	0.90807	0.7113	L	0.59436	1.845	0.36283	D	0.855872	D;B;B	0.55605	0.972;0.021;0.24	P;B;B	0.51615	0.675;0.029;0.067	D	0.88229	0.2902	10	0.02654	T	1	.	16.3947	0.83586	0.0:0.0:0.0:1.0	.	410;28;410	B7ZMM5;B3KTG2;B2RTX2	.;.;.	A	410;28;410;389;287;28;28;28;28	ENSP00000261509:V410A;ENSP00000336735:V28A;ENSP00000425556:V410A;ENSP00000423063:V389A;ENSP00000328945:V287A;ENSP00000424121:V28A;ENSP00000426947:V28A;ENSP00000424288:V28A	ENSP00000261509:V410A	V	+	2	0	PALLD	169840798	1.000000	0.71417	0.999000	0.59377	0.051000	0.14879	6.362000	0.73077	2.272000	0.75746	0.459000	0.35465	GTG		0.433	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
WDR17	116966	broad.mit.edu	37	4	177094469	177094469	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:177094469A>G	ENST00000280190.4	+	27	3569	c.3413A>G	c.(3412-3414)gAc>gGc	p.D1138G	WDR17_ENST00000508596.1_Missense_Mutation_p.D1099G|WDR17_ENST00000507824.2_Missense_Mutation_p.D1113G|WDR17_ENST00000393643.2_Missense_Mutation_p.D1114G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1138								p.D1138G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CCTGTTCTTGACCTACTGAGC	0.318																																					p.D1099G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3296G	4						.						95.0	91.0	92.0					4																	177094469		2203	4300	6503	177331463	SO:0001583	missense	116966	exon25			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3413A>G	4.37:g.177094469A>G	ENSP00000280190:p.Asp1138Gly		177331463	NM_181265	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.082314|4.082314	0.76528|0.76528	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.60797|.	0.19;0.23;0.16|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.057631|.	0.64402|.	D|.	0.000003|.	T|.	0.61413|.	0.2345|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.991;0.999;0.999|.	P;D;D|.	0.81914|.	0.785;0.995;0.995|.	T|.	0.58183|.	-0.7681|.	10|.	0.66056|.	D|.	0.02|.	-13.5508|-13.5508	15.7271|15.7271	0.77770|0.77770	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1114;1099;1138|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	G|W	1099;1114;1138;1114|372	ENSP00000422763:D1099G;ENSP00000377258:D1114G;ENSP00000280190:D1138G|.	ENSP00000280190:D1138G|.	D|X	+|+	2|3	0|0	WDR17|WDR17	177331463|177331463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.702000|0.702000	0.40608|0.40608	8.414000|8.414000	0.90238|0.90238	2.123000|2.123000	0.65237|0.65237	0.477000|0.477000	0.44152|0.44152	GAC|TGA		0.318	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
ASB5	140458	broad.mit.edu	37	4	177190190	177190190	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:177190190G>T	ENST00000296525.3	-	1	183	c.70C>A	c.(70-72)Ctg>Atg	p.L24M		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	24					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L24M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AAACAGAACAGCGAAAGTATT	0.433																																					p.L24M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C70A	4						.						106.0	99.0	102.0					4																	177190190		2203	4300	6503	177427184	SO:0001583	missense	140458	exon1			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.70C>A	4.37:g.177190190G>T	ENSP00000296525:p.Leu24Met		177427184	NM_080874	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147369	0.77888	.	.	ENSG00000164122	ENST00000296525	T	0.45668	0.89	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60561	-0.7239	10	0.66056	D	0.02	-17.263	13.3532	0.60613	0.0716:0.0:0.9284:0.0	.	24	Q8WWX0	ASB5_HUMAN	M	24	ENSP00000296525:L24M	ENSP00000296525:L24M	L	-	1	2	ASB5	177427184	1.000000	0.71417	0.120000	0.21714	0.803000	0.45373	8.050000	0.89445	2.779000	0.95612	0.591000	0.81541	CTG		0.433	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
TENM3	55714	broad.mit.edu	37	4	183245273	183245273	+	Missense_Mutation	SNP	C	C	T	rs558963430		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:183245273C>T	ENST00000511685.1	+	2	223	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	TENM3_ENST00000406950.2_Missense_Mutation_p.R34W			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	34	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R34W(1)									TGAGGAGTGCCGGGTACCCAC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20914	0.0		0.0	False		,,,				2504	0.001				p.R34W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100T	4						.						114.0	117.0	116.0					4																	183245273		1965	4157	6122	183482267	SO:0001583	missense	55714	exon1			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.100C>T	4.37:g.183245273C>T	ENSP00000424226:p.Arg34Trp		183482267	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700976	0.68501	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.35236	1.32;1.32;1.32	5.65	0.201	0.15186	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.53302	0.1788	L	0.55481	1.735	0.31587	N	0.654375	D;D	0.89917	1.0;0.999	D;P	0.68192	0.956;0.875	T	0.63773	-0.6561	9	0.87932	D	0	.	16.1397	0.81513	0.4393:0.5607:0.0:0.0	.	34;34	D6RGC5;Q9P273	.;TEN3_HUMAN	W	34	ENSP00000421320:R34W;ENSP00000424226:R34W;ENSP00000385276:R34W	ENSP00000385276:R34W	R	+	1	2	ODZ3	183482267	0.958000	0.32768	0.849000	0.33467	0.919000	0.55068	1.511000	0.35801	-0.062000	0.13088	-0.266000	0.10368	CGG		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TRAPPC11	60684	broad.mit.edu	37	4	184585067	184585067	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:184585067C>A	ENST00000334690.6	+	2	249	c.47C>A	c.(46-48)cCt>cAt	p.P16H	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.P16H	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	16					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.P16H(1)									TGTTGCCGGCCTATGGCCTTT	0.443																																					p.P16H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C47A	4						.						90.0	88.0	89.0					4																	184585067		2203	4300	6503	184822061	SO:0001583	missense	60684	exon2				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.47C>A	4.37:g.184585067C>A	ENSP00000335371:p.Pro16His		184822061	NM_199053	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251201	0.80135	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86643	0.1893	9	0.72032	D	0.01	.	19.721	0.96143	0.0:1.0:0.0:0.0	.	16;16	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	H	16	.	ENSP00000335371:P16H	P	+	2	0	C4orf41	184822061	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.578000	0.82498	2.749000	0.94314	0.655000	0.94253	CCT		0.443	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
ZNF721	170960	broad.mit.edu	37	4	436840	436840	+	Silent	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:436840G>T	ENST00000338977.5	-	2	1428	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.P472P|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	460					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.P242P(1)|p.P472P(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATTTGTAGGGTTTCTTTC	0.363																																					p.P472P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1416A	4						.						60.0	64.0	62.0					4																	436840		2054	4234	6288	426840	SO:0001819	synonymous_variant	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1380C>A	4.37:g.436840G>T			426840	NM_133474	Q69YG7	Silent	SNP	ENST00000338977.5	37																																																																																					0.363	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
WHSC1	7468	broad.mit.edu	37	4	1953849	1953849	+	Silent	SNP	G	G	A	rs375609366		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:1953849G>A	ENST00000382895.3	+	13	2459	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	WHSC1_ENST00000382888.3_5'UTR|WHSC1_ENST00000382892.2_Silent_p.P676P|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Silent_p.P676P|WHSC1_ENST00000508803.1_Silent_p.P676P	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	676					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.P676P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTGAGAAGCCGGGCAGCCTCC	0.647			T	IGH@	MM								G|||	0	0.0	0.0	0.0	5008	,	,		15212	0.0		0.0	False		,,,				2504	0.0				p.P676P			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2028A	4						.	G	,,,	0,4406		0,0,2203	49.0	48.0	49.0		2028,2028,2028,2028	-10.6	0.0	4		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WHSC1	NM_001042424.2,NM_133330.2,NM_133331.2,NM_133335.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	676/1366,676/1366,676/1366,676/1366	1953849	1,13005	2203	4300	6503	1923647	SO:0001819	synonymous_variant	7468	exon12			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2028G>A	4.37:g.1953849G>A			1923647	NM_133331	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	8.724	0.915156	0.17907	0.0	1.16E-4	ENSG00000109685	ENST00000514329	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56432	-0.7980	4	.	.	.	.	2.664	0.05034	0.1941:0.3155:0.3189:0.1716	.	.	.	.	R	89	.	.	G	+	1	0	WHSC1	1923647	0.000000	0.05858	0.006000	0.13384	0.977000	0.68977	-6.632000	0.00059	-4.823000	0.00030	-0.247000	0.11927	GGG		0.647	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
HTT	3064	broad.mit.edu	37	4	3215779	3215779	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:3215779G>T	ENST00000355072.5	+	50	7014	c.6869G>T	c.(6868-6870)gGc>gTc	p.G2290V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2290					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.G2290V(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)		CAGCTGCCTGGCCTCTGGAGC	0.617																																					p.G2290V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6869T	4						.						45.0	51.0	49.0					4																	3215779		2104	4216	6320	3185577	SO:0001583	missense	3064	exon50			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.6869G>T	4.37:g.3215779G>T	ENSP00000347184:p.Gly2290Val		3185577	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841916	0.32513	.	.	ENSG00000197386	ENST00000355072	T	0.05025	3.51	5.7	2.94	0.34122	.	0.570839	0.19456	N	0.113819	T	0.05868	0.0153	L	0.36672	1.1	0.09310	N	0.999999	B	0.25351	0.124	B	0.24541	0.054	T	0.30563	-0.9974	10	0.52906	T	0.07	.	8.0366	0.30496	0.1352:0.3717:0.4931:0.0	.	2290	P42858	HD_HUMAN	V	2290	ENSP00000347184:G2290V	ENSP00000347184:G2290V	G	+	2	0	HTT	3185577	0.001000	0.12720	0.441000	0.26858	0.867000	0.49689	0.636000	0.24644	0.762000	0.33152	0.655000	0.94253	GGC		0.617	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
KIAA0232	9778	broad.mit.edu	37	4	6865335	6865335	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:6865335C>A	ENST00000307659.5	+	7	3681	c.3226C>A	c.(3226-3228)Ctc>Atc	p.L1076I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L1076I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1076							ATP binding (GO:0005524)	p.L1076I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAAATCAATCCTCTGTTCTGA	0.428																																					p.L1076I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3226A	4						.						102.0	96.0	98.0					4																	6865335		1880	4113	5993	6916236	SO:0001583	missense	9778	exon7			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3226C>A	4.37:g.6865335C>A	ENSP00000303928:p.Leu1076Ile		6916236	NM_014743	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885303	0.51908	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.62723	1.935	0.45502	D	0.998462	P	0.51351	0.944	B	0.44108	0.441	T	0.55995	-0.8052	9	0.66056	D	0.02	-17.7439	9.3476	0.38118	0.0:0.7783:0.1462:0.0755	.	1076	Q92628	K0232_HUMAN	I	1076	.	ENSP00000303928:L1076I	L	+	1	0	KIAA0232	6916236	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.303000	0.33470	1.457000	0.47850	0.655000	0.94253	CTC		0.428	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
AFAP1	60312	broad.mit.edu	37	4	7770702	7770702	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:7770702A>C	ENST00000360265.4	-	15	2269	c.2035T>G	c.(2035-2037)Tcg>Gcg	p.S679A	AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.S679A|AFAP1_ENST00000420658.1_Missense_Mutation_p.S763A|AFAP1_ENST00000382543.3_Missense_Mutation_p.S763A			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	679						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.S679A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GAGATGGGCGAGTTTTCCAGG	0.622																																					p.S763A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2287G	4						.						87.0	103.0	97.0					4																	7770702		2203	4300	6503	7821602	SO:0001583	missense	60312	exon17			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.2035T>G	4.37:g.7770702A>C	ENSP00000353402:p.Ser679Ala		7821602	NM_001134647	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002636	0.74932	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.15256	2.46;2.44;2.46;2.44	4.48	4.48	0.54585	.	0.145925	0.47455	D	0.000223	T	0.36826	0.0981	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.64830	0.994;0.962	D;P	0.70716	0.97;0.626	T	0.07252	-1.0782	10	0.39692	T	0.17	-17.9108	13.7826	0.63091	1.0:0.0:0.0:0.0	.	763;679	E9PDT7;Q8N556	.;AFAP1_HUMAN	A	679;763;679;763	ENSP00000353402:S679A;ENSP00000410689:S763A;ENSP00000351245:S679A;ENSP00000371983:S763A	ENSP00000351245:S679A	S	-	1	0	AFAP1	7821602	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.185000	0.89704	1.652000	0.50683	0.459000	0.35465	TCG		0.622	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
ACOX3	8310	broad.mit.edu	37	4	8407708	8407708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:8407708delT	ENST00000356406.5	-	7	827	c.750delA	c.(748-750)aaafs	p.K250fs	ACOX3_ENST00000503233.1_Frame_Shift_Del_p.K250fs|ACOX3_ENST00000413009.2_Frame_Shift_Del_p.K250fs	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	250					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.K250fs*25(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCTGCCCGAGTTTTTTTCCTA	0.542																																					p.K250fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.750delA	4						.						190.0	180.0	183.0					4																	8407708		2203	4300	6503	8458608	SO:0001589	frameshift_variant	8310	exon7			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.750delA	4.37:g.8407708delT	ENSP00000348775:p.Lys250fs		8458608	NM_003501	Q96AJ8	Frame_Shift_Del	DEL	ENST00000356406.5	37	CCDS3401.1																																																																																				0.542	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
SLC2A9	56606	broad.mit.edu	37	4	9892308	9892308	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:9892308T>A	ENST00000264784.3	-	9	1194	c.1141A>T	c.(1141-1143)Aga>Tga	p.R381*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.R352*|SLC2A9_ENST00000506583.1_Nonsense_Mutation_p.R352*	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	381					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.R381*(1)|p.R352*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGGAGGGGTCTCCGTCCCAGG	0.527																																					p.R352X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.A1054T	4						.						102.0	88.0	92.0					4																	9892308		2203	4300	6503	9501406	SO:0001587	stop_gained	56606	exon10			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1141A>T	4.37:g.9892308T>A	ENSP00000264784:p.Arg381*		9501406	NM_001001290	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Nonsense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	T	39	7.614396	0.98390	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	.	.	.	5.11	5.11	0.69529	.	0.047895	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3104	0.49360	0.0:0.0:0.0:1.0	.	.	.	.	X	352;381;352	.	ENSP00000264784:R381X	R	-	1	2	SLC2A9	9501406	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.900000	0.56295	1.934000	0.56057	0.459000	0.35465	AGA		0.527	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		
GBA3	57733	broad.mit.edu	37	4	22749617	22749617	+	RNA	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:22749617G>A	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.D329N(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TATTCTCCAGGATGCGGAAAT	0.373																																					p.D329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	4						.						45.0	43.0	44.0					4																	22749617		1825	4098	5923	22358715			57733	exon3			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749617G>A			22358715	NM_020973	Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37																																																																																					0.373	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2		
LGI2	55203	broad.mit.edu	37	4	25005398	25005398	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:25005398C>T	ENST00000382114.4	-	8	1498	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	438						extracellular region (GO:0005576)		p.R438H(1)|p.R438L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCCGATGAAGCGGGTAAGGGA	0.542																																					p.R438H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1313A	4						.						176.0	188.0	184.0					4																	25005398		2203	4300	6503	24614496	SO:0001583	missense	55203	exon8			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1313G>A	4.37:g.25005398C>T	ENSP00000371548:p.Arg438His		24614496	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976017	0.92982	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	T	0.81163	-1.46	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89729	0.3925	10	0.72032	D	0.01	-24.2404	19.5927	0.95522	0.0:1.0:0.0:0.0	.	438	Q8N0V4	LGI2_HUMAN	H	438;86	ENSP00000371548:R438H	ENSP00000282970:R86H	R	-	2	0	LGI2	24614496	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.618000	0.88619	0.557000	0.71058	CGC		0.542	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
STIM2	57620	broad.mit.edu	37	4	27024324	27024324	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:27024324T>C	ENST00000467087.1	+	12	2475	c.1947T>C	c.(1945-1947)ggT>ggC	p.G649G	STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000382009.3_Silent_p.G744G|STIM2_ENST00000465503.1_Silent_p.G657G|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000237364.5_Silent_p.G736G			Q9P246	STIM2_HUMAN	stromal interaction molecule 2	649					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.G736G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGTCTTGGGGTTCTCCCGACT	0.463																																					p.G657G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1971C	4						.						133.0	129.0	130.0					4																	27024324		2203	4300	6503	26633422	SO:0001819	synonymous_variant	57620	exon13			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467087.1:c.1947T>C	4.37:g.27024324T>C			26633422	NM_001169118	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Silent	SNP	ENST00000467087.1	37	CCDS3440.2																																																																																				0.463	STIM2-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215063.2	NM_020860	
RFC1	5981	broad.mit.edu	37	4	39301690	39301690	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:39301690A>G	ENST00000381897.1	-	21	2895	c.2762T>C	c.(2761-2763)gTg>gCg	p.V921A	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Missense_Mutation_p.V920A	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	921					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.V921A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGGCTGTCCACTAGGTCACC	0.512																																					p.V920A	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2759C	4						.						101.0	94.0	97.0					4																	39301690		2203	4300	6503	38978085	SO:0001583	missense	5981	exon21			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2762T>C	4.37:g.39301690A>G	ENSP00000371321:p.Val921Ala		38978085	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	A	32	5.123711	0.94429	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.53857	0.6;0.6	6.01	6.01	0.97437	DNA replication factor RFC1, C-terminal (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.061034	0.64402	D	0.000004	T	0.76090	0.3939	M	0.85299	2.745	0.80722	D	1	D;D	0.76494	0.962;0.999	P;D	0.76071	0.888;0.987	T	0.80197	-0.1482	10	0.87932	D	0	-17.3276	16.5181	0.84306	1.0:0.0:0.0:0.0	.	921;920	P35251;P35251-2	RFC1_HUMAN;.	A	921;920	ENSP00000371321:V921A;ENSP00000261424:V920A	ENSP00000261424:V920A	V	-	2	0	RFC1	38978085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.284000	0.95882	2.299000	0.77371	0.496000	0.49642	GTG		0.512	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
CORIN	10699	broad.mit.edu	37	4	47602260	47602260	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:47602260A>G	ENST00000273857.4	-	21	2916	c.2917T>C	c.(2917-2919)Tat>Cat	p.Y973H	CORIN_ENST00000508498.1_Missense_Mutation_p.Y834H|CORIN_ENST00000502252.1_Missense_Mutation_p.Y906H|CORIN_ENST00000505909.1_Missense_Mutation_p.Y936H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	973	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.Y973H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCAGACTCATAGCCAGCACAT	0.418																																					p.Y973H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2917C	4						.						142.0	127.0	132.0					4																	47602260		2203	4300	6503	47297017	SO:0001583	missense	10699	exon21			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2917T>C	4.37:g.47602260A>G	ENSP00000273857:p.Tyr973His		47297017	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736371	0.69189	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.57	5.57	0.84162	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.063724	0.64402	D	0.000004	D	0.90841	0.7123	L	0.27944	0.81	0.80722	D	1	D;D	0.76494	0.966;0.999	P;D	0.85130	0.84;0.997	D	0.92216	0.5780	10	0.72032	D	0.01	.	16.0347	0.80617	1.0:0.0:0.0:0.0	.	906;973	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	H	973;834;906;936	ENSP00000273857:Y973H;ENSP00000425597:Y834H;ENSP00000424212:Y906H;ENSP00000425401:Y936H	ENSP00000273857:Y973H	Y	-	1	0	CORIN	47297017	1.000000	0.71417	0.999000	0.59377	0.279000	0.26890	9.118000	0.94355	2.248000	0.74166	0.533000	0.62120	TAT		0.418	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
CWH43	80157	broad.mit.edu	37	4	49034676	49034676	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:49034676C>T	ENST00000226432.4	+	12	1785	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	CWH43_ENST00000513409.1_Silent_p.T507T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	534					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.T534T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TCACATTGACCGTTAACATTT	0.463																																					p.T534T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1602T	4						.						209.0	181.0	190.0					4																	49034676		2203	4300	6503	48729433	SO:0001819	synonymous_variant	80157	exon12				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1602C>T	4.37:g.49034676C>T			48729433	NM_025087	B2RPD7	Silent	SNP	ENST00000226432.4	37	CCDS3486.1																																																																																				0.463	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
SPATA18	132671	broad.mit.edu	37	4	52951124	52951124	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:52951124T>G	ENST00000295213.4	+	11	1896	c.1522T>G	c.(1522-1524)Tta>Gta	p.L508V	SPATA18_ENST00000419395.2_Missense_Mutation_p.L476V	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	508					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.L508V(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGCAGGAGTTTAAGTCCCAT	0.378																																					p.L508V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1522G	4						.						110.0	110.0	110.0					4																	52951124		2203	4300	6503	52645881	SO:0001583	missense	132671	exon11			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1522T>G	4.37:g.52951124T>G	ENSP00000295213:p.Leu508Val		52645881	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.749706	0.49257	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	D;D	0.89270	-2.49;-2.49	5.02	1.33	0.21861	.	0.354476	0.26397	N	0.024608	D	0.89653	0.6777	L	0.44542	1.39	0.31317	N	0.68644	D;D	0.67145	0.996;0.996	D;D	0.80764	0.994;0.994	D	0.85827	0.1389	10	0.54805	T	0.06	-13.2901	6.6906	0.23169	0.0:0.2664:0.0:0.7336	.	476;508	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	V	508;476	ENSP00000295213:L508V;ENSP00000415309:L476V	ENSP00000295213:L508V	L	+	1	2	SPATA18	52645881	0.996000	0.38824	0.993000	0.49108	0.813000	0.45954	0.166000	0.16583	0.150000	0.19136	0.533000	0.62120	TTA		0.378	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
LNX1	84708	broad.mit.edu	37	4	54348021	54348021	+	Splice_Site	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:54348021C>T	ENST00000263925.7	-	7	1665	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	LNX1_ENST00000306888.2_Splice_Site_p.A355T|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	451	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A355T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTTCACTGGCCTGGGCAAGA	0.517																																					p.A451T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351A	4						.						60.0	59.0	59.0					4																	54348021		2203	4300	6503	54042778	SO:0001630	splice_region_variant	84708	exon7			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1351-1G>A	4.37:g.54348021C>T			54042778	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835687	0.71373	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.30714	1.52;1.52	4.91	4.91	0.64330	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	L	0.33293	1	0.80722	D	1	D;P	0.53462	0.96;0.498	P;B	0.61722	0.893;0.335	T	0.14587	-1.0467	10	0.36615	T	0.2	.	18.2854	0.90112	0.0:1.0:0.0:0.0	.	451;355	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	T	355;289;451	ENSP00000302879:A355T;ENSP00000263925:A451T	ENSP00000263925:A451T	A	-	1	0	LNX1	54042778	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	6.698000	0.74608	2.538000	0.85594	0.561000	0.74099	GCC		0.517	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		Missense_Mutation
TMPRSS11A	339967	broad.mit.edu	37	4	68810346	68810346	+	Frame_Shift_Del	DEL	T	T	-	rs139010197	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:68810346delT	ENST00000334830.7	-	3	889	c.143delA	c.(142-144)aagfs	p.K48fs	TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.K48fs|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.K47fs|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	48	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.K48fs*11(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATAGTACTCCTTTTTTTGGTC	0.338																																					p.K48fs	NSCLC(26;2 894 10941 14480 22546)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.143delA	4						.						96.0	93.0	94.0					4																	68810346		2203	4300	6503	68492941	SO:0001589	frameshift_variant	339967	exon3			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.143delA	4.37:g.68810346delT	ENSP00000334611:p.Lys48fs		68492941	NM_182606	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	ENST00000334830.7	37	CCDS3519.1																																																																																				0.338	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606	
ADAMTS3	9508	broad.mit.edu	37	4	73156708	73156708	+	Missense_Mutation	SNP	C	C	T	rs557435473		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:73156708C>T	ENST00000286657.4	-	20	2831	c.2795G>A	c.(2794-2796)cGc>cAc	p.R932H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	932	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R932H(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGAAGGCAGCGTACAGTGCG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		16909	0.0		0.0	False		,,,				2504	0.001				p.R932H	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2795A	4						.						153.0	127.0	136.0					4																	73156708		2203	4300	6503	73375572	SO:0001583	missense	9508	exon20			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2795G>A	4.37:g.73156708C>T	ENSP00000286657:p.Arg932His		73375572	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440484	0.43326	.	.	ENSG00000156140	ENST00000286657	T	0.54866	0.55	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.67569	2.06	0.58432	D	0.999994	D	0.54772	0.968	P	0.56823	0.807	T	0.60110	-0.7327	10	0.16896	T	0.51	.	19.2087	0.93746	0.0:1.0:0.0:0.0	.	932	O15072	ATS3_HUMAN	H	932	ENSP00000286657:R932H	ENSP00000286657:R932H	R	-	2	0	ADAMTS3	73375572	1.000000	0.71417	0.993000	0.49108	0.104000	0.19210	4.005000	0.57075	2.533000	0.85409	0.557000	0.71058	CGC		0.557	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ADAMTS3	9508	broad.mit.edu	37	4	73161450	73161450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:73161450G>T	ENST00000286657.4	-	19	2680	c.2644C>A	c.(2644-2646)Cat>Aat	p.H882N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	882	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H882N(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGCTGCGATGGACCATTTTA	0.368																																					p.H882N	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2644A	4						.						201.0	173.0	182.0					4																	73161450		2203	4300	6503	73380314	SO:0001583	missense	9508	exon19			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2644C>A	4.37:g.73161450G>T	ENSP00000286657:p.His882Asn		73380314	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327003	0.81690	.	.	ENSG00000156140	ENST00000286657	T	0.59772	0.24	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	N	0.25992	0.78	0.80722	D	1	D	0.60160	0.987	D	0.65233	0.933	T	0.52689	-0.8542	10	0.06625	T	0.88	.	18.6029	0.91255	0.0:0.0:1.0:0.0	.	882	O15072	ATS3_HUMAN	N	882	ENSP00000286657:H882N	ENSP00000286657:H882N	H	-	1	0	ADAMTS3	73380314	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.379000	0.81126	0.650000	0.86243	CAT		0.368	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
PAQR3	152559	broad.mit.edu	37	4	79860357	79860357	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:79860357T>G	ENST00000512733.1	-	1	235	c.22A>C	c.(22-24)Agc>Cgc	p.S8R	PAQR3_ENST00000295462.3_Missense_Mutation_p.S8R|PAQR3_ENST00000380645.4_Missense_Mutation_p.S8R	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	8					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S8R(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TAATGCGCGCTCTTCAGCAGC	0.701																																					p.S8R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A22C	4						.						62.0	61.0	61.0					4																	79860357		2203	4300	6503	80079381	SO:0001583	missense	152559	exon1			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.22A>C	4.37:g.79860357T>G	ENSP00000421981:p.Ser8Arg		80079381	NM_001040202	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460612	0.63513	.	.	ENSG00000163291	ENST00000295462;ENST00000512733;ENST00000380645	T;T	0.32272	1.89;1.46	4.26	4.26	0.50523	.	0.093226	0.64402	D	0.000001	T	0.22360	0.0539	N	0.19112	0.55	0.49389	D	0.999789	B	0.14438	0.01	B	0.17433	0.018	T	0.07177	-1.0786	10	0.87932	D	0	-7.4024	13.8212	0.63322	0.0:0.0:0.0:1.0	.	8	Q6TCH7	PAQR3_HUMAN	R	8	ENSP00000421981:S8R;ENSP00000370019:S8R	ENSP00000295462:S8R	S	-	1	0	PAQR3	80079381	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.574000	0.67424	1.900000	0.55004	0.460000	0.39030	AGC		0.701	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453	
HELQ	113510	broad.mit.edu	37	4	84367215	84367215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:84367215G>A	ENST00000295488.3	-	5	1579	c.1417C>T	c.(1417-1419)Cgt>Tgt	p.R473C	HELQ_ENST00000510985.1_Missense_Mutation_p.R406C	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	473	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R473C(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GTAGCTCCACGGCTTCCTTCA	0.333								Other identified genes with known or suspected DNA repair function																													p.R473C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1417T	4						.						123.0	125.0	124.0					4																	84367215		2203	4300	6503	84586239	SO:0001583	missense	113510	exon5			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1417C>T	4.37:g.84367215G>A	ENSP00000295488:p.Arg473Cys		84586239	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045406	0.75846	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.36699	2.39;1.24	5.31	5.31	0.75309	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86256	0.1652	10	0.87932	D	0	.	14.2151	0.65788	0.0:0.0:0.8506:0.1494	.	406;473	E3W980;Q8TDG4	.;HELQ_HUMAN	C	473;406	ENSP00000295488:R473C;ENSP00000424539:R406C	ENSP00000295488:R473C	R	-	1	0	HELQ	84586239	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.667000	0.61561	2.640000	0.89533	0.655000	0.94253	CGT		0.333	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
WDFY3	23001	broad.mit.edu	37	4	85716121	85716121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:85716121delA	ENST00000295888.4	-	20	3586	c.3179delT	c.(3178-3180)ttgfs	p.L1060fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.L1060fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1060					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L1060fs*41(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACTGGGCAAAAAAAGACA	0.393																																					p.L1060fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3179delT	4						.						62.0	60.0	61.0					4																	85716121		2203	4300	6503	85935145	SO:0001589	frameshift_variant	23001	exon20			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3179delT	4.37:g.85716121delA	ENSP00000295888:p.Leu1060fs		85935145	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	CCDS3609.1																																																																																				0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
HERC6	55008	broad.mit.edu	37	4	89363400	89363400	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:89363400C>T	ENST00000264346.7	+	23	2916	c.2857C>T	c.(2857-2859)Cgt>Tgt	p.R953C	HERC6_ENST00000380265.5_Missense_Mutation_p.R917C	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	953	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R953C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCTTACAGGACGTGATAGGCT	0.333																																					p.D952D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2856T	4						.						52.0	47.0	48.0					4																	89363400		1833	4086	5919	89582423	SO:0001583	missense	55008	exon23			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2857C>T	4.37:g.89363400C>T	ENSP00000264346:p.Arg953Cys		89582423	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753428	0.31046	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.54479	0.57;0.57	4.69	-0.398	0.12418	HECT (4);	0.602244	0.15791	N	0.244462	T	0.16385	0.0394	N	0.00399	-1.545	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.10450	0.003;0.005	T	0.03898	-1.0994	10	0.49607	T	0.09	.	5.9566	0.19277	0.5929:0.1702:0.0:0.2369	.	917;953	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	C	917;953	ENSP00000369617:R917C;ENSP00000264346:R953C	ENSP00000264346:R953C	R	+	1	0	HERC6	89582423	0.999000	0.42202	0.986000	0.45419	0.994000	0.84299	0.667000	0.25112	-0.137000	0.11455	0.591000	0.81541	CGT		0.333	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
BMPR1B	658	broad.mit.edu	37	4	96025652	96025652	+	Missense_Mutation	SNP	G	G	A	rs377000102		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:96025652G>A	ENST00000515059.1	+	4	360	c.77G>A	c.(76-78)cGt>cAt	p.R26H	BMPR1B_ENST00000394931.1_Missense_Mutation_p.R26H|BMPR1B_ENST00000502683.1_Missense_Mutation_p.R26H|BMPR1B_ENST00000440890.2_Missense_Mutation_p.R56H|BMPR1B_ENST00000264568.4_Missense_Mutation_p.R26H	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	26					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.R26H(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCCACCCCCCGTCCAAAGGTC	0.433																																					p.R26H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G77A	4						.						111.0	106.0	108.0					4																	96025652		2203	4300	6503	96244675	SO:0001583	missense	658	exon4			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.77G>A	4.37:g.96025652G>A	ENSP00000426617:p.Arg26His		96244675	NM_001203	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456063	0.43634	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.93488	-1.58;-3.23;-1.58;-1.58;-1.55;-2.69;-1.58;-1.58	5.68	5.68	0.88126	.	0.205916	0.40728	N	0.001027	D	0.86590	0.5969	N	0.14661	0.345	0.32469	N	0.543128	B	0.20459	0.045	B	0.10450	0.005	D	0.85189	0.1008	10	0.41790	T	0.15	.	13.3706	0.60711	0.0:0.2662:0.7338:0.0	.	26	O00238	BMR1B_HUMAN	H	26;26;26;26;56;26;26;26	ENSP00000426617:R26H;ENSP00000421144:R26H;ENSP00000425444:R26H;ENSP00000421671:R26H;ENSP00000401907:R56H;ENSP00000424693:R26H;ENSP00000264568:R26H;ENSP00000378389:R26H	ENSP00000264568:R26H	R	+	2	0	BMPR1B	96244675	0.987000	0.35691	0.995000	0.50966	0.807000	0.45602	3.362000	0.52314	2.676000	0.91093	0.591000	0.81541	CGT		0.433	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
FAT4	79633	broad.mit.edu	37	4	126411402	126411402	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:126411402delG	ENST00000394329.3	+	17	13438	c.13425delG	c.(13423-13425)cagfs	p.Q4475fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.Q2716fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4475					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.K4420fs*15(1)|p.K4477fs*15(1)		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						TCTGTCCTCAGGGGAAGGTGT	0.612																																					p.Q4475fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.13425delG	4						.						86.0	82.0	83.0					4																	126411402		2203	4300	6503	126630852	SO:0001589	frameshift_variant	79633	exon17			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.13425delG	4.37:g.126411402delG	ENSP00000377862:p.Gln4475fs		126630852	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	37	CCDS3732.3																																																																																				0.612	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
RNF175	285533	broad.mit.edu	37	4	154633684	154633684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:154633684delT	ENST00000347063.4	-	8	1181	c.809delA	c.(808-810)aagfs	p.K270fs		NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	270						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K270fs*13(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GCAAGTCTGCTTTTTCCCAAC	0.383																																					p.K270fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.809delA	4						.						83.0	78.0	80.0					4																	154633684		1900	4124	6024	154853134	SO:0001589	frameshift_variant	285533	exon8			BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.809delA	4.37:g.154633684delT	ENSP00000340979:p.Lys270fs		154853134	NM_173662	C9JL66|Q8NB61	Frame_Shift_Del	DEL	ENST00000347063.4	37	CCDS47149.1																																																																																				0.383	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662	
FAM149A	25854	broad.mit.edu	37	4	187074879	187074879	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr4:187074879A>C	ENST00000356371.5	+	5	1040	c.1040A>C	c.(1039-1041)cAc>cCc	p.H347P	FAM149A_ENST00000389354.5_Missense_Mutation_p.H56P|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.H56P|FAM149A_ENST00000503432.1_Missense_Mutation_p.H56P|FAM149A_ENST00000502970.1_Missense_Mutation_p.H56P|FAM149A_ENST00000514153.1_Missense_Mutation_p.H56P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	347								p.H56P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCGCAGTCCACAGACCCCCG	0.502																																					p.H56P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A167C	4						.						116.0	126.0	123.0					4																	187074879		2203	4300	6503	187311873	SO:0001583	missense	25854	exon4			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1040A>C	4.37:g.187074879A>C	ENSP00000348732:p.His347Pro		187311873	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		.	.	.	.	.	.	.	.	.	.	A	13.17	2.157491	0.38119	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000504330;ENST00000510790;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.45	-4.94	0.03057	.	1.220700	0.05553	N	0.567857	T	0.44393	0.1291	L	0.38175	1.15	0.09310	N	1	D;B;B	0.65815	0.995;0.08;0.064	P;B;B	0.58266	0.836;0.057;0.021	T	0.47548	-0.9109	10	0.25751	T	0.34	-0.3035	3.4284	0.07420	0.2197:0.4464:0.2311:0.1028	.	347;347;56	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	P	56;347;56;56;56;56;56;56	ENSP00000426835:H56P;ENSP00000348732:H347P;ENSP00000422330:H56P;ENSP00000421713:H56P;ENSP00000227065:H56P;ENSP00000427155:H56P;ENSP00000424380:H56P;ENSP00000374005:H56P	ENSP00000227065:H56P	H	+	2	0	FAM149A	187311873	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.666000	0.25097	-0.398000	0.07679	-1.237000	0.01550	CAC		0.502	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	
MCC	4163	broad.mit.edu	37	5	112389549	112389549	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:112389549T>C	ENST00000302475.4	-	13	2314	c.1751A>G	c.(1750-1752)aAg>aGg	p.K584R	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.K774R|MCC_ENST00000515367.2_Missense_Mutation_p.K521R	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	584					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.K774R(1)|p.K584R(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)		CATGGTCAGCTTGACCGCAGC	0.542																																					p.K774R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2321G	5						.						113.0	101.0	105.0					5																	112389549		2202	4300	6502	112417448	SO:0001583	missense	4163	exon15				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.1751A>G	5.37:g.112389549T>C	ENSP00000305617:p.Lys584Arg		112417448	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621560	0.28889	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.36878	2.39;2.39;1.23	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	N	0.04880	-0.145	0.58432	D	0.999996	P;D;P	0.56035	0.956;0.974;0.956	P;D;P	0.70487	0.899;0.969;0.899	T	0.32348	-0.9910	10	0.14656	T	0.56	-40.5848	15.743	0.77918	0.0:0.0:0.0:1.0	.	584;774;584	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	R	584;521;774	ENSP00000305617:K584R;ENSP00000421615:K521R;ENSP00000386227:K774R	ENSP00000305617:K584R	K	-	2	0	MCC	112417448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.351000	0.73022	2.132000	0.65825	0.460000	0.39030	AAG		0.542	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
MCC	4163	broad.mit.edu	37	5	112389629	112389629	+	Silent	SNP	G	G	A	rs202122201		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:112389629G>A	ENST00000302475.4	-	13	2234	c.1671C>T	c.(1669-1671)tgC>tgT	p.C557C	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.C747C|MCC_ENST00000515367.2_Silent_p.C494C	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	557					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.C747C(2)|p.C557C(2)		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)		ACTCGGTGTCGCAACTACTGG	0.498																																					p.C747C												.	.	4	Substitution - coding silent(4)	large_intestine(2)|prostate(2)	c.C2241T	5						.	G	,	0,4404		0,0,2202	100.0	95.0	97.0		2241,1671	-8.4	0.0	5		97	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,coding-synonymous	MCC	NM_001085377.1,NM_002387.2	,	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	,	747/1020,557/830	112389629	3,13001	2202	4300	6502	112417528	SO:0001819	synonymous_variant	4163	exon15				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.1671C>T	5.37:g.112389629G>A			112417528	NM_001085377	D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	CCDS4111.1																																																																																				0.498	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
ZNF608	57507	broad.mit.edu	37	5	123983266	123983266	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:123983266C>T	ENST00000306315.5	-	4	3246	c.2811G>A	c.(2809-2811)ccG>ccA	p.P937P	ZNF608_ENST00000504926.1_Silent_p.P510P	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	937	Ser-rich.						metal ion binding (GO:0046872)	p.P937P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGAATAGGCCGGGCTGCTTG	0.517																																					p.P937P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2811A	5						.						62.0	60.0	61.0					5																	123983266		2203	4300	6503	124011165	SO:0001819	synonymous_variant	57507	exon4			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2811G>A	5.37:g.123983266C>T			124011165	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	CCDS34219.1																																																																																				0.517	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
GRAMD3	65983	broad.mit.edu	37	5	125828637	125828637	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:125828637A>G	ENST00000285689.3	+	14	1749	c.1288A>G	c.(1288-1290)Aat>Gat	p.N430D	GRAMD3_ENST00000542322.1_Missense_Mutation_p.N438D|GRAMD3_ENST00000515200.1_Missense_Mutation_p.N408D|GRAMD3_ENST00000513040.1_Missense_Mutation_p.N445D|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000543198.1_3'UTR|GRAMD3_ENST00000502348.1_Missense_Mutation_p.N321D|GRAMD3_ENST00000544396.1_Missense_Mutation_p.N326D|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000511134.1_Missense_Mutation_p.N414D	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	430						cytoplasmic microtubule (GO:0005881)		p.N430D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GTTGCTTGAGAATGGTGACTG	0.378																																					p.N430D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1288G	5						.						71.0	68.0	69.0					5																	125828637		2203	4300	6503	125856536	SO:0001583	missense	65983	exon14			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1288A>G	5.37:g.125828637A>G	ENSP00000285689:p.Asn430Asp		125856536	NM_023927	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055957	0.36277	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T	0.29917	1.57;1.61;1.67;1.55;1.64;1.64;1.64	5.9	5.9	0.94986	.	0.294584	0.37577	N	0.002030	T	0.19604	0.0471	N	0.20766	0.605	0.31296	N	0.688913	B;B;B;B;B	0.10296	0.001;0.003;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.003;0.002;0.002	T	0.14952	-1.0454	10	0.15499	T	0.54	.	12.7209	0.57142	1.0:0.0:0.0:0.0	.	414;326;438;445;430	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	D	445;430;408;438;326;321;414	ENSP00000426120:N445D;ENSP00000285689:N430D;ENSP00000426143:N408D;ENSP00000441876:N438D;ENSP00000444049:N326D;ENSP00000427596:N321D;ENSP00000426088:N414D	ENSP00000285689:N430D	N	+	1	0	GRAMD3	125856536	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.421000	0.52742	2.257000	0.74773	0.528000	0.53228	AAT		0.378	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	
ALDH7A1	501	broad.mit.edu	37	5	125887819	125887819	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:125887819C>T	ENST00000409134.3	-	14	1430	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R367H|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R340H|RNU6-963P_ENST00000363477.1_RNA	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	404					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.R376H(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		ATTTCCAGGGCGATCCATAAC	0.398																																					p.R404H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1211A	5						.						70.0	63.0	65.0					5																	125887819		2203	4300	6503	125915718	SO:0001583	missense	501	exon14			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1211G>A	5.37:g.125887819C>T	ENSP00000387123:p.Arg404His		125915718	NM_001182	B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276602	0.59758	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	D;D;D	0.90955	-2.76;-2.76;-2.76	4.88	4.0	0.46444	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.095567	0.85682	N	0.000000	D	0.88793	0.6533	M	0.71581	2.175	0.43667	D	0.99609	B;B	0.23377	0.026;0.084	B;B	0.18561	0.018;0.022	D	0.86351	0.1711	10	0.45353	T	0.12	.	12.3609	0.55203	0.0:0.9161:0.0:0.0839	.	367;404	E7EPT3;P49419	.;AL7A1_HUMAN	H	404;340;367;212	ENSP00000387123:R404H;ENSP00000448593:R340H;ENSP00000414132:R367H	ENSP00000387123:R404H	R	-	2	0	ALDH7A1	125915718	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.732000	0.68563	1.382000	0.46385	0.655000	0.94253	CGC		0.398	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182	
MEGF10	84466	broad.mit.edu	37	5	126769100	126769100	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:126769100A>C	ENST00000274473.6	+	15	2006	c.1739A>C	c.(1738-1740)aAc>aCc	p.N580T	MEGF10_ENST00000503335.2_Missense_Mutation_p.N580T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	580	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.N580T(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGGGCCCCAACTGCTCCCTG	0.587																																					p.N580T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1739C	5						.						118.0	113.0	115.0					5																	126769100		2203	4300	6503	126796999	SO:0001583	missense	84466	exon15			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1739A>C	5.37:g.126769100A>C	ENSP00000274473:p.Asn580Thr		126796999	NM_032446	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	34	5.315001	0.95655	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.29142	1.58;1.58	6.17	6.17	0.99709	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.79343	2.45	0.80722	D	1	P	0.51653	0.947	P	0.60682	0.878	T	0.58216	-0.7675	10	0.62326	D	0.03	-32.6896	16.8222	0.85835	1.0:0.0:0.0:0.0	.	580	Q96KG7	MEG10_HUMAN	T	580	ENSP00000423354:N580T;ENSP00000274473:N580T	ENSP00000274473:N580T	N	+	2	0	MEGF10	126796999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.371000	0.80710	0.533000	0.62120	AAC		0.587	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	
SLC12A2	6558	broad.mit.edu	37	5	127486998	127486998	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:127486998A>G	ENST00000262461.2	+	14	2362	c.2173A>G	c.(2173-2175)Ata>Gta	p.I725V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.I725V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	725					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.I725V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TCTTTGTTGCATAGTAATGTT	0.368																																					p.I725V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2173G	5						.						232.0	221.0	225.0					5																	127486998		2203	4300	6503	127514897	SO:0001583	missense	6558	exon14				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2173A>G	5.37:g.127486998A>G	ENSP00000262461:p.Ile725Val		127514897	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	2.103	-0.405615	0.04832	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98633	-5.04;-5.04	4.7	2.26	0.28386	Amino acid permease domain (1);	0.250706	0.39985	N	0.001217	D	0.88254	0.6387	N	0.00566	-1.37	0.35983	D	0.836138	B;B	0.09022	0.002;0.002	B;B	0.15052	0.007;0.012	D	0.83740	0.0203	10	0.02654	T	1	.	4.2731	0.10796	0.6952:0.0:0.1568:0.1479	.	725;725	P55011-3;P55011	.;S12A2_HUMAN	V	725	ENSP00000262461:I725V;ENSP00000340878:I725V	ENSP00000262461:I725V	I	+	1	0	SLC12A2	127514897	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.954000	0.63631	0.395000	0.25257	-0.333000	0.08304	ATA		0.368	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
FBN2	2201	broad.mit.edu	37	5	127730904	127730904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:127730904C>T	ENST00000508053.1	-	15	2116	c.1142G>A	c.(1141-1143)gGg>gAg	p.G381E	FBN2_ENST00000508989.1_Missense_Mutation_p.G348E|FBN2_ENST00000262464.4_Missense_Mutation_p.G381E			P35556	FBN2_HUMAN	fibrillin 2	381	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G381E(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGTCATTCTCCCCGGGAGCTC	0.542																																					p.G381E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1142A	5						.						82.0	76.0	78.0					5																	127730904		2203	4300	6503	127758803	SO:0001583	missense	2201	exon9			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1142G>A	5.37:g.127730904C>T	ENSP00000424571:p.Gly381Glu		127758803	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099959	0.76983	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.94000	-3.33;-3.33;-3.33	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000005	D	0.95335	0.8486	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91985	0.5598	10	0.06236	T	0.91	.	18.389	0.90475	0.0:1.0:0.0:0.0	.	348;381	D6RJI3;P35556	.;FBN2_HUMAN	E	381;381;348	ENSP00000262464:G381E;ENSP00000424571:G381E;ENSP00000425596:G348E	ENSP00000262464:G381E	G	-	2	0	FBN2	127758803	1.000000	0.71417	0.996000	0.52242	0.767000	0.43475	5.348000	0.66004	2.750000	0.94351	0.655000	0.94253	GGG		0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
ACSL6	23305	broad.mit.edu	37	5	131302159	131302159	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:131302159G>A	ENST00000379240.1	-	17	1741	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L	ACSL6_ENST00000543479.1_Silent_p.L530L|ACSL6_ENST00000379244.1_Silent_p.L530L|ACSL6_ENST00000544770.1_Silent_p.L439L|ACSL6_ENST00000431707.1_Silent_p.L510L|ACSL6_ENST00000379255.1_Silent_p.L455L|ACSL6_ENST00000296869.4_Silent_p.L555L|ACSL6_ENST00000379249.3_Silent_p.L530L|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379264.2_Silent_p.L555L|ACSL6_ENST00000379272.2_Silent_p.L545L|ACSL6_ENST00000357096.1_Silent_p.L455L|ACSL6_ENST00000379246.1_Silent_p.L541L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	530					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.L555L(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGCTGTCCAGGGCCTCCTTC	0.517																																					p.L555L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1663T	5						.						168.0	155.0	160.0					5																	131302159		2203	4300	6503	131330058	SO:0001819	synonymous_variant	23305	exon17			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1588C>T	5.37:g.131302159G>A			131330058	NM_001009185	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37																																																																																					0.517	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256	
P4HA2	8974	broad.mit.edu	37	5	131552952	131552952	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:131552952A>G	ENST00000401867.1	-	5	837	c.269T>C	c.(268-270)gTg>gCg	p.V90A	P4HA2_ENST00000379104.2_Missense_Mutation_p.V90A|P4HA2_ENST00000166534.4_Missense_Mutation_p.V90A|P4HA2_ENST00000379086.1_Missense_Mutation_p.V90A|P4HA2_ENST00000379100.2_Missense_Mutation_p.V90A|P4HA2_ENST00000360568.3_Missense_Mutation_p.V90A			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	90					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.V90A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGCCGCTTCACCAGTTTGTA	0.567																																					p.V90A	Esophageal Squamous(68;117 1135 17362 19256 34242)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T269C	5						.						139.0	117.0	125.0					5																	131552952		2203	4300	6503	131580851	SO:0001583	missense	8974	exon4			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.269T>C	5.37:g.131552952A>G	ENSP00000384999:p.Val90Ala		131580851	NM_001017974	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847527	0.71603	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698;ENST00000395164;ENST00000453286;ENST00000428369;ENST00000418055;ENST00000416053	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	6.17	5.0	0.66597	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.140123	0.64402	D	0.000004	T	0.56587	0.1995	M	0.80982	2.52	0.51767	D	0.99993	B;B	0.30889	0.299;0.254	B;B	0.37833	0.259;0.098	T	0.59568	-0.7430	10	0.72032	D	0.01	-4.416	13.612	0.62086	0.8705:0.1295:0.0:0.0	.	90;90	O15460;O15460-2	P4HA2_HUMAN;.	A	90;90;90;90;90;90;90;122;90;90;90;90;90;90	ENSP00000384999:V90A;ENSP00000368379:V90A;ENSP00000166534:V90A;ENSP00000353772:V90A;ENSP00000368398:V90A;ENSP00000368394:V90A	ENSP00000166534:V90A	V	-	2	0	P4HA2	131580851	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.962000	0.93254	1.123000	0.41961	0.533000	0.62120	GTG		0.567	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199	
PITX1	5307	broad.mit.edu	37	5	134367090	134367090	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:134367090C>T	ENST00000265340.7	-	2	694	c.278G>A	c.(277-279)cGt>cAt	p.R93H	PITX1_ENST00000506438.1_Missense_Mutation_p.R93H|CTC-349C3.1_ENST00000432382.3_5'Flank	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	93					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.R93H(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GAAGTGCGTACGTTGCCGCCG	0.662																																					p.R93H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G278A	5						.						109.0	81.0	91.0					5																	134367090		2203	4300	6503	134394989	SO:0001583	missense	5307	exon2			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.278G>A	5.37:g.134367090C>T	ENSP00000265340:p.Arg93His		134394989	NM_002653	A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	CCDS4182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.568738|5.568738	0.96540|0.96540	.|.	.|.	ENSG00000069011|ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253;ENST00000502676|ENST00000503586	D;D;D;D|.	0.99167|.	-5.51;-5.51;-5.51;-5.51|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87981|0.87981	0.6315|0.6315	H|H	0.96889|0.96889	3.9|3.9	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.92597|0.92597	0.6088|0.6088	10|5	0.87932|.	D|.	0|.	.|.	17.3262|17.3262	0.87248|0.87248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	93|.	P78337|.	PITX1_HUMAN|.	H|I	93|134	ENSP00000265340:R93H;ENSP00000427542:R93H;ENSP00000422908:R93H;ENSP00000423624:R93H|.	ENSP00000265340:R93H|.	R|V	-|-	2|1	0|0	PITX1|PITX1	134394989|134394989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.660000|7.660000	0.83776|0.83776	2.162000|2.162000	0.67917|0.67917	0.563000|0.563000	0.77884|0.77884	CGT|GTA		0.662	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3		
KDM3B	51780	broad.mit.edu	37	5	137735620	137735620	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:137735620A>G	ENST00000314358.5	+	11	3318	c.3118A>G	c.(3118-3120)Aac>Gac	p.N1040D	KDM3B_ENST00000394866.1_Missense_Mutation_p.N696D|KDM3B_ENST00000542866.1_Missense_Mutation_p.N72D	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1040					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.N1040D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AACTCTCTTCAACATCCACTG	0.502																																					p.N1040D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3118G	5						.						230.0	166.0	188.0					5																	137735620		2203	4300	6503	137763519	SO:0001583	missense	51780	exon11			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3118A>G	5.37:g.137735620A>G	ENSP00000326563:p.Asn1040Asp		137763519	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	34	5.383291	0.95967	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;D;D	0.89875	-0.52;-2.58;-2.24	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.99;0.998	D	0.94909	0.8063	10	0.62326	D	0.03	-39.2922	15.5812	0.76445	1.0:0.0:0.0:0.0	.	696;1040	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	D	1040;830;696;72	ENSP00000326563:N1040D;ENSP00000378335:N696D;ENSP00000439462:N72D	ENSP00000326563:N1040D	N	+	1	0	KDM3B	137763519	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.268000	0.95675	2.070000	0.61991	0.533000	0.62120	AAC		0.502	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
ETF1	2107	broad.mit.edu	37	5	137846297	137846297	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:137846297G>A	ENST00000360541.5	-	9	1261	c.1040C>T	c.(1039-1041)aCt>aTt	p.T347I	ETF1_ENST00000503014.1_Missense_Mutation_p.T333I|ETF1_ENST00000499810.2_Missense_Mutation_p.T314I	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	347					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.T347I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGCTCTGGAGTTAGATAGAG	0.363																																					p.T347I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1040T	5						.						116.0	108.0	111.0					5																	137846297		2202	4300	6502	137874196	SO:0001583	missense	2107	exon9			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1040C>T	5.37:g.137846297G>A	ENSP00000353741:p.Thr347Ile		137874196	NM_004730	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928603	0.73327	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.93	5.93	0.95920	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.84326	2.69	0.80722	D	1	B;B	0.27192	0.002;0.171	B;B	0.28232	0.004;0.087	T	0.70197	-0.4938	9	0.42905	T	0.14	-9.6196	19.9416	0.97165	0.0:0.0:1.0:0.0	.	333;347	B7Z7P8;P62495	.;ERF1_HUMAN	I	314;347;333	.	ENSP00000353741:T347I	T	-	2	0	ETF1	137874196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.425000	0.97467	2.798000	0.96311	0.655000	0.94253	ACT		0.363	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	
HSPA9	3313	broad.mit.edu	37	5	137893154	137893154	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:137893154T>G	ENST00000297185.3	-	14	1790	c.1665A>C	c.(1663-1665)aaA>aaC	p.K555N	HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000411005.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	555					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.K555N(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAATATCATCTTTGCTTAATC	0.353																																					p.K555N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1665C	5						.						64.0	63.0	64.0					5																	137893154		2202	4299	6501	137921053	SO:0001583	missense	3313	exon14			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1665A>C	5.37:g.137893154T>G	ENSP00000297185:p.Lys555Asn		137921053	NM_004134	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113247	0.56398	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.04706	3.57	5.02	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	M	0.81942	2.565	0.80722	D	1	P	0.35411	0.5	B	0.42343	0.384	T	0.00950	-1.1503	10	0.54805	T	0.06	-18.9728	10.6878	0.45854	0.0:0.076:0.0:0.924	.	555	P38646	GRP75_HUMAN	N	555;508;541	ENSP00000297185:K555N	ENSP00000297185:K555N	K	-	3	2	HSPA9	137921053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.327000	0.33746	1.048000	0.40298	0.533000	0.62120	AAA		0.353	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134	
CTNNA1	1495	broad.mit.edu	37	5	138260348	138260348	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:138260348G>A	ENST00000302763.7	+	12	1786	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	CTNNA1_ENST00000540387.1_Missense_Mutation_p.G196R|CTNNA1_ENST00000355078.5_Missense_Mutation_p.G463R|CTNNA1_ENST00000518825.1_Missense_Mutation_p.G566R	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	566					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.G566R(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTATGAGCCAGGAGTCTACAC	0.577																																					p.G566R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1696A	5						.						50.0	44.0	46.0					5																	138260348		2203	4300	6503	138288247	SO:0001583	missense	1495	exon12			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1696G>A	5.37:g.138260348G>A	ENSP00000304669:p.Gly566Arg		138288247	NM_001903	Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393833	0.96009	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.79693	2.465	0.80722	D	1	D;D;B	0.63880	0.993;0.987;0.343	P;P;B	0.58620	0.842;0.8;0.067	T	0.64943	-0.6288	10	0.48119	T	0.1	-16.8748	19.7203	0.96139	0.0:0.0:1.0:0.0	.	566;443;566	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	R	463;566;566;551;566;196	ENSP00000347190:G463R;ENSP00000304669:G566R;ENSP00000427821:G566R;ENSP00000438476:G196R	ENSP00000304669:G566R	G	+	1	0	CTNNA1	138288247	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GGA		0.577	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
SIL1	64374	broad.mit.edu	37	5	138282899	138282899	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:138282899C>A	ENST00000394817.2	-	10	1432	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.V431V|SIL1_ENST00000509534.1_Silent_p.V438V	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	431					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCTGGCCAGCACCTGGTACT	0.652									Marinesco-Sjgren syndrome																												p.V431V												.	.	0			c.G1293T	5						.						38.0	35.0	36.0					5																	138282899		2203	4300	6503	138310798	SO:0001819	synonymous_variant	64374	exon11	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1293G>T	5.37:g.138282899C>A			138310798	NM_001037633	D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	CCDS4209.1																																																																																				0.652	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464	
NRG2	9542	broad.mit.edu	37	5	139232529	139232529	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:139232529C>T	ENST00000361474.1	-	7	1600	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NRG2_ENST00000289409.4_Missense_Mutation_p.S453N|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289422.7_Missense_Mutation_p.S467N|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.S461N|NRG2_ENST00000340391.3_Missense_Mutation_p.S256N|NRG2_ENST00000545385.1_Missense_Mutation_p.S461N|NRG2_ENST00000541337.1_Missense_Mutation_p.S393N	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	459					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S459N(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGGGTGGCTGGGCCCATT	0.622																																					p.S453N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1358A	5						.						55.0	59.0	58.0					5																	139232529		2203	4300	6503	139212713	SO:0001583	missense	9542	exon7				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1376G>A	5.37:g.139232529C>T	ENSP00000354910:p.Ser459Asn		139212713	NM_013981		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752040	0.31046	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.37	5.37	0.77165	Neuregulin 1-related, C-terminal (1);	0.187569	0.47455	D	0.000221	T	0.44561	0.1299	L	0.33137	0.985	0.80722	D	1	B;B;B;B	0.26081	0.141;0.064;0.029;0.141	B;B;B;B	0.28991	0.058;0.097;0.058;0.058	T	0.28364	-1.0046	10	0.19590	T	0.45	-27.2374	17.281	0.87128	0.0:1.0:0.0:0.0	.	453;459;461;467	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	N	393;467;459;467;461;256;453;461	ENSP00000444235:S393N;ENSP00000289422:S467N;ENSP00000354910:S459N;ENSP00000438753:S461N;ENSP00000342660:S256N;ENSP00000289409:S453N;ENSP00000351323:S461N	ENSP00000289409:S453N	S	-	2	0	NRG2	139212713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.297000	0.65704	2.518000	0.84900	0.467000	0.42956	AGC		0.622	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	
PCDHA2	56146	broad.mit.edu	37	5	140174814	140174814	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140174814C>T	ENST00000526136.1	+	1	265	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R89W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R89W	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.R89W(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)			TGTGAATTCTCGGATCGACCG	0.592																																					p.R89W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C265T	5						.						97.0	112.0	107.0					5																	140174814		2203	4300	6503	140154998	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.265C>T	5.37:g.140174814C>T	ENSP00000431748:p.Arg89Trp		140154998	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	19.20	3.781369	0.70222	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.36157	1.27;1.27;1.27	3.98	3.98	0.46160	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.233245	0.21877	U	0.067800	T	0.70378	0.3217	H	0.98849	4.35	0.26142	N	0.980262	P;P;P	0.51240	0.929;0.943;0.929	P;P;P	0.58130	0.833;0.564;0.833	T	0.71163	-0.4673	10	0.72032	D	0.01	.	12.5653	0.56306	0.0:0.8324:0.1676:0.0	.	89;89;89	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	89	ENSP00000430584:R89W;ENSP00000367372:R89W;ENSP00000431748:R89W	ENSP00000367372:R89W	R	+	1	2	PCDHA2	140154998	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	-0.018000	0.12568	2.234000	0.73211	0.644000	0.83932	CGG		0.592	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA9	9752	broad.mit.edu	37	5	140230350	140230350	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140230350G>A	ENST00000532602.1	+	1	3303	c.2270G>A	c.(2269-2271)aGg>aAg	p.R757K	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R757K	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	757	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R757K(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)			AGGAGGCAGAGGGTGTGCTCT	0.642																																					p.R757K	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2270A	5						.						88.0	84.0	86.0					5																	140230350		2197	4270	6467	140210534	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.2270G>A	5.37:g.140230350G>A	ENSP00000436042:p.Arg757Lys		140210534	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.103073	0.20632	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.13089	2.62;2.62	4.61	1.23	0.21249	.	0.757911	0.10050	U	0.722334	T	0.10252	0.0251	L	0.38953	1.18	0.19300	N	0.999974	B;B	0.14012	0.009;0.009	B;B	0.15484	0.005;0.013	T	0.32981	-0.9886	10	0.42905	T	0.14	.	4.6033	0.12364	0.3683:0.0:0.4854:0.1462	.	757;757	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	K	757	ENSP00000436042:R757K;ENSP00000367362:R757K	ENSP00000367362:R757K	R	+	2	0	PCDHA9	140210534	0.003000	0.15002	0.981000	0.43875	0.549000	0.35272	0.549000	0.23329	0.468000	0.27243	0.491000	0.48974	AGG		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA13	56136	broad.mit.edu	37	5	140261993	140261993	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140261993G>A	ENST00000289272.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R47H|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	47	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.R47H(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)			TTCGTGGGCCGCATCGCTCAG	0.642																																					p.R47H	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G140A	5						.						54.0	63.0	60.0					5																	140261993		2203	4300	6503	140242177	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.140G>A	5.37:g.140261993G>A	ENSP00000289272:p.Arg47His		140242177	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586949	0.46110	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.27256	1.68;1.68	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.35158	0.0922	M	0.61703	1.905	0.29783	N	0.83381	D;P;P	0.54207	0.965;0.844;0.955	P;P;B	0.47299	0.507;0.543;0.253	T	0.35798	-0.9774	9	0.59425	D	0.04	.	13.8316	0.63384	0.0754:0.0:0.9246:0.0	.	47;47;47	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	H	47	ENSP00000386821:R47H;ENSP00000289272:R47H	ENSP00000289272:R47H	R	+	2	0	PCDHA13	140242177	0.025000	0.19082	1.000000	0.80357	0.390000	0.30446	2.368000	0.44222	2.621000	0.88768	0.561000	0.74099	CGC		0.642	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB1	29930	broad.mit.edu	37	5	140431928	140431928	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140431928G>A	ENST00000306549.3	+	1	950	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	291	Cadherin 3. {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.T291T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAGACGTTTCAGATTG	0.468																																					p.T291T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G873A	5						.						73.0	74.0	74.0					5																	140431928		2203	4300	6503	140412112	SO:0001819	synonymous_variant	29930	exon1			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.873G>A	5.37:g.140431928G>A			140412112	NM_013340	Q2M257	Silent	SNP	ENST00000306549.3	37	CCDS4243.1																																																																																				0.468	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB13	56123	broad.mit.edu	37	5	140595594	140595594	+	Silent	SNP	C	C	T	rs376579786	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140595594C>T	ENST00000341948.4	+	1	2086	c.1899C>T	c.(1897-1899)cgC>cgT	p.R633R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R633R(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692																																					p.R633R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1899T	5						.						20.0	21.0	21.0					5																	140595594		1692	3520	5212	140575778	SO:0001819	synonymous_variant	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1899C>T	5.37:g.140595594C>T			140575778	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																				0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHGB1	56104	broad.mit.edu	37	5	140730929	140730929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140730929C>T	ENST00000523390.1	+	1	1102	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	368	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.R368*(4)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAAAAGTGCGAGACAAGGA	0.433																																					p.R368X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C1102T	5						.						43.0	42.0	42.0					5																	140730929		1908	4124	6032	140711113	SO:0001587	stop_gained	56104	exon1			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1102C>T	5.37:g.140730929C>T	ENSP00000429273:p.Arg368*		140711113	NM_018922	Q3SY75|Q9Y5C8	Nonsense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.385450	0.82792	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.49	-1.73	0.08081	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	11.1443	0.48422	0.6713:0.2645:0.0:0.0642	.	.	.	.	X	368	.	ENSP00000429273:R368X	R	+	1	2	PCDHGB1	140711113	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-3.032000	0.00637	-0.205000	0.10219	0.563000	0.77884	CGA		0.433	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGB2	56103	broad.mit.edu	37	5	140739827	140739827	+	Missense_Mutation	SNP	C	C	T	rs535439542		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140739827C>T	ENST00000522605.1	+	1	125	c.125C>T	c.(124-126)gCc>gTc	p.A42V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	42	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.A42V(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGCTGGCCAAAAACTCG	0.597											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	1	0.000199681	0.0	0.0	5008	,	,		15578	0.001		0.0	False		,,,				2504	0.0				p.A42V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C125T	5						.						39.0	42.0	41.0					5																	140739827		1861	4103	5964	140720011	SO:0001583	missense	56103	exon1			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.125C>T	5.37:g.140739827C>T	ENSP00000429018:p.Ala42Val	1658	140720011	NM_018923	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.299503	0.40694	.	.	ENSG00000253910	ENST00000522605	T	0.28255	1.62	5.3	4.42	0.53409	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.48768	0.1518	M	0.63428	1.95	0.09310	N	1	B;D	0.61697	0.439;0.99	B;D	0.66497	0.209;0.944	T	0.32771	-0.9894	9	0.56958	D	0.05	.	9.8226	0.40891	0.277:0.5886:0.1343:0.0	.	42;42	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	42	ENSP00000429018:A42V	ENSP00000429018:A42V	A	+	2	0	PCDHGB2	140720011	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	-0.721000	0.04963	1.331000	0.45412	0.563000	0.77884	GCC		0.597	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
PCDHGA11	56105	broad.mit.edu	37	5	140801771	140801771	+	Missense_Mutation	SNP	G	G	T	rs185669562		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140801771G>T	ENST00000398587.2	+	1	1010	c.977G>T	c.(976-978)gGa>gTa	p.G326V	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G326V	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	326	Cadherin 3. {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.G326V(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGATGGTGGAGGTCTCTTT	0.393																																					p.G326V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G977T	5						.						61.0	64.0	63.0					5																	140801771		1872	4102	5974	140781955	SO:0001583	missense	56105	exon1			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.977G>T	5.37:g.140801771G>T	ENSP00000381589:p.Gly326Val		140781955	NM_018914	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.213435	0.58452	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.01685	4.69;4.69	5.71	5.71	0.89125	Cadherin (5);Cadherin-like (1);	6.467400	0.03360	U	0.197431	T	0.20941	0.0504	M	0.91818	3.245	0.80722	D	1	D;D;D	0.67145	0.977;0.996;0.971	D;D;P	0.69824	0.934;0.966;0.891	T	0.02179	-1.1200	10	0.72032	D	0.01	.	19.8636	0.96797	0.0:0.0:1.0:0.0	.	326;326;326	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	V	326	ENSP00000381589:G326V;ENSP00000428333:G326V	ENSP00000381589:G326V	G	+	2	0	PCDHGA11	140781955	1.000000	0.71417	0.993000	0.49108	0.558000	0.35554	7.894000	0.87336	2.694000	0.91930	0.655000	0.94253	GGA		0.393	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
PLAC8L1	153770	broad.mit.edu	37	5	145465117	145465117	+	Silent	SNP	G	G	A	rs142846473	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:145465117G>A	ENST00000311450.4	-	3	357	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	100								p.I100I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGCCTGGCGATGTCACACT	0.458																																					p.I100I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	5						.	G		1,4405	2.1+/-5.4	0,1,2202	159.0	120.0	133.0		300	-1.9	1.0	5	dbSNP_134	133	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PLAC8L1	NM_001029869.1		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		100/178	145465117	4,13002	2203	4300	6503	145445310	SO:0001819	synonymous_variant	153770	exon3				CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.300C>T	5.37:g.145465117G>A			145445310	NM_001029869		Silent	SNP	ENST00000311450.4	37	CCDS34264.1																																																																																				0.458	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761	
JAKMIP2	9832	broad.mit.edu	37	5	147023705	147023705	+	Silent	SNP	G	G	A	rs140912215		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:147023705G>A	ENST00000265272.5	-	7	1607	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	JAKMIP2_ENST00000507386.1_Silent_p.L380L|JAKMIP2_ENST00000333010.6_Silent_p.L338L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	380						Golgi apparatus (GO:0005794)		p.L380L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTTGGTCGAGGTCATTCA	0.378																																					p.L380L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1140T	5						.	G		2,4404	4.2+/-10.8	0,2,2201	132.0	126.0	128.0		1140	-5.2	1.0	5	dbSNP_134	128	0,8600		0,0,4300	yes	coding-synonymous	JAKMIP2	NM_014790.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		380/811	147023705	2,13004	2203	4300	6503	147003898	SO:0001819	synonymous_variant	9832	exon7			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1140C>T	5.37:g.147023705G>A			147003898	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	CCDS4285.1																																																																																				0.378	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
JAKMIP2	9832	broad.mit.edu	37	5	147024496	147024496	+	Missense_Mutation	SNP	C	C	T	rs188723514	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:147024496C>T	ENST00000265272.5	-	6	1467	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A334T|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A292T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	334						Golgi apparatus (GO:0005794)		p.A334T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCTTGGCGAGGCACTTG	0.433																																					p.A334T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	5						.						199.0	193.0	195.0					5																	147024496		2203	4300	6503	147004689	SO:0001583	missense	9832	exon6			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1000G>A	5.37:g.147024496C>T	ENSP00000265272:p.Ala334Thr		147004689	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015338	0.35511	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.82984	-1.67;-1.67;-1.67	5.49	3.34	0.38264	.	0.206609	0.50627	N	0.000114	T	0.47764	0.1463	N	0.00841	-1.15	0.32923	D	0.516151	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.48456	-0.9034	10	0.10377	T	0.69	.	2.2236	0.03979	0.2344:0.4218:0.0:0.3438	.	292;334;334;334	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	T	334;334;292;334	ENSP00000421398:A334T;ENSP00000265272:A334T;ENSP00000328989:A292T	ENSP00000265272:A334T	A	-	1	0	JAKMIP2	147004689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.486000	0.45259	1.462000	0.47948	0.591000	0.81541	GCC		0.433	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
SLC36A2	153201	broad.mit.edu	37	5	150701672	150701672	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:150701672C>T	ENST00000335244.4	-	9	1244	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q	SLC36A2_ENST00000521967.1_Missense_Mutation_p.R372Q|SLC36A2_ENST00000450886.1_Missense_Mutation_p.R96Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	372					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.R372Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGTTGACACCCGGGAGATGGC	0.542																																					p.R372Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1115A	5						.						145.0	134.0	138.0					5																	150701672		2203	4300	6503	150681865	SO:0001583	missense	153201	exon9			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1115G>A	5.37:g.150701672C>T	ENSP00000334223:p.Arg372Gln		150681865	NM_181776	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550469	0.27739	.	.	ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967	T;T;T	0.10668	4.34;4.34;2.85	4.76	-8.38	0.00973	.	0.590157	0.18920	N	0.127519	T	0.09069	0.0224	L	0.52126	1.63	0.09310	N	1	B;B	0.29671	0.254;0.14	B;B	0.25405	0.06;0.06	T	0.00942	-1.1506	10	0.30854	T	0.27	0.1446	18.4109	0.90550	0.0:0.6851:0.0:0.3149	.	372;372	E5RJJ5;Q495M3	.;S36A2_HUMAN	Q	372;96;372	ENSP00000334223:R372Q;ENSP00000399479:R96Q;ENSP00000430535:R372Q	ENSP00000334223:R372Q	R	-	2	0	SLC36A2	150681865	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-0.138000	0.10374	-1.982000	0.00988	-0.471000	0.05019	CGG		0.542	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		
FAT2	2196	broad.mit.edu	37	5	150905399	150905399	+	Missense_Mutation	SNP	G	G	T	rs372161810		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:150905399G>T	ENST00000261800.5	-	17	10448	c.10436C>A	c.(10435-10437)cCg>cAg	p.P3479Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3479	Cadherin 31. {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.P3479Q(1)|p.P3479R(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)			CCATCCATCCGGGGTCACTCG	0.577																																					p.P3479Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C10436A	5						.						80.0	73.0	76.0					5																	150905399		2203	4300	6503	150885592	SO:0001583	missense	2196	exon17			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.10436C>A	5.37:g.150905399G>T	ENSP00000261800:p.Pro3479Gln		150885592	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	4.045	0.006013	0.07866	.	.	ENSG00000086570	ENST00000261800	T	0.53640	0.61	5.11	4.11	0.48088	Cadherin (4);Cadherin-like (1);	0.293788	0.29396	N	0.012278	T	0.23532	0.0569	N	0.12961	0.28	0.34720	D	0.728625	B;B	0.14012	0.004;0.009	B;B	0.19946	0.027;0.017	T	0.24764	-1.0151	10	0.06757	T	0.87	.	6.0955	0.20019	0.098:0.0:0.5963:0.3057	.	3479;670	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	Q	3479	ENSP00000261800:P3479Q	ENSP00000261800:P3479Q	P	-	2	0	FAT2	150885592	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.248000	0.65421	2.538000	0.85594	0.557000	0.71058	CCG		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
CYFIP2	26999	broad.mit.edu	37	5	156727868	156727868	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:156727868A>G	ENST00000521420.1	+	5	546	c.455A>G	c.(454-456)aAg>aGg	p.K152R	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.K178R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.K103R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.K178R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.K178R|CYFIP2_ENST00000522463.1_Intron					cytoplasmic FMR1 interacting protein 2									p.K178R(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGAACATGAAGTGCAGCGTC	0.562																																					p.K178R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A533G	5						.						116.0	117.0	117.0					5																	156727868		2152	4282	6434	156660446	SO:0001583	missense	26999	exon6			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.455A>G	5.37:g.156727868A>G	ENSP00000430904:p.Lys152Arg		156660446	NM_001037333		Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	A	28.0	4.885001	0.91814	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.88640	2.97	0.80722	D	1	B;D;P;P;P	0.56521	0.094;0.976;0.919;0.458;0.892	B;P;P;P;B	0.57244	0.02;0.522;0.816;0.678;0.384	T	0.75172	-0.3411	10	0.51188	T	0.08	-16.2336	14.8332	0.70164	1.0:0.0:0.0:0.0	.	152;178;178;178;103	E7EVJ5;E7EVF4;Q96F07-2;Q96F07;B7Z4I3	.;.;.;CYFP2_HUMAN;.	R	178;152;178;178;103	ENSP00000325817:K178R;ENSP00000430904:K152R;ENSP00000313567:K178R;ENSP00000366799:K178R;ENSP00000444645:K103R	ENSP00000325817:K178R	K	+	2	0	CYFIP2	156660446	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.139000	0.94554	1.901000	0.55032	0.379000	0.24179	AAG		0.562	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	
TENM2	57451	broad.mit.edu	37	5	167645275	167645275	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:167645275G>A	ENST00000518659.1	+	23	4418	c.4379G>A	c.(4378-4380)gGc>gAc	p.G1460D	TENM2_ENST00000520394.1_Missense_Mutation_p.G1221D|TENM2_ENST00000545108.1_Missense_Mutation_p.G1459D|TENM2_ENST00000519204.1_Missense_Mutation_p.G1339D|TENM2_ENST00000403607.2_Missense_Mutation_p.G1284D	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1460					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.G1460D(1)|p.G1293D(1)									CAAGTTCCTGGCATTGACTAC	0.507																																					p.G1451D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4352A	5						.						190.0	199.0	196.0					5																	167645275		2193	4282	6475	167577853	SO:0001583	missense	57451	exon23			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.4379G>A	5.37:g.167645275G>A	ENSP00000429430:p.Gly1460Asp		167577853	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	18.22	3.575516	0.65878	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96275	0.8785	M	0.89353	3.025	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.988;0.998	D	0.95896	0.8911	10	0.52906	T	0.07	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	1459;1460;1221	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	D	1460;1459;1339;1221;1284	ENSP00000429430:G1460D;ENSP00000438635:G1459D;ENSP00000428964:G1339D;ENSP00000427874:G1221D;ENSP00000384905:G1284D	ENSP00000384905:G1284D	G	+	2	0	ODZ2	167577853	1.000000	0.71417	0.955000	0.39395	0.938000	0.57974	6.638000	0.74309	2.709000	0.92574	0.655000	0.94253	GGC		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
DOCK2	1794	broad.mit.edu	37	5	169108785	169108785	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:169108785G>A	ENST00000256935.8	+	7	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	170					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.G170R(3)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAAGACGGAAATATCTT	0.413																																					p.G170R												.	.	3	Substitution - Missense(3)	large_intestine(2)|prostate(1)	c.G508A	5						.						161.0	151.0	155.0					5																	169108785		2203	4300	6503	169041363	SO:0001583	missense	1794	exon7			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.508G>A	5.37:g.169108785G>A	ENSP00000256935:p.Gly170Arg		169041363	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852928	0.91355	.	.	ENSG00000134516	ENST00000256935	T	0.61859	0.07	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84909	0.0847	10	0.56958	D	0.05	.	18.0283	0.89275	0.0:0.0:1.0:0.0	.	170	Q92608	DOCK2_HUMAN	R	170	ENSP00000256935:G170R	ENSP00000256935:G170R	G	+	1	0	DOCK2	169041363	1.000000	0.71417	0.995000	0.50966	0.843000	0.47879	9.412000	0.97347	2.323000	0.78572	0.655000	0.94253	GGA		0.413	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169474592	169474592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:169474592G>A	ENST00000256935.8	+	40	4125	c.4045G>A	c.(4045-4047)Ggc>Agc	p.G1349S	DOCK2_ENST00000520908.1_Missense_Mutation_p.G841S|DOCK2_ENST00000540750.1_Missense_Mutation_p.G410S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1349	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.G1349S(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGATACTACGGCCAGGGATT	0.517																																					p.G1349S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4045A	5						.						84.0	84.0	84.0					5																	169474592		2203	4300	6503	169407170	SO:0001583	missense	1794	exon40			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4045G>A	5.37:g.169474592G>A	ENSP00000256935:p.Gly1349Ser		169407170	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139310	0.94560	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.59638	1.15;0.75;0.25	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88269	0.2928	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	841;1349	E7ERW7;Q92608	.;DOCK2_HUMAN	S	1349;841;410	ENSP00000256935:G1349S;ENSP00000429283:G841S;ENSP00000438827:G410S	ENSP00000256935:G1349S	G	+	1	0	DOCK2	169407170	1.000000	0.71417	0.974000	0.42286	0.537000	0.34900	9.869000	0.99810	2.477000	0.83638	0.561000	0.74099	GGC		0.517	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
ERGIC1	57222	broad.mit.edu	37	5	172351073	172351073	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:172351073G>A	ENST00000393784.3	+	6	580	c.441G>A	c.(439-441)acG>acA	p.T147T		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	147					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T147T(2)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGACATGACGCATGTCATCC	0.602																																					p.T147T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G441A	5						.						93.0	82.0	86.0					5																	172351073		2203	4300	6503	172283679	SO:0001819	synonymous_variant	57222	exon6			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.441G>A	5.37:g.172351073G>A			172283679	NM_001031711	Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	ENST00000393784.3	37	CCDS34292.1	.	.	.	.	.	.	.	.	.	.	G	9.243	1.038816	0.19669	.	.	ENSG00000113719	ENST00000519567	.	.	.	5.24	-2.77	0.05877	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32188	-0.9916	4	.	.	.	-20.7096	2.4307	0.04470	0.5049:0.1351:0.2375:0.1225	.	.	.	.	H	136	.	.	R	+	2	0	ERGIC1	172283679	0.016000	0.18221	0.969000	0.41365	0.867000	0.49689	-0.951000	0.03885	-0.345000	0.08325	-0.463000	0.05309	CGC		0.602	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462	
SIMC1	375484	broad.mit.edu	37	5	175772210	175772210	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:175772210A>C	ENST00000443967.1	+	12	2788	c.2381A>C	c.(2380-2382)gAc>gCc	p.D794A	KIAA1191_ENST00000393728.2_5'Flank|RP11-843P14.2_ENST00000508187.1_RNA|SIMC1_ENST00000430704.2_Missense_Mutation_p.D379A|SIMC1_ENST00000341199.6_Missense_Mutation_p.D379A|SIMC1_ENST00000332772.4_Missense_Mutation_p.D255A			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	794							SUMO polymer binding (GO:0032184)	p.D794A(1)									TCCGTGATCGACCGAAAGGAC	0.433																																					p.D379A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1136C	5						.						107.0	106.0	106.0					5																	175772210		2203	4300	6503	175704816	SO:0001583	missense	375484	exon9			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2381A>C	5.37:g.175772210A>C	ENSP00000406571:p.Asp794Ala		175704816	NM_198567	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37		.	.	.	.	.	.	.	.	.	.	A	16.47	3.132505	0.56828	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.34859	1.77;1.77;2.02;1.34	5.09	5.09	0.68999	.	0.263259	0.30020	N	0.010605	T	0.46502	0.1396	L	0.46157	1.445	0.80722	D	1	P;P;D	0.60575	0.884;0.884;0.988	B;B;P	0.56216	0.426;0.426;0.794	T	0.45220	-0.9276	10	0.62326	D	0.03	-15.3722	13.5909	0.61959	1.0:0.0:0.0:0.0	.	255;379;794	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	A	379;379;794;255	ENSP00000342075:D379A;ENSP00000409287:D379A;ENSP00000406571:D794A;ENSP00000331311:D255A	ENSP00000331311:D255A	D	+	2	0	C5orf25	175704816	0.999000	0.42202	0.399000	0.26333	0.387000	0.30353	5.487000	0.66863	2.138000	0.66242	0.455000	0.32223	GAC		0.433	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567	
ZNF346	23567	broad.mit.edu	37	5	176489069	176489069	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:176489069C>A	ENST00000358149.3	+	6	757	c.714C>A	c.(712-714)ggC>ggA	p.G238G	ZNF346_ENST00000503425.1_Silent_p.G206G|ZNF346_ENST00000506693.1_Silent_p.G140G|ZNF346_ENST00000261948.4_Silent_p.G263G|ZNF346_ENST00000512315.1_Silent_p.G62G|ZNF346_ENST00000503039.1_Silent_p.G263G|ZNF346_ENST00000511834.1_Silent_p.G254G	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	238					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G238G(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			CTGGAAAGGGCTACCCCTGCA	0.413																																					p.G238G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714A	5						.						185.0	183.0	184.0					5																	176489069		2203	4300	6503	176421675	SO:0001819	synonymous_variant	23567	exon6			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.714C>A	5.37:g.176489069C>A			176421675	NM_012279	B7Z367|Q68CV9|Q6ZMW1	Silent	SNP	ENST00000358149.3	37	CCDS4409.1																																																																																				0.413	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279	
C5orf45	51149	broad.mit.edu	37	5	179264524	179264524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:179264524C>T	ENST00000292586.6	-	7	989	c.899G>A	c.(898-900)tGc>tAc	p.C300Y	C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.C166Y|C5orf45_ENST00000523267.1_5'UTR|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.C245Y|C5orf45_ENST00000518235.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	300								p.C300Y(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GGTCTTCCCGCAAGGCCTCTC	0.637																																					p.C245Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G734A	5						.						106.0	108.0	107.0					5																	179264524		2203	4300	6503	179197130	SO:0001583	missense	51149	exon5				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.899G>A	5.37:g.179264524C>T	ENSP00000292586:p.Cys300Tyr		179197130	NM_001017987	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081700	0.36758	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.07114	3.22;3.22;3.22	3.7	-3.92	0.04155	.	1.197540	0.05954	N	0.639294	T	0.08223	0.0205	M	0.63428	1.95	0.09310	N	0.999999	P;P	0.45634	0.863;0.863	B;B	0.38500	0.275;0.275	T	0.24476	-1.0159	10	0.59425	D	0.04	-0.0628	3.1273	0.06412	0.5655:0.2006:0.1319:0.102	.	245;300	E9PAK6;Q6NTE8	.;CE045_HUMAN	Y	245;166;300	ENSP00000366130:C245Y;ENSP00000429107:C166Y;ENSP00000292586:C300Y	ENSP00000292586:C300Y	C	-	2	0	C5orf45	179197130	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.092000	0.11129	-0.835000	0.04234	0.313000	0.20887	TGC		0.637	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175	
CDH6	1004	broad.mit.edu	37	5	31297420	31297420	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:31297420C>T	ENST00000265071.2	+	4	813	c.548C>T	c.(547-549)gCg>gTg	p.A183V	CDH6_ENST00000514738.1_Missense_Mutation_p.A128V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	183	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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A183V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAAGTCACTGCGACGGATGCA	0.398																																					p.A183V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C548T	5						.						162.0	151.0	154.0					5																	31297420		2203	4300	6503	31333177	SO:0001583	missense	1004	exon4			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.548C>T	5.37:g.31297420C>T	ENSP00000265071:p.Ala183Val		31333177	NM_004932	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455913	0.84209	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.59364	0.27;0.27	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84946	0.0868	10	0.87932	D	0	.	19.7157	0.96119	0.0:1.0:0.0:0.0	.	183;183	P55285;P55285-2	CADH6_HUMAN;.	V	128;183	ENSP00000424843:A128V;ENSP00000265071:A183V	ENSP00000265071:A183V	A	+	2	0	CDH6	31333177	1.000000	0.71417	0.918000	0.36340	0.334000	0.28698	7.773000	0.85462	2.749000	0.94314	0.655000	0.94253	GCG		0.398	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	
PDZD2	23037	broad.mit.edu	37	5	32048692	32048692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:32048692G>T	ENST00000438447.1	+	8	1955	c.1567G>T	c.(1567-1569)Gtg>Ttg	p.V523L	PDZD2_ENST00000282493.3_Missense_Mutation_p.V523L			O15018	PDZD2_HUMAN	PDZ domain containing 2	523					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.V523L(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGAGCTGATGGTGCGGAATGG	0.527																																					p.V523L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567T	5						.						55.0	58.0	57.0					5																	32048692		2203	4300	6503	32084449	SO:0001583	missense	23037	exon7			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1567G>T	5.37:g.32048692G>T	ENSP00000402033:p.Val523Leu		32084449	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321715	0.60634	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.08282	3.11;3.11	5.71	-2.71	0.05986	.	0.379964	0.19354	N	0.116309	T	0.05686	0.0149	N	0.19112	0.55	0.36481	D	0.867875	B;B	0.22541	0.071;0.009	B;B	0.19666	0.026;0.011	T	0.21999	-1.0229	10	0.28530	T	0.3	.	16.335	0.83056	0.0:0.6237:0.2697:0.1065	.	349;523	B4E3P2;O15018	.;PDZD2_HUMAN	L	523	ENSP00000402033:V523L;ENSP00000282493:V523L	ENSP00000282493:V523L	V	+	1	0	PDZD2	32084449	1.000000	0.71417	0.796000	0.32109	0.994000	0.84299	2.107000	0.41844	-0.493000	0.06678	-0.181000	0.13052	GTG		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
C5orf42	65250	broad.mit.edu	37	5	37185172	37185172	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:37185172G>C	ENST00000508244.1	-	24	4292	c.4199C>G	c.(4198-4200)aCt>aGt	p.T1400S	C5orf42_ENST00000425232.2_Missense_Mutation_p.T1400S|C5orf42_ENST00000274258.7_Missense_Mutation_p.T281S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1400						integral component of membrane (GO:0016021)		p.T1400S(1)|p.T281S(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)			CATTTCCTCAGTCTGGGGTCC	0.393																																					p.T1400S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4199G	5						.						56.0	56.0	56.0					5																	37185172		2203	4300	6503	37220929	SO:0001583	missense	65250	exon25				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.4199C>G	5.37:g.37185172G>C	ENSP00000421690:p.Thr1400Ser		37220929	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431338	0.43122	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26067	1.79;1.79;1.76;1.76	5.76	1.7	0.24286	.	0.440623	0.19408	N	0.115001	T	0.13970	0.0338	N	0.24115	0.695	0.25881	N	0.983585	B;B	0.33940	0.05;0.433	B;B	0.27887	0.04;0.084	T	0.17592	-1.0364	10	0.21014	T	0.42	.	11.1453	0.48426	0.0:0.5029:0.2868:0.2103	.	1400;281	E9PH94;Q9H799	.;CE042_HUMAN	S	1400;1400;281;448;281	ENSP00000421690:T1400S;ENSP00000389014:T1400S;ENSP00000274258:T281S;ENSP00000424223:T448S	ENSP00000274258:T281S	T	-	2	0	C5orf42	37220929	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	0.565000	0.23578	0.024000	0.15214	0.591000	0.81541	ACT		0.393	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	37701163	37701163	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:37701163A>G	ENST00000265107.4	+	12	1352	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G	RNU6-484P_ENST00000384016.1_RNA|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	399							enzyme binding (GO:0019899)	p.D399G(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)			CTGTCAGGTGACGATTCATTA	0.373																																					p.D399G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1196G	5						.						84.0	85.0	85.0					5																	37701163		2203	4300	6503	37736920	SO:0001583	missense	55100	exon12			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.1196A>G	5.37:g.37701163A>G	ENSP00000265107:p.Asp399Gly		37736920	NM_018034	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551970	0.86127	.	.	ENSG00000082068	ENST00000265107	D	0.89270	-2.49	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95266	0.8373	10	0.87932	D	0	-7.6208	15.0362	0.71748	1.0:0.0:0.0:0.0	.	399	Q9NW82	WDR70_HUMAN	G	399	ENSP00000265107:D399G	ENSP00000265107:D399G	D	+	2	0	WDR70	37736920	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.985000	0.88162	2.033000	0.60031	0.528000	0.53228	GAC		0.373	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034	
C5orf51	285636	broad.mit.edu	37	5	41917125	41917125	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:41917125T>C	ENST00000381647.2	+	6	628	c.609T>C	c.(607-609)ttT>ttC	p.F203F		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	203								p.F203F(1)		endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGAATATTTAGTGACATTC	0.348																																					p.F203F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T609C	5						.						94.0	95.0	95.0					5																	41917125		2203	4300	6503	41952882	SO:0001819	synonymous_variant	285636	exon6			AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.609T>C	5.37:g.41917125T>C			41952882	NM_175921	A2RRM9	Silent	SNP	ENST00000381647.2	37	CCDS34151.1																																																																																				0.348	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921	
SKIV2L2	23517	broad.mit.edu	37	5	54662555	54662555	+	Silent	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:54662555C>A	ENST00000230640.5	+	16	1916	c.1662C>A	c.(1660-1662)ggC>ggA	p.G554G	SKIV2L2_ENST00000545714.1_Silent_p.G453G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	554	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.G554G(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCTCTTAGGGCTCCGCTGATC	0.323																																					p.G554G	Melanoma(2;92 134 23744 29976 33782)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1662A	5						.						71.0	76.0	75.0					5																	54662555		2203	4300	6503	54698312	SO:0001819	synonymous_variant	23517	exon16			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1662C>A	5.37:g.54662555C>A			54698312	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
PLK2	10769	broad.mit.edu	37	5	57753012	57753012	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:57753012delA	ENST00000274289.3	-	7	1304	c.1004delT	c.(1003-1005)ttgfs	p.L335fs	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	335					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L335fs*68(2)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACCAACCTGCAAAAAAAAGTC	0.413																																					p.L335fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1004delT	5						.						72.0	69.0	70.0					5																	57753012		2203	4300	6503	57788769	SO:0001589	frameshift_variant	10769	exon7				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1004delT	5.37:g.57753012delA	ENSP00000274289:p.Leu335fs		57788769	NM_006622	O60679|Q96CV7|Q9UE61	Frame_Shift_Del	DEL	ENST00000274289.3	37	CCDS3974.1																																																																																				0.413	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
CWC27	10283	broad.mit.edu	37	5	64079679	64079679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:64079679G>A	ENST00000381070.3	+	4	486	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	CWC27_ENST00000508024.1_Missense_Mutation_p.R90Q	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	90	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				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.R90Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TTTCATTCACGGTTGCGTTTT	0.418																																					p.R90Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	5						.						193.0	187.0	189.0					5																	64079679		2203	4300	6503	64115435	SO:0001583	missense	10283	exon4			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.269G>A	5.37:g.64079679G>A	ENSP00000370460:p.Arg90Gln		64115435	NM_005869	O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733641	0.89482	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.22336	1.96;1.96	5.45	3.68	0.42216	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.70903	2.155	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;0.998;0.994;0.997	T	0.38607	-0.9653	10	0.72032	D	0.01	.	11.9914	0.53178	0.1377:0.0:0.8623:0.0	.	90;90;90;90	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	Q	90	ENSP00000370460:R90Q;ENSP00000426802:R90Q	ENSP00000370460:R90Q	R	+	2	0	CWC27	64115435	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.195000	0.94971	0.868000	0.35678	0.585000	0.79938	CGG		0.418	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	
NLN	57486	broad.mit.edu	37	5	65118690	65118690	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:65118690C>T	ENST00000380985.5	+	13	2240	c.2062C>T	c.(2062-2064)Cgt>Tgt	p.R688C	NLN_ENST00000502464.1_Missense_Mutation_p.R584C|NLN_ENST00000515595.1_3'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	688						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.R688C(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTTCTTGAAACGTGAGCCAAA	0.458																																					p.R688C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2062T	5						.						171.0	159.0	163.0					5																	65118690		2203	4300	6503	65154446	SO:0001583	missense	57486	exon13			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.2062C>T	5.37:g.65118690C>T	ENSP00000370372:p.Arg688Cys		65154446	NM_020726	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506543	0.85282	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000511299	T;T;T	0.14266	2.52;2.52;2.52	5.75	5.75	0.90469	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75808	-0.3187	10	0.87932	D	0	-13.979	19.9598	0.97242	0.0:1.0:0.0:0.0	.	365;688	Q96K48;Q9BYT8	.;NEUL_HUMAN	C	688;584;398	ENSP00000370372:R688C;ENSP00000423214:R584C;ENSP00000427417:R398C	ENSP00000370372:R688C	R	+	1	0	NLN	65154446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.781000	0.62389	2.716000	0.92895	0.655000	0.94253	CGT		0.458	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1		
SLC30A5	64924	broad.mit.edu	37	5	68417574	68417574	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:68417574C>T	ENST00000396591.3	+	13	2233	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	541					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S541S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTGCCTTtagccatgcccata	0.433																																					p.S541S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1623T	5						.						61.0	49.0	53.0					5																	68417574		2203	4300	6503	68453330	SO:0001819	synonymous_variant	64924	exon13			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1623C>T	5.37:g.68417574C>T			68453330	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602840	0.66445	.	.	ENSG00000145740	ENST00000438236	.	.	.	4.85	3.97	0.46021	.	.	.	.	.	T	0.60534	0.2276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57911	-0.7729	4	.	.	.	.	10.577	0.45233	0.0:0.8387:0.0:0.1613	.	.	.	.	S	137	.	.	P	+	1	0	SLC30A5	68453330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.614000	0.36911	1.229000	0.43630	0.585000	0.79938	CCA		0.433	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
CCNB1	891	broad.mit.edu	37	5	68470115	68470115	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:68470115G>A	ENST00000256442.5	+	5	837	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	195					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)	p.R195Q(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTACTGGGTCGGGAAGTCACT	0.428																																					p.R195Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584A	5						.						177.0	165.0	169.0					5																	68470115		2203	4300	6503	68505871	SO:0001583	missense	891	exon5			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.584G>A	5.37:g.68470115G>A	ENSP00000256442:p.Arg195Gln		68505871	NM_031966	A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	G	8.658	0.899935	0.17686	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	6.16	0.574	0.17368	Cyclin, N-terminal (1);Cyclin-like (2);	0.231957	0.44483	N	0.000458	T	0.01800	0.0057	N	0.00263	-1.745	0.38286	D	0.942564	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.09377	0.003;0.004;0.001	T	0.47971	-0.9075	10	0.02654	T	1	.	8.3446	0.32266	0.6442:0.0:0.3558:0.0	.	195;195;195	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	Q	195;195;195;11	ENSP00000256442:R195Q;ENSP00000423387:R195Q;ENSP00000424588:R195Q;ENSP00000426230:R11Q	ENSP00000256442:R195Q	R	+	2	0	CCNB1	68505871	0.054000	0.20591	0.938000	0.37757	0.970000	0.65996	1.465000	0.35299	0.151000	0.19162	-0.312000	0.09012	CGG		0.428	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966	
MAP1B	4131	broad.mit.edu	37	5	71494556	71494556	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:71494556T>C	ENST00000296755.7	+	5	5672	c.5374T>C	c.(5374-5376)Tcc>Ccc	p.S1792P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1792					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)	p.S1792P(1)		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)		CCCACGAGAGTCCTCTCCTTT	0.443																																					p.S1792P	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5374C	5						.						48.0	53.0	51.0					5																	71494556		2203	4300	6503	71530312	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.5374T>C	5.37:g.71494556T>C	ENSP00000296755:p.Ser1792Pro		71530312	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029762	0.35797	.	.	ENSG00000131711	ENST00000296755	T	0.03982	3.74	5.36	2.71	0.32032	.	0.211869	0.33753	N	0.004585	T	0.05273	0.0140	N	0.24115	0.695	0.49389	D	0.999781	D;D	0.60575	0.966;0.988	P;P	0.49012	0.598;0.598	T	0.46541	-0.9184	10	0.56958	D	0.05	-11.5688	8.3337	0.32202	0.1314:0.0:0.1375:0.7311	.	1666;1792	A2BDK6;P46821	.;MAP1B_HUMAN	P	1792	ENSP00000296755:S1792P	ENSP00000296755:S1792P	S	+	1	0	MAP1B	71530312	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.994000	0.40757	0.946000	0.37632	0.450000	0.29827	TCC		0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
ZNF366	167465	broad.mit.edu	37	5	71752359	71752359	+	Nonsense_Mutation	SNP	G	G	A	rs368803831		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:71752359G>A	ENST00000318442.5	-	3	1886	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	466	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R466*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGCACGTGTCGCTTCATGTTG	0.547																																					p.R466X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1396T	5						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	288.0	240.0	256.0		1396	4.7	1.0	5		256	0,8600		0,0,4300	no	stop-gained	ZNF366	NM_152625.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		466/745	71752359	1,13005	2203	4300	6503	71788115	SO:0001587	stop_gained	167465	exon3			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1396C>T	5.37:g.71752359G>A	ENSP00000313158:p.Arg466*		71788115	NM_152625	Q5HYI9|Q7RTV4	Nonsense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	43	10.196121	0.99357	2.27E-4	0.0	ENSG00000178175	ENST00000318442	.	.	.	5.82	4.69	0.59074	.	0.073448	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8397	12.8843	0.58034	0.0:0.0:0.1529:0.8471	.	.	.	.	X	466	.	ENSP00000313158:R466X	R	-	1	2	ZNF366	71788115	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.957000	0.40392	1.082000	0.41137	0.585000	0.79938	CGA		0.547	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3		
TNPO1	3842	broad.mit.edu	37	5	72178954	72178954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:72178954C>T	ENST00000337273.5	+	11	1471	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	TNPO1_ENST00000506351.2_Nonsense_Mutation_p.R341*|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.R299*|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.R299*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	349					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.R341*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACGTTTTCACCGATCGAGGAC	0.403																																					p.R341X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1021T	5						.						104.0	100.0	102.0					5																	72178954		2203	4300	6503	72214710	SO:0001587	stop_gained	3842	exon11			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1045C>T	5.37:g.72178954C>T	ENSP00000336712:p.Arg349*		72214710	NM_153188	B4DVC6|Q92957|Q92975	Nonsense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208723	0.95069	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-8.4177	14.533	0.67939	0.1465:0.8534:0.0:0.0	.	.	.	.	X	349;299;299;341	.	ENSP00000336712:R349X	R	+	1	2	TNPO1	72214710	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	1.349000	0.33998	2.737000	0.93849	0.585000	0.79938	CGA		0.403	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
AP3B1	8546	broad.mit.edu	37	5	77334914	77334914	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:77334914T>C	ENST00000255194.6	-	23	2937	c.2762A>G	c.(2761-2763)gAa>gGa	p.E921G	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Missense_Mutation_p.E872G	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	921					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)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.E921G(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAGTTTTTTTTCCCCTATGTG	0.294									Hermansky-Pudlak syndrome																												p.E921G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2762G	5						.						103.0	100.0	101.0					5																	77334914		2203	4299	6502	77370670	SO:0001583	missense	8546	exon23	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2762A>G	5.37:g.77334914T>C	ENSP00000255194:p.Glu921Gly		77370670	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.10|11.10	1.537959|1.537959	0.27475|0.27475	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.56103|.	0.48;0.48|.	5.46|5.46	0.444|0.444	0.16592|0.16592	.|.	0.500014|.	0.23169|.	N|.	0.051148|.	T|T	0.31638|0.31638	0.0803|0.0803	L|L	0.28400|0.28400	0.85|0.85	0.26052|0.26052	N|N	0.981461|0.981461	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.21540|.	T|.	0.41|.	-3.5735|-3.5735	9.1386|9.1386	0.36890|0.36890	0.0:0.2786:0.0:0.7214|0.0:0.2786:0.0:0.7214	.|.	921|.	O00203|.	AP3B1_HUMAN|.	G|E	921;872|21	ENSP00000255194:E921G;ENSP00000430597:E872G|.	ENSP00000255194:E921G|.	E|K	-|-	2|1	0|0	AP3B1|AP3B1	77370670|77370670	0.411000|0.411000	0.25384|0.25384	0.064000|0.064000	0.19789|0.19789	0.777000|0.777000	0.43975|0.43975	1.115000|1.115000	0.31209|0.31209	-0.075000|-0.075000	0.12798|0.12798	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.294	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
CMYA5	202333	broad.mit.edu	37	5	79028814	79028814	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:79028814A>G	ENST00000446378.2	+	2	4257	c.4226A>G	c.(4225-4227)gAa>gGa	p.E1409G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1409					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.E1409G(2)		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)		TCTGCAGATGAACATTCAGTT	0.418																																					p.E1409G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4226G	5						.						34.0	34.0	34.0					5																	79028814		1884	4104	5988	79064570	SO:0001583	missense	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.4226A>G	5.37:g.79028814A>G	ENSP00000394770:p.Glu1409Gly		79064570	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	5.383	0.255986	0.10185	.	.	ENSG00000164309	ENST00000446378	T	0.06608	3.28	6.08	2.33	0.28932	.	0.675838	0.12870	N	0.432326	T	0.05960	0.0155	N	0.22421	0.69	0.09310	N	1	P	0.52842	0.956	P	0.47528	0.549	T	0.34179	-0.9839	10	0.72032	D	0.01	.	4.2558	0.10717	0.5717:0.0:0.0842:0.3441	.	1409	Q8N3K9	CMYA5_HUMAN	G	1409	ENSP00000394770:E1409G	ENSP00000394770:E1409G	E	+	2	0	CMYA5	79064570	0.037000	0.19845	0.003000	0.11579	0.218000	0.24690	0.535000	0.23114	0.481000	0.27557	0.528000	0.53228	GAA		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
GPR98	84059	broad.mit.edu	37	5	90106492	90106492	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:90106492G>A	ENST00000405460.2	+	74	15511	c.15415G>A	c.(15415-15417)Gag>Aag	p.E5139K	GPR98_ENST00000425867.2_Missense_Mutation_p.E800K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5139					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.E5139K(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)		TTCCTTCCCCGAGACAACTGT	0.453																																					p.E5139K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15415A	5						.						176.0	175.0	175.0					5																	90106492		1960	4159	6119	90142248	SO:0001583	missense	84059	exon74			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.15415G>A	5.37:g.90106492G>A	ENSP00000384582:p.Glu5139Lys		90142248	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.161629	0.00321	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27557	1.77;1.66	5.1	-5.37	0.02681	.	2.220440	0.01527	N	0.018601	T	0.07234	0.0183	N	0.00538	-1.39	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	0.21449	-1.0245	9	.	.	.	.	3.2348	0.06761	0.2788:0.1415:0.442:0.1377	.	800;5139;800	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	K	5139;5139;800	ENSP00000384582:E5139K;ENSP00000392618:E800K	.	E	+	1	0	GPR98	90142248	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.202000	0.09451	-0.520000	0.06435	-2.466000	0.00204	GAG		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCSK1	5122	broad.mit.edu	37	5	95748167	95748167	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:95748167G>A	ENST00000311106.3	-	7	974	c.737C>T	c.(736-738)aCg>aTg	p.T246M	PCSK1_ENST00000508626.1_Missense_Mutation_p.T199M|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	246	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.T246R(1)|p.T246M(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AATAGCATCCGTCACAATGCC	0.438																																					p.T199M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C596T	5						.						94.0	81.0	86.0					5																	95748167		2203	4300	6503	95773923	SO:0001583	missense	5122	exon7				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.737C>T	5.37:g.95748167G>A	ENSP00000308024:p.Thr246Met		95773923	NM_001177875	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805225	0.90623	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.90004	-2.6;-2.6	5.47	5.47	0.80525	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.96283	0.9208	10	0.87932	D	0	-20.3318	18.9299	0.92561	0.0:0.0:1.0:0.0	.	199;246	E9PHA1;P29120	.;NEC1_HUMAN	M	246;199	ENSP00000308024:T246M;ENSP00000421600:T199M	ENSP00000308024:T246M	T	-	2	0	PCSK1	95773923	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	9.476000	0.97823	2.565000	0.86533	0.655000	0.94253	ACG		0.438	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
LNPEP	4012	broad.mit.edu	37	5	96315439	96315439	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:96315439A>C	ENST00000231368.5	+	2	1309	c.617A>C	c.(616-618)aAt>aCt	p.N206T	LNPEP_ENST00000395770.3_Missense_Mutation_p.N192T	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	206					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 peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N206T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GTCACATGGAATATCATTCTT	0.428																																					p.N206T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A617C	5						.						120.0	118.0	118.0					5																	96315439		2203	4300	6503	96341195	SO:0001583	missense	4012	exon2			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.617A>C	5.37:g.96315439A>C	ENSP00000231368:p.Asn206Thr		96341195	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	9.966	1.224227	0.22457	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.02498	4.27;4.27	5.84	4.61	0.57282	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.512645	0.23413	N	0.048456	T	0.02304	0.0071	N	0.17379	0.485	0.28962	N	0.889743	B	0.06786	0.001	B	0.04013	0.001	T	0.37549	-0.9701	10	0.22109	T	0.4	.	12.4356	0.55598	0.86:0.14:0.0:0.0	.	206	Q9UIQ6	LCAP_HUMAN	T	206;192	ENSP00000231368:N206T;ENSP00000379117:N192T	ENSP00000231368:N206T	N	+	2	0	LNPEP	96341195	1.000000	0.71417	0.953000	0.39169	0.975000	0.68041	3.680000	0.54641	2.226000	0.72624	0.482000	0.46254	AAT		0.428	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
PCDHGB3	56102	broad.mit.edu	37	5	140795209	140795209	+	Intron	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	-	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:140795209delA	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTTTGTTAAAAAAAAAAA	0.313																																					p.K823fs												.	.	0			c.2467delA	5						.						24.0	23.0	24.0					5																	140795209		1905	4152	6057	140775393	SO:0001627	intron_variant	56106	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+42833A>-	5.37:g.140795209delA			140775393	NM_032090	A7E229|Q9Y5C7	Frame_Shift_Del	DEL	ENST00000576222.1	37	CCDS58980.1																																																																																				0.313	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
GFPT2	9945	broad.mit.edu	37	5	179763551	179763551	+	Missense_Mutation	SNP	C	C	T	rs370818985		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr5:179763551C>T	ENST00000253778.8	-	3	311	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	48	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.E48K(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCTTTGACTTCGTGATTATTC	0.468																																					p.E48K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142A	5						.	C	LYS/GLU	0,4016		0,0,2008	225.0	233.0	230.0		142	6.2	0.7	5		230	1,8379		0,1,4189	no	missense	GFPT2	NM_005110.2	56	0,1,6197	TT,TC,CC		0.0119,0.0,0.0081	benign	48/683	179763551	1,12395	2008	4190	6198	179696157	SO:0001583	missense	9945	exon3			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.142G>A	5.37:g.179763551C>T	ENSP00000253778:p.Glu48Lys		179696157	NM_005110	Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084396	0.20309	0.0	1.19E-4	ENSG00000131459	ENST00000253778	T	0.43688	0.94	6.17	6.17	0.99709	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.430351	0.30151	N	0.010300	T	0.21801	0.0525	N	0.04203	-0.255	0.34738	D	0.730483	B	0.11235	0.004	B	0.09377	0.004	T	0.28808	-1.0032	9	.	.	.	-11.7463	13.6699	0.62418	0.0:0.9294:0.0:0.0706	.	48	O94808	GFPT2_HUMAN	K	48	ENSP00000253778:E48K	.	E	-	1	0	GFPT2	179696157	0.982000	0.34865	0.663000	0.29738	0.006000	0.05464	2.525000	0.45598	2.941000	0.99782	0.655000	0.94253	GAA		0.468	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	
CDKAL1	54901	broad.mit.edu	37	6	21065431	21065432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:21065431_21065432insA	ENST00000378610.1	+	10	1218_1219	c.1208_1209insA	c.(1207-1212)gcaaaafs	p.AK403fs	CDKAL1_ENST00000274695.4_Frame_Shift_Ins_p.AK403fs|CDKAL1_ENST00000378624.4_Frame_Shift_Ins_p.AK333fs			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	403					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.M405fs*27(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACTCCTGCTGCAAAAATGGAAC	0.386																																					p.A403fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1208_1209insA	6						.																																			21173411	SO:0001589	frameshift_variant	54901	exon12			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1213dupA	6.37:g.21065436_21065436dupA	ENSP00000367873:p.Ala403fs		21173410	NM_017774	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Frame_Shift_Ins	INS	ENST00000378610.1	37	CCDS4546.1																																																																																				0.386	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774	
ZNF184	7738	broad.mit.edu	37	6	27420172	27420173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:27420172_27420173insT	ENST00000211936.6	-	6	1449_1450	c.1165_1166insA	c.(1165-1167)accfs	p.T389fs	ZNF184_ENST00000377419.1_Frame_Shift_Ins_p.T389fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	389					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.T389fs*3(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						ACATTTATAGGTTTTTTCTCCA	0.371																																					p.T389fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1166_1167insA	6						.																																			27528152	SO:0001589	frameshift_variant	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.1166dupA	6.37:g.27420178_27420178dupT	ENSP00000211936:p.Thr389fs		27528151	NM_007149	B2R715|O60792|Q8TBA9	Frame_Shift_Ins	INS	ENST00000211936.6	37	CCDS4624.1																																																																																				0.371	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
HLA-B	3106	broad.mit.edu	37	6	31324601	31324602	+	Frame_Shift_Ins	INS	-	-	A	rs41562914|rs41541416|rs9281379	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:31324601_31324602insA	ENST00000412585.2	-	2	234_235	c.206_207insT	c.(205-207)gagfs	p.E69fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*30(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCGCGGCTCCTCTCTCGGACT	0.673									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				|||unknown(NO_COVERAGE)	34	0.00678914	0.0	0.0014	5008	,	,		7961	0.0188		0.0	False		,,,				2504	0.0143				p.E69fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.207_208insT	6						.			1399,160,2559		395,63,546,25,47,983						0.1	0.1		dbSNP_130	35	1793,477,5714		469,110,745,86,195,2387	no	codingComplex	HLA-B	NM_005514.6		864,173,1291,111,242,3370	A1A1,A1A2,A1R,A2A2,A2R,RR		28.4319,37.8582,31.6394				3192,637,8273				31432581	SO:0001589	frameshift_variant	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.206_207insT	6.37:g.31324601_31324602insA	ENSP00000399168:p.Glu69fs		31432580	NM_005514	Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	CCDS34394.1																																																																																				0.673	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
PKHD1	5314	broad.mit.edu	37	6	51909814	51909815	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:51909814_51909815insA	ENST00000371117.3	-	25	2939_2940	c.2664_2665insT	c.(2662-2667)tttcttfs	p.L889fs	PKHD1_ENST00000340994.4_Frame_Shift_Ins_p.L889fs	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	889					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L889fs*24(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGGGTCCAAGAAAAACTCCAC	0.465																																					p.L889fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2665_2666insT	6						.																																			52017774	SO:0001589	frameshift_variant	5314	exon25			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2665dupT	6.37:g.51909819_51909819dupA	ENSP00000360158:p.Leu889fs		52017773	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Frame_Shift_Ins	INS	ENST00000371117.3	37	CCDS4935.1																																																																																				0.465	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
HACE1	57531	broad.mit.edu	37	6	105232292	105232292	+	Splice_Site	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:105232292C>A	ENST00000262903.4	-	13	1754	c.1478G>T	c.(1477-1479)aGa>aTa	p.R493I	HACE1_ENST00000369125.2_Splice_Site_p.R493I|HACE1_ENST00000517995.1_5'Flank	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	493					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.R493I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GAAAGCTTACCTATTAACAAA	0.353																																					p.R493I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1478T	6						.						68.0	68.0	68.0					6																	105232292		2203	4300	6503	105338985	SO:0001630	splice_region_variant	57531	exon13			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1478+1G>T	6.37:g.105232292C>A			105338985	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263116	0.59431	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.44083	1.1;0.93	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	N	0.22421	0.69	0.80722	D	1	D;B;B	0.61697	0.99;0.004;0.004	D;B;B	0.66497	0.944;0.004;0.01	T	0.17653	-1.0362	9	.	.	.	.	18.8554	0.92249	0.0:1.0:0.0:0.0	.	493;493;146	E9PGP0;Q8IYU2;Q8IYU2-3	.;HACE1_HUMAN;.	I	493	ENSP00000262903:R493I;ENSP00000358121:R493I	.	R	-	2	0	HACE1	105338985	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.191000	0.77763	2.525000	0.85131	0.491000	0.48974	AGA		0.353	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Missense_Mutation
QRSL1	55278	broad.mit.edu	37	6	107102765	107102765	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:107102765C>T	ENST00000369046.4	+	8	1114	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1									p.S337L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GAAGTGGCATCGAATATGGCA	0.388																																					p.S337L	NSCLC(192;2127 2142 11668 26277 49545)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010T	6						.						164.0	155.0	158.0					6																	107102765		2203	4300	6503	107209458	SO:0001583	missense	55278	exon8			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1010C>T	6.37:g.107102765C>T	ENSP00000358042:p.Ser337Leu		107209458	NM_018292		Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338861	0.81911	.	.	ENSG00000130348	ENST00000369046	T	0.57436	0.4	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	H	0.95574	3.69	0.80722	D	1	P	0.52842	0.956	P	0.51516	0.672	T	0.81747	-0.0791	10	0.87932	D	0	-5.6524	19.4594	0.94910	0.0:1.0:0.0:0.0	.	337	Q9H0R6	GATA_HUMAN	L	337	ENSP00000358042:S337L	ENSP00000358042:S337L	S	+	2	0	QRSL1	107209458	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.454000	0.80714	2.605000	0.88082	0.591000	0.81541	TCG		0.388	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292	
ARMC2	84071	broad.mit.edu	37	6	109249424	109249424	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:109249424C>T	ENST00000392644.4	+	11	1652	c.1484C>T	c.(1483-1485)gCc>gTc	p.A495V	ARMC2_ENST00000368972.3_Missense_Mutation_p.A330V	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	495								p.A488V(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ACCAATATTGCCAGAATATTC	0.418																																					p.A495V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1484T	6						.						156.0	144.0	148.0					6																	109249424		2203	4300	6503	109356117	SO:0001583	missense	84071	exon11			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1484C>T	6.37:g.109249424C>T	ENSP00000376417:p.Ala495Val		109356117	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438874	0.43326	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.52754	0.65;0.65	5.39	3.52	0.40303	Armadillo-like helical (1);Armadillo-type fold (1);	0.276572	0.40908	N	0.000990	T	0.15132	0.0365	L	0.33189	0.99	0.37996	D	0.934083	B	0.14805	0.011	B	0.16289	0.015	T	0.06807	-1.0806	10	0.14656	T	0.56	.	8.8222	0.35032	0.0:0.813:0.0:0.187	.	495	Q8NEN0	ARMC2_HUMAN	V	330;495	ENSP00000357968:A330V;ENSP00000376417:A495V	ENSP00000357968:A330V	A	+	2	0	ARMC2	109356117	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	1.187000	0.32090	0.688000	0.31529	-0.355000	0.07637	GCC		0.418	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
REV3L	5980	broad.mit.edu	37	6	111695094	111695094	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:111695094A>G	ENST00000358835.3	-	14	4918	c.4464T>C	c.(4462-4464)ccT>ccC	p.P1488P	REV3L_ENST00000368805.1_Silent_p.P1488P|REV3L_ENST00000435970.1_Silent_p.P1410P|REV3L_ENST00000368802.3_Silent_p.P1488P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1488					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.P1410P(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTACTCTTTCAGGTTTAAAAT	0.358								DNA polymerases (catalytic subunits)																													p.P1488P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4464C	6						.						107.0	105.0	105.0					6																	111695094		2203	4300	6503	111801787	SO:0001819	synonymous_variant	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4464T>C	6.37:g.111695094A>G			111801787	NM_002912	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																				0.358	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
HSF2	3298	broad.mit.edu	37	6	122741334	122741334	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:122741334A>G	ENST00000368455.4	+	7	840	c.648A>G	c.(646-648)atA>atG	p.I216M	HSF2_ENST00000452194.1_Missense_Mutation_p.I216M	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	216					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I216M(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TTCAGCACATAGTCAAAGAAC	0.328																																					p.I216M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A648G	6						.						117.0	112.0	113.0					6																	122741334		2203	4300	6503	122783033	SO:0001583	missense	3298	exon7			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.648A>G	6.37:g.122741334A>G	ENSP00000357440:p.Ile216Met		122783033	NM_004506	B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971698	0.34754	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.53	1.59	0.23543	.	0.094221	0.64402	D	0.000001	T	0.26629	0.0651	L	0.51422	1.61	0.40698	D	0.982459	B;B;B	0.29270	0.24;0.155;0.062	B;B;B	0.27170	0.077;0.029;0.015	T	0.05954	-1.0854	9	0.26408	T	0.33	-11.8511	5.6644	0.17687	0.5478:0.2133:0.0:0.2389	.	216;216;216	Q03933-2;Q03933;Q9BS48	.;HSF2_HUMAN;.	M	216	.	ENSP00000357440:I216M	I	+	3	3	HSF2	122783033	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.979000	0.29500	0.890000	0.36211	0.455000	0.32223	ATA		0.328	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506	
NCOA7	135112	broad.mit.edu	37	6	126243834	126243834	+	Missense_Mutation	SNP	C	C	G	rs112577756		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:126243834C>G	ENST00000368357.3	+	14	2729	c.2377C>G	c.(2377-2379)Cga>Gga	p.R793G	NCOA7_ENST00000229634.9_Missense_Mutation_p.R678G|NCOA7_ENST00000392477.2_Missense_Mutation_p.R793G	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	793					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.R793G(1)|p.A87G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GTAGCTGGCCCGACGCCTTCC	0.498																																					p.R793G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2377G	6						.	C	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	0,4406		0,0,2203	110.0	97.0	101.0		2344,2377,2377,2032,208,2377	5.1	1.0	6	dbSNP_132	101	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense,missense,missense,missense	NCOA7	NM_001122842.2,NM_001199619.1,NM_001199620.1,NM_001199621.1,NM_001199622.1,NM_181782.4	125,125,125,125,125,125	0,3,6500	GG,GC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	782/932,793/943,793/943,678/828,70/220,793/943	126243834	3,13003	2203	4300	6503	126285527	SO:0001583	missense	135112	exon15			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2377C>G	6.37:g.126243834C>G	ENSP00000357341:p.Arg793Gly		126285527	NM_001199620	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.997964|3.997964	0.74818|0.74818	0.0|0.0	3.49E-4|3.49E-4	ENSG00000111912|ENSG00000111912	ENST00000448104;ENST00000438495;ENST00000444128|ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353	.|T;T;T;T	.|0.30714	.|2.73;2.73;2.74;1.52	5.97|5.97	5.07|5.07	0.68467|0.68467	.|TLDc (1);	.|0.252340	.|0.40064	.|N	.|0.001194	T|T	0.35653|0.35653	0.0939|0.0939	L|L	0.42245|0.42245	1.32|1.32	0.37174|0.37174	D|D	0.90317|0.90317	.|P;B;D;D	.|0.67145	.|0.858;0.0;0.996;0.994	.|B;B;P;P	.|0.61722	.|0.274;0.007;0.893;0.785	T|T	0.04551|0.04551	-1.0943|-1.0943	5|10	.|0.51188	.|T	.|0.08	-8.5206|-8.5206	16.2256|16.2256	0.82288|0.82288	0.1336:0.8664:0.0:0.0|0.1336:0.8664:0.0:0.0	.|.	.|782;87;782;793	.|B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08	.|.;.;.;NCOA7_HUMAN	R|G	87|793;793;678;103;103	.|ENSP00000357341:R793G;ENSP00000376269:R793G;ENSP00000229634:R678G;ENSP00000411002:R103G	.|ENSP00000229634:R678G	P|R	+|+	2|1	0|2	NCOA7|NCOA7	126285527|126285527	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.681000|0.681000	0.25320|0.25320	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.498	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
TRMT11	60487	broad.mit.edu	37	6	126332473	126332473	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:126332473T>C	ENST00000334379.5	+	9	956	c.835T>C	c.(835-837)Tta>Cta	p.L279L	TRMT11_ENST00000368332.3_Silent_p.L279L	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	279					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.L279L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TCAATATGGTTTAGAGAAGTA	0.403																																					p.L279L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T835C	6						.						111.0	87.0	95.0					6																	126332473		2203	4300	6503	126374166	SO:0001819	synonymous_variant	60487	exon9			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.835T>C	6.37:g.126332473T>C			126374166	NM_001031712	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	T	9.601	1.128665	0.21041	.	.	ENSG00000066651	ENST00000453993	.	.	.	5.62	3.15	0.36227	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-10.0584	10.4095	0.44285	0.0:0.1271:0.0:0.8729	.	.	.	.	S	77	.	.	F	+	2	0	TRMT11	126374166	0.998000	0.40836	0.997000	0.53966	0.998000	0.95712	1.452000	0.35156	0.387000	0.25024	0.533000	0.62120	TTT		0.403	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820	
PHACTR1	221692	broad.mit.edu	37	6	13206344	13206344	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:13206344C>T	ENST00000379350.1	+	7	1091	c.962C>T	c.(961-963)gCc>gTc	p.A321V	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.A321V|PHACTR1_ENST00000457702.2_Missense_Mutation_p.A176V			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	321					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.A321V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AAAACGCTGGCCATGACCATG	0.642																																					p.A321V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C962T	6						.						15.0	16.0	16.0					6																	13206344		1992	4170	6162	13314323	SO:0001583	missense	221692	exon7			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.962C>T	6.37:g.13206344C>T	ENSP00000368655:p.Ala321Val		13314323	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.731481|4.731481	0.89390|0.89390	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.55052|.	0.54;0.76;0.79|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.993;0.996|.	D;D;D|.	0.75484|.	0.972;0.968;0.986|.	T|T	0.35748|0.35748	-0.9776|-0.9776	10|5	0.56958|.	D|.	0.05|.	-15.8744|-15.8744	17.1412|17.1412	0.86754|0.86754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	390;321;321|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	V|S	321;321;390;176|156	ENSP00000368655:A321V;ENSP00000329880:A321V;ENSP00000397669:A176V|.	ENSP00000329880:A321V|.	A|P	+|+	2|1	0|0	PHACTR1|PHACTR1	13314323|13314323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.326000|5.326000	0.65875|0.65875	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.642	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
SOGA3	387104	broad.mit.edu	37	6	127796545	127796545	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:127796545C>T	ENST00000525778.1	-	6	3371	c.2626G>A	c.(2626-2628)Gct>Act	p.A876T	SOGA3_ENST00000481848.2_Missense_Mutation_p.A876T|SOGA3_ENST00000465909.2_Missense_Mutation_p.A876T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A876T|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_Missense_Mutation_p.A876T			Q5TF21	SOGA3_HUMAN	SOGA family member 3	876					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A876T(1)									TTCATCTGAGCGTTGATGCGG	0.657																																					p.A876T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2626A	6						.						60.0	69.0	66.0					6																	127796545		2164	4255	6419	127838238	SO:0001583	missense	387104	exon6			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2626G>A	6.37:g.127796545C>T	ENSP00000434570:p.Ala876Thr		127838238	NM_001012279		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163480	0.78226	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.39245	1.2	0.80722	D	1	P	0.39352	0.669	B	0.31245	0.126	T	0.02721	-1.1119	10	0.44086	T	0.13	-14.9954	19.9031	0.96996	0.0:1.0:0.0:0.0	.	876	Q5TF21	CF174_HUMAN	T	876	ENSP00000451768:A876T;ENSP00000357251:A876T;ENSP00000434570:A876T;ENSP00000435559:A876T	ENSP00000435559:A876T	A	-	1	0	C6orf174	127838238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.770000	0.85390	2.710000	0.92621	0.561000	0.74099	GCT		0.657	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
MAP7	9053	broad.mit.edu	37	6	136683598	136683598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:136683598C>A	ENST00000354570.3	-	11	1926	c.1516G>T	c.(1516-1518)Gag>Tag	p.E506*	MAP7_ENST00000438100.2_Nonsense_Mutation_p.E491*|MAP7_ENST00000432797.2_Nonsense_Mutation_p.E360*|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000454590.1_Nonsense_Mutation_p.E528*|MAP7_ENST00000544465.1_Nonsense_Mutation_p.E491*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	506					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.E506*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTTTCAAGCTCTTCCTGCTCC	0.532																																					p.E528X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1582T	6						.						232.0	217.0	222.0					6																	136683598		2203	4300	6503	136725291	SO:0001587	stop_gained	9053	exon12			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1516G>T	6.37:g.136683598C>A	ENSP00000346581:p.Glu506*		136725291	NM_001198614	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Nonsense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670550	0.88348	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	.	.	.	6.03	5.16	0.70880	.	0.106801	0.41001	D	0.000967	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.3401	17.3952	0.87443	0.0:0.8752:0.1248:0.0	.	.	.	.	X	506;528;491;491;360;412	.	ENSP00000344217:E412X	E	-	1	0	MAP7	136725291	1.000000	0.71417	0.883000	0.34634	0.036000	0.12997	5.706000	0.68362	1.553000	0.49476	0.557000	0.71058	GAG		0.532	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	
HEBP2	23593	broad.mit.edu	37	6	138726380	138726380	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:138726380G>A	ENST00000607197.1	+	2	478	c.201G>A	c.(199-201)acG>acA	p.T67T	HEBP2_ENST00000448741.1_Silent_p.T78T|HEBP2_ENST00000367697.3_Silent_p.T67T	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	67					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CGGGCTTTACGAAACTGAACA	0.468																																					p.T67T												.	.	0			c.G201A	6						.						112.0	105.0	107.0					6																	138726380		2203	4300	6503	138768073	SO:0001819	synonymous_variant	23593	exon2			AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.201G>A	6.37:g.138726380G>A			138768073	NM_014320	Q96P57	Silent	SNP	ENST00000607197.1	37	CCDS5191.1																																																																																				0.468	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2		
AIG1	51390	broad.mit.edu	37	6	143605291	143605291	+	Silent	SNP	G	G	A	rs116356431	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:143605291G>A	ENST00000275235.4	+	4	469	c.444G>A	c.(442-444)tcG>tcA	p.S148S	AIG1_ENST00000357847.4_Silent_p.S148S|AIG1_ENST00000344492.5_Silent_p.S96S			Q9NVV5	AIG1_HUMAN	androgen-induced 1	148						integral component of membrane (GO:0016021)		p.S148S(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TGAGGACATCGCACCATCAGT	0.453													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17767	0.0		0.0	False		,,,				2504	0.0				p.S148S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G444A	6						.	G		7,4399	14.3+/-33.2	0,7,2196	141.0	113.0	122.0		444	-5.6	0.9	6	dbSNP_132	122	0,8600		0,0,4300	no	coding-synonymous	AIG1	NM_016108.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		148/239	143605291	7,12999	2203	4300	6503	143646984	SO:0001819	synonymous_variant	51390	exon4			AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.444G>A	6.37:g.143605291G>A			143646984	NM_016108	B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Silent	SNP	ENST00000275235.4	37																																																																																					0.453	AIG1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000042510.1	NM_016108	
FBXO30	84085	broad.mit.edu	37	6	146126320	146126320	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:146126320T>C	ENST00000237281.4	-	2	1388	c.1222A>G	c.(1222-1224)Aca>Gca	p.T408A		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	408	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T408A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AAATCTGATGTATCTACTGCT	0.403																																					p.T408A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1222G	6						.						190.0	197.0	195.0					6																	146126320		2203	4300	6503	146168013	SO:0001583	missense	84085	exon2			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1222A>G	6.37:g.146126320T>C	ENSP00000237281:p.Thr408Ala		146168013	NM_032145	Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.416271	0.62511	.	.	ENSG00000118496	ENST00000237281	T	0.49139	0.79	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64984	-0.6278	10	0.87932	D	0	-19.8223	15.8205	0.78638	0.0:0.0:0.0:1.0	.	408	Q8TB52	FBX30_HUMAN	A	408	ENSP00000237281:T408A	ENSP00000237281:T408A	T	-	1	0	FBXO30	146168013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.196000	0.70406	0.533000	0.62120	ACA		0.403	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2		
SHPRH	257218	broad.mit.edu	37	6	146264827	146264827	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:146264827A>G	ENST00000367505.2	-	9	1954	c.1690T>C	c.(1690-1692)Tat>Cat	p.Y564H	SHPRH_ENST00000275233.7_Missense_Mutation_p.Y564H|SHPRH_ENST00000367503.3_Missense_Mutation_p.Y564H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y564H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	564					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y564H(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAATAATAATAGTAAGGATCA	0.358																																					p.Y564H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1690C	6						.						138.0	129.0	132.0					6																	146264827		1840	4091	5931	146306520	SO:0001583	missense	257218	exon9			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1690T>C	6.37:g.146264827A>G	ENSP00000356475:p.Tyr564His		146306520	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716753	0.30413	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.73152	-0.72;-0.72;-0.71;-0.72	5.2	4.04	0.47022	DEAD-like helicase (1);	0.278989	0.25352	N	0.031290	T	0.35566	0.0936	L	0.38175	1.15	0.24527	N	0.994131	B;B;B;B	0.18013	0.005;0.003;0.002;0.025	B;B;B;B	0.14023	0.004;0.005;0.003;0.01	T	0.13737	-1.0498	10	0.22706	T	0.39	-10.4384	7.6895	0.28559	0.7881:0.0:0.2119:0.0	.	453;564;564;453	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	H	564;564;564;564;453	ENSP00000356475:Y564H;ENSP00000356473:Y564H;ENSP00000412797:Y564H;ENSP00000275233:Y564H	ENSP00000275233:Y564H	Y	-	1	0	SHPRH	146306520	0.986000	0.35501	0.995000	0.50966	0.951000	0.60555	2.147000	0.42226	1.089000	0.41292	0.528000	0.53228	TAT		0.358	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
GRM1	2911	broad.mit.edu	37	6	146480549	146480549	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:146480549G>A	ENST00000282753.1	+	2	1001	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	GRM1_ENST00000361719.2_Missense_Mutation_p.A256T|GRM1_ENST00000392299.2_Missense_Mutation_p.A256T|GRM1_ENST00000492807.2_Missense_Mutation_p.A256T|GRM1_ENST00000355289.4_Missense_Mutation_p.A256T|GRM1_ENST00000507907.1_Missense_Mutation_p.A256T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	256					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A256T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCTCTGTATCGCCCATTCTGA	0.527																																					p.A256T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G766A	6						.						105.0	97.0	99.0					6																	146480549		2203	4300	6503	146522242	SO:0001583	missense	2911	exon3			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.766G>A	6.37:g.146480549G>A	ENSP00000282753:p.Ala256Thr		146522242	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665336	0.96745	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	M	0.92555	3.32	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;0.999;1.0;1.0	D	0.95754	0.8794	10	0.87932	D	0	.	19.1244	0.93376	0.0:0.0:1.0:0.0	.	256;256;251;256	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	T	256	ENSP00000354896:A256T;ENSP00000376119:A256T;ENSP00000424095:A256T;ENSP00000282753:A256T;ENSP00000347437:A256T;ENSP00000425599:A256T	ENSP00000282753:A256T	A	+	1	0	GRM1	146522242	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.415000	0.97375	2.513000	0.84729	0.655000	0.94253	GCC		0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
STXBP5	134957	broad.mit.edu	37	6	147648354	147648354	+	Silent	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:147648354T>G	ENST00000321680.6	+	18	2022	c.2022T>G	c.(2020-2022)tcT>tcG	p.S674S	STXBP5_ENST00000179882.6_Silent_p.S345S|STXBP5_ENST00000367481.3_Silent_p.S674S|STXBP5_ENST00000367480.3_Silent_p.S674S	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	674					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.S674S(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TATATGGCTCTAATGATCCTT	0.433																																					p.S674S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2022G	6						.						125.0	118.0	120.0					6																	147648354		2203	4300	6503	147690047	SO:0001819	synonymous_variant	134957	exon18			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2022T>G	6.37:g.147648354T>G			147690047	NM_001127715	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	9.314	1.056329	0.19907	.	.	ENSG00000164506	ENST00000367475	.	.	.	6.07	-0.974	0.10293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1849	0.15178	0.279:0.4164:0.0:0.3046	.	.	.	.	E	16	.	.	X	+	1	0	STXBP5	147690047	0.075000	0.21258	0.994000	0.49952	0.752000	0.42762	-0.579000	0.05834	-0.106000	0.12110	-0.386000	0.06593	TAA		0.433	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
ULBP2	80328	broad.mit.edu	37	6	150267562	150267562	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:150267562G>A	ENST00000367351.3	+	3	477	c.404G>A	c.(403-405)aGc>aAc	p.S135N		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	135	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)	p.S135N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GAAGGACACAGCAGTGGATCT	0.502																																					p.S135N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404A	6						.						166.0	154.0	158.0					6																	150267562		2203	4300	6503	150309255	SO:0001583	missense	80328	exon3			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.404G>A	6.37:g.150267562G>A	ENSP00000356320:p.Ser135Asn		150309255	NM_025217	Q5VUN4	Missense_Mutation	SNP	ENST00000367351.3	37	CCDS5222.1	.	.	.	.	.	.	.	.	.	.	-	7.452	0.642883	0.14451	.	.	ENSG00000131015	ENST00000367351	T	0.62105	0.05	2.26	-4.52	0.03472	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.35189	0.0923	L	0.55481	1.735	0.09310	N	1	B;P	0.37731	0.254;0.607	B;B	0.42692	0.284;0.395	T	0.42749	-0.9433	9	0.52906	T	0.07	.	4.1735	0.10341	0.0:0.2226:0.365:0.4124	.	135;135	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	N	135	ENSP00000356320:S135N	ENSP00000356320:S135N	S	+	2	0	ULBP2	150309255	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.848000	0.01673	-0.904000	0.03876	0.184000	0.17185	AGC		0.502	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1		
CCDC170	80129	broad.mit.edu	37	6	151894318	151894318	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:151894318A>G	ENST00000239374.7	+	6	883	c.784A>G	c.(784-786)Agt>Ggt	p.S262G	CCDC170_ENST00000367290.5_Missense_Mutation_p.S262G	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	262								p.S262G(1)									GGACCTGCTCAGTGCTGTAGA	0.448																																					p.S262G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A784G	6						.						52.0	52.0	52.0					6																	151894318		1866	4110	5976	151936011	SO:0001583	missense	80129	exon6			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.784A>G	6.37:g.151894318A>G	ENSP00000239374:p.Ser262Gly		151936011	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750344	0.30955	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09445	2.98;2.98	5.35	2.87	0.33458	.	0.542979	0.23081	N	0.052152	T	0.02929	0.0087	L	0.43701	1.375	0.35030	D	0.758677	B	0.13145	0.007	B	0.11329	0.006	T	0.35400	-0.9790	10	0.24483	T	0.36	-0.0635	7.0783	0.25217	0.7768:0.1478:0.0754:0.0	.	262	Q8IYT3	CF097_HUMAN	G	262	ENSP00000239374:S262G;ENSP00000356259:S262G	ENSP00000239374:S262G	S	+	1	0	C6orf97	151936011	0.986000	0.35501	0.998000	0.56505	0.910000	0.53928	0.444000	0.21661	0.384000	0.24942	0.523000	0.50628	AGT		0.448	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
SYNJ2	8871	broad.mit.edu	37	6	158497751	158497751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:158497751C>T	ENST00000355585.4	+	17	2461	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R796C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R796C|SYNJ2_ENST00000367112.1_5'Flank	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	796					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.R796C(1)		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)		CGACAAATGCCGCACCCCCGC	0.542																																					p.R796C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2386T	6						.						54.0	53.0	53.0					6																	158497751		2203	4300	6503	158417739	SO:0001583	missense	8871	exon17			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.2386C>T	6.37:g.158497751C>T	ENSP00000347792:p.Arg796Cys		158417739	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329631	0.81690	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.97831	-4.56;-4.56;-4.56	5.31	4.43	0.53597	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.50627	D	0.000105	D	0.99152	0.9707	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98813	1.0744	10	0.87932	D	0	.	13.3889	0.60811	0.3449:0.6551:0.0:0.0	.	796;796	O15056;O15056-3	SYNJ2_HUMAN;.	C	796	ENSP00000356089:R796C;ENSP00000356088:R796C;ENSP00000347792:R796C	ENSP00000347792:R796C	R	+	1	0	SYNJ2	158417739	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.886000	0.56190	2.498000	0.84270	0.650000	0.86243	CGC		0.542	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
C6orf118	168090	broad.mit.edu	37	6	165715722	165715722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:165715722C>T	ENST00000230301.8	-	2	109	c.89G>A	c.(88-90)tGc>tAc	p.C30Y	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	30								p.C30Y(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGGCGTCTCGCAGTGCTTCAG	0.522																																					p.C30Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G89A	6						.						66.0	71.0	69.0					6																	165715722		2203	4300	6503	165635712	SO:0001583	missense	168090	exon2				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.89G>A	6.37:g.165715722C>T	ENSP00000230301:p.Cys30Tyr		165635712	NM_144980	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	8.174	0.792390	0.16258	.	.	ENSG00000112539	ENST00000230301	T	0.12984	2.63	0.454	0.454	0.16644	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	0.999999	D	0.71674	0.998	D	0.70935	0.971	T	0.33189	-0.9878	8	0.10902	T	0.67	.	.	.	.	.	30	Q5T5N4	CF118_HUMAN	Y	30	ENSP00000230301:C30Y	ENSP00000230301:C30Y	C	-	2	0	C6orf118	165635712	0.248000	0.23930	0.027000	0.17364	0.139000	0.21198	0.550000	0.23345	0.537000	0.28751	0.374000	0.22700	TGC		0.522	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
TTLL2	83887	broad.mit.edu	37	6	167753632	167753632	+	Missense_Mutation	SNP	G	G	A	rs141328881	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:167753632G>A	ENST00000239587.5	+	3	332	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	82					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.A82T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCTTCAGGGGCCCTCTTGAA	0.483																																					p.A82T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	6						.						51.0	54.0	53.0					6																	167753632		2203	4300	6503	167673622	SO:0001583	missense	83887	exon3			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.244G>A	6.37:g.167753632G>A	ENSP00000239587:p.Ala82Thr		167673622	NM_031949	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914662	0.17907	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02472	4.28	3.26	1.34	0.21922	.	0.969624	0.08489	N	0.938296	T	0.00666	0.0022	L	0.29908	0.895	0.09310	N	1	B	0.33073	0.396	B	0.23852	0.049	T	0.43637	-0.9379	10	0.11794	T	0.64	.	10.2325	0.43264	0.0:0.3924:0.6076:0.0	.	82	Q9BWV7	TTLL2_HUMAN	T	82;9	ENSP00000239587:A82T	ENSP00000239587:A82T	A	+	1	0	TTLL2	167673622	0.001000	0.12720	0.075000	0.20258	0.089000	0.18198	0.566000	0.23593	0.185000	0.20105	0.484000	0.47621	GCC		0.483	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	
SERPINB6	5269	broad.mit.edu	37	6	2948552	2948552	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:2948552C>T	ENST00000380520.1	-	6	3105	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S	SERPINB6_ENST00000380529.1_Missense_Mutation_p.G371S|SERPINB6_ENST00000380539.1_Missense_Mutation_p.G371S|SERPINB6_ENST00000380524.1_Missense_Mutation_p.G371S|SERPINB6_ENST00000335686.5_Missense_Mutation_p.G371S|SERPINB6_ENST00000380546.3_Missense_Mutation_p.G371S			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	371					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G371S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GAAAAGCGGCCGCAGAAGAGA	0.597																																					p.G371S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1111A	6						.						52.0	55.0	54.0					6																	2948552		2203	4300	6503	2893551	SO:0001583	missense	5269	exon8			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.1111G>A	6.37:g.2948552C>T	ENSP00000369891:p.Gly371Ser		2893551	NM_001195291	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421176	0.83559	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546;ENST00000440670	D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.01	5.01	0.66863	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99081	1.0837	10	0.87932	D	0	.	17.8212	0.88651	0.0:1.0:0.0:0.0	.	371	P35237	SPB6_HUMAN	S	371;371;371;371;371;371;187	ENSP00000369896:G371S;ENSP00000369891:G371S;ENSP00000338358:G371S;ENSP00000369901:G371S;ENSP00000369912:G371S;ENSP00000369919:G371S	ENSP00000338358:G371S	G	-	1	0	SERPINB6	2893551	1.000000	0.71417	0.979000	0.43373	0.209000	0.24338	7.571000	0.82399	2.715000	0.92844	0.551000	0.68910	GGC		0.597	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1		
RPP40	10799	broad.mit.edu	37	6	4996273	4996273	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:4996273G>A	ENST00000380051.2	-	7	849	c.805C>T	c.(805-807)Cca>Tca	p.P269S	RPP40_ENST00000464646.1_Missense_Mutation_p.P209S|RPP40_ENST00000319533.5_Missense_Mutation_p.P246S	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	269					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)	ribonuclease P activity (GO:0004526)	p.P269S(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACTGTGCTTGGCTCAGGACAG	0.383																																					p.P269S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805T	6						.						90.0	91.0	90.0					6																	4996273		2203	4300	6503	4941272	SO:0001583	missense	10799	exon7			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.805C>T	6.37:g.4996273G>A	ENSP00000369391:p.Pro269Ser		4941272	NM_006638	Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465488	0.84425	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.44083	0.93;0.93;0.93	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63932	-0.6525	10	0.37606	T	0.19	-6.2722	17.627	0.88096	0.0:0.0:1.0:0.0	.	246;269	O75818-2;O75818	.;RPP40_HUMAN	S	269;246;209	ENSP00000369391:P269S;ENSP00000317998:P246S;ENSP00000419431:P209S	ENSP00000317998:P246S	P	-	1	0	RPP40	4941272	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.629000	0.83207	2.391000	0.81399	0.655000	0.94253	CCA		0.383	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638	
F13A1	2162	broad.mit.edu	37	6	6225086	6225086	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:6225086G>A	ENST00000264870.3	-	7	1071	c.806C>T	c.(805-807)gCc>gTc	p.A269V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	269					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A269V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTCATCTTTGGCATTCACCTA	0.498																																					p.A269V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C806T	6						.						89.0	76.0	80.0					6																	6225086		2203	4300	6503	6170085	SO:0001583	missense	2162	exon7			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.806C>T	6.37:g.6225086G>A	ENSP00000264870:p.Ala269Val		6170085	NM_000129	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337817	0.81911	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.88975	-2.45	5.51	5.51	0.81932	.	0.122378	0.56097	D	0.000028	D	0.86356	0.5913	L	0.56124	1.755	0.47276	D	0.999373	P;P	0.50943	0.825;0.94	P;B	0.45232	0.474;0.16	D	0.88379	0.3000	10	0.72032	D	0.01	.	18.4123	0.90555	0.0:0.0:1.0:0.0	.	206;269	F5H080;P00488	.;F13A_HUMAN	V	269;206	ENSP00000264870:A269V	ENSP00000264870:A269V	A	-	2	0	F13A1	6170085	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.306000	0.78905	2.577000	0.86979	0.563000	0.77884	GCC		0.498	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
BMP6	654	broad.mit.edu	37	6	7880570	7880570	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:7880570C>T	ENST00000283147.6	+	7	1695	c.1536C>T	c.(1534-1536)tgC>tgT	p.C512C		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	512					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.C512C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CTTGTGGATGCCACTAACTCG	0.438																																					p.C512C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1536T	6						.						127.0	133.0	131.0					6																	7880570		2203	4300	6503	7825569	SO:0001819	synonymous_variant	654	exon7			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1536C>T	6.37:g.7880570C>T			7825569	NM_001718	Q5TCP3	Silent	SNP	ENST00000283147.6	37	CCDS4503.1																																																																																				0.438	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
NUP153	9972	broad.mit.edu	37	6	17669527	17669527	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:17669527A>T	ENST00000262077.2	-	7	1010	c.1011T>A	c.(1009-1011)aaT>aaA	p.N337K	NUP153_ENST00000537253.1_Missense_Mutation_p.N337K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	337					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)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.N337K(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AACTTACAGAATTCAGAGGAG	0.333																																					p.N337K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1011A	6						.						49.0	54.0	52.0					6																	17669527		2201	4297	6498	17777506	SO:0001583	missense	9972	exon7			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1011T>A	6.37:g.17669527A>T	ENSP00000262077:p.Asn337Lys		17777506	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732786	0.48939	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31510	1.49;1.49	5.55	4.39	0.52855	Nucleoporin, Nup153-like (1);	0.398482	0.21095	N	0.080242	T	0.11537	0.0281	L	0.40543	1.245	0.32728	N	0.5094	P;B;B	0.43352	0.804;0.279;0.356	B;B;B	0.39706	0.307;0.076;0.076	T	0.07947	-1.0746	10	0.52906	T	0.07	-12.0381	7.1227	0.25454	0.7977:0.0:0.0714:0.1309	.	337;359;337	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	K	337;359;337	ENSP00000262077:N337K;ENSP00000444029:N337K	ENSP00000262077:N337K	N	-	3	2	NUP153	17777506	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.714000	0.54889	0.949000	0.37715	0.460000	0.39030	AAT		0.333	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
KIF13A	63971	broad.mit.edu	37	6	17785842	17785842	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:17785842G>A	ENST00000259711.6	-	28	3497	c.3392C>T	c.(3391-3393)gCc>gTc	p.A1131V	KIF13A_ENST00000378816.5_Missense_Mutation_p.A1131V|KIF13A_ENST00000378826.2_Missense_Mutation_p.A1131V|KIF13A_ENST00000378843.2_Missense_Mutation_p.A1118V|KIF13A_ENST00000378814.5_Missense_Mutation_p.A1118V	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1131					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1131V(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CACAAGCTGGGCTTCCCGCTC	0.522																																					p.A1131V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3392T	6						.						63.0	67.0	66.0					6																	17785842		1969	4146	6115	17893821	SO:0001583	missense	63971	exon28			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3392C>T	6.37:g.17785842G>A	ENSP00000259711:p.Ala1131Val		17893821	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.761895|5.761895	0.96906|0.96906	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.72725|.	-0.67;1.74;-0.68;-0.66;-0.67;-0.66|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68696|0.68696	0.3029|0.3029	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.76494|.	0.864;0.999;0.786;0.998|.	P;D;P;D|.	0.68483|.	0.563;0.956;0.459;0.958|.	T|T	0.64753|0.64753	-0.6333|-0.6333	10|5	0.54805|.	T|.	0.06|.	.|.	19.6539|19.6539	0.95828|0.95828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1118;1131;1131;1118|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	V|S	1118;135;1131;1131;1118;1131;129|525	ENSP00000368091:A1118V;ENSP00000425616:A135V;ENSP00000259711:A1131V;ENSP00000368103:A1131V;ENSP00000368120:A1118V;ENSP00000368093:A1131V|.	ENSP00000259711:A1131V|.	A|P	-|-	2|1	0|0	KIF13A|KIF13A	17893821|17893821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.748000|9.748000	0.98867|0.98867	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	GCC|CCC		0.522	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
MRS2	57380	broad.mit.edu	37	6	24423827	24423827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:24423827delA	ENST00000378386.3	+	11	1330	c.1237delA	c.(1237-1239)aaafs	p.K414fs	MRS2_ENST00000543597.1_Frame_Shift_Del_p.K123fs|MRS2_ENST00000535061.1_Frame_Shift_Del_p.K364fs|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Frame_Shift_Del_p.K417fs	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	414						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)	p.K414fs*11(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTCTTTACCTAAAAAGACTCT	0.348																																					p.K413fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1237delA	6						.						53.0	56.0	55.0					6																	24423827		2203	4300	6503	24531806	SO:0001589	frameshift_variant	57380	exon11			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1237delA	6.37:g.24423827delA	ENSP00000367637:p.Lys414fs		24531806	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Frame_Shift_Del	DEL	ENST00000378386.3	37	CCDS4552.1																																																																																				0.348	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1		
SLC17A1	6568	broad.mit.edu	37	6	25826787	25826787	+	Missense_Mutation	SNP	G	G	A	rs144651108		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:25826787G>A	ENST00000244527.4	-	3	224	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	SLC17A1_ENST00000427328.1_Missense_Mutation_p.R37C|SLC17A1_ENST00000468082.1_Missense_Mutation_p.R37C|SLC17A1_ENST00000476801.1_Missense_Mutation_p.R37C	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	37				RA -> LM (in Ref. 9; BAA05888). {ECO:0000305}.	ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.R37C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGGCACGCACGCTGTGCTGTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		16438	0.0		0.001	False		,,,				2504	0.0				p.R37C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109T	6						.						163.0	138.0	147.0					6																	25826787		2203	4300	6503	25934766	SO:0001583	missense	6568	exon3				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.109C>T	6.37:g.25826787G>A	ENSP00000244527:p.Arg37Cys		25934766	NM_005074	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.58	2.279804	0.40294	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	3.29	-1.04	0.10068	Major facilitator superfamily domain, general substrate transporter (1);	1.047830	0.07638	N	0.929818	T	0.68421	0.2999	M	0.92026	3.265	0.09310	N	0.999996	D;D	0.76494	0.999;0.999	D;D	0.67725	0.921;0.953	T	0.59204	-0.7498	10	0.87932	D	0	.	10.216	0.43168	0.0:0.0:0.3048:0.6952	.	37;37	Q14916-2;Q14916	.;NPT1_HUMAN	C	37	ENSP00000244527:R37C;ENSP00000410549:R37C;ENSP00000420614:R37C;ENSP00000420546:R37C	ENSP00000244527:R37C	R	-	1	0	SLC17A1	25934766	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.018000	0.13422	-0.239000	0.09710	0.655000	0.94253	CGT		0.428	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		
SLC17A2	10246	broad.mit.edu	37	6	25917013	25917013	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:25917013G>A	ENST00000265425.3	-	7	850	c.830C>T	c.(829-831)gCc>gTc	p.A277V	SLC17A2_ENST00000360488.3_Missense_Mutation_p.A277V|SLC17A2_ENST00000377850.3_Missense_Mutation_p.A277V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	277					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.A277V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CAGGAAAATGGCCCAAAGTGG	0.453																																					p.A277V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C830T	6						.						118.0	107.0	111.0					6																	25917013		2203	4300	6503	26024992	SO:0001583	missense	10246	exon8			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.830C>T	6.37:g.25917013G>A	ENSP00000265425:p.Ala277Val		26024992	NM_005835	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.699339	0.88830	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.58506	0.33;0.33;0.33	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000042	T	0.62196	0.2408	L	0.57536	1.79	0.49915	D	0.999838	D;D;D	0.61697	0.99;0.986;0.959	P;P;P	0.61328	0.817;0.887;0.749	T	0.66280	-0.5963	10	0.87932	D	0	.	13.2415	0.59999	0.0:0.0:1.0:0.0	.	277;277;277	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	V	277	ENSP00000353677:A277V;ENSP00000367081:A277V;ENSP00000265425:A277V	ENSP00000265425:A277V	A	-	2	0	SLC17A2	26024992	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.841000	0.55850	2.557000	0.86248	0.563000	0.77884	GCC		0.453	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
BTN2A3P	54718	broad.mit.edu	37	6	26431185	26431185	+	RNA	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:26431185T>G	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.V368G(1)									GAGTGGACTGTGGGGATCTGT	0.493																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						167.0	165.0	166.0					6																	26431185		2203	4300	6503	26539164			54718	.			AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431185T>G			26539164	.	A6NEF4	Missense_Mutation	SNP	ENST00000466808.2	37																																																																																					0.493	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795	
BTN1A1	696	broad.mit.edu	37	6	26508906	26508906	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:26508906T>C	ENST00000244513.6	+	7	1151	c.1085T>C	c.(1084-1086)gTg>gCg	p.V362A		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.V362A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TACTGGGAGGTGGAGGTGGGA	0.532																																					p.V362A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1085C	6						.						152.0	137.0	142.0					6																	26508906		2203	4300	6503	26616885	SO:0001583	missense	696	exon7			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1085T>C	6.37:g.26508906T>C	ENSP00000244513:p.Val362Ala		26616885	NM_001732	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204860	0.79127	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.75938	-0.98	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000092	D	0.86314	0.5903	M	0.91354	3.2	0.50813	D	0.999893	D	0.76494	0.999	D	0.78314	0.991	D	0.89490	0.3756	10	0.87932	D	0	.	13.4606	0.61225	0.0:0.0:0.0:1.0	.	362	Q13410	BT1A1_HUMAN	A	362	ENSP00000244513:V362A	ENSP00000244513:V362A	V	+	2	0	BTN1A1	26616885	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.937000	0.87672	2.121000	0.65114	0.533000	0.62120	GTG		0.532	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
HIST1H4L	8368	broad.mit.edu	37	6	27841202	27841202	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:27841202G>A	ENST00000355981.2	-	1	87	c.87C>T	c.(85-87)ggC>ggT	p.G29G	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	29					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)	p.G29G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						GCTTGGTGATGCCCTGAATGT	0.577																																					p.G29G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C87T	6						.						74.0	64.0	67.0					6																	27841202		2203	4300	6503	27949181	SO:0001819	synonymous_variant	8368	exon1			X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.87C>T	6.37:g.27841202G>A			27949181	NM_003546	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000355981.2	37	CCDS4637.1																																																																																				0.577	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546	
OR2B2	81697	broad.mit.edu	37	6	27879508	27879508	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:27879508G>A	ENST00000303324.2	-	1	666	c.590C>T	c.(589-591)gCt>gTt	p.A197V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A197V(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GAATAGTTCAGCCTCATTTGC	0.433																																					p.A197V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C590T	6						.						114.0	105.0	108.0					6																	27879508		2203	4300	6503	27987487	SO:0001583	missense	81697	exon1			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.590C>T	6.37:g.27879508G>A	ENSP00000304419:p.Ala197Val		27987487	NM_033057	B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445948	0.43429	.	.	ENSG00000168131	ENST00000303324	T	0.00048	8.82	4.32	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001519	T	0.00039	0.0001	N	0.05158	-0.105	0.21802	N	0.99953	P	0.46020	0.871	P	0.52343	0.696	T	0.00137	-1.2004	10	0.25106	T	0.35	.	6.0105	0.19573	0.1025:0.0:0.7107:0.1868	.	197	Q9GZK3	OR2B2_HUMAN	V	197	ENSP00000304419:A197V	ENSP00000304419:A197V	A	-	2	0	OR2B2	27987487	0.000000	0.05858	0.905000	0.35620	0.754000	0.42855	0.159000	0.16442	1.098000	0.41479	0.563000	0.77884	GCT		0.433	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
MOG	4340	broad.mit.edu	37	6	29641359	29641359	+	IGR	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:29641359delA	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Frame_Shift_Del_p.C157fs|ZFP57_ENST00000376881.3_Frame_Shift_Del_p.C157fs|ZFP57_ENST00000488757.1_Frame_Shift_Del_p.C177fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C157fs*25(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CAGGTGTAGCAAAAAAAGGGT	0.572																																					p.C177fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.529delT	6						.						69.0	78.0	76.0					6																	29641359		1191	2507	3698	29749338	SO:0001628	intergenic_variant	346171	exon4				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641359delA			29749338	NM_001109809	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Del	DEL	ENST00000376917.3	37	CCDS34370.1																																																																																				0.572	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
HLA-G	3135	broad.mit.edu	37	6	29797607	29797607	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:29797607C>T	ENST00000360323.6	+	5	934	c.910C>T	c.(910-912)Ccc>Tcc	p.P304S	HLA-G_ENST00000376815.3_Missense_Mutation_p.P120S|HLA-G_ENST00000376818.3_Missense_Mutation_p.P212S|HLA-G_ENST00000376828.2_Missense_Mutation_p.P309S|HLA-G_ENST00000428701.1_Missense_Mutation_p.P304S			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	304	Connecting peptide.				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-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.P304S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GTCTTCCCTGCCCACCATCCC	0.582																																					p.P304S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C910T	6						.						101.0	85.0	90.0					6																	29797607		2203	4300	6503	29905586	SO:0001583	missense	3135	exon6				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.910C>T	6.37:g.29797607C>T	ENSP00000353472:p.Pro304Ser		29905586	NM_002127		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	6.981	0.551130	0.13374	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00745	6.04;6.03;6.03;5.75;5.87	2.23	-4.45	0.03546	Immunoglobulin-like fold (1);	0.660315	0.12165	U	0.493567	T	0.00178	0.0005	N	0.13371	0.34	0.09310	N	1	B;B;B;P	0.45011	0.001;0.001;0.0;0.848	B;B;B;P	0.46208	0.001;0.003;0.0;0.507	T	0.28744	-1.0034	10	0.02654	T	1	.	8.8702	0.35311	0.0:0.6579:0.0:0.3421	.	120;309;212;304	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	S	309;304;304;212;120	ENSP00000366024:P309S;ENSP00000412927:P304S;ENSP00000353472:P304S;ENSP00000366014:P212S;ENSP00000366011:P120S	ENSP00000353472:P304S	P	+	1	0	HLA-G	29905586	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.618000	0.00413	-1.625000	0.01554	-1.320000	0.01293	CCC		0.582	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	
TRIM15	89870	broad.mit.edu	37	6	30138339	30138339	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:30138339C>T	ENST00000376694.4	+	5	1262	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	265					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R265C(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CAAGAAGATCCGTGATTTCCA	0.493																																					p.R265C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793T	6						.						112.0	110.0	110.0					6																	30138339		2203	4300	6503	30246318	SO:0001583	missense	89870	exon5			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.793C>T	6.37:g.30138339C>T	ENSP00000365884:p.Arg265Cys		30246318	NM_033229	A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723495	0.48728	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.56611	0.45	5.62	3.82	0.43975	.	0.000000	0.53938	D	0.000050	T	0.52075	0.1712	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.54892	-0.8225	10	0.51188	T	0.08	.	11.5478	0.50702	0.3233:0.6767:0.0:0.0	.	265	Q9C019	TRI15_HUMAN	C	196;265	ENSP00000365884:R265C	ENSP00000365884:R265C	R	+	1	0	TRIM15	30246318	0.002000	0.14202	0.793000	0.32043	0.811000	0.45836	0.450000	0.21762	0.696000	0.31696	0.579000	0.79373	CGT		0.493	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229	
GNL1	2794	broad.mit.edu	37	6	30520941	30520941	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:30520941C>T	ENST00000376621.3	-	7	1794	c.824G>A	c.(823-825)cGg>cAg	p.R275Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	275	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R275Q(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCCGCCTCCGACTCTTCTT	0.602																																					p.R275Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	6						.						91.0	95.0	93.0					6																	30520941		2203	4300	6503	30628920	SO:0001583	missense	2794	exon7				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.824G>A	6.37:g.30520941C>T	ENSP00000365806:p.Arg275Gln		30628920	NM_005275	B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137677	0.77775	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.48522	0.81	5.11	3.3	0.37823	.	0.168978	0.48286	D	0.000182	T	0.31702	0.0805	L	0.51914	1.62	0.40520	D	0.980823	D;P;D	0.69078	0.997;0.871;0.98	P;B;B	0.51415	0.669;0.109;0.278	T	0.10337	-1.0634	10	0.14252	T	0.57	-26.8611	10.3006	0.43650	0.0:0.8349:0.0:0.1651	.	273;137;275	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Q	275;97;137	ENSP00000365806:R275Q	ENSP00000365806:R275Q	R	-	2	0	GNL1	30628920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	1.299000	0.44798	0.655000	0.94253	CGG		0.602	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2		
C6orf136	221545	broad.mit.edu	37	6	30618853	30618853	+	Missense_Mutation	SNP	G	G	A	rs376377195		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:30618853G>A	ENST00000376473.5	+	3	716	c.557G>A	c.(556-558)cGt>cAt	p.R186H	AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Missense_Mutation_p.R367H|C6orf136_ENST00000528347.2_Missense_Mutation_p.R43H|C6orf136_ENST00000376471.4_Missense_Mutation_p.R52H	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	186						mitochondrion (GO:0005739)		p.R43H(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCAACATACGTACCAAGTGA	0.478																																					p.R367H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1100A	6						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	100.0	102.0		557,1100,155	5.4	0.8	6		102	0,8600		0,0,4300	no	missense,missense,missense	C6orf136	NM_001109938.2,NM_001161376.1,NM_145029.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	186/316,367/497,52/182	30618853	1,13005	2203	4300	6503	30726832	SO:0001583	missense	221545	exon3			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.557G>A	6.37:g.30618853G>A	ENSP00000365656:p.Arg186His		30726832	NM_001161376	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366789	0.41902	2.27E-4	0.0	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699	.	.	.	5.36	5.36	0.76844	.	0.131490	0.64402	D	0.000017	T	0.08088	0.0202	N	0.19112	0.55	0.27231	N	0.959392	B;P;P	0.50528	0.439;0.698;0.936	B;B;B	0.36335	0.041;0.097;0.222	T	0.10109	-1.0644	9	0.33141	T	0.24	-14.7599	12.6824	0.56928	0.0:0.1657:0.8342:0.0	.	52;367;186	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	H	367;186;52;304;43;8	.	ENSP00000293604:R367H	R	+	2	0	C6orf136	30726832	0.839000	0.29477	0.832000	0.32986	0.970000	0.65996	2.600000	0.46240	2.665000	0.90641	0.561000	0.74099	CGT		0.478	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029	
HLA-B	3106	broad.mit.edu	37	6	31324604	31324604	+	Frame_Shift_Del	DEL	T	T	-	rs9266179|rs200186034	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	-	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:31324604delT	ENST00000412585.2	-	2	232	c.204delA	c.(202-204)agafs	p.R68fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	68	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*8(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCGGCTCCTCTCTCGGACTCG	0.677									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.R68fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.204delA	6						.			1993,2105		740,513,796	33.0	33.0	33.0			-6.4	0.0	6	dbSNP_118	34	3347,4625		1272,803,1911	no	frameshift	HLA-B	NM_005514.6		2012,1316,2707	A1A1,A1R,RR		41.9844,48.6335,44.2419			31324604	5340,6730	2015	3950	5965	31432583	SO:0001589	frameshift_variant	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.204delA	6.37:g.31324604delT	ENSP00000399168:p.Arg68fs		31432583	NM_005514	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																				0.677	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
TNXB	7148	broad.mit.edu	37	6	32041548	32041548	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:32041548C>T	ENST00000375244.3	-	12	4758	c.4557G>A	c.(4555-4557)ccG>ccA	p.P1519P	TNXB_ENST00000375247.2_Silent_p.P1519P			P22105	TENX_HUMAN	tenascin XB	1606	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P1606P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCCGCCACCGGCACCACCT	0.577																																					p.P1519P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4557A	6						.						27.0	29.0	28.0					6																	32041548		1309	2586	3895	32149526	SO:0001819	synonymous_variant	7148	exon12			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4557G>A	6.37:g.32041548C>T			32149526	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.577	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
GRM4	2914	broad.mit.edu	37	6	34059847	34059847	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:34059847C>T	ENST00000538487.2	-	3	992	c.549G>A	c.(547-549)gcG>gcA	p.A183A	GRM4_ENST00000374177.3_Silent_p.A114A|GRM4_ENST00000374181.4_Silent_p.A183A|GRM4_ENST00000535756.1_Silent_p.A50A|GRM4_ENST00000609222.1_Silent_p.A50A|GRM4_ENST00000544773.2_Silent_p.A14A|GRM4_ENST00000455714.2_Silent_p.A43A	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	183					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A183A(2)|p.A114A(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCAGGTCTGGCGCTGTGGAGG	0.657																																					p.A183A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G549A	6						.						104.0	83.0	90.0					6																	34059847		2203	4300	6503	34167825	SO:0001819	synonymous_variant	2914	exon2			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.549G>A	6.37:g.34059847C>T			34167825	NM_000841	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	CCDS4787.1																																																																																				0.657	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
TEAD3	7005	broad.mit.edu	37	6	35454306	35454306	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:35454306T>A	ENST00000402886.3	-	2	235	c.82A>T	c.(82-84)Agg>Tgg	p.R28W	TEAD3_ENST00000338863.7_Missense_Mutation_p.E45V			Q99594	TEAD3_HUMAN	TEA domain family member 3	88					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E61V(1)|p.E45V(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGCCAGGGCCTCCTGGAAGCT	0.721																																					p.E45V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A134T	6						.						40.0	50.0	47.0					6																	35454306		2193	4297	6490	35562284	SO:0001583	missense	7005	exon2			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.82A>T	6.37:g.35454306T>A	ENSP00000384577:p.Arg28Trp		35562284	NM_003214	O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	24.7|24.7	4.560753|4.560753	0.86335|0.86335	.|.	.|.	ENSG00000007866|ENSG00000007866	ENST00000338863;ENST00000373905|ENST00000402886	T|T	0.39056|0.57752	1.1|0.38	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72003|0.72003	0.3407|0.3407	H|H	0.94345|0.94345	3.525|3.525	0.38643|0.38643	D|D	0.951649|0.951649	D|D	0.76494|0.69078	0.999|0.997	D|P	0.81914|0.59595	0.995|0.86	T|T	0.82137|0.82137	-0.0606|-0.0606	10|9	0.87932|0.87932	D|D	0|0	-29.9584|-29.9584	14.5204|14.5204	0.67847|0.67847	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	61|28	Q7Z6V0|B5MCM0	.|.	V|W	45;61|28	ENSP00000345772:E45V|ENSP00000384577:R28W	ENSP00000345772:E45V|ENSP00000384577:R28W	E|R	-|-	2|1	0|2	TEAD3|TEAD3	35562284|35562284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.031000|8.031000	0.88826|0.88826	2.093000|2.093000	0.63338|0.63338	0.370000|0.370000	0.22315|0.22315	GAG|AGG		0.721	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2		
SRPK1	6732	broad.mit.edu	37	6	35837362	35837362	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:35837362T>C	ENST00000373825.2	-	11	1593	c.1308A>G	c.(1306-1308)tcA>tcG	p.S436S	SRPK1_ENST00000423325.2_Silent_p.S420S|SRPK1_ENST00000373822.1_Silent_p.S329S					SRSF protein kinase 1									p.S436S(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GTTCACTGAATGACTGACCTA	0.458																																					p.S436S	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1308G	6						.						228.0	211.0	216.0					6																	35837362		2014	4193	6207	35945340	SO:0001819	synonymous_variant	6732	exon11			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1308A>G	6.37:g.35837362T>C			35945340	NM_003137		Silent	SNP	ENST00000373825.2	37	CCDS47415.1																																																																																				0.458	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
BTBD9	114781	broad.mit.edu	37	6	38256201	38256201	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:38256201G>A	ENST00000481247.1	-	8	1452	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	BTBD9_ENST00000419706.2_Missense_Mutation_p.A404V|BTBD9_ENST00000403056.1_Missense_Mutation_p.A434V|BTBD9_ENST00000408958.1_Missense_Mutation_p.A366V|BTBD9_ENST00000314100.6_Missense_Mutation_p.A366V	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	434					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.A434V(1)|p.A366V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AATCACACTGGCACAATCAGC	0.438																																					p.A404V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1211T	6						.						100.0	102.0	101.0					6																	38256201		2189	4288	6477	38364179	SO:0001583	missense	114781	exon8				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1301C>T	6.37:g.38256201G>A	ENSP00000418751:p.Ala434Val		38364179	NM_001172418	Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	G	36	5.616301	0.96649	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;T;D;T;D	0.84070	-1.66;-1.42;-1.8;-1.42;-1.66	6.17	6.17	0.99709	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.994	D	0.93197	0.6588	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	404;434	Q494V9;Q96Q07	.;BTBD9_HUMAN	V	366;434;404;434;366	ENSP00000323408:A366V;ENSP00000418751:A434V;ENSP00000415365:A404V;ENSP00000386121:A434V;ENSP00000386211:A366V	ENSP00000323408:A366V	A	-	2	0	BTBD9	38364179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.323000	0.96364	2.941000	0.99782	0.655000	0.94253	GCC		0.438	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	
DNAH8	1769	broad.mit.edu	37	6	38729548	38729548	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:38729548A>G	ENST00000359357.3	+	9	1189	c.935A>G	c.(934-936)cAg>cGg	p.Q312R	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q312R|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q529R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	312					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q312R(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTATGGGATCAGGAAACGCCA	0.299																																					p.Q312R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A935G	6						.						84.0	88.0	87.0					6																	38729548		2203	4298	6501	38837526	SO:0001583	missense	1769	exon9			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.935A>G	6.37:g.38729548A>G	ENSP00000352312:p.Gln312Arg		38837526	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	11.59	1.684404	0.29872	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.56103	0.48;0.48;0.48	6.0	6.0	0.97389	Dynein heavy chain, domain-1 (1);	0.151869	0.46145	D	0.000308	T	0.39091	0.1065	L	0.55990	1.75	0.41910	D	0.990463	B	0.34181	0.44	B	0.40782	0.34	T	0.31586	-0.9938	10	0.20046	T	0.44	.	14.0315	0.64617	1.0:0.0:0.0:0.0	.	312	Q96JB1	DYH8_HUMAN	R	517;517;312;312	ENSP00000333363:Q517R;ENSP00000352312:Q312R;ENSP00000402294:Q312R	ENSP00000333363:Q517R	Q	+	2	0	DNAH8	38837526	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	6.926000	0.75835	2.297000	0.77311	0.519000	0.50382	CAG		0.299	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
LRFN2	57497	broad.mit.edu	37	6	40399510	40399510	+	Missense_Mutation	SNP	C	C	T	rs146724906	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:40399510C>T	ENST00000338305.6	-	2	1885	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	448	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R448Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATCTTCACCCGGGGTGCTGA	0.592																																					p.R448Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1343A	6						.	C	GLN/ARG	0,4406		0,0,2203	61.0	62.0	61.0		1343	5.5	0.8	6	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRFN2	NM_020737.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	448/790	40399510	1,13005	2203	4300	6503	40507488	SO:0001583	missense	57497	exon2			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1343G>A	6.37:g.40399510C>T	ENSP00000345985:p.Arg448Gln		40507488	NM_020737	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472525	0.43942	0.0	1.16E-4	ENSG00000156564	ENST00000338305	T	0.56275	0.47	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.059468	0.64402	D	0.000001	T	0.23965	0.0580	N	0.22421	0.69	0.40186	D	0.977342	P	0.43857	0.819	B	0.39771	0.309	T	0.05767	-1.0865	10	0.30854	T	0.27	.	11.464	0.50227	0.0:0.9173:0.0:0.0827	.	448	Q9ULH4	LRFN2_HUMAN	Q	448	ENSP00000345985:R448Q	ENSP00000345985:R448Q	R	-	2	0	LRFN2	40507488	0.996000	0.38824	0.835000	0.33067	0.998000	0.95712	2.665000	0.46791	2.594000	0.87642	0.655000	0.94253	CGG		0.592	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
GUCA1A	2978	broad.mit.edu	37	6	42147049	42147049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:42147049C>T	ENST00000394237.1	+	6	1490	c.514C>T	c.(514-516)Cga>Tga	p.R172*	GUCA1A_ENST00000541991.1_Nonsense_Mutation_p.R172*|GUCA1A_ENST00000372958.1_Nonsense_Mutation_p.R172*|GUCA1A_ENST00000053469.4_Nonsense_Mutation_p.R172*			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	172					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)	p.R172*(1)		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)			CACACTGACACGAAGCCTGGA	0.622																																					p.R172X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C514T	6						.						42.0	40.0	40.0					6																	42147049		2203	4300	6503	42255027	SO:0001587	stop_gained	2978	exon6				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.514C>T	6.37:g.42147049C>T	ENSP00000377784:p.Arg172*		42255027	NM_000409	B3KWT4|Q7Z6T1|Q9NU14	Nonsense_Mutation	SNP	ENST00000394237.1	37	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	C	37	6.579025	0.97680	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	.	.	.	4.34	2.49	0.30216	.	0.420838	0.27023	N	0.021304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	8.6888	0.34254	0.1718:0.6622:0.1659:0.0	.	.	.	.	X	172;176;172;172;172	.	ENSP00000053469:R172X	R	+	1	2	GUCA1A	42255027	0.970000	0.33590	0.092000	0.20876	0.932000	0.56968	2.389000	0.44407	0.274000	0.22072	0.561000	0.74099	CGA		0.622	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1		
UBR2	23304	broad.mit.edu	37	6	42658866	42658866	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:42658866G>T	ENST00000372899.1	+	47	5481	c.5223G>T	c.(5221-5223)caG>caT	p.Q1741H	UBR2_ENST00000372901.1_Missense_Mutation_p.Q1741H|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1741					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1741H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GACATGCACAGGAAGCCAATC	0.408																																					p.Q1741H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5223T	6						.						101.0	100.0	100.0					6																	42658866		2203	4300	6503	42766844	SO:0001583	missense	23304	exon47			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5223G>T	6.37:g.42658866G>T	ENSP00000361990:p.Gln1741His		42766844	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986925	0.74589	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.48836	0.8;0.8	6.06	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	L	0.38175	1.15	0.80722	D	1	D;D;B	0.89917	0.999;1.0;0.192	D;D;B	0.75484	0.986;0.986;0.043	T	0.23904	-1.0175	10	0.27082	T	0.32	-42.6557	6.1938	0.20538	0.3943:0.0:0.6057:0.0	.	329;1741;1741	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	H	1741	ENSP00000361990:Q1741H;ENSP00000361992:Q1741H	ENSP00000361990:Q1741H	Q	+	3	2	UBR2	42766844	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.883000	0.48554	1.574000	0.49760	0.650000	0.86243	CAG		0.408	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
CUL9	23113	broad.mit.edu	37	6	43154738	43154738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:43154738G>A	ENST00000252050.4	+	5	1376	c.1292G>A	c.(1291-1293)tGg>tAg	p.W431*	CUL9_ENST00000372647.2_Nonsense_Mutation_p.W431*|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	431					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.W431*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGGTGCACTGGCACATGCTG	0.577																																					p.W431X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1292A	6						.						75.0	73.0	74.0					6																	43154738		2203	4300	6503	43262716	SO:0001587	stop_gained	23113	exon5			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1292G>A	6.37:g.43154738G>A	ENSP00000252050:p.Trp431*		43262716	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	39	7.388184	0.98252	.	.	ENSG00000112659	ENST00000252050;ENST00000372647	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4092	18.5326	0.90997	0.0:0.0:1.0:0.0	.	.	.	.	X	431	.	ENSP00000252050:W431X	W	+	2	0	CUL9	43262716	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.380000	0.81148	0.467000	0.42956	TGG		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
TFAP2D	83741	broad.mit.edu	37	6	50683290	50683290	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:50683290C>T	ENST00000008391.3	+	2	729	c.501C>T	c.(499-501)agC>agT	p.S167S		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.S167S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGGGCCCAGCCTGGGGCTGG	0.632																																					p.S167S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	6						.						42.0	51.0	48.0					6																	50683290		2154	4214	6368	50791249	SO:0001819	synonymous_variant	83741	exon2			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.501C>T	6.37:g.50683290C>T			50791249	NM_172238		Silent	SNP	ENST00000008391.3	37	CCDS4933.1																																																																																				0.632	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
DST	667	broad.mit.edu	37	6	56346909	56346909	+	Missense_Mutation	SNP	C	C	T	rs576138885		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:56346909C>T	ENST00000361203.3	-	85	20517	c.20510G>A	c.(20509-20511)cGt>cAt	p.R6837H	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R4534H|DST_ENST00000370788.2_Missense_Mutation_p.R4751H|DST_ENST00000370754.5_Missense_Mutation_p.R7126H|DST_ENST00000421834.2_Missense_Mutation_p.R4860H|DST_ENST00000370769.4_Missense_Mutation_p.R6948H|DST_ENST00000446842.2_Missense_Mutation_p.R6622H			Q03001	DYST_HUMAN	dystonin	6838					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R4534H(1)|p.R6948H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCATGGAAACGCAGGGTTTG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		13878	0.0		0.0	False		,,,				2504	0.001				p.R4534H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G13601A	6						.						41.0	45.0	44.0					6																	56346909		1999	4165	6164	56454868	SO:0001583	missense	667	exon71			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20510G>A	6.37:g.56346909C>T	ENSP00000354508:p.Arg6837His		56454868	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	27.0	4.791642	0.90367	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000037	T	0.69495	0.3117	M	0.83603	2.65	0.34272	D	0.681157	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;0.999;0.999;0.99	T	0.69331	-0.5173	9	0.54805	T	0.06	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	4860;6948;7126;6946;4534	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	4534;7126;6948;4860;6622;4751;6837	ENSP00000244364:R4534H;ENSP00000359790:R7126H;ENSP00000359805:R6948H;ENSP00000400883:R4860H;ENSP00000393645:R6622H;ENSP00000359824:R4751H;ENSP00000354508:R6837H	ENSP00000244364:R4534H	R	-	2	0	DST	56454868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGT		0.473	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
LGSN	51557	broad.mit.edu	37	6	63990376	63990376	+	Silent	SNP	C	C	T	rs61758980		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:63990376C>T	ENST00000370657.4	-	4	1113	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	360					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.A360A(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAACAGAAGGCGCCATCAGGC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		20164	0.0		0.001	False		,,,				2504	0.0				p.A360A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1080A	6						.	C	,	0,4406		0,0,2203	125.0	124.0	125.0		,1080	-11.5	0.2	6	dbSNP_129	125	7,8593	5.7+/-21.5	0,7,4293	no	utr-3,coding-synonymous	LGSN	NM_001143940.1,NM_016571.2	,	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	,	,360/510	63990376	7,12999	2203	4300	6503	64048335	SO:0001819	synonymous_variant	51557	exon4			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1080G>A	6.37:g.63990376C>T			64048335	NM_016571	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	CCDS4964.1																																																																																				0.493	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
PHF3	23469	broad.mit.edu	37	6	64422997	64422997	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:64422997C>A	ENST00000262043.3	+	16	5853	c.5513C>A	c.(5512-5514)cCa>cAa	p.P1838Q	PHF3_ENST00000393387.1_Missense_Mutation_p.P1838Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1838	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P1838Q(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTGCCACCTCCATTACTTCCC	0.517																																					p.P1838Q	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5513A	6						.						141.0	148.0	145.0					6																	64422997		2203	4300	6503	64480956	SO:0001583	missense	23469	exon15			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5513C>A	6.37:g.64422997C>A	ENSP00000262043:p.Pro1838Gln		64480956	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258696	0.23051	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.47177	0.85;0.85	5.97	5.11	0.69529	.	0.000000	0.39274	N	0.001403	T	0.10680	0.0261	N	0.14661	0.345	0.28381	N	0.919524	B	0.31077	0.307	B	0.23716	0.048	T	0.07790	-1.0754	9	.	.	.	-3.4848	7.7705	0.29006	0.1327:0.7322:0.0:0.1352	.	1838	Q92576	PHF3_HUMAN	Q	1838	ENSP00000262043:P1838Q;ENSP00000377048:P1838Q	.	P	+	2	0	PHF3	64480956	0.973000	0.33851	0.820000	0.32676	0.998000	0.95712	2.487000	0.45268	1.539000	0.49286	0.655000	0.94253	CCA		0.517	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
LMBRD1	55788	broad.mit.edu	37	6	70408954	70408954	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:70408954C>A	ENST00000370577.3	-	13	1548	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S367I	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	440					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S440I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						GTAATTTTGGCTTCCATACAT	0.303																																					p.S440I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1319T	6						.						67.0	68.0	68.0					6																	70408954		2203	4300	6503	70465675	SO:0001583	missense	55788	exon13			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1319G>T	6.37:g.70408954C>A	ENSP00000359609:p.Ser440Ile		70465675	NM_018368	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427585	0.62733	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.19105	2.17;2.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.02431	-1.1160	10	0.31617	T	0.26	-9.9205	19.4477	0.94854	0.0:1.0:0.0:0.0	.	440	Q9NUN5	LMBD1_HUMAN	I	440;367	ENSP00000359609:S440I;ENSP00000359602:S367I	ENSP00000359602:S367I	S	-	2	0	LMBRD1	70465675	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	6.057000	0.71119	2.591000	0.87537	0.591000	0.81541	AGC		0.303	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
RIMS1	22999	broad.mit.edu	37	6	72945335	72945335	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:72945335G>C	ENST00000521978.1	+	8	1761	c.1761G>C	c.(1759-1761)tgG>tgC	p.W587C	RIMS1_ENST00000517827.1_Missense_Mutation_p.W46C|RIMS1_ENST00000522291.1_Missense_Mutation_p.W587C|RIMS1_ENST00000491071.2_Missense_Mutation_p.W587C|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.W587C|RIMS1_ENST00000517960.1_Missense_Mutation_p.W587C|RIMS1_ENST00000264839.7_Missense_Mutation_p.W587C|RIMS1_ENST00000520567.1_Missense_Mutation_p.W587C|RIMS1_ENST00000523963.1_Missense_Mutation_p.W61C|RIMS1_ENST00000518273.1_Missense_Mutation_p.W587C|RIMS1_ENST00000401910.3_Missense_Mutation_p.W61C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	587					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.W587C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTGTAACGTGGCAACCATCTA	0.368																																					p.W46C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138C	6						.						68.0	65.0	66.0					6																	72945335		1887	4113	6000	73002056	SO:0001583	missense	22999	exon3			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1761G>C	6.37:g.72945335G>C	ENSP00000428417:p.Trp587Cys		73002056	NM_001168410	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.463757|4.463757	0.84425|0.84425	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000517827	.|T;T;T;T;T;T;T;T;T;T;T	.|0.38722	.|1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.92|5.92	5.92|5.92	0.95590|0.95590	.|PDZ/DHR/GLGF (1);	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.61763|0.61763	0.2373|0.2373	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.971;1.0;1.0;1.0;1.0;1.0	.|D;P;D;D;D;D;D	.|0.91635	.|0.999;0.848;0.999;0.998;0.999;0.999;0.998	T|T	0.62923|0.62923	-0.6751|-0.6751	5|10	.|0.87932	.|D	.|0	-11.657|-11.657	20.3151|20.3151	0.98650|0.98650	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|46;61;587;46;61;587;587	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5	.|.;.;.;.;.;.;RIMS1_HUMAN	P|C	161|587;587;587;587;587;587;587;587;587;587;587;587;61;61;46	.|ENSP00000430101:W587C;ENSP00000275037:W587C;ENSP00000264839:W587C;ENSP00000429959:W587C;ENSP00000430408:W587C;ENSP00000430502:W587C;ENSP00000430932:W587C;ENSP00000428417:W587C;ENSP00000385649:W61C;ENSP00000428328:W61C;ENSP00000428367:W46C	.|ENSP00000264839:W587C	A|W	+|+	1|3	0|0	RIMS1|RIMS1	73002056|73002056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.869000|9.869000	0.99810|0.99810	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	GCA|TGG		0.368	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
LCA5	167691	broad.mit.edu	37	6	80201342	80201342	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:80201342T>C	ENST00000392959.1	-	7	1672	c.1061A>G	c.(1060-1062)tAc>tGc	p.Y354C	LCA5_ENST00000467898.3_Missense_Mutation_p.Y354C|LCA5_ENST00000369846.4_Missense_Mutation_p.Y354C	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	354					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.Y354C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTGTTTTCGTAACACATAAT	0.373																																					p.Y354C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1061G	6						.						208.0	194.0	198.0					6																	80201342		2203	4300	6503	80258061	SO:0001583	missense	167691	exon7				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1061A>G	6.37:g.80201342T>C	ENSP00000376686:p.Tyr354Cys		80258061	NM_181714	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295005	0.23564	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.32023	1.47;1.47	5.11	3.91	0.45181	.	0.782790	0.12140	N	0.495920	T	0.26738	0.0654	L	0.56769	1.78	0.31053	N	0.715036	D	0.65815	0.995	P	0.60415	0.874	T	0.13602	-1.0503	10	0.40728	T	0.16	-5.6496	4.4654	0.11687	0.1731:0.09:0.0:0.737	.	354	Q86VQ0	LCA5_HUMAN	C	354	ENSP00000358861:Y354C;ENSP00000376686:Y354C	ENSP00000358861:Y354C	Y	-	2	0	LCA5	80258061	0.995000	0.38212	0.986000	0.45419	0.078000	0.17371	0.386000	0.20702	1.030000	0.39839	0.482000	0.46254	TAC		0.373	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
TTK	7272	broad.mit.edu	37	6	80751910	80751910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:80751910delA	ENST00000369798.2	+	22	2676	c.2565delA	c.(2563-2565)ggafs	p.G855fs	TTK_ENST00000509894.1_Frame_Shift_Del_p.G854fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.G854fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	855					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.G839G(1)|p.K841fs?(1)|p.G855G(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAAAAAGGGGAAAAAAATGAT	0.308																																					p.G854fs												.	.	3	Substitution - coding silent(2)|Deletion - Frameshift(1)	kidney(2)|large_intestine(1)	c.2562delA	6						.						46.0	50.0	48.0					6																	80751910		2201	4284	6485	80808629	SO:0001589	frameshift_variant	7272	exon22				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2565delA	6.37:g.80751910delA	ENSP00000358813:p.Gly855fs		80808629	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	ENST00000369798.2	37	CCDS4993.1																																																																																				0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
ZNF292	23036	broad.mit.edu	37	6	87969944	87969944	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:87969944G>T	ENST00000369577.3	+	8	6640	c.6597G>T	c.(6595-6597)atG>atT	p.M2199I	ZNF292_ENST00000339907.4_Missense_Mutation_p.M2194I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2199						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.M2199I(1)|p.M2054I(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)		TTCATGAAATGACTCCTGAAG	0.353																																					p.M2199I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6597T	6						.						190.0	189.0	190.0					6																	87969944		1862	4099	5961	88026663	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.6597G>T	6.37:g.87969944G>T	ENSP00000358590:p.Met2199Ile		88026663	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261999	0.59431	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.40225	1.04;1.04;1.04	5.42	5.42	0.78866	Zinc finger, C2H2 (1);	0.086755	0.85682	D	0.000000	T	0.48169	0.1485	L	0.51422	1.61	0.34243	D	0.677813	D	0.54964	0.969	D	0.63381	0.914	T	0.37079	-0.9721	10	0.31617	T	0.26	.	19.21	0.93749	0.0:0.0:1.0:0.0	.	2199	O60281	ZN292_HUMAN	I	2199;2194;117	ENSP00000358590:M2199I;ENSP00000342847:M2194I;ENSP00000428857:M117I	ENSP00000342847:M2194I	M	+	3	0	ZNF292	88026663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.745000	0.47459	2.541000	0.85698	0.591000	0.81541	ATG		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
EPHA7	2045	broad.mit.edu	37	6	94066573	94066573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:94066573C>A	ENST00000369303.4	-	5	1370	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	396	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E396*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAGTTATCCTCTAATCCAGTC	0.468																																					p.E396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1186T	6						.						141.0	122.0	128.0					6																	94066573		2203	4300	6503	94123294	SO:0001587	stop_gained	2045	exon5			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1186G>T	6.37:g.94066573C>A	ENSP00000358309:p.Glu396*		94123294	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Nonsense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	40	7.953537	0.98580	.	.	ENSG00000135333	ENST00000369303	.	.	.	5.85	5.85	0.93711	.	0.255261	0.40222	N	0.001147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	.	.	.	X	396	.	ENSP00000358309:E396X	E	-	1	0	EPHA7	94123294	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.827000	0.69300	2.772000	0.95346	0.650000	0.86243	GAG		0.468	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
GPR63	81491	broad.mit.edu	37	6	97247143	97247143	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:97247143C>T	ENST00000229955.3	-	2	810	c.465G>A	c.(463-465)agG>agA	p.R155R	GPR63_ENST00000417980.1_Silent_p.R155R	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.R155R(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TAGCAGATACCCTACAGAAGA	0.423																																					p.R155R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465A	6						.						72.0	74.0	73.0					6																	97247143		2203	4300	6503	97353864	SO:0001819	synonymous_variant	81491	exon3			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.465G>A	6.37:g.97247143C>T			97353864	NM_001143957	Q9UJH3	Silent	SNP	ENST00000229955.3	37	CCDS5036.1																																																																																				0.423	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2		
THEMIS	387357	broad.mit.edu	37	6	128134851	128134851	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:128134851delT	ENST00000368248.2	-	4	1083	c.935delA	c.(934-936)aagfs	p.K312fs	THEMIS_ENST00000368250.1_Frame_Shift_Del_p.K233fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.K277fs|THEMIS_ENST00000543064.1_Frame_Shift_Del_p.K312fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	312	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K312fs*8(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGCCTGGTACTTTTTGTGGAT	0.428																																					p.K312fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.935delA	6						.						103.0	108.0	106.0					6																	128134851		2203	4300	6503	128176544	SO:0001589	frameshift_variant	387357	exon4			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.935delA	6.37:g.128134851delT	ENSP00000357231:p.Lys312fs		128176544	NM_001010923	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Del	DEL	ENST00000368248.2	37	CCDS34534.1																																																																																				0.428	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)cccfs	p.P1114fs	SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.				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.P1113fs*5(1)		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)		CCCGCAGAGACCCCCCCCTCC	0.637																																					p.P1111fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3331delC	6						.						31.0	35.0	34.0					6																	158508009		2203	4300	6503	158427997	SO:0001589	frameshift_variant	8871	exon23			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.3331delC	6.37:g.158508009delC	ENSP00000347792:p.Pro1114fs		158427997	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	ENST00000355585.4	37	CCDS5254.1																																																																																				0.637	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
PNLDC1	154197	broad.mit.edu	37	6	160221785	160221785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:160221785delT	ENST00000610273.1	+	2	196	c.25delT	c.(25-27)tttfs	p.F10fs	PNLDC1_ENST00000392167.3_Intron|PNLDC1_ENST00000609334.1_Intron	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	10						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.F10fs*9(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGGACTGCTATTTTTTGCCTT	0.567																																					p.F9fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.25delT	6						.						195.0	187.0	190.0					6																	160221785		2203	4300	6503	160141775	SO:0001589	frameshift_variant	154197	exon2			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.25delT	6.37:g.160221785delT	ENSP00000476448:p.Phe10fs		160141775	NM_173516	Q5TAP7|Q8N7X5	Frame_Shift_Del	DEL	ENST00000610273.1	37	CCDS5271.1																																																																																				0.567	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
THBS2	7058	broad.mit.edu	37	6	169632192	169632192	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr6:169632192G>A	ENST00000366787.3	-	14	2283	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	678	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.C678C(2)		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)		TCTGGCACTCGCACTTGTACA	0.622																																					p.C678C	Esophageal Squamous(91;219 1934 18562 44706)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2034T	6						.						194.0	163.0	173.0					6																	169632192		2203	4300	6503	169374117	SO:0001819	synonymous_variant	7058	exon14				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.2034C>T	6.37:g.169632192G>A			169374117	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
GNA12	2768	broad.mit.edu	37	7	2773103	2773104	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:2773103_2773104insA	ENST00000275364.3	-	3	719_720	c.557_558insT	c.(556-558)ttgfs	p.L186fs	GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Frame_Shift_Ins_p.L38fs|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000407904.3_Frame_Shift_Ins_p.L127fs|GNA12_ENST00000407653.1_Frame_Shift_Ins_p.L110fs|AMZ1_ENST00000489665.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	186					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.L186fs*12(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CGATCCGGTCCAAGTTGTCCAG	0.54																																					p.L186fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.558_559insT	7						.																																			2739630	SO:0001589	frameshift_variant	2768	exon3			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.558dupT	7.37:g.2773105_2773105dupA	ENSP00000275364:p.Leu186fs		2739629	NM_007353	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Frame_Shift_Ins	INS	ENST00000275364.3	37	CCDS5335.1																																																																																				0.540	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353	
SRRT	51593	broad.mit.edu	37	7	100484966	100484966	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:100484966G>T	ENST00000347433.4	+	16	2159	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D	SRRT_ENST00000457580.2_Missense_Mutation_p.E667D|SRRT_ENST00000388793.4_Missense_Mutation_p.E666D|SRRT_ENST00000432932.1_Missense_Mutation_p.E666D			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	667					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E667D(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGACTTTTGAGGAGAAGCTCA	0.577																																					p.E666D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1998T	7						.						87.0	93.0	91.0					7																	100484966		2203	4300	6503	100322902	SO:0001583	missense	51593	exon16				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2001G>T	7.37:g.100484966G>T	ENSP00000314491:p.Glu667Asp		100322902	NM_001128852	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783458	0.49891	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	4.56	4.56	0.56223	Arsenite-resistance protein 2 (1);	0.051549	0.85682	D	0.000000	T	0.68220	0.2977	L	0.50333	1.59	0.58432	D	0.999996	D;D;D;D	0.63046	0.99;0.99;0.99;0.992	D;D;D;D	0.77004	0.971;0.98;0.98;0.989	T	0.63024	-0.6729	9	0.21014	T	0.42	.	14.8392	0.70212	0.0:0.0:1.0:0.0	.	666;666;667;667	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	D	667;666;32;666;667;297	.	ENSP00000344670:E32D	E	+	3	2	SRRT	100322902	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	3.531000	0.53546	2.350000	0.79820	0.297000	0.19635	GAG		0.577	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
MUC17	140453	broad.mit.edu	37	7	100696330	100696330	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:100696330T>C	ENST00000306151.4	+	10	13231	c.13167T>C	c.(13165-13167)agT>agC	p.S4389S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4389					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S4389S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCAGAAGAGTCTGGTGTACG	0.587																																					p.S4389S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T13167C	7						.						88.0	78.0	82.0					7																	100696330		2203	4300	6503	100483050	SO:0001819	synonymous_variant	140453	exon10			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13167T>C	7.37:g.100696330T>C			100483050	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.587	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
TRIM56	81844	broad.mit.edu	37	7	100732337	100732337	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:100732337C>T	ENST00000306085.6	+	3	2041	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	582					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R582C(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGCAGTGGCGCAGGGCCCT	0.706																																					p.R582C	Ovarian(89;1092 1379 22756 38989 39611)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1744T	7						.						49.0	56.0	54.0					7																	100732337		2098	4191	6289	100519057	SO:0001583	missense	81844	exon3			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1744C>T	7.37:g.100732337C>T	ENSP00000305161:p.Arg582Cys		100519057	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209715	0.39003	.	.	ENSG00000169871	ENST00000306085	T	0.31247	1.5	3.87	3.87	0.44632	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.37348	0.1000	N	0.19112	0.55	0.45676	D	0.99859	D	0.89917	1.0	D	0.78314	0.991	T	0.12502	-1.0545	9	0.48119	T	0.1	.	11.6696	0.51393	0.0:1.0:0.0:0.0	.	582	Q9BRZ2	TRI56_HUMAN	C	582	ENSP00000305161:R582C	ENSP00000305161:R582C	R	+	1	0	TRIM56	100519057	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	1.304000	0.33482	2.464000	0.83262	0.586000	0.80456	CGC		0.706	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961	
ATXN7L1	222255	broad.mit.edu	37	7	105401865	105401865	+	Intron	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:105401865C>T	ENST00000419735.3	-	3	401				ATXN7L1_ENST00000478915.1_Missense_Mutation_p.G83R|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.G134R	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1									p.G134R(1)		endometrium(1)|large_intestine(4)|lung(5)	10						CTCTCTGGTCCACTCCTGGAG	0.458																																					p.G134R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G400A	7						.						293.0	238.0	257.0					7																	105401865		2203	4300	6503	105189101	SO:0001627	intron_variant	222255	exon4			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.355+27184G>A	7.37:g.105401865C>T			105189101	NM_152749	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080422	0.55753	.	.	ENSG00000146776	ENST00000318724;ENST00000478915	.	.	.	5.04	2.18	0.27775	.	.	.	.	.	T	0.40398	0.1115	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20042	-1.0287	8	0.52906	T	0.07	.	5.2393	0.15464	0.0:0.6484:0.1681:0.1835	.	134	A4D0Q2	.	R	134;83	.	ENSP00000326344:G134R	G	-	1	0	ATXN7L1	105189101	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	1.214000	0.32419	0.371000	0.24564	0.650000	0.86243	GGA		0.458	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2		
PIK3CG	5294	broad.mit.edu	37	7	106509045	106509045	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:106509045G>A	ENST00000359195.3	+	2	1349	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E347K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E347K	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	347					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.E347K(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						CAAGGACCACGAGAGTGTGTT	0.597																																					p.E347K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1039A	7						.						115.0	101.0	106.0					7																	106509045		2203	4300	6503	106296281	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.1039G>A	7.37:g.106509045G>A	ENSP00000352121:p.Glu347Lys		106296281	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030341	0.54790	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69561	-0.41;-0.41;-0.41	5.73	5.73	0.89815	.	0.137002	0.64402	D	0.000004	T	0.64461	0.2600	M	0.62723	1.935	0.80722	D	1	D	0.56746	0.977	B	0.42555	0.391	T	0.63686	-0.6581	10	0.07990	T	0.79	-18.5448	19.9036	0.96999	0.0:0.0:1.0:0.0	.	347	P48736	PK3CG_HUMAN	K	347	ENSP00000392258:E347K;ENSP00000419260:E347K;ENSP00000352121:E347K	ENSP00000352121:E347K	E	+	1	0	PIK3CG	106296281	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	9.807000	0.99171	2.706000	0.92434	0.655000	0.94253	GAG		0.597	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
LAMB1	3912	broad.mit.edu	37	7	107626774	107626774	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:107626774G>A	ENST00000222399.6	-	6	688	c.458C>T	c.(457-459)tCg>tTg	p.S153L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S153L|LAMB1_ENST00000393561.1_Missense_Mutation_p.S177L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	153	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.S153L(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						AAAGTCGGACGATCGTTCTAT	0.428																																					p.S153L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C458T	7						.						80.0	80.0	80.0					7																	107626774		2203	4300	6503	107414010	SO:0001583	missense	3912	exon6			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.458C>T	7.37:g.107626774G>A	ENSP00000222399:p.Ser153Leu		107414010	NM_002291	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498723	0.96355	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.79940	-1.32;-1.32;-1.32	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.93390	0.7892	H	0.95043	3.615	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	0.94537	0.7741	9	0.87932	D	0	.	20.1916	0.98230	0.0:0.0:1.0:0.0	.	153;153;177	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	L	177;153;153	ENSP00000377191:S177L;ENSP00000222399:S153L;ENSP00000377190:S153L	ENSP00000222399:S153L	S	-	2	0	LAMB1	107414010	1.000000	0.71417	0.470000	0.27216	0.995000	0.86356	9.827000	0.99397	2.770000	0.95276	0.655000	0.94253	TCG		0.428	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
NRCAM	4897	broad.mit.edu	37	7	107800889	107800889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:107800889C>T	ENST00000425651.2	-	28	3514	c.3515G>A	c.(3514-3516)gGt>gAt	p.G1172D	NRCAM_ENST00000413765.2_Missense_Mutation_p.G1048D|NRCAM_ENST00000379028.3_Missense_Mutation_p.G1172D|NRCAM_ENST00000379024.4_Missense_Mutation_p.G1060D|NRCAM_ENST00000379022.4_Missense_Mutation_p.G1172D|NRCAM_ENST00000351718.4_Missense_Mutation_p.G1051D	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1172					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.G1051D(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACACATCAGACCAATGAACCA	0.433																																					p.G1172D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3515A	7						.						124.0	112.0	116.0					7																	107800889		2203	4299	6502	107588125	SO:0001583	missense	4897	exon28				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3515G>A	7.37:g.107800889C>T	ENSP00000401244:p.Gly1172Asp		107588125	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.506343|4.506343	0.85282|0.85282	.|.	.|.	ENSG00000091129|ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022|ENST00000445634	T;T;T;T;T;T|.	0.64803|.	0.06;0.16;-0.12;0.03;0.06;0.08|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86289|0.86289	0.5897|0.5897	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;1.0;1.0;0.999|.	D|D	0.88941|0.88941	0.3380|0.3380	10|5	0.72032|.	D|.	0.01|.	.|.	19.2864|19.2864	0.94072|0.94072	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1172;18;1048;1060;1051;1172|.	Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823|.	.;.;.;.;.;NRCAM_HUMAN|.	D|I	1172;1172;1048;1079;16;1051;1060;1172;1172|71	ENSP00000368314:G1172D;ENSP00000407858:G1048D;ENSP00000325269:G1051D;ENSP00000368310:G1060D;ENSP00000401244:G1172D;ENSP00000368308:G1172D|.	ENSP00000325269:G1051D|.	G|V	-|-	2|1	0|0	NRCAM|NRCAM	107588125|107588125	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.944000|0.944000	0.59088|0.59088	5.999000|5.999000	0.70665|0.70665	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
KCND2	3751	broad.mit.edu	37	7	119915629	119915629	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:119915629T>C	ENST00000331113.4	+	1	1908	c.943T>C	c.(943-945)Tac>Cac	p.Y315H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	315					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.Y315H(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CATCCTGGGGTACACACTGAA	0.517																																					p.Y315H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T943C	7						.						119.0	93.0	102.0					7																	119915629		2203	4300	6503	119702865	SO:0001583	missense	3751	exon1			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.943T>C	7.37:g.119915629T>C	ENSP00000333496:p.Tyr315His		119702865	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.443823	0.63067	.	.	ENSG00000184408	ENST00000331113	D	0.98419	-4.92	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.96549	0.8874	N	0.25825	0.765	0.58432	D	0.999998	B	0.33549	0.417	B	0.44224	0.444	D	0.95772	0.8809	9	.	.	.	.	15.7201	0.77700	0.0:0.0:0.0:1.0	.	315	Q9NZV8	KCND2_HUMAN	H	315	ENSP00000333496:Y315H	.	Y	+	1	0	KCND2	119702865	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	6.249000	0.72427	2.186000	0.69663	0.455000	0.32223	TAC		0.517	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
AASS	10157	broad.mit.edu	37	7	121755206	121755206	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:121755206C>T	ENST00000393376.1	-	8	1060	c.965G>A	c.(964-966)cGc>cAc	p.R322H	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R322H			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	322	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.R322H(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGCATCTTGGCGGGTTAGGAG	0.483																																					p.R322H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	7						.						129.0	122.0	124.0					7																	121755206		2203	4300	6503	121542442	SO:0001583	missense	10157	exon9			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.965G>A	7.37:g.121755206C>T	ENSP00000377040:p.Arg322His		121542442	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754351	0.89843	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.83673	-1.75;-1.75	5.68	5.68	0.88126	Alanine dehydrogenase/PNT, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.85637	0.1274	10	0.15066	T	0.55	-9.6744	19.8015	0.96509	0.0:1.0:0.0:0.0	.	322	Q9UDR5	AASS_HUMAN	H	322	ENSP00000377040:R322H;ENSP00000403768:R322H	ENSP00000351834:R322H	R	-	2	0	AASS	121542442	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	4.756000	0.62205	2.678000	0.91216	0.650000	0.86243	CGC		0.483	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
GCC1	79571	broad.mit.edu	37	7	127222950	127222950	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:127222950T>C	ENST00000321407.2	-	2	1870	c.1446A>G	c.(1444-1446)caA>caG	p.Q482Q	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	482					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.Q482Q(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAGCTCCTGTTGGTAATAGA	0.507																																					p.Q482Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1446G	7						.						107.0	101.0	103.0					7																	127222950		2203	4300	6503	127010186	SO:0001819	synonymous_variant	79571	exon2			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1446A>G	7.37:g.127222950T>C			127010186	NM_024523	Q9H6N7	Silent	SNP	ENST00000321407.2	37	CCDS5796.1																																																																																				0.507	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
PARP12	64761	broad.mit.edu	37	7	139756760	139756760	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:139756760A>G	ENST00000263549.3	-	3	1529	c.656T>C	c.(655-657)cTg>cCg	p.L219P		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	219						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.L219P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCTGCTCACCAGGTCTGAGCT	0.473																																					p.L219P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T656C	7						.						111.0	114.0	113.0					7																	139756760		2203	4300	6503	139403229	SO:0001583	missense	64761	exon3			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.656T>C	7.37:g.139756760A>G	ENSP00000263549:p.Leu219Pro		139403229	NM_022750	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843681	0.51164	.	.	ENSG00000059378	ENST00000263549;ENST00000489809	T;T	0.50277	1.51;0.75	5.61	4.45	0.53987	.	0.360929	0.28448	N	0.015306	T	0.59542	0.2201	M	0.61703	1.905	0.37433	D	0.914116	D	0.63046	0.992	P	0.59357	0.856	T	0.66602	-0.5882	10	0.52906	T	0.07	.	11.7106	0.51623	0.9296:0.0:0.0704:0.0	.	219	Q9H0J9	PAR12_HUMAN	P	219;11	ENSP00000263549:L219P;ENSP00000417606:L11P	ENSP00000263549:L219P	L	-	2	0	PARP12	139403229	0.559000	0.26562	0.966000	0.40874	0.970000	0.65996	2.677000	0.46892	2.138000	0.66242	0.445000	0.29226	CTG		0.473	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0 	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
OR2F2	135948	broad.mit.edu	37	7	143632825	143632825	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:143632825C>A	ENST00000408955.2	+	1	567	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P167H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTTCAGCTGCCCATGTGCACT	0.522																																					p.P167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500A	7						.						158.0	138.0	145.0					7																	143632825		2203	4300	6503	143263758	SO:0001583	missense	135948	exon1				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.500C>A	7.37:g.143632825C>A	ENSP00000386222:p.Pro167His		143263758	NM_001004685	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	C	9.845	1.192101	0.21954	.	.	ENSG00000221910	ENST00000408955	T	0.00207	8.55	3.49	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000091	T	0.00384	0.0012	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47195	-0.9136	10	0.87932	D	0	-44.5294	9.0181	0.36182	0.0:0.8868:0.0:0.1132	.	167	O95006	OR2F2_HUMAN	H	167	ENSP00000386222:P167H	ENSP00000386222:P167H	P	+	2	0	OR2F2	143263758	0.000000	0.05858	0.145000	0.22337	0.408000	0.30992	1.313000	0.33585	0.803000	0.34113	-0.333000	0.08304	CCC		0.522	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1		
ZNF425	155054	broad.mit.edu	37	7	148800956	148800956	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:148800956C>T	ENST00000378061.2	-	4	2139	c.2007G>A	c.(2005-2007)ccG>ccA	p.P669P		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	669					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P669P(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTCACACTCCGGACACTGGA	0.542																																					p.P669P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2007A	7						.						115.0	108.0	110.0					7																	148800956		2203	4300	6503	148431889	SO:0001819	synonymous_variant	155054	exon4			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2007G>A	7.37:g.148800956C>T			148431889	NM_001001661	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																				0.542	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
ZNF398	57541	broad.mit.edu	37	7	148875770	148875770	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:148875770T>C	ENST00000475153.1	+	6	1073	c.806T>C	c.(805-807)cTt>cCt	p.L269P	ZNF398_ENST00000420008.2_Missense_Mutation_p.L98P|ZNF398_ENST00000335901.4_Missense_Mutation_p.L98P|ZNF398_ENST00000426851.2_Missense_Mutation_p.L98P|ZNF398_ENST00000483892.1_Missense_Mutation_p.L98P|ZNF398_ENST00000540950.1_Missense_Mutation_p.L274P|ZNF398_ENST00000491174.1_Missense_Mutation_p.L98P			Q8TD17	ZN398_HUMAN	zinc finger protein 398	269					positive regulation of transcription, DNA-templated (GO:0045893)|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.L269P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCTGAAGGCCTTGCTAGATCC	0.468																																					p.L98P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T293C	7						.						177.0	173.0	174.0					7																	148875770		2203	4300	6503	148506703	SO:0001583	missense	57541	exon7			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.806T>C	7.37:g.148875770T>C	ENSP00000420418:p.Leu269Pro		148506703	NM_020781	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350966	0.41599	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.07216	3.21;3.21;3.35;3.21;3.21;3.36;3.21	5.15	5.15	0.70609	.	0.000000	0.45606	D	0.000343	T	0.18467	0.0443	L	0.43923	1.385	0.58432	D	0.999996	D;P	0.69078	0.997;0.473	D;B	0.71414	0.973;0.112	T	0.01290	-1.1394	10	0.32370	T	0.25	-14.3294	11.284	0.49212	0.0:0.0:0.0:1.0	.	274;269	B4DXA9;Q8TD17	.;ZN398_HUMAN	P	98;98;269;98;98;274;98	ENSP00000389972:L98P;ENSP00000416751:L98P;ENSP00000420418:L269P;ENSP00000418564:L98P;ENSP00000419391:L98P;ENSP00000439340:L274P;ENSP00000338984:L98P	ENSP00000338984:L98P	L	+	2	0	ZNF398	148506703	0.595000	0.26857	0.992000	0.48379	0.637000	0.38172	1.739000	0.38217	2.168000	0.68352	0.528000	0.53228	CTT		0.468	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2		
TTYH3	80727	broad.mit.edu	37	7	2689571	2689571	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:2689571C>T	ENST00000258796.7	+	7	1025	c.820C>T	c.(820-822)Cct>Tct	p.P274S	TTYH3_ENST00000403167.1_Missense_Mutation_p.P103S|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Missense_Mutation_p.P242S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	274					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.P274S(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGTGTGGACCCTGACGCCTA	0.637																																					p.P274S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820T	7						.						108.0	92.0	98.0					7																	2689571		2203	4300	6503	2656097	SO:0001583	missense	80727	exon7				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.820C>T	7.37:g.2689571C>T	ENSP00000258796:p.Pro274Ser		2656097	NM_025250	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763986	0.89932	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	T;T;T	0.38240	1.15;1.15;1.15	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.74315	-0.3705	10	0.66056	D	0.02	.	16.8891	0.86082	0.0:1.0:0.0:0.0	.	103;274	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	S	274;242;103	ENSP00000258796:P274S;ENSP00000385316:P242S;ENSP00000385015:P103S	ENSP00000258796:P274S	P	+	1	0	TTYH3	2656097	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.837000	0.75354	1.950000	0.56595	0.557000	0.71058	CCT		0.637	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523	
SDK1	221935	broad.mit.edu	37	7	4002385	4002385	+	Missense_Mutation	SNP	G	G	A	rs375595635		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:4002385G>A	ENST00000404826.2	+	9	1470	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	444	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R444H(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)		GGAGGCCTGCGCATCCAGAAG	0.592																																					p.R444H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1331A	7						.	G	HIS/ARG	0,4406		0,0,2203	50.0	44.0	46.0		1331	2.5	1.0	7		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	444/2214	4002385	1,13005	2203	4300	6503	3968911	SO:0001583	missense	221935	exon9			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.1331G>A	7.37:g.4002385G>A	ENSP00000385899:p.Arg444His		3968911	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610179	0.28712	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69040	-0.37;-0.37	5.34	2.47	0.30058	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260591	0.33217	N	0.005157	T	0.51058	0.1652	L	0.31926	0.97	0.24963	N	0.991715	B	0.18166	0.026	B	0.09377	0.004	T	0.42413	-0.9453	10	0.40728	T	0.16	.	9.158	0.37005	0.3009:0.0:0.6991:0.0	.	444	Q7Z5N4	SDK1_HUMAN	H	444	ENSP00000385899:R444H;ENSP00000374182:R444H	ENSP00000374182:R444H	R	+	2	0	SDK1	3968911	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.932000	0.40143	0.711000	0.32018	0.650000	0.86243	CGC		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SDK1	221935	broad.mit.edu	37	7	4008986	4008986	+	Silent	SNP	C	C	T	rs367922108		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:4008986C>T	ENST00000404826.2	+	11	1783	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A	SDK1_ENST00000389531.3_Silent_p.A548A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	548	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A548A(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)		TCCAGGATGCCGGCAACTACA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		15852	0.0		0.0	False		,,,				2504	0.001				p.A548A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1644T	7						.						141.0	147.0	145.0					7																	4008986		2203	4300	6503	3975512	SO:0001819	synonymous_variant	221935	exon11			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.1644C>T	7.37:g.4008986C>T			3975512	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:8198251delT	ENST00000402384.3	-	7	877	c.611delA	c.(610-612)aacfs	p.N204fs	ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs|ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.N204fs*5(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTGTCAAAGTTTTTTTTTGC	0.378																																					p.N204fs												.	.	3	Deletion - Frameshift(3)	large_intestine(3)	c.611delA	7						.						143.0	125.0	131.0					7																	8198251		2203	4300	6503	8164776	SO:0001589	frameshift_variant	3382	exon7				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.611delA	7.37:g.8198251delT	ENSP00000385570:p.Asn204fs		8164776	NM_004968	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Del	DEL	ENST00000402384.3	37	CCDS34602.1																																																																																				0.378	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968	
HDAC9	9734	broad.mit.edu	37	7	18869117	18869117	+	Silent	SNP	C	C	T	rs373546158		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:18869117C>T	ENST00000432645.2	+	18	2403	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	HDAC9_ENST00000401921.1_Silent_p.T760T|HDAC9_ENST00000441542.2_Silent_p.T804T|HDAC9_ENST00000406451.4_Silent_p.T801T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	801	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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 deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T804T(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGCAATTACCGCCAAATACT	0.353																																					p.T801T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2403T	7						.						102.0	96.0	98.0					7																	18869117		1830	4088	5918	18835642	SO:0001819	synonymous_variant	9734	exon19			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2403C>T	7.37:g.18869117C>T			18835642	NM_178423	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																				0.353	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
SP4	6671	broad.mit.edu	37	7	21521627	21521627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:21521627C>T	ENST00000222584.3	+	5	2211	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	665					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R665*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCATTTACGAGCACATCT	0.398																																					p.R665X												.	.	2	Substitution - Nonsense(2)	ovary(1)|large_intestine(1)	c.C1993T	7						.						150.0	145.0	147.0					7																	21521627		2203	4300	6503	21488152	SO:0001587	stop_gained	6671	exon5				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1993C>T	7.37:g.21521627C>T	ENSP00000222584:p.Arg665*		21488152	NM_003112	O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	41	9.151051	0.99082	.	.	ENSG00000105866	ENST00000222584	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	.	.	.	X	665	.	ENSP00000222584:R665X	R	+	1	2	SP4	21488152	0.997000	0.39634	0.994000	0.49952	0.980000	0.70556	1.498000	0.35660	2.779000	0.95612	0.591000	0.81541	CGA		0.398	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
CCDC129	223075	broad.mit.edu	37	7	31617657	31617657	+	Missense_Mutation	SNP	C	C	A	rs373138016		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:31617657C>A	ENST00000407970.3	+	8	817	c.779C>A	c.(778-780)gCt>gAt	p.A260D	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.A286D|CCDC129_ENST00000409210.1_Missense_Mutation_p.A168D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	260								p.A260D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTAAGGAGAGCTTCCAAACAG	0.458																																					p.A260D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C779A	7						.						65.0	63.0	64.0					7																	31617657		2203	4300	6503	31584182	SO:0001583	missense	223075	exon8			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.779C>A	7.37:g.31617657C>A	ENSP00000384416:p.Ala260Asp		31584182	NM_194300	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721873	0.48728	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.26373	1.99;1.96;1.74	5.91	4.1	0.47936	.	.	.	.	.	T	0.39036	0.1063	L	0.55481	1.735	0.35793	D	0.822517	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.62298	0.9;0.9;0.9	T	0.47699	-0.9097	8	.	.	.	-4.7623	9.3831	0.38327	0.0:0.767:0.1557:0.0772	.	286;270;260	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	D	260;286;270;168	ENSP00000384416:A260D;ENSP00000395835:A286D;ENSP00000387214:A168D	.	A	+	2	0	CCDC129	31584182	0.992000	0.36948	0.560000	0.28344	0.054000	0.15201	1.986000	0.40677	1.502000	0.48669	0.655000	0.94253	GCT		0.458	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
DPY19L2P1	554236	broad.mit.edu	37	7	35157381	35157381	+	IGR	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:35157381delA								DPY19L2P1 (10035 upstream) : TBX20 (84660 downstream)																							GTTTGTAGCTAAAACACACGA	0.239																																					.												.	.	0			.	7						.																																			35123906	SO:0001628	intergenic_variant	554236	.																															7.37:g.35157381delA			35123906	.		Frame_Shift_Del	DEL		37																																																																																				0	0.239								
EEPD1	80820	broad.mit.edu	37	7	36336700	36336700	+	Missense_Mutation	SNP	G	G	A	rs140394885		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:36336700G>A	ENST00000242108.4	+	7	2132	c.1414G>A	c.(1414-1416)Gcg>Acg	p.A472T	EEPD1_ENST00000534978.1_Missense_Mutation_p.A472T	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	472					DNA repair (GO:0006281)		DNA binding (GO:0003677)	p.A472T(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCTGATCCCCGCGCACACCTT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21007	0.0		0.0	False		,,,				2504	0.0				p.A472T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1414A	7						.	G	THR/ALA	0,4406		0,0,2203	143.0	136.0	139.0		1414	2.4	0.0	7	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EEPD1	NM_030636.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	472/570	36336700	1,13005	2203	4300	6503	36303225	SO:0001583	missense	80820	exon7			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1414G>A	7.37:g.36336700G>A	ENSP00000242108:p.Ala472Thr		36303225	NM_030636	Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443736	0.12164	0.0	1.16E-4	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95069	-3.6;-3.6	5.49	2.4	0.29515	Endonuclease/exonuclease/phosphatase (2);	0.323766	0.35235	N	0.003354	D	0.88149	0.6359	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.77432	-0.2590	10	0.46703	T	0.11	-4.5734	3.2687	0.06874	0.1502:0.2242:0.4977:0.1279	.	472	Q7L9B9	EEPD1_HUMAN	T	472	ENSP00000242108:A472T;ENSP00000442692:A472T	ENSP00000242108:A472T	A	+	1	0	EEPD1	36303225	0.556000	0.26538	0.004000	0.12327	0.029000	0.11900	1.071000	0.30666	0.278000	0.22164	-0.315000	0.08773	GCG		0.468	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636	
INHBA	3624	broad.mit.edu	37	7	41739598	41739598	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:41739598C>T	ENST00000242208.4	-	2	621	c.375G>A	c.(373-375)acG>acA	p.T125T	INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Silent_p.T125T|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	125					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.T125T(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTCGGCAAACGTGATGATCT	0.532										TSP Lung(11;0.080)																											p.T125T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G375A	7						.						151.0	144.0	146.0					7																	41739598		2203	4300	6503	41706123	SO:0001819	synonymous_variant	3624	exon2				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.375G>A	7.37:g.41739598C>T			41706123	NM_002192	Q14599	Silent	SNP	ENST00000242208.4	37	CCDS5464.1																																																																																				0.532	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
GLI3	2737	broad.mit.edu	37	7	42004130	42004130	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:42004130T>C	ENST00000395925.3	-	15	4625	c.4541A>G	c.(4540-4542)gAc>gGc	p.D1514G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1514					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|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)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTGGAGTGGTCCCCATCGTC	0.587									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.D1514G												.	.	0			c.A4541G	7						.						120.0	104.0	110.0					7																	42004130		2203	4300	6503	41970655	SO:0001583	missense	2737	exon15	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4541A>G	7.37:g.42004130T>C	ENSP00000379258:p.Asp1514Gly		41970655	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746579	0.89663	.	.	ENSG00000106571	ENST00000395925	T	0.23754	1.89	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48186	-0.9057	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1514	P10071	GLI3_HUMAN	G	1514	ENSP00000379258:D1514G	ENSP00000379258:D1514G	D	-	2	0	GLI3	41970655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.035000	0.88872	2.308000	0.77769	0.533000	0.62120	GAC		0.587	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
DDX56	54606	broad.mit.edu	37	7	44608564	44608564	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:44608564C>T	ENST00000258772.5	-	11	1427	c.1321G>A	c.(1321-1323)Gcc>Acc	p.A441T	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.A401T	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	441					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.A441T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCCCGAATGGCCTGCTTAGTC	0.527																																					p.A441T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1321A	7						.						176.0	148.0	157.0					7																	44608564		2203	4300	6503	44575089	SO:0001583	missense	54606	exon11			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1321G>A	7.37:g.44608564C>T	ENSP00000258772:p.Ala441Thr		44575089	NM_019082	A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	26.3	4.723323	0.89298	.	.	ENSG00000136271	ENST00000258772;ENST00000431640;ENST00000448192	T;T	0.04360	3.64;3.64	5.2	2.15	0.27550	.	0.151769	0.64402	D	0.000017	T	0.12178	0.0296	M	0.82193	2.58	0.54753	D	0.999981	D;P	0.58620	0.983;0.556	P;B	0.50490	0.642;0.285	T	0.02713	-1.1120	10	0.48119	T	0.1	-11.7504	9.0738	0.36508	0.2939:0.5636:0.1425:0.0	.	401;441	C9JV95;Q9NY93	.;DDX56_HUMAN	T	441;401;46	ENSP00000258772:A441T;ENSP00000393488:A401T	ENSP00000258772:A441T	A	-	1	0	DDX56	44575089	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.100000	0.50275	0.673000	0.31224	0.655000	0.94253	GCC		0.527	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082	
IGFBP3	3486	broad.mit.edu	37	7	45956151	45956151	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:45956151T>A	ENST00000275521.6	-	3	879	c.746A>T	c.(745-747)aAg>aTg	p.K249M	IGFBP3_ENST00000465642.1_5'Flank|IGFBP3_ENST00000381083.4_Missense_Mutation_p.K255M|IGFBP3_ENST00000381086.5_Missense_Mutation_p.K152M	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	249	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)	p.K249M(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTCACCTGCTTTTTCTTATA	0.478																																					p.K249M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A746T	7						.						160.0	137.0	145.0					7																	45956151		2203	4300	6503	45922676	SO:0001583	missense	3486	exon3				CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.746A>T	7.37:g.45956151T>A	ENSP00000275521:p.Lys249Met		45922676	NM_000598	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	CCDS5505.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	24.5|24.5|24.5	4.535059|4.535059|4.535059	0.85812|0.85812|0.85812	.|.|.	.|.|.	ENSG00000146674|ENSG00000146674|ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047|ENST00000417621|ENST00000428530	T;T;T|T|.	0.64803|0.64803|.	-0.12;-0.12;-0.12|-0.12|.	5.07|5.07|5.07	5.07|5.07|5.07	0.68467|0.68467|0.68467	Thyroglobulin type-1 (6);|.|.	0.158606|0.158606|.	0.53938|0.53938|.	D|D|.	0.000041|0.000041|.	T|T|T	0.62853|0.62853|0.62853	0.2462|0.2462|0.2462	L|L|L	0.53249|0.53249|0.53249	1.67|1.67|1.67	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D|.|.	0.71674|.|.	0.998;0.998;0.998|.|.	D;D;D|.|.	0.72338|.|.	0.97;0.977;0.977|.|.	T|T|T	0.61496|0.61496|0.61496	-0.7051|-0.7051|-0.7051	10|8|5	0.87932|0.72032|.	D|D|.	0|0.01|.	-26.0579|-26.0579|-26.0579	12.7838|12.7838|12.7838	0.57493|0.57493|0.57493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	152;249;234|.|.	B3KWK7;P17936;B4DN53|.|.	.;IBP3_HUMAN;.|.|.	M|N|C	226;249;152;235;147;255;221|110|101	ENSP00000275521:K249M;ENSP00000370476:K152M;ENSP00000370473:K255M|ENSP00000399116:K110N|.	ENSP00000275521:K249M|ENSP00000399116:K110N|.	K|K|S	-|-|-	2|3|1	0|2|0	IGFBP3|IGFBP3|IGFBP3	45922676|45922676|45922676	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.966000|0.966000|0.966000	0.64601|0.64601|0.64601	7.573000|7.573000|7.573000	0.82421|0.82421|0.82421	1.907000|1.907000|1.907000	0.55213|0.55213|0.55213	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAG|AAA|AGC		0.478	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398	
PKD1L1	168507	broad.mit.edu	37	7	47917160	47917160	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:47917160G>A	ENST00000289672.2	-	22	3640	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1197	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A1197V(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACCTGACAGGCCATGTCCCG	0.542																																					p.A1197V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3590T	7						.						123.0	110.0	114.0					7																	47917160		2203	4300	6503	47883685	SO:0001583	missense	168507	exon22			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3590C>T	7.37:g.47917160G>A	ENSP00000289672:p.Ala1197Val		47883685	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	4.738	0.137246	0.09032	.	.	ENSG00000158683	ENST00000289672	T	0.69806	-0.43	5.26	1.06	0.20224	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.510610	0.04161	N	0.323103	T	0.55226	0.1907	L	0.27053	0.805	0.09310	N	1	B	0.33637	0.42	B	0.39419	0.299	T	0.40175	-0.9577	10	0.20046	T	0.44	-4.3315	5.2033	0.15277	0.0771:0.1216:0.5521:0.2491	.	1197	Q8TDX9	PK1L1_HUMAN	V	1197	ENSP00000289672:A1197V	ENSP00000289672:A1197V	A	-	2	0	PKD1L1	47883685	0.503000	0.26115	0.011000	0.14972	0.001000	0.01503	2.124000	0.42006	-0.031000	0.13781	-2.053000	0.00404	GCC		0.542	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47920364	47920364	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:47920364A>C	ENST00000289672.2	-	21	3532	c.3482T>G	c.(3481-3483)cTg>cGg	p.L1161R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1161	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L1161R(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCACTGCTCAGAGAGTATGG	0.478																																					p.L1161R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3482G	7						.						203.0	157.0	172.0					7																	47920364		2203	4300	6503	47886889	SO:0001583	missense	168507	exon21			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3482T>G	7.37:g.47920364A>C	ENSP00000289672:p.Leu1161Arg		47886889	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209958	0.58343	.	.	ENSG00000158683	ENST00000289672	T	0.79940	-1.32	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.532168	0.14908	N	0.291401	D	0.87116	0.6097	M	0.63843	1.955	0.27242	N	0.95912	D	0.89917	1.0	D	0.85130	0.997	T	0.78658	-0.2118	10	0.87932	D	0	-3.6842	10.4175	0.44331	1.0:0.0:0.0:0.0	.	1161	Q8TDX9	PK1L1_HUMAN	R	1161	ENSP00000289672:L1161R	ENSP00000289672:L1161R	L	-	2	0	PKD1L1	47886889	1.000000	0.71417	0.802000	0.32245	0.749000	0.42624	3.940000	0.56599	1.792000	0.52537	0.529000	0.55759	CTG		0.478	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
ABCA13	154664	broad.mit.edu	37	7	48311884	48311884	+	Missense_Mutation	SNP	C	C	A	rs143855703	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:48311884C>A	ENST00000435803.1	+	17	2645	c.2621C>A	c.(2620-2622)tCc>tAc	p.S874Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	874					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S874Y(1)|p.S819Y(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAACTTTTCCCAGTTGTTC	0.323																																					p.P820T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2458A	7						.						103.0	102.0	103.0					7																	48311884		1809	4068	5877	48282430	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2621C>A	7.37:g.48311884C>A	ENSP00000411096:p.Ser874Tyr		48282430	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162497	0.38217	.	.	ENSG00000179869	ENST00000435803	D	0.90197	-2.63	5.33	4.44	0.53790	.	0.000000	0.44097	D	0.000491	D	0.93485	0.7921	M	0.64997	1.995	0.41091	D	0.985597	D	0.69078	0.997	D	0.64506	0.926	D	0.94103	0.7364	10	0.72032	D	0.01	.	13.5571	0.61765	0.0:0.8445:0.1555:0.0	.	874	Q86UQ4	ABCAD_HUMAN	Y	874	ENSP00000411096:S874Y	ENSP00000411096:S874Y	S	+	2	0	ABCA13	48282430	0.837000	0.29446	0.107000	0.21349	0.289000	0.27227	2.680000	0.46918	1.470000	0.48102	0.650000	0.86243	TCC		0.323	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48390393	48390393	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:48390393T>G	ENST00000435803.1	+	30	10382	c.10358T>G	c.(10357-10359)tTg>tGg	p.L3453W		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3453					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L3453W(1)|p.L3398W(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATGAACTCTTGCAGCAGAAC	0.468																																					p.C3399G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T10195G	7						.						69.0	66.0	67.0					7																	48390393		1992	4176	6168	48360939	SO:0001583	missense	154664	exon28			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10358T>G	7.37:g.48390393T>G	ENSP00000411096:p.Leu3453Trp		48360939	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222145	0.39300	.	.	ENSG00000179869	ENST00000435803	D	0.90955	-2.76	4.81	3.65	0.41850	.	0.359244	0.23682	N	0.045605	D	0.92453	0.7604	M	0.65677	2.01	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.60173	0.843;0.87	D	0.91155	0.4956	10	0.72032	D	0.01	.	8.155	0.31162	0.0:0.0914:0.0:0.9086	.	1155;3453	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	W	3453	ENSP00000411096:L3453W	ENSP00000411096:L3453W	L	+	2	0	ABCA13	48360939	1.000000	0.71417	0.140000	0.22221	0.247000	0.25773	4.591000	0.61019	0.695000	0.31675	0.533000	0.62120	TTG		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
POM121L12	285877	broad.mit.edu	37	7	53103492	53103492	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:53103492C>T	ENST00000408890.4	+	1	144	c.128C>T	c.(127-129)aCg>aTg	p.T43M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	43								p.T43M(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCAGACCACGCCATCTCCC	0.682																																					p.T43M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128T	7						.						25.0	32.0	30.0					7																	53103492		2044	4185	6229	53070986	SO:0001583	missense	285877	exon1				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.128C>T	7.37:g.53103492C>T	ENSP00000386133:p.Thr43Met		53070986	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.782	0.709661	0.15239	.	.	ENSG00000221900	ENST00000408890	T	0.23754	1.89	1.94	-0.0254	0.13935	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.26087	-1.0113	9	0.44086	T	0.13	.	2.3727	0.04334	0.2961:0.5188:0.0:0.1851	.	43	Q8N7R1	P1L12_HUMAN	M	43	ENSP00000386133:T43M	ENSP00000386133:T43M	T	+	2	0	POM121L12	53070986	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.196000	0.17176	-0.012000	0.14223	0.462000	0.41574	ACG		0.682	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55259434	55259434	+	Missense_Mutation	SNP	G	G	A	rs150036236		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:55259434G>A	ENST00000275493.2	+	21	2669	c.2492G>A	c.(2491-2493)cGt>cAt	p.R831H	EGFR_ENST00000454757.2_Missense_Mutation_p.R778H|EGFR_ENST00000455089.1_Missense_Mutation_p.R786H|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	831	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.R831H(3)		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)	TTGGAGGACCGTCGCTTGGTG	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.R831H		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,NS,NS,Substitution - Missense,-2 	.	3	Substitution - Missense(3)	peritoneum(2)|large_intestine(1)	c.G2492A	7						.	G	HIS/ARG	0,4406		0,0,2203	108.0	92.0	97.0		2492	4.9	1.0	7	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EGFR	NM_005228.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	831/1211	55259434	2,13004	2203	4300	6503	55226928	SO:0001583	missense	1956	exon21	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.2492G>A	7.37:g.55259434G>A	ENSP00000275493:p.Arg831His		55226928	NM_005228	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335332	0.60853	0.0	2.33E-4	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.83250	-1.7;-1.7;-1.7	5.82	4.94	0.65067	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	L	0.39326	1.205	0.58432	D	0.999997	B;P	0.42871	0.248;0.792	B;B	0.34779	0.042;0.189	T	0.72421	-0.4299	10	0.28530	T	0.3	.	13.7102	0.62663	0.0744:0.0:0.9256:0.0	.	786;831	Q504U8;P00533	.;EGFR_HUMAN	H	786;701;831;778	ENSP00000415559:R786H;ENSP00000275493:R831H;ENSP00000395243:R778H	ENSP00000275493:R831H	R	+	2	0	EGFR	55226928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.438000	0.66550	1.473000	0.48159	0.650000	0.86243	CGT		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
TYW1	55253	broad.mit.edu	37	7	66703349	66703349	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:66703349C>A	ENST00000359626.5	+	16	2196	c.2032C>A	c.(2032-2034)Ctc>Atc	p.L678I		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	678					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.L678I(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTTCCAGGAGCTCATCCAGGA	0.418																																					p.L678I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2032A	7						.						56.0	54.0	55.0					7																	66703349		2202	4280	6482	66340784	SO:0001583	missense	55253	exon16			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.2032C>A	7.37:g.66703349C>A	ENSP00000352645:p.Leu678Ile		66340784	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151350	0.78001	.	.	ENSG00000198874	ENST00000359626	T	0.27890	1.64	3.74	3.74	0.42951	.	0.197695	0.33419	U	0.004940	T	0.59824	0.2222	M	0.89904	3.07	0.54753	D	0.999987	D	0.71674	0.998	D	0.68943	0.961	T	0.70156	-0.4949	10	0.87932	D	0	.	13.1231	0.59338	0.0:1.0:0.0:0.0	.	678	Q9NV66	TYW1_HUMAN	I	678	ENSP00000352645:L678I	ENSP00000352645:L678I	L	+	1	0	TYW1	66340784	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.328000	0.72915	1.915000	0.55452	0.405000	0.27470	CTC		0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264	
WBSCR17	64409	broad.mit.edu	37	7	71175892	71175892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:71175892C>A	ENST00000333538.5	+	10	2281	c.1647C>A	c.(1645-1647)taC>taA	p.Y549*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	549	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y549*(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCAGCCTGTACAAGCGCTGGA	0.607																																					p.Y549X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1647A	7						.						49.0	45.0	46.0					7																	71175892		2203	4300	6503	70813828	SO:0001587	stop_gained	64409	exon10			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1647C>A	7.37:g.71175892C>A	ENSP00000329654:p.Tyr549*		70813828	NM_022479	Q8NFV9|Q9NTA8	Nonsense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	43	10.074125	0.99331	.	.	ENSG00000185274	ENST00000333538	.	.	.	5.28	4.41	0.53225	.	0.122240	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	4.8901	0.13722	0.1708:0.6594:0.0:0.1697	.	.	.	.	X	549	.	ENSP00000329654:Y549X	Y	+	3	2	WBSCR17	70813828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.498000	0.22530	1.467000	0.48044	0.655000	0.94253	TAC		0.607	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
GTF2IRD1	9569	broad.mit.edu	37	7	74005276	74005276	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:74005276G>A	ENST00000265755.3	+	24	2959	c.2566G>A	c.(2566-2568)Gac>Aac	p.D856N	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.D841N|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.D873N|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.D841N	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	856					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D856Y(1)|p.D856N(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAACACGTACGACATCCACCG	0.602																																					p.D841N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2521A	7						.						85.0	76.0	79.0					7																	74005276		2203	4300	6503	73643212	SO:0001583	missense	9569	exon24			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2566G>A	7.37:g.74005276G>A	ENSP00000265755:p.Asp856Asn		73643212	NM_005685	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.48|18.48	3.633902|3.633902	0.67130|0.67130	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977|ENST00000470715	T;T;T;T|.	0.51071|.	0.72;0.72;0.72;0.72|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74382|0.74382	0.3709|0.3709	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999999|0.999999	D;P;B;B|.	0.89917|.	1.0;0.773;0.102;0.039|.	D;B;B;B|.	0.68483|.	0.958;0.28;0.037;0.022|.	T|T	0.73569|0.73569	-0.3941|-0.3941	10|5	0.72032|.	D|.	0.01|.	-25.6368|-25.6368	16.5755|16.5755	0.84635|0.84635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	873;841;856;841|.	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2|.	.;.;GT2D1_HUMAN;.|.	N|Q	856;873;841;841|218	ENSP00000265755:D856N;ENSP00000397566:D873N;ENSP00000408477:D841N;ENSP00000418383:D841N|.	ENSP00000265755:D856N|.	D|R	+|+	1|2	0|0	GTF2IRD1|GTF2IRD1	73643212|73643212	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.411000|0.411000	0.31082|0.31082	9.030000|9.030000	0.93725|0.93725	2.599000|2.599000	0.87857|0.87857	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.602	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
HGF	3082	broad.mit.edu	37	7	81381502	81381502	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:81381502G>A	ENST00000222390.5	-	5	785	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	HGF_ENST00000457544.2_Missense_Mutation_p.P182S|HGF_ENST00000444829.2_Missense_Mutation_p.P187S|HGF_ENST00000423064.2_Missense_Mutation_p.P187S|HGF_ENST00000453411.1_Missense_Mutation_p.P182S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	187	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|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 via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.P187S(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AAACACCAGGGTCCCCCTTCT	0.443																																					p.P187S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	7						.						147.0	127.0	133.0					7																	81381502		2203	4300	6503	81219438	SO:0001583	missense	3082	exon5				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.559C>T	7.37:g.81381502G>A	ENSP00000222390:p.Pro187Ser		81219438	NM_001010934	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195333	0.94960	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	6.05	6.05	0.98169	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	H	0.96604	3.85	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;1.0;1.0;0.999;1.0	D	0.95480	0.8559	10	0.72032	D	0.01	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	222;182;187;182;187	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	S	187;182;187;182;187;187	ENSP00000222390:P187S;ENSP00000391238:P182S;ENSP00000389854:P187S;ENSP00000408270:P182S;ENSP00000413829:P187S	ENSP00000222390:P187S	P	-	1	0	HGF	81219438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.966000	0.93397	2.880000	0.98712	0.655000	0.94253	CCC		0.443	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
CACNA2D1	781	broad.mit.edu	37	7	81613996	81613996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:81613996delA	ENST00000356253.5	-	23	2140	c.1885delT	c.(1885-1887)tacfs	p.Y630fs	CACNA2D1_ENST00000356860.3_Frame_Shift_Del_p.Y611fs			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	630					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Y610fs*3(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTTATATAGTAAAAACTGTAG	0.343																																					p.Y610fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1828delT	7						.						85.0	74.0	77.0					7																	81613996		2195	4289	6484	81451932	SO:0001589	frameshift_variant	781	exon22			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1885delT	7.37:g.81613996delA	ENSP00000348589:p.Tyr630fs		81451932	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Frame_Shift_Del	DEL	ENST00000356253.5	37																																																																																					0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
SEMA3D	223117	broad.mit.edu	37	7	84727178	84727178	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:84727178T>C	ENST00000284136.6	-	2	298	c.255A>G	c.(253-255)ggA>ggG	p.G85G	SEMA3D_ENST00000444867.1_Silent_p.G85G	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G85G(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						GGTCTTTGGCTCCCAAGAGCA	0.353																																					p.G85G	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A255G	7						.						116.0	121.0	119.0					7																	84727178		2203	4300	6503	84565114	SO:0001819	synonymous_variant	223117	exon2			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.255A>G	7.37:g.84727178T>C			84565114	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																				0.353	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
KIAA1324L	222223	broad.mit.edu	37	7	86556114	86556114	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:86556114T>C	ENST00000450689.2	-	9	1393	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y163C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y236C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.Y403C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	403						integral component of membrane (GO:0016021)		p.Y163C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCCATTGTTATAAAATCCAGG	0.468																																					p.Y236C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A707G	7						.						131.0	130.0	130.0					7																	86556114		2203	4300	6503	86394050	SO:0001583	missense	222223	exon8			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1208A>G	7.37:g.86556114T>C	ENSP00000413445:p.Tyr403Cys		86394050	NM_152748	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677777	0.68042	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.17054	2.3;2.3;2.3;2.64	5.53	5.53	0.82687	Growth factor, receptor (1);	0.122031	0.56097	D	0.000022	T	0.31702	0.0805	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.57571	0.98;0.969;0.969	P;P;P	0.57371	0.819;0.591;0.591	T	0.03829	-1.1000	10	0.66056	D	0.02	.	10.1355	0.42704	0.149:0.0:0.0:0.851	.	403;163;236	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	C	403;163;403;236	ENSP00000413445:Y403C;ENSP00000297222:Y163C;ENSP00000397377:Y403C;ENSP00000402390:Y236C	ENSP00000297222:Y163C	Y	-	2	0	KIAA1324L	86394050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.389000	0.52516	2.098000	0.63641	0.460000	0.39030	TAT		0.468	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
ZNF804B	219578	broad.mit.edu	37	7	88847523	88847523	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:88847523T>C	ENST00000333190.4	+	2	772	c.163T>C	c.(163-165)Ttt>Ctt	p.F55L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	55							metal ion binding (GO:0046872)	p.F55L(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)			AAAGGCAAACTTTTACTGTGA	0.363										HNSCC(36;0.09)																											p.F55L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T163C	7						.						96.0	93.0	94.0					7																	88847523		2203	4300	6503	88685459	SO:0001583	missense	219578	exon2			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.163T>C	7.37:g.88847523T>C	ENSP00000329638:p.Phe55Leu		88685459	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	32	5.156561	0.94686	.	.	ENSG00000182348	ENST00000333190	T	0.33216	1.42	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);	0.000000	0.64402	D	0.000004	T	0.60547	0.2277	M	0.85462	2.755	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.67616	-0.5625	10	0.87932	D	0	-13.2578	15.4283	0.75072	0.0:0.0:0.0:1.0	.	55	A4D1E1	Z804B_HUMAN	L	55	ENSP00000329638:F55L	ENSP00000329638:F55L	F	+	1	0	ZNF804B	88685459	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.868000	0.87116	2.238000	0.73509	0.397000	0.26171	TTT		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
ANKIB1	54467	broad.mit.edu	37	7	91936914	91936914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:91936914delA	ENST00000265742.3	+	3	806	c.430delA	c.(430-432)aaafs	p.K145fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	145							zinc ion binding (GO:0008270)	p.N146fs*12(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTTGATAACAAAAAAAACAC	0.363																																					p.K144fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.430delA	7						.						61.0	59.0	60.0					7																	91936914		1881	4106	5987	91774850	SO:0001589	frameshift_variant	54467	exon3			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.430delA	7.37:g.91936914delA	ENSP00000265742:p.Lys145fs		91774850	NM_019004	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Frame_Shift_Del	DEL	ENST00000265742.3	37	CCDS47639.1																																																																																				0.363	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		
COL1A2	1278	broad.mit.edu	37	7	94058532	94058532	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:94058532G>T	ENST00000297268.6	+	51	4215	c.3744G>T	c.(3742-3744)aaG>aaT	p.K1248N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1248	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.K1248N(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGACTTCCAAGGAAATGGCTA	0.428										HNSCC(75;0.22)																											p.K1248N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3744T	7						.						69.0	67.0	68.0					7																	94058532		2203	4300	6503	93896468	SO:0001583	missense	1278	exon51			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3744G>T	7.37:g.94058532G>T	ENSP00000297268:p.Lys1248Asn		93896468	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	4.427	0.078922	0.08533	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.73258	-0.73	5.09	3.22	0.36961	Fibrillar collagen, C-terminal (3);	0.054730	0.64402	D	0.000001	T	0.48909	0.1526	N	0.16368	0.405	0.45634	D	0.998567	B	0.21071	0.051	B	0.23852	0.049	T	0.37979	-0.9682	10	0.05525	T	0.97	.	11.1542	0.48478	0.1573:0.0:0.8427:0.0	.	1248	P08123	CO1A2_HUMAN	N	1248;1249	ENSP00000297268:K1248N	ENSP00000297268:K1248N	K	+	3	2	COL1A2	93896468	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.832000	0.48152	0.758000	0.33059	0.655000	0.94253	AAG		0.428	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
CASD1	64921	broad.mit.edu	37	7	94173741	94173741	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:94173741C>T	ENST00000297273.4	+	11	1662	c.1375C>T	c.(1375-1377)Cac>Tac	p.H459Y		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	459						integral component of membrane (GO:0016021)		p.H459Y(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTATACATGCACATTCGAGT	0.343																																					p.H459Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375T	7						.						165.0	154.0	158.0					7																	94173741		2203	4300	6503	94011677	SO:0001583	missense	64921	exon11			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1375C>T	7.37:g.94173741C>T	ENSP00000297273:p.His459Tyr		94011677	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187152	0.78789	.	.	ENSG00000127995	ENST00000297273	T	0.45276	0.9	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.989	T	0.60959	-0.7159	10	0.41790	T	0.15	.	18.1737	0.89754	0.0:1.0:0.0:0.0	.	459;459	Q8WZ77;Q96PB1	.;CASD1_HUMAN	Y	459	ENSP00000297273:H459Y	ENSP00000297273:H459Y	H	+	1	0	CASD1	94011677	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.782000	0.85680	2.377000	0.81083	0.455000	0.32223	CAC		0.343	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	
BAIAP2L1	55971	broad.mit.edu	37	7	97937030	97937030	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:97937030C>A	ENST00000005260.8	-	10	1349	c.1134G>T	c.(1132-1134)tgG>tgT	p.W378C	BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000608882.1_RNA|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	378	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.W378C(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCATAGAGCCAGCCATCCT	0.597																																					p.W378C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1134T	7						.						155.0	112.0	127.0					7																	97937030		2203	4300	6503	97774966	SO:0001583	missense	55971	exon10			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1134G>T	7.37:g.97937030C>A	ENSP00000005260:p.Trp378Cys		97774966	NM_018842	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937582	0.73557	.	.	ENSG00000006453	ENST00000005260	T	0.75589	-0.95	4.87	4.87	0.63330	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95055	0.8190	10	0.87932	D	0	-9.2573	17.3604	0.87348	0.0:1.0:0.0:0.0	.	378	Q9UHR4	BI2L1_HUMAN	C	378	ENSP00000005260:W378C	ENSP00000005260:W378C	W	-	3	0	AC093799.1	97774966	1.000000	0.71417	0.999000	0.59377	0.674000	0.39518	7.445000	0.80570	2.426000	0.82243	0.557000	0.71058	TGG		0.597	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
CPSF4	10898	broad.mit.edu	37	7	99051618	99051618	+	Silent	SNP	G	G	A	rs186458191		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:99051618G>A	ENST00000292476.5	+	7	610	c.600G>A	c.(598-600)tcG>tcA	p.S200S	CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000436336.2_Intron|CPSF4_ENST00000451876.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000441580.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	200					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S200S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	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)					TACAAAGGTCGTCCTCCTTGA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20816	0.0		0.001	False		,,,				2504	0.0				p.S200S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G600A	7						.						230.0	240.0	237.0					7																	99051618		2203	4300	6503	98889554	SO:0001819	synonymous_variant	10898	exon7				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.600G>A	7.37:g.99051618G>A			98889554	NM_006693	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	CCDS5664.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.599	0.886498	0.17540	.	.	ENSG00000160917	ENST00000440514	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56523	-0.7965	4	.	.	.	-7.1225	6.9773	0.24683	0.14:0.0:0.7129:0.1471	.	.	.	.	I	82	.	.	V	+	1	0	CPSF4	98889554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.218000	0.32467	2.686000	0.91538	0.655000	0.94253	GTC		0.512	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1		
IQUB	154865	broad.mit.edu	37	7	123143412	123143412	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:123143412delT	ENST00000466202.1	-	4	1114	c.538delA	c.(538-540)attfs	p.I180fs	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Frame_Shift_Del_p.I180fs|IQUB_ENST00000434450.1_Frame_Shift_Del_p.I180fs	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	180	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.I180fs*8(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTTTTAAGAATTTTTCCTAAA	0.259																																					p.I180fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.538delA	7						.						53.0	59.0	57.0					7																	123143412		2196	4293	6489	122930648	SO:0001589	frameshift_variant	154865	exon4			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.538delA	7.37:g.123143412delT	ENSP00000417769:p.Ile180fs		122930648	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Frame_Shift_Del	DEL	ENST00000466202.1	37	CCDS5787.1																																																																																				0.259	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
CHCHD3	54927	broad.mit.edu	37	7	132470338	132470338	+	3'UTR	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:132470338delA	ENST00000262570.5	-	0	888				CHCHD3_ENST00000448878.1_3'UTR|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3						inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TCTCACTAGGAAAAAAAATGT	0.373																																					.												.	.	0			.	7						.						149.0	118.0	127.0					7																	132470338		692	1591	2283	132120878	SO:0001624	3_prime_UTR_variant	54927	.			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.*60T>-	7.37:g.132470338delA			132120878	.		Frame_Shift_Del	DEL	ENST00000262570.5	37	CCDS5828.1																																																																																				0.373	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812	
ZNF212	7988	broad.mit.edu	37	7	148947632	148947632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:148947632delC	ENST00000335870.2	+	2	535	c.407delC	c.(406-408)gccfs	p.A136fs		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.K138fs*32(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AAGGGGGAGGCCCCCAAGGTA	0.557																																					p.A136fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.407delC	7						.						57.0	75.0	69.0					7																	148947632		2196	4298	6494	148578565	SO:0001589	frameshift_variant	7988	exon2			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.407delC	7.37:g.148947632delC	ENSP00000338572:p.Ala136fs		148578565	NM_012256	B2RCF4|Q13396|Q8N664	Frame_Shift_Del	DEL	ENST00000335870.2	37	CCDS5896.1																																																																																				0.557	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256	
XRCC2	7516	broad.mit.edu	37	7	152346357	152346357	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr7:152346357T>G	ENST00000359321.1	-	3	298	c.213A>C	c.(211-213)gaA>gaC	p.E71D	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	71					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.E71D(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CCAGGCCACCTTCTGATTTGG	0.398								Homologous recombination																													p.E71D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A213C	7						.						111.0	99.0	103.0					7																	152346357		2203	4300	6503	151977290	SO:0001583	missense	7516	exon3			Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.213A>C	7.37:g.152346357T>G	ENSP00000352271:p.Glu71Asp		151977290	NM_005431	B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949391	0.34377	.	.	ENSG00000196584	ENST00000359321	T	0.39592	1.07	5.39	3.05	0.35203	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.550372	0.20906	N	0.083558	T	0.30854	0.0778	L	0.55834	1.745	0.32362	N	0.557025	B	0.06786	0.001	B	0.12837	0.008	T	0.31336	-0.9947	10	0.12766	T	0.61	-18.9255	4.7132	0.12882	0.0:0.1688:0.1617:0.6695	.	71	O43543	XRCC2_HUMAN	D	71	ENSP00000352271:E71D	ENSP00000352271:E71D	E	-	3	2	XRCC2	151977290	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	1.435000	0.34969	0.373000	0.24621	0.482000	0.46254	GAA		0.398	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431	
VPS13B	157680	broad.mit.edu	37	8	100514004	100514004	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:100514004A>G	ENST00000358544.2	+	26	4071	c.3960A>G	c.(3958-3960)ggA>ggG	p.G1320G	VPS13B_ENST00000395996.1_Silent_p.G1320G|VPS13B_ENST00000357162.2_Silent_p.G1320G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1320					protein transport (GO:0015031)			p.G1320G(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAACCAGTGGACGTGTTAGTT	0.428																																					p.G1320G	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A3960G	8						.						170.0	167.0	168.0					8																	100514004		2203	4300	6503	100583180	SO:0001819	synonymous_variant	157680	exon26			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3960A>G	8.37:g.100514004A>G			100583180	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
ODF1	4956	broad.mit.edu	37	8	103564067	103564067	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:103564067G>A	ENST00000285402.3	+	1	268	c.112G>A	c.(112-114)Gac>Aac	p.D38N		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	38	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.D38N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GTGCCTGTGCGACTTGTATAT	0.498																																					p.D38N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	8						.						370.0	284.0	313.0					8																	103564067		2203	4300	6503	103633243	SO:0001583	missense	4956	exon1			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.112G>A	8.37:g.103564067G>A	ENSP00000285402:p.Asp38Asn		103633243	NM_024410	Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456204	0.63401	.	.	ENSG00000155087	ENST00000285402	T	0.44083	0.93	5.7	4.82	0.62117	.	0.000000	0.56097	D	0.000028	T	0.24812	0.0602	N	0.08118	0	0.80722	D	1	P	0.51449	0.945	B	0.43508	0.422	T	0.05616	-1.0874	10	0.72032	D	0.01	-36.0749	9.6182	0.39706	0.0928:0.0:0.9072:0.0	.	38	Q14990	ODFP1_HUMAN	N	38	ENSP00000285402:D38N	ENSP00000285402:D38N	D	+	1	0	ODF1	103633243	0.867000	0.29959	0.996000	0.52242	0.423000	0.31445	2.740000	0.47418	2.682000	0.91365	0.563000	0.77884	GAC		0.498	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		
PKHD1L1	93035	broad.mit.edu	37	8	110457436	110457436	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:110457436G>A	ENST00000378402.5	+	38	5442	c.5338G>A	c.(5338-5340)Gct>Act	p.A1780T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1780	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A1782T(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)			GGAGGACATTGCTGTTTTCAT	0.408										HNSCC(38;0.096)																											p.A1780T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5338A	8						.						103.0	96.0	98.0					8																	110457436		1904	4137	6041	110526612	SO:0001583	missense	93035	exon38			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.5338G>A	8.37:g.110457436G>A	ENSP00000367655:p.Ala1780Thr		110526612	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254353	0.01457	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	6.03	-3.42	0.04825	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.805279	0.11508	N	0.557006	T	0.58509	0.2127	L	0.54323	1.7	0.09310	N	0.999999	B	0.21520	0.057	B	0.26614	0.071	T	0.46247	-0.9205	10	0.11485	T	0.65	.	2.0392	0.03546	0.2072:0.0906:0.2706:0.4316	.	1780	Q86WI1	PKHL1_HUMAN	T	1780	ENSP00000367655:A1780T	ENSP00000367655:A1780T	A	+	1	0	PKHD1L1	110526612	0.728000	0.28080	0.978000	0.43139	0.343000	0.28985	0.405000	0.21015	-0.472000	0.06881	-0.897000	0.02905	GCT		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
CSMD3	114788	broad.mit.edu	37	8	113314101	113314101	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:113314101C>A	ENST00000297405.5	-	53	8605	c.8361G>T	c.(8359-8361)ttG>ttT	p.L2787F	CSMD3_ENST00000343508.3_Missense_Mutation_p.L2747F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2717F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2618F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2787	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2787F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCATGAATCCCAAGTCGCAGG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.L2787F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8361T	8						.						127.0	127.0	127.0					8																	113314101		2203	4300	6503	113383277	SO:0001583	missense	114788	exon53			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8361G>T	8.37:g.113314101C>A	ENSP00000297405:p.Leu2787Phe		113383277	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179485	0.57800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.62	-8.12	0.01078	Complement control module (2);Sushi/SCR/CCP (3);	0.748097	0.11921	N	0.516648	T	0.40719	0.1128	N	0.12471	0.22	0.20926	N	0.99983	B;B;B	0.31859	0.343;0.178;0.244	B;B;B	0.38428	0.189;0.226;0.273	T	0.50074	-0.8870	10	0.66056	D	0.02	.	10.7255	0.46066	0.0:0.5455:0.111:0.3435	.	2618;2787;2747	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2747;2787;2057;2618;2717	ENSP00000345799:L2747F;ENSP00000297405:L2787F;ENSP00000341558:L2057F;ENSP00000412263:L2618F;ENSP00000343124:L2717F	ENSP00000297405:L2787F	L	-	3	2	CSMD3	113383277	0.000000	0.05858	0.144000	0.22314	0.938000	0.57974	-2.990000	0.00658	-1.188000	0.02705	0.655000	0.94253	TTG		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113332153	113332153	+	Missense_Mutation	SNP	G	G	A	rs370458785		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:113332153G>A	ENST00000297405.5	-	46	7467	c.7223C>T	c.(7222-7224)aCg>aTg	p.T2408M	CSMD3_ENST00000343508.3_Missense_Mutation_p.T2368M|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2338M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2304M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2408	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2408M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCTTCCGTCAAAATTTC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.T2408M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7223T	8						.	A	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	125.0	126.0	126.0		6911,7223,7103	4.2	1.0	8		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	2304/3539,2408/3708,2368/3668	113332153	1,13005	2203	4300	6503	113401329	SO:0001583	missense	114788	exon46			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7223C>T	8.37:g.113332153G>A	ENSP00000297405:p.Thr2408Met		113401329	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	g	12.03	1.814375	0.32053	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.07	4.2	0.49525	Complement control module (2);Sushi/SCR/CCP (3);	0.248097	0.30830	N	0.008785	T	0.23289	0.0563	L	0.46614	1.455	0.27489	N	0.952358	B;B;B	0.31655	0.334;0.014;0.115	B;B;B	0.28553	0.091;0.044;0.04	T	0.09314	-1.0680	10	0.37606	T	0.19	.	14.0482	0.64716	0.0734:0.0:0.9266:0.0	.	2304;2408;2368	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	2368;2408;1678;2304;2338	ENSP00000345799:T2368M;ENSP00000297405:T2408M;ENSP00000341558:T1678M;ENSP00000412263:T2304M;ENSP00000343124:T2338M	ENSP00000297405:T2408M	T	-	2	0	CSMD3	113401329	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	2.715000	0.47210	1.283000	0.44513	-0.200000	0.12747	ACG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
NEIL2	252969	broad.mit.edu	37	8	11629094	11629094	+	Splice_Site	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:11629094G>T	ENST00000284503.6	+	2	737	c.138G>T	c.(136-138)caG>caT	p.Q46H	NEIL2_ENST00000528323.1_Missense_Mutation_p.Q46H|NEIL2_ENST00000436750.3_Splice_Site_p.Q46H|NEIL2_ENST00000403422.3_Intron|NEIL2_ENST00000455213.2_Splice_Site_p.Q46H	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	46					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)	p.Q46H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGGACACCCAGGTGAGGTAAT	0.597								Base excision repair (BER), DNA glycosylases																													p.Q46H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	8						.						82.0	81.0	81.0					8																	11629094		2203	4300	6503	11666503	SO:0001630	splice_region_variant	252969	exon3			AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.138+1G>T	8.37:g.11629094G>T			11666503	NM_001135748	B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448741	0.63178	.	.	ENSG00000154328	ENST00000530433;ENST00000455213;ENST00000528323;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T	0.16457	2.5;2.34;2.5;2.5	4.36	4.36	0.52297	DNA glycosylase/AP lyase, catalytic domain (2);	0.181281	0.48767	D	0.000177	T	0.35740	0.0942	L	0.60455	1.87	0.80722	D	1	P;D	0.76494	0.726;0.999	B;D	0.69479	0.188;0.964	T	0.07065	-1.0792	10	0.56958	D	0.05	-17.2806	13.7311	0.62787	0.0:0.0:1.0:0.0	.	46;46	B4DFR7;Q969S2	.;NEIL2_HUMAN	H	46	ENSP00000397538:Q46H;ENSP00000435657:Q46H;ENSP00000394023:Q46H;ENSP00000284503:Q46H	ENSP00000284503:Q46H	Q	+	3	2	NEIL2	11666503	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.584000	0.53936	2.256000	0.74724	0.561000	0.74099	CAG		0.597	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043	Missense_Mutation
FDFT1	2222	broad.mit.edu	37	8	11695967	11695967	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:11695967C>T	ENST00000220584.4	+	8	1325	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	FDFT1_ENST00000530664.1_Missense_Mutation_p.T304M|FDFT1_ENST00000525777.1_Missense_Mutation_p.T283M|FDFT1_ENST00000528643.1_Missense_Mutation_p.T283M|FDFT1_ENST00000443614.2_Missense_Mutation_p.T325M|FDFT1_ENST00000538689.1_Missense_Mutation_p.T257M|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528812.1_Missense_Mutation_p.T304M|FDFT1_ENST00000525900.1_Missense_Mutation_p.T361M	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	368					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)	p.T368M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ACCATCCGGACGCAGAATCTT	0.478																																					p.T368M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1103T	8						.						158.0	128.0	138.0					8																	11695967		2203	4300	6503	11733376	SO:0001583	missense	2222	exon8			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.1103C>T	8.37:g.11695967C>T	ENSP00000220584:p.Thr368Met		11733376	NM_004462	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263427	0.23051	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.46	2.48	0.30137	Terpenoid synthase (2);	0.521911	0.22115	N	0.064423	T	0.43809	0.1264	N	0.03608	-0.345	0.19300	N	0.999974	B;B;B;B;B	0.22909	0.021;0.014;0.077;0.009;0.009	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.001	T	0.42430	-0.9452	10	0.66056	D	0.02	-5.6619	8.6156	0.33829	0.3514:0.573:0.0:0.0755	.	201;325;425;361;368	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	M	257;368;325;361;304;304;283;283	ENSP00000444248:T257M;ENSP00000220584:T368M;ENSP00000390367:T325M;ENSP00000434714:T361M;ENSP00000431749:T304M;ENSP00000432331:T304M;ENSP00000431649:T283M;ENSP00000436069:T283M	ENSP00000220584:T368M	T	+	2	0	FDFT1	11733376	0.419000	0.25449	0.057000	0.19452	0.692000	0.40212	1.019000	0.30014	0.872000	0.35775	0.591000	0.81541	ACG		0.478	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2		
CSMD3	114788	broad.mit.edu	37	8	113697831	113697831	+	Silent	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:113697831A>C	ENST00000297405.5	-	15	2530	c.2286T>G	c.(2284-2286)tcT>tcG	p.S762S	CSMD3_ENST00000343508.3_Silent_p.S722S|CSMD3_ENST00000352409.3_Silent_p.S762S|CSMD3_ENST00000455883.2_Silent_p.S658S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	762	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S762S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCATTGAAAGAAAGATGTA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S762S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2286G	8						.						101.0	108.0	106.0					8																	113697831		2203	4300	6503	113767007	SO:0001819	synonymous_variant	114788	exon15			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2286T>G	8.37:g.113697831A>C			113767007	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SLC30A8	169026	broad.mit.edu	37	8	118169974	118169974	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:118169974A>T	ENST00000456015.2	+	4	463	c.463A>T	c.(463-465)Act>Tct	p.T155S	SLC30A8_ENST00000427715.2_Missense_Mutation_p.T106S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.T106S|SLC30A8_ENST00000519688.1_Missense_Mutation_p.T106S	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	155					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.T155S(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTGGGTGGTGACTGGCGTGCT	0.542																																					p.T155S	Ovarian(162;1202 1922 6011 16223 52092)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A463T	8						.						323.0	285.0	297.0					8																	118169974		2203	4300	6503	118239155	SO:0001583	missense	169026	exon4				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.463A>T	8.37:g.118169974A>T	ENSP00000415011:p.Thr155Ser		118239155	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.818378	0.90790	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71800	-0.4483	10	0.40728	T	0.16	-22.7933	15.2716	0.73705	1.0:0.0:0.0:0.0	.	155	Q8IWU4	ZNT8_HUMAN	S	106;106;106;155	ENSP00000428545:T106S;ENSP00000407505:T106S;ENSP00000431069:T106S;ENSP00000415011:T155S	ENSP00000407505:T106S	T	+	1	0	SLC30A8	118239155	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	9.339000	0.96797	2.198000	0.70561	0.533000	0.62120	ACT		0.542	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
FBXO32	114907	broad.mit.edu	37	8	124544146	124544146	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:124544146C>T	ENST00000517956.1	-	4	555	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	FBXO32_ENST00000443022.2_Missense_Mutation_p.V122M	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	122					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)		p.V122M(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCCGGACCACGTAGTTAAAT	0.448																																					p.V122M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	8						.						89.0	90.0	90.0					8																	124544146		2203	4300	6503	124613327	SO:0001583	missense	114907	exon4			AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.364G>A	8.37:g.124544146C>T	ENSP00000428205:p.Val122Met		124613327	NM_058229	A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597545	0.87055	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.25749	1.78;1.83	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	M	0.87328	2.875	0.30542	N	0.766321	D;D	0.89917	0.999;1.0	D;D	0.83275	0.912;0.996	T	0.63906	-0.6531	10	0.56958	D	0.05	-0.6537	19.6493	0.95794	0.0:1.0:0.0:0.0	.	122;122	A4KYM0;Q969P5	.;FBX32_HUMAN	M	122	ENSP00000428205:V122M;ENSP00000390790:V122M	ENSP00000390790:V122M	V	-	1	0	FBXO32	124613327	1.000000	0.71417	0.325000	0.25375	0.880000	0.50808	7.601000	0.82783	2.638000	0.89438	0.650000	0.86243	GTG		0.448	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1		
KCNQ3	3786	broad.mit.edu	37	8	133187754	133187754	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:133187754T>C	ENST00000388996.4	-	5	1299	c.879A>G	c.(877-879)ggA>ggG	p.G293G	KCNQ3_ENST00000521134.1_Silent_p.G173G|KCNQ3_ENST00000519445.1_Silent_p.G293G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	293					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G293G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCATCTCCTCTCCTTGTGCAT	0.502																																					p.G293G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A879G	8						.						164.0	148.0	153.0					8																	133187754		2203	4300	6503	133256936	SO:0001819	synonymous_variant	3786	exon5			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.879A>G	8.37:g.133187754T>C			133256936	NM_004519	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
ZFAT	57623	broad.mit.edu	37	8	135649742	135649742	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:135649742A>C	ENST00000377838.3	-	3	584	c.410T>G	c.(409-411)aTt>aGt	p.I137S	ZFAT_ENST00000520727.1_Missense_Mutation_p.I125S|ZFAT_ENST00000520356.1_Missense_Mutation_p.I125S|ZFAT_ENST00000429442.2_Missense_Mutation_p.I125S|ZFAT_ENST00000520214.1_Missense_Mutation_p.I125S|ZFAT_ENST00000523399.1_Missense_Mutation_p.I137S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	137					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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.I125S(1)|p.I137S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CAGCACGATAATGCAGATGTG	0.512																																					p.I137S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T410G	8						.						96.0	103.0	101.0					8																	135649742		2103	4220	6323	135718924	SO:0001583	missense	57623	exon3			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.410T>G	8.37:g.135649742A>C	ENSP00000367069:p.Ile137Ser		135718924	NM_001174157	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247176	0.59103	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.54479	2.87;2.81;2.81;2.8;2.81;2.91;0.57;1.16	5.15	5.15	0.70609	Zinc finger, C2H2 (1);	0.090074	0.49305	D	0.000141	T	0.61590	0.2359	L	0.32530	0.975	0.44946	D	0.997962	D;P;D;D	0.76494	0.993;0.728;0.999;0.998	P;B;D;D	0.85130	0.811;0.138;0.997;0.987	T	0.61312	-0.7088	10	0.40728	T	0.16	-23.2526	14.1567	0.65422	1.0:0.0:0.0:0.0	.	137;125;125;137	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	S	125;125;125;137;125;125;137;125;75;125	ENSP00000427879:I125S;ENSP00000427831:I125S;ENSP00000394501:I125S;ENSP00000367069:I137S;ENSP00000428483:I125S;ENSP00000429091:I137S;ENSP00000429983:I75S;ENSP00000428192:I125S	ENSP00000326997:I125S	I	-	2	0	ZFAT	135718924	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.365000	0.73090	1.946000	0.56461	0.459000	0.35465	ATT		0.512	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
CYP11B1	1584	broad.mit.edu	37	8	143958578	143958578	+	Silent	SNP	G	G	A	rs61751149	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:143958578G>A	ENST00000292427.4	-	3	488	c.456C>T	c.(454-456)aaC>aaT	p.N152N	CYP11B1_ENST00000377675.3_Silent_p.N223N|CYP11B1_ENST00000517471.1_Silent_p.N152N	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	152					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.N152N(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TCTGCACAGCGTTGGGCGACA	0.632									Familial Hyperaldosteronism type I																												p.N152N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	8						.	C	,	2,4404		0,2,2201	74.0	61.0	66.0		456,456	-2.7	0.0	8	dbSNP_129	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CYP11B1	NM_000497.3,NM_001026213.1	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	152/504,152/438	143958578	2,13004	2203	4300	6503	143955580	SO:0001819	synonymous_variant	1584	exon3	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.456C>T	8.37:g.143958578G>A			143955580	NM_001026213	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
TOP1MT	116447	broad.mit.edu	37	8	144391641	144391641	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:144391641G>A	ENST00000329245.4	-	14	1810	c.1776C>T	c.(1774-1776)ctC>ctT	p.L592L	TOP1MT_ENST00000519148.1_Silent_p.L494L|TOP1MT_ENST00000521193.1_Silent_p.L494L|TOP1MT_ENST00000523676.1_Silent_p.L494L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	592					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.L592L(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTGCCATGGCGAGAGCCCAGG	0.512																																					p.L592L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1776T	8						.						138.0	120.0	126.0					8																	144391641		2203	4300	6503	144463016	SO:0001819	synonymous_variant	116447	exon14			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1776C>T	8.37:g.144391641G>A			144463016	NM_052963	B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703961	0.30232	.	.	ENSG00000184428	ENST00000519977	.	.	.	3.95	-7.9	0.01169	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.38483	D	0.947772	.	.	.	.	.	.	T	0.36866	-0.9730	4	.	.	.	-5.7563	2.7464	0.05268	0.4106:0.2819:0.2132:0.0943	.	.	.	.	C	102	.	.	R	-	1	0	TOP1MT	144463016	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-1.855000	0.01663	-2.216000	0.00732	0.514000	0.50259	CGC		0.512	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963	
ARHGEF10	9639	broad.mit.edu	37	8	1808189	1808189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:1808189delC	ENST00000398564.1	+	4	392	c.392delC	c.(391-393)accfs	p.T131fs	ARHGEF10_ENST00000520359.1_Frame_Shift_Del_p.T107fs|ARHGEF10_ENST00000398560.1_Frame_Shift_Del_p.T131fs|ARHGEF10_ENST00000518288.1_Frame_Shift_Del_p.T131fs|ARHGEF10_ENST00000349830.3_Frame_Shift_Del_p.T107fs|ARHGEF10_ENST00000262112.6_Frame_Shift_Del_p.T131fs			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	131					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.V133fs*67(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)		CAGCCGCCCACCCCCGTGCCC	0.622																																					p.T107fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.320delC	8						.						134.0	118.0	123.0					8																	1808189		2203	4300	6503	1795596	SO:0001589	frameshift_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.392delC	8.37:g.1808189delC	ENSP00000381571:p.Thr131fs		1795596	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Frame_Shift_Del	DEL	ENST00000398564.1	37																																																																																					0.622	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
CSMD1	64478	broad.mit.edu	37	8	3226891	3226891	+	Splice_Site	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:3226891A>T	ENST00000520002.1	-	20	3342	c.2787T>A	c.(2785-2787)gcT>gcA	p.A929A	CSMD1_ENST00000537824.1_Splice_Site_p.A928A|CSMD1_ENST00000602557.1_Splice_Site_p.A929A|CSMD1_ENST00000400186.3_Splice_Site_p.A929A|CSMD1_ENST00000602723.1_Splice_Site_p.A929A|CSMD1_ENST00000542608.1_Splice_Site_p.A928A|CSMD1_ENST00000539096.1_Splice_Site_p.A928A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	929	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.A657A(1)|p.A928A(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCACATAGAGCTTAAAATA	0.388																																					p.S929T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2785A	8						.						46.0	43.0	44.0					8																	3226891		1831	4090	5921	3214298	SO:0001630	splice_region_variant	64478	exon19					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2786-1T>A	8.37:g.3226891A>T			3214298	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	A	0.229	-1.022849	0.02061	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40757	-0.9546	4	.	.	.	.	2.5093	0.04652	0.4662:0.2178:0.171:0.1451	.	.	.	.	T	409	.	.	S	-	1	0	CSMD1	3214298	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	-0.886000	0.04157	-2.554000	0.00477	-2.216000	0.00297	TCT		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Silent
ANGPT2	285	broad.mit.edu	37	8	6372259	6372259	+	Missense_Mutation	SNP	A	A	T	rs146771202		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:6372259A>T	ENST00000325203.5	-	6	1445	c.971T>A	c.(970-972)aTt>aAt	p.I324N	ANGPT2_ENST00000415216.1_Missense_Mutation_p.I323N|ANGPT2_ENST00000338312.6_Missense_Mutation_p.I272N|ANGPT2_ENST00000523120.1_Missense_Mutation_p.I323N|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	324	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)	p.I324N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCGCTGAATAATTGTCCACCC	0.488																																					p.I272N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T815A	8						.						161.0	172.0	168.0					8																	6372259		2203	4300	6503	6359667	SO:0001583	missense	285	exon5			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.971T>A	8.37:g.6372259A>T	ENSP00000314897:p.Ile324Asn		6359667	NM_001118888	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898561	0.72639	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.71	4.55	0.56014	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.376529	0.29508	N	0.011951	D	0.85371	0.5681	M	0.74389	2.26	0.23685	N	0.997111	P;D;P;P	0.67145	0.675;0.996;0.675;0.722	B;D;B;P	0.71414	0.443;0.973;0.443;0.578	T	0.77175	-0.2684	10	0.87932	D	0	.	8.774	0.34751	0.9045:0.0:0.0955:0.0	.	272;323;323;324	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	N	324;323;272;323	ENSP00000314897:I324N;ENSP00000400782:I323N;ENSP00000343517:I272N;ENSP00000428023:I323N	ENSP00000314897:I324N	I	-	2	0	ANGPT2	6359667	0.744000	0.28250	0.023000	0.16930	0.963000	0.63663	6.075000	0.71261	0.979000	0.38497	0.533000	0.62120	ATT		0.488	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147	
TNKS	8658	broad.mit.edu	37	8	9592951	9592951	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:9592951G>T	ENST00000310430.6	+	17	2624	c.2598G>T	c.(2596-2598)caG>caT	p.Q866H	TNKS_ENST00000518281.1_Missense_Mutation_p.Q629H	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	866					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.Q866H(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTAATGCCCAGGACAAGGGTG	0.423																																					p.Q866H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2598T	8						.						158.0	157.0	157.0					8																	9592951		2203	4300	6503	9630361	SO:0001583	missense	8658	exon17			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2598G>T	8.37:g.9592951G>T	ENSP00000311579:p.Gln866His		9630361	NM_003747	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789322	0.70337	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.65732	-0.17;-0.17	5.59	-3.32	0.04973	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	L	0.61387	1.9	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.72316	-0.4330	10	0.62326	D	0.03	.	14.067	0.64837	0.4498:0.0:0.5502:0.0	.	866	O95271	TNKS1_HUMAN	H	866;629	ENSP00000311579:Q866H;ENSP00000429890:Q629H	ENSP00000311579:Q866H	Q	+	3	2	TNKS	9630361	1.000000	0.71417	0.976000	0.42696	0.999000	0.98932	1.088000	0.30877	-0.616000	0.05671	0.650000	0.86243	CAG		0.423	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
INTS10	55174	broad.mit.edu	37	8	19694645	19694645	+	Nonsense_Mutation	SNP	C	C	A	rs377624955		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:19694645C>A	ENST00000397977.3	+	13	2011	c.1613C>A	c.(1612-1614)tCg>tAg	p.S538*		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	538					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.S538*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GAGGAACCCTCGAAAGTAAAG	0.403																																					p.S538X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1613A	8						.						113.0	110.0	111.0					8																	19694645		1858	4100	5958	19738925	SO:0001587	stop_gained	55174	exon13			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1613C>A	8.37:g.19694645C>A	ENSP00000381064:p.Ser538*		19738925	NM_018142	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Nonsense_Mutation	SNP	ENST00000397977.3	37	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	41	8.551024	0.98859	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.54	5.54	0.83059	.	0.576007	0.20091	N	0.099444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3785	18.0662	0.89391	0.0:1.0:0.0:0.0	.	.	.	.	X	538	.	ENSP00000381064:S538X	S	+	2	0	INTS10	19738925	0.156000	0.22821	0.791000	0.31998	0.393000	0.30537	3.279000	0.51670	2.607000	0.88179	0.655000	0.94253	TCG		0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	
NUGGC	389643	broad.mit.edu	37	8	27886884	27886884	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:27886884G>A	ENST00000413272.2	-	17	2195	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	NUGGC_ENST00000341513.6_Missense_Mutation_p.R685W	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	685					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R685W(1)									TCTTTCATCCGCTCACACGCT	0.522																																					p.R685W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2053T	8						.						63.0	64.0	63.0					8																	27886884		2007	4182	6189	27942803	SO:0001583	missense	389643	exon17			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2053C>T	8.37:g.27886884G>A	ENSP00000408697:p.Arg685Trp		27942803	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715786	0.48622	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.28069	1.63;1.63	5.56	1.59	0.23543	.	0.108390	0.64402	D	0.000007	T	0.34048	0.0884	L	0.32530	0.975	0.41628	D	0.989003	D	0.71674	0.998	P	0.56648	0.803	T	0.21552	-1.0242	10	0.87932	D	0	-21.866	10.717	0.46019	0.0:0.0:0.4438:0.5562	.	685	Q68CJ6	SLIP_HUMAN	W	685	ENSP00000408697:R685W;ENSP00000345031:R685W	ENSP00000345031:R685W	R	-	1	2	C8orf80	27942803	0.974000	0.33945	0.963000	0.40424	0.170000	0.22686	0.109000	0.15417	0.946000	0.37632	-0.262000	0.10625	CGG		0.522	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
TEX15	56154	broad.mit.edu	37	8	30705874	30705874	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:30705874A>G	ENST00000256246.2	-	1	734	c.660T>C	c.(658-660)ttT>ttC	p.F220F	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	220					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.F220F(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)		TTTTGAGTGGAAAAACTGTAG	0.358																																					p.F220F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T660C	8						.						56.0	61.0	59.0					8																	30705874		2203	4300	6503	30825416	SO:0001819	synonymous_variant	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.660T>C	8.37:g.30705874A>G			30825416	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PXDNL	137902	broad.mit.edu	37	8	52258474	52258474	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:52258474G>A	ENST00000356297.4	-	20	4035	c.3935C>T	c.(3934-3936)aCg>aTg	p.T1312M	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1312					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T1312M(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGACTCTTGCGTCACTGCTCT	0.408																																					p.T1312M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3935T	8						.						151.0	140.0	144.0					8																	52258474		1965	4158	6123	52421027	SO:0001583	missense	137902	exon20				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3935C>T	8.37:g.52258474G>A	ENSP00000348645:p.Thr1312Met		52421027	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.06|13.06	2.122934|2.122934	0.37436|0.37436	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.65364	.|-0.15	3.71|3.71	1.86|1.86	0.25419|0.25419	.|.	.|.	.|.	.|.	.|.	T|T	0.49098|0.49098	0.1537|0.1537	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|D	.|0.63880	.|0.993	.|P	.|0.54346	.|0.749	T|T	0.35076|0.35076	-0.9803|-0.9803	5|9	.|0.45353	.|T	.|0.12	.|.	6.0102|6.0102	0.19571|0.19571	0.2561:0.0:0.7439:0.0|0.2561:0.0:0.7439:0.0	.|.	.|1312	.|A1KZ92	.|PXDNL_HUMAN	C|M	386|1312	.|ENSP00000348645:T1312M	.|ENSP00000348645:T1312M	R|T	-|-	1|2	0|0	PXDNL|PXDNL	52421027|52421027	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.876000|0.876000	0.28092|0.28092	0.098000|0.098000	0.17522|0.17522	0.467000|0.467000	0.42956|0.42956	CGC|ACG		0.408	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
PLAG1	5324	broad.mit.edu	37	8	57080786	57080786	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:57080786T>C	ENST00000316981.3	-	4	522	c.43A>G	c.(43-45)Acc>Gcc	p.T15A	PLAG1_ENST00000429357.2_Missense_Mutation_p.T15A|PLAG1_ENST00000423799.2_Intron	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	15	Interacts with KPNA2.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T15A(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ACTTTCTGGGTATCTCTTACT	0.463			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																p.T15A			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A43G	8						.						107.0	97.0	101.0					8																	57080786		2203	4300	6503	57243340	SO:0001583	missense	5324	exon3			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.43A>G	8.37:g.57080786T>C	ENSP00000325546:p.Thr15Ala		57243340	NM_001114634	B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935685	0.34189	.	.	ENSG00000181690	ENST00000316981;ENST00000429357	T;T	0.11385	2.78;2.78	5.36	5.36	0.76844	.	0.246350	0.41823	D	0.000816	T	0.07188	0.0182	N	0.08118	0	0.42876	D	0.994154	B	0.11235	0.004	B	0.06405	0.002	T	0.28808	-1.0032	10	0.46703	T	0.11	-11.3164	15.6431	0.77025	0.0:0.0:0.0:1.0	.	15	Q6DJT9	PLAG1_HUMAN	A	15	ENSP00000325546:T15A;ENSP00000416537:T15A	ENSP00000325546:T15A	T	-	1	0	PLAG1	57243340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.611000	0.61162	2.132000	0.65825	0.460000	0.39030	ACC		0.463	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655	
LACTB2	51110	broad.mit.edu	37	8	71573997	71573997	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:71573997T>C	ENST00000276590.4	-	2	294	c.258A>G	c.(256-258)atA>atG	p.I86M	RP11-382J12.1_ENST00000499227.2_3'UTR|LACTB2_ENST00000522447.1_Missense_Mutation_p.I86M	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	86						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.I86M(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AAATATCTCCTATGCCTCCAG	0.373																																					p.I86M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A258G	8						.						208.0	190.0	196.0					8																	71573997		2203	4300	6503	71736551	SO:0001583	missense	51110	exon2			AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.258A>G	8.37:g.71573997T>C	ENSP00000276590:p.Ile86Met		71736551	NM_016027	A8K2D6|Q9Y392	Missense_Mutation	SNP	ENST00000276590.4	37	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401605	0.62288	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.80480	-1.38;-1.38	5.91	3.5	0.40072	Beta-lactamase-like (2);	0.043967	0.85682	D	0.000000	D	0.85164	0.5634	M	0.64567	1.98	0.54753	D	0.999982	D	0.64830	0.994	D	0.67900	0.954	T	0.83283	-0.0037	10	0.62326	D	0.03	-13.4806	7.729	0.28775	0.2417:0.0:0.1263:0.632	.	86	Q53H82	LACB2_HUMAN	M	86	ENSP00000428801:I86M;ENSP00000276590:I86M	ENSP00000276590:I86M	I	-	3	3	LACTB2	71736551	0.163000	0.22920	0.582000	0.28627	0.949000	0.60115	0.506000	0.22658	0.471000	0.27319	0.533000	0.62120	ATA		0.373	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027	
ZFHX4	79776	broad.mit.edu	37	8	77767406	77767406	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:77767406C>A	ENST00000521891.2	+	10	8697	c.8249C>A	c.(8248-8250)tCt>tAt	p.S2750Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2724Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2705Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2705Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S2734Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAATTGGCTTCTACAGTGTCA	0.388										HNSCC(33;0.089)																											p.S2750Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8249A	8						.						70.0	67.0	68.0					8																	77767406		1849	4102	5951	77929961	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8249C>A	8.37:g.77767406C>A	ENSP00000430497:p.Ser2750Tyr		77929961	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266813	0.23136	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55052	0.54;0.59;0.56;0.55	5.13	5.13	0.70059	.	0.000000	0.44097	U	0.000497	T	0.64260	0.2582	L	0.43152	1.355	0.52501	D	0.999957	D;D;D	0.64830	0.989;0.994;0.994	D;D;D	0.74348	0.943;0.975;0.983	T	0.55296	-0.8163	10	0.15952	T	0.53	.	18.7617	0.91855	0.0:1.0:0.0:0.0	.	2705;2705;2750	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2750;2734;2705;2705;2724	ENSP00000430497:S2750Y;ENSP00000399605:S2705Y;ENSP00000050961:S2705Y;ENSP00000430848:S2724Y	ENSP00000050961:S2705Y	S	+	2	0	ZFHX4	77929961	1.000000	0.71417	0.940000	0.37924	0.078000	0.17371	7.651000	0.83577	2.675000	0.91044	0.555000	0.69702	TCT		0.388	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
FABP4	2167	broad.mit.edu	37	8	82392798	82392798	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:82392798C>T	ENST00000256104.4	-	2	204	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	37					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.A37T(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			TTAGGTTTGGCCATGCCAGCC	0.418																																					p.A37T	NSCLC(35;550 1252 19644 48360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	8						.						77.0	71.0	73.0					8																	82392798		2203	4300	6503	82555353	SO:0001583	missense	2167	exon2			J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.109G>A	8.37:g.82392798C>T	ENSP00000256104:p.Ala37Thr		82555353	NM_001442	Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787918	0.90367	.	.	ENSG00000170323	ENST00000256104	T	0.06933	3.24	5.25	5.25	0.73442	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.163089	0.53938	D	0.000042	T	0.08268	0.0206	L	0.27944	0.81	0.43688	D	0.996132	P	0.45594	0.862	P	0.48063	0.565	T	0.24512	-1.0158	10	0.07482	T	0.82	.	12.3721	0.55260	0.0:0.9234:0.0:0.0766	.	37	P15090	FABP4_HUMAN	T	37	ENSP00000256104:A37T	ENSP00000256104:A37T	A	-	1	0	FABP4	82555353	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.858000	0.48356	2.733000	0.93635	0.655000	0.94253	GCC		0.418	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442	
ATP6V0D2	245972	broad.mit.edu	37	8	87126109	87126109	+	Splice_Site	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:87126109C>T	ENST00000285393.3	+	2	444	c.302C>T	c.(301-303)aCg>aTg	p.T101M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	101					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)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.T101M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACCTATATGACGTAAGTGATG	0.453																																					p.T101M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C302T	8						.						90.0	91.0	91.0					8																	87126109		2203	4300	6503	87195225	SO:0001630	splice_region_variant	245972	exon2			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.302+1C>T	8.37:g.87126109C>T			87195225	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097648	0.76870	.	.	ENSG00000147614	ENST00000285393	T	0.33654	1.4	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76694	-0.2865	10	0.87932	D	0	-2.781	16.8197	0.85742	0.0:1.0:0.0:0.0	.	101	Q8N8Y2	VA0D2_HUMAN	M	101	ENSP00000285393:T101M	ENSP00000285393:T101M	T	+	2	0	ATP6V0D2	87195225	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	6.044000	0.71012	2.839000	0.97877	0.644000	0.83932	ACG		0.453	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Missense_Mutation
SLC26A7	115111	broad.mit.edu	37	8	92401666	92401666	+	Splice_Site	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:92401666G>A	ENST00000276609.3	+	16	2015	c.1776G>A	c.(1774-1776)gaG>gaA	p.E592E	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Splice_Site_p.E592E|SLC26A7_ENST00000523719.1_Splice_Site_p.E592E	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.E592E(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)			TGCTTGTTGAGGTATTTATGG	0.408																																					p.E592E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1776A	8						.						272.0	243.0	253.0					8																	92401666		2203	4300	6503	92470842	SO:0001630	splice_region_variant	115111	exon16			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.1776+1G>A	8.37:g.92401666G>A			92470842	NM_134266		Silent	SNP	ENST00000276609.3	37	CCDS6254.1																																																																																				0.408	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		Silent
CCNE2	9134	broad.mit.edu	37	8	95895100	95895100	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:95895100T>C	ENST00000520509.1	-	10	1104	c.852A>G	c.(850-852)ctA>ctG	p.L284L	CCNE2_ENST00000523476.1_5'Flank|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000396133.3_Silent_p.L284L|CCNE2_ENST00000308108.4_Silent_p.L284L			O96020	CCNE2_HUMAN	cyclin E2	284					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.L284L(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					AATCAATGGCTAGAATACACA	0.383																																					p.L284L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A852G	8						.						113.0	108.0	110.0					8																	95895100		2203	4300	6503	95964276	SO:0001819	synonymous_variant	9134	exon10			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.852A>G	8.37:g.95895100T>C			95964276	NM_057749	O95439	Silent	SNP	ENST00000520509.1	37	CCDS6264.1																																																																																				0.383	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702	
ERICH5	203111	broad.mit.edu	37	8	99101827	99101827	+	Silent	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:99101827T>C	ENST00000318528.3	+	2	941	c.582T>C	c.(580-582)gtT>gtC	p.V194V	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		194								p.V194V(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CTGAGAACGTTCTGACTCTGC	0.498																																					p.V194V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T582C	8						.						34.0	35.0	34.0					8																	99101827		2203	4300	6503	99171003	SO:0001819	synonymous_variant	203111	exon2																														ENST00000318528.3:c.582T>C	8.37:g.99101827T>C			99171003	NM_173549	G3V1K4|Q8N1L8	Silent	SNP	ENST00000318528.3	37	CCDS34929.1																																																																																				0.498	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1		
POP1	10940	broad.mit.edu	37	8	99139954	99139954	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:99139954G>A	ENST00000401707.2	+	3	355	c.274G>A	c.(274-276)Gag>Aag	p.E92K	POP1_ENST00000349693.3_Missense_Mutation_p.E92K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	92					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.E92K(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGCAGGTCCCGAGGGCACGTC	0.483																																					p.E92K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G274A	8						.						101.0	100.0	101.0					8																	99139954		2203	4300	6503	99209130	SO:0001583	missense	10940	exon3			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.274G>A	8.37:g.99139954G>A	ENSP00000385787:p.Glu92Lys		99209130	NM_001145860	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333371	0.60853	.	.	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	T;T;T	0.43294	0.95;1.28;1.28	6.08	5.19	0.71726	.	0.281738	0.34507	N	0.003902	T	0.28499	0.0705	L	0.29908	0.895	0.30800	N	0.739998	B	0.18741	0.03	B	0.08055	0.003	T	0.11842	-1.0571	10	0.13108	T	0.6	-12.8071	12.277	0.54741	0.0:0.2493:0.7507:0.0	.	92	Q99575	POP1_HUMAN	K	92	ENSP00000428945:E92K;ENSP00000385787:E92K;ENSP00000339529:E92K	ENSP00000339529:E92K	E	+	1	0	POP1	99209130	0.995000	0.38212	0.887000	0.34795	0.750000	0.42670	3.015000	0.49599	2.894000	0.99253	0.591000	0.81541	GAG		0.483	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
GPAA1	8733	broad.mit.edu	37	8	145139460	145139460	+	Missense_Mutation	SNP	C	C	T	rs369617537		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr8:145139460C>T	ENST00000355091.4	+	7	1079	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	GPAA1_ENST00000361036.6_Missense_Mutation_p.R260C|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	320					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.R320C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTAACCCTGCGTGGCATCAA	0.627																																					p.R320C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C958T	8						.						51.0	54.0	53.0					8																	145139460		2020	4165	6185	145211448	SO:0001583	missense	8733	exon7			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.958C>T	8.37:g.145139460C>T	ENSP00000347206:p.Arg320Cys		145211448	NM_003801	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507164	0.64410	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036	.	.	.	5.01	5.01	0.66863	.	0.135146	0.49305	D	0.000147	T	0.77903	0.4200	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.69824	0.926;0.966	T	0.79313	-0.1855	9	0.49607	T	0.09	-9.5793	15.8202	0.78633	0.0:1.0:0.0:0.0	.	320;260	O43292;O43292-2	GPAA1_HUMAN;.	C	320;248;260	.	ENSP00000347206:R320C	R	+	1	0	GPAA1	145211448	0.996000	0.38824	0.862000	0.33874	0.963000	0.63663	3.445000	0.52921	2.319000	0.78375	0.561000	0.74099	CGT		0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	
TBC1D2	55357	broad.mit.edu	37	9	100971150	100971150	+	Silent	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:100971150G>T	ENST00000375064.1	-	9	1988	c.1950C>A	c.(1948-1950)ggC>ggA	p.G650G	TBC1D2_ENST00000342112.5_Silent_p.G432G|TBC1D2_ENST00000375066.5_Silent_p.G650G|TBC1D2_ENST00000375063.1_Silent_p.G190G|TBC1D2_ENST00000493589.2_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	650	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.G650G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTGGTAGCAGCCTGGAGTGT	0.647																																					p.G650G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1950A	9						.						68.0	70.0	69.0					9																	100971150		2203	4299	6502	100010971	SO:0001819	synonymous_variant	55357	exon9			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1950C>A	9.37:g.100971150G>T			100010971	NM_018421	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37																																																																																					0.647	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
GRIN3A	116443	broad.mit.edu	37	9	104335628	104335628	+	Missense_Mutation	SNP	C	C	T	rs199945164		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:104335628C>T	ENST00000361820.3	-	9	3776	c.3176G>A	c.(3175-3177)cGg>cAg	p.R1059Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1059					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.R1059Q(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)	ATTGGTGGTCCGCAAGGCAGG	0.527													A|||	1	0.000199681	0.0	0.0	5008	,	,		20403	0.001		0.0	False		,,,				2504	0.0				p.R1059Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3176A	9						.						123.0	112.0	116.0					9																	104335628		2203	4300	6503	103375449	SO:0001583	missense	116443	exon9				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.3176G>A	9.37:g.104335628C>T	ENSP00000355155:p.Arg1059Gln		103375449	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	22.4	4.282755	0.80692	.	.	ENSG00000198785	ENST00000361820	T	0.09817	2.94	5.38	4.24	0.50183	.	1.055380	0.07504	N	0.907779	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.41106	-0.9527	10	0.72032	D	0.01	.	8.4598	0.32921	0.7997:0.132:0.0683:0.0	.	1059	Q8TCU5	NMD3A_HUMAN	Q	1059	ENSP00000355155:R1059Q	ENSP00000355155:R1059Q	R	-	2	0	GRIN3A	103375449	0.996000	0.38824	0.926000	0.36857	0.566000	0.35808	2.611000	0.46334	0.442000	0.26555	-0.256000	0.11100	CGG		0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
OR13F1	138805	broad.mit.edu	37	9	107266780	107266780	+	Silent	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:107266780T>A	ENST00000334726.2	+	1	326	c.237T>A	c.(235-237)tcT>tcA	p.S79S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S79S(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCCTCTCTCCAATGCTGG	0.507																																					p.S79S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T237A	9						.						161.0	142.0	149.0					9																	107266780		2203	4300	6503	106306601	SO:0001819	synonymous_variant	138805	exon1				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.237T>A	9.37:g.107266780T>A			106306601	NM_001004485	Q6IF50	Silent	SNP	ENST00000334726.2	37	CCDS35087.1																																																																																				0.507	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1		
PALM2	114299	broad.mit.edu	37	9	112694255	112694255	+	Intron	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:112694255G>A	ENST00000374531.2	+	6	474				PALM2_ENST00000314527.4_Missense_Mutation_p.C148Y|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.C150Y|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.C148Y|AKAP2_ENST00000555236.1_Missense_Mutation_p.C148Y|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.C148Y|AKAP2_ENST00000510514.5_Missense_Mutation_p.C148Y	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.C148Y(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCAATCCTCTGTTCACGAACA	0.547																																					p.C148Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443A	9						.						141.0	137.0	138.0					9																	112694255		2203	4300	6503	111734076	SO:0001627	intron_variant	445815	exon6			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6893G>A	9.37:g.112694255G>A			111734076	NM_147150	A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658235	0.29425	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T	0.27720	2.34;2.34;1.65;2.43;2.34;2.42;2.43;2.42	6.17	-1.94	0.07571	.	0.336035	0.23310	N	0.049571	T	0.11410	0.0278	N	0.04508	-0.205	0.25074	N	0.990971	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.15578	-1.0432	10	0.87932	D	0	1.2142	5.9815	0.19409	0.5185:0.2953:0.1862:0.0	.	148;148;150	Q9Y2D5-6;Q9Y2D5-4;D3YTA4	.;.;.	Y	150;148;134;148;148;148;148;148	ENSP00000400206:C150Y;ENSP00000323805:C148Y;ENSP00000419747:C134Y;ENSP00000363654:C148Y;ENSP00000397839:C148Y;ENSP00000305861:C148Y;ENSP00000451476:C148Y;ENSP00000421522:C148Y	ENSP00000305861:C148Y	C	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111734076	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	1.931000	0.40134	-0.171000	0.10797	0.655000	0.94253	TGT		0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293	
SVEP1	79987	broad.mit.edu	37	9	113221366	113221366	+	Missense_Mutation	SNP	C	C	T	rs375405158		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:113221366C>T	ENST00000401783.2	-	19	3686	c.3350G>A	c.(3349-3351)cGt>cAt	p.R1117H	SVEP1_ENST00000374469.1_Missense_Mutation_p.R1094H|SVEP1_ENST00000302728.8_Missense_Mutation_p.R1117H|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1117					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.R1117H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAACCCAGAACGCGAGAATTT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19604	0.0		0.0	False		,,,				2504	0.001				p.R1117H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3350A	9						.	C	HIS/ARG	1,3811		0,1,1905	130.0	126.0	127.0		3350	5.6	1.0	9		127	0,8236		0,0,4118	no	missense	SVEP1	NM_153366.3	29	0,1,6023	TT,TC,CC		0.0,0.0262,0.0083	probably-damaging	1117/3572	113221366	1,12047	1906	4118	6024	112261187	SO:0001583	missense	79987	exon19			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3350G>A	9.37:g.113221366C>T	ENSP00000384917:p.Arg1117His		112261187	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845391	0.91197	2.62E-4	0.0	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.15487	2.42;2.42;2.42	5.6	5.6	0.85130	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	L	0.54323	1.7	0.51012	D	0.999907	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.07462	-1.0771	10	0.59425	D	0.04	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	1117;1117	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	H	1117;1094;1117	ENSP00000384917:R1117H;ENSP00000363593:R1094H;ENSP00000304118:R1117H	ENSP00000304118:R1117H	R	-	2	0	SVEP1	112261187	1.000000	0.71417	0.982000	0.44146	0.648000	0.38561	7.438000	0.80431	2.630000	0.89119	0.591000	0.81541	CGT		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
KIAA1958	158405	broad.mit.edu	37	9	115421642	115421642	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:115421642C>T	ENST00000337530.6	+	4	1740	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R510C	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	482								p.R482C(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCATGCTATTCGCCGAGGCCT	0.557																																					p.R482C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1444T	9						.						53.0	50.0	51.0					9																	115421642		2203	4300	6503	114461463	SO:0001583	missense	158405	exon4			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1444C>T	9.37:g.115421642C>T	ENSP00000336940:p.Arg482Cys		114461463	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671195	0.67814	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	T	0.43688	0.94	5.37	5.37	0.77165	.	.	.	.	.	T	0.39759	0.1090	N	0.14661	0.345	0.35569	D	0.805343	D;D	0.76494	0.999;0.997	P;P	0.51657	0.676;0.676	T	0.48258	-0.9051	9	0.36615	T	0.2	.	18.7126	0.91662	0.0:1.0:0.0:0.0	.	510;482	B7ZKW6;Q8N8K9	.;K1958_HUMAN	C	482;510	ENSP00000336940:R482C	ENSP00000336940:R482C	R	+	1	0	KIAA1958	114461463	0.837000	0.29446	0.998000	0.56505	0.994000	0.84299	1.403000	0.34612	2.512000	0.84698	0.655000	0.94253	CGC		0.557	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
HDHD3	81932	broad.mit.edu	37	9	116136612	116136612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:116136612C>T	ENST00000238379.5	-	2	920	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	HDHD3_ENST00000374180.3_Missense_Mutation_p.R8Q|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	8						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.R8Q(1)		large_intestine(2)|liver(1)	3						CGTCAGCAGTCGTATCTGCAG	0.652																																					p.R8Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23A	9						.						42.0	30.0	34.0					9																	116136612		2203	4300	6503	115176433	SO:0001583	missense	81932	exon2			AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.23G>A	9.37:g.116136612C>T	ENSP00000238379:p.Arg8Gln		115176433	NM_031219	B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598887	0.66332	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.45276	0.9;0.9	5.48	2.67	0.31697	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.060257	0.64402	N	0.000002	T	0.38746	0.1052	M	0.83483	2.645	0.80722	D	1	P	0.38827	0.649	B	0.24155	0.051	T	0.33675	-0.9859	10	0.35671	T	0.21	-5.6094	11.6139	0.51078	0.0:0.8363:0.0:0.1637	.	8	Q9BSH5	HDHD3_HUMAN	Q	8	ENSP00000238379:R8Q;ENSP00000363295:R8Q	ENSP00000238379:R8Q	R	-	2	0	HDHD3	115176433	1.000000	0.71417	0.414000	0.26521	0.937000	0.57800	1.030000	0.30153	0.390000	0.25115	0.655000	0.94253	CGA		0.652	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219	
DFNB31	25861	broad.mit.edu	37	9	117185715	117185715	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:117185715G>A	ENST00000362057.3	-	7	1673	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	DFNB31_ENST00000374059.3_Missense_Mutation_p.S151F|DFNB31_ENST00000265134.6_Missense_Mutation_p.S119F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	502					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.S502F(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCTTCATGGACTCAATCTC	0.637																																					p.S502F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	9						.						87.0	84.0	85.0					9																	117185715		2203	4300	6503	116225536	SO:0001583	missense	25861	exon7			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1505C>T	9.37:g.117185715G>A	ENSP00000354623:p.Ser502Phe		116225536	NM_015404	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290416	0.59976	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.08720	3.93;3.9;3.06	5.3	5.3	0.74995	.	0.129596	0.53938	D	0.000057	T	0.25269	0.0614	M	0.70595	2.14	0.80722	D	1	D;B;B	0.69078	0.997;0.206;0.182	D;B;B	0.64506	0.926;0.063;0.11	T	0.00238	-1.1889	10	0.54805	T	0.06	-22.5937	13.2784	0.60200	0.0759:0.0:0.9241:0.0	.	502;502;151	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	F	119;151;502	ENSP00000265134:S119F;ENSP00000363172:S151F;ENSP00000354623:S502F	ENSP00000265134:S119F	S	-	2	0	DFNB31	116225536	1.000000	0.71417	0.950000	0.38849	0.981000	0.71138	4.975000	0.63777	2.486000	0.83907	0.555000	0.69702	TCC		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404	
DAB2IP	153090	broad.mit.edu	37	9	124528833	124528833	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:124528833C>T	ENST00000408936.3	+	9	1703	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	DAB2IP_ENST00000259371.2_Silent_p.R479R|DAB2IP_ENST00000309989.1_Silent_p.R383R			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	507	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R383R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCAGCAGTCGCGGCCGCCCGG	0.617																																					p.R479R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1437T	9						.						71.0	63.0	65.0					9																	124528833		2203	4300	6503	123568654	SO:0001819	synonymous_variant	153090	exon9			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1521C>T	9.37:g.124528833C>T			123568654	NM_032552	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37																																																																																					0.617	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
OR1N1	138883	broad.mit.edu	37	9	125288781	125288781	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:125288781G>A	ENST00000304880.2	-	1	791	c.792C>T	c.(790-792)gcC>gcT	p.A264A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCTCTTCAGAGGCAATGGAGG	0.522																																					p.A264A												.	.	0			c.C792T	9						.						110.0	98.0	102.0					9																	125288781		2203	4300	6503	124328602	SO:0001819	synonymous_variant	138883	exon1			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.792C>T	9.37:g.125288781G>A			124328602	NM_012363	A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	CCDS6844.1																																																																																				0.522	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1		
ZBTB6	10773	broad.mit.edu	37	9	125673667	125673667	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:125673667C>A	ENST00000373659.3	-	2	773	c.685G>T	c.(685-687)Ggt>Tgt	p.G229C		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	229					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.G229C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TTTTCGACACCAGCTGTACTG	0.388																																					p.G229C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G685T	9						.						72.0	69.0	70.0					9																	125673667		2203	4300	6503	124713488	SO:0001583	missense	10773	exon2			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.685G>T	9.37:g.125673667C>A	ENSP00000362763:p.Gly229Cys		124713488	NM_006626	A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	9.295	1.051527	0.19827	.	.	ENSG00000186130	ENST00000373659	T	0.09073	3.02	6.17	1.85	0.25348	.	0.518106	0.18151	N	0.150081	T	0.06600	0.0169	N	0.22421	0.69	0.09310	N	1	B	0.28760	0.221	B	0.33196	0.159	T	0.32666	-0.9898	10	0.62326	D	0.03	.	8.1844	0.31330	0.0:0.5432:0.0:0.4568	.	229	Q15916	ZBTB6_HUMAN	C	229	ENSP00000362763:G229C	ENSP00000362763:G229C	G	-	1	0	ZBTB6	124713488	0.000000	0.05858	0.079000	0.20413	0.714000	0.41099	0.093000	0.15086	0.500000	0.27991	0.655000	0.94253	GGT		0.388	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626	
NEK6	10783	broad.mit.edu	37	9	127089661	127089661	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:127089661A>C	ENST00000320246.5	+	7	704	c.559A>C	c.(559-561)Aag>Cag	p.K187Q	NEK6_ENST00000540326.1_Missense_Mutation_p.K205Q|NEK6_ENST00000545174.1_Missense_Mutation_p.K187Q|NEK6_ENST00000394199.2_Missense_Mutation_p.K221Q|NEK6_ENST00000373600.3_Missense_Mutation_p.K221Q|NEK6_ENST00000539416.1_Missense_Mutation_p.K212Q|NEK6_ENST00000546191.1_Missense_Mutation_p.K187Q|NEK6_ENST00000373603.1_Missense_Mutation_p.K187Q	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	187	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.K180Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GGGCGTCGTGAAGCTCGGTGA	0.637																																					p.K205Q	NSCLC(122;934 1785 18647 44295 45571)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A613C	9						.						251.0	222.0	232.0					9																	127089661		2203	4300	6503	126129482	SO:0001583	missense	10783	exon7			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.559A>C	9.37:g.127089661A>C	ENSP00000319734:p.Lys187Gln		126129482	NM_001166167	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119715	0.94385	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58358	2.43;2.43;2.43;2.43;2.43;1.1;0.34;2.43;1.1;2.43;2.43;1.1;2.43	5.95	5.95	0.96441	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	T	0.77177	0.4092	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.81320	-0.0986	10	0.62326	D	0.03	.	15.5971	0.76595	1.0:0.0:0.0:0.0	.	212;221;187;205	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	Q	187;205;221;187;119;187;187;119;187;187;221;187;187;212	ENSP00000362705:K187Q;ENSP00000441469:K205Q;ENSP00000362702:K221Q;ENSP00000319734:K187Q;ENSP00000442636:K187Q;ENSP00000389517:K187Q;ENSP00000405215:K119Q;ENSP00000362698:K187Q;ENSP00000403087:K187Q;ENSP00000377749:K221Q;ENSP00000441426:K187Q;ENSP00000411401:K187Q;ENSP00000439651:K212Q	ENSP00000319734:K187Q	K	+	1	0	NEK6	126129482	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.773000	0.91762	2.279000	0.76181	0.533000	0.62120	AAG		0.637	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397	
HSPA5	3309	broad.mit.edu	37	9	128001607	128001607	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:128001607C>T	ENST00000324460.6	-	5	812	c.609G>A	c.(607-609)acG>acA	p.T203T	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	203					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.T203T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TAGCAGCTGCCGTACTATTAG	0.453										Prostate(1;0.17)																											p.T203T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G609A	9						.						60.0	65.0	63.0					9																	128001607		2203	4300	6503	127041428	SO:0001819	synonymous_variant	3309	exon5				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.609G>A	9.37:g.128001607C>T			127041428	NM_005347	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	CCDS6863.1																																																																																				0.453	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1		
GOLGA2	2801	broad.mit.edu	37	9	131028581	131028581	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:131028581C>T	ENST00000421699.2	-	8	597	c.585G>A	c.(583-585)acG>acA	p.T195T	GOLGA2_ENST00000609374.1_Silent_p.T183T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	195					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.T183T(2)		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						CCAACTGATCCGTAATTTCTT	0.502																																					p.T195T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G585A	9						.						131.0	125.0	127.0					9																	131028581		2203	4300	6503	130068402	SO:0001819	synonymous_variant	2801	exon8			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.585G>A	9.37:g.131028581C>T			130068402	NM_004486	Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	0.151	-1.090965	0.01858	.	.	ENSG00000167110	ENST00000458730	.	.	.	5.33	2.52	0.30459	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.43930	D	0.996589	.	.	.	.	.	.	T	0.49854	-0.8895	4	.	.	.	.	8.6305	0.33917	0.0:0.7094:0.0:0.2906	.	.	.	.	R	128	.	.	G	-	1	0	GOLGA2	130068402	0.818000	0.29161	0.185000	0.23176	0.023000	0.10783	1.367000	0.34204	0.345000	0.23873	0.558000	0.71614	GGA		0.502	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486	
SPTAN1	6709	broad.mit.edu	37	9	131344999	131344999	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:131344999C>T	ENST00000372731.4	+	14	1787	c.1677C>T	c.(1675-1677)caC>caT	p.H559H	SPTAN1_ENST00000372739.3_Silent_p.H559H|SPTAN1_ENST00000358161.5_Silent_p.H559H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	559					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.H559H(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGCCCTTCACGAGAGAGCCA	0.517																																					p.H559H	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1677T	9						.						85.0	87.0	86.0					9																	131344999		2203	4300	6503	130384820	SO:0001819	synonymous_variant	6709	exon14			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1677C>T	9.37:g.131344999C>T			130384820	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	CCDS6905.1																																																																																				0.517	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
SPTAN1	6709	broad.mit.edu	37	9	131346595	131346595	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:131346595A>C	ENST00000372731.4	+	17	2338	c.2228A>C	c.(2227-2229)cAg>cCg	p.Q743P	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q743P|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q743P	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	743					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q743P(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGGCCCGCCAGTTCCAAGAT	0.493																																					p.Q743P	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2228C	9						.						50.0	53.0	52.0					9																	131346595		2203	4300	6503	130386416	SO:0001583	missense	6709	exon17			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2228A>C	9.37:g.131346595A>C	ENSP00000361816:p.Gln743Pro		130386416	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932945	0.73442	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.52295	0.67;0.67;0.67	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	M	0.85041	2.73	0.80722	D	1	D;D;P;D;P	0.63880	0.968;0.968;0.929;0.993;0.92	D;D;P;D;P	0.70487	0.954;0.969;0.662;0.939;0.781	T	0.73877	-0.3844	10	0.49607	T	0.09	.	13.3778	0.60750	1.0:0.0:0.0:0.0	.	743;743;743;743;743	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	P	743	ENSP00000350882:Q743P;ENSP00000361816:Q743P;ENSP00000361824:Q743P	ENSP00000350882:Q743P	Q	+	2	0	SPTAN1	130386416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.890000	0.92477	2.097000	0.63578	0.459000	0.35465	CAG		0.493	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
RAPGEF1	2889	broad.mit.edu	37	9	134459763	134459763	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:134459763C>A	ENST00000372189.3	-	21	2914	c.2791G>T	c.(2791-2793)Gcc>Tcc	p.A931S	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.A948S|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A949S	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	931	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.A949S(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAGAGGATGGCCAAGTAGGAG	0.667																																					p.A949S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2845T	9						.						33.0	38.0	36.0					9																	134459763		2008	4174	6182	133449584	SO:0001583	missense	2889	exon21			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2791G>T	9.37:g.134459763C>A	ENSP00000361263:p.Ala931Ser		133449584	NM_198679	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852809	0.91355	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.46819	0.86;0.86;0.86	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.70787	2.145	0.80722	D	1	D;D	0.58970	0.984;0.98	P;P	0.57152	0.814;0.717	T	0.61093	-0.7132	10	0.33940	T	0.23	.	18.2197	0.89897	0.0:1.0:0.0:0.0	.	931;949	Q13905;Q13905-3	RPGF1_HUMAN;.	S	931;948;877;931;949;911;909;948	ENSP00000361269:A948S;ENSP00000361263:A931S;ENSP00000361264:A949S	ENSP00000266110:A931S	A	-	1	0	RAPGEF1	133449584	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.440000	0.80464	2.610000	0.88304	0.555000	0.69702	GCC		0.667	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
RAPGEF1	2889	broad.mit.edu	37	9	134497285	134497285	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:134497285C>A	ENST00000372189.3	-	11	1875	c.1752G>T	c.(1750-1752)aaG>aaT	p.K584N	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.K601N|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K602N	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	584					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.K602N(1)|p.K279N(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCATGAGGAGCTTGTTCTTCT	0.622																																					p.K602N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1806T	9						.						67.0	81.0	76.0					9																	134497285		2100	4216	6316	133487106	SO:0001583	missense	2889	exon11			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1752G>T	9.37:g.134497285C>A	ENSP00000361263:p.Lys584Asn		133487106	NM_198679	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.220357|4.220357	0.79464|0.79464	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686|ENST00000419442	T;T;T|.	0.27256|.	1.68;1.69;1.69|.	5.57|5.57	4.48|4.48	0.54585|0.54585	.|.	0.145915|.	0.64402|.	D|.	0.000010|.	T|T	0.62792|0.62792	0.2457|0.2457	L|L	0.59436|0.59436	1.845|1.845	0.37578|0.37578	D|D	0.919681|0.919681	P;P;D;D;D;D;D|.	0.63046|.	0.51;0.675;0.972;0.992;0.972;0.972;0.983|.	B;B;P;P;P;P;P|.	0.61800|.	0.354;0.265;0.786;0.891;0.786;0.786;0.894|.	T|T	0.64706|0.64706	-0.6344|-0.6344	10|5	0.21014|.	T|.	0.42|.	.|.	10.858|10.858	0.46810|0.46810	0.0:0.8401:0.0:0.1599|0.0:0.8401:0.0:0.1599	.|.	279;42;564;545;601;584;602|.	E9PDT1;Q5JUE7;C9JL20;Q13905-2;Q68DL3;Q13905;Q13905-3|.	.;.;.;.;.;RPGF1_HUMAN;.|.	N|I	584;601;478;584;602;564;510;279;601|43	ENSP00000361269:K601N;ENSP00000361263:K584N;ENSP00000361264:K602N|.	ENSP00000266110:K584N|.	K|S	-|-	3|2	2|0	RAPGEF1|RAPGEF1	133487106|133487106	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.975000|0.975000	0.68041|0.68041	1.816000|1.816000	0.38992|0.38992	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	AAG|AGC		0.622	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
NTNG2	84628	broad.mit.edu	37	9	135073825	135073825	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:135073825A>C	ENST00000393229.3	+	3	1462	c.686A>C	c.(685-687)aAc>aCc	p.N229T	NTNG2_ENST00000360670.3_Missense_Mutation_p.N229T|NTNG2_ENST00000372179.3_Missense_Mutation_p.N229T|NTNG2_ENST00000393228.4_Missense_Mutation_p.N229T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	229	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.N229T(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GACCTGCGCAACATGGACAAC	0.672																																					p.N229T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A686C	9						.						55.0	55.0	55.0					9																	135073825		2203	4300	6503	134063646	SO:0001583	missense	84628	exon3			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.686A>C	9.37:g.135073825A>C	ENSP00000376921:p.Asn229Thr		134063646	NM_032536	Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897789	0.72639	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.242129	0.39407	N	0.001369	T	0.77538	0.4145	M	0.74467	2.265	0.58432	D	0.999996	P	0.40398	0.716	B	0.43301	0.415	T	0.80979	-0.1140	10	0.72032	D	0.01	.	14.2827	0.66224	1.0:0.0:0.0:0.0	.	229	Q96CW9	NTNG2_HUMAN	T	229	ENSP00000376921:N229T;ENSP00000376920:N229T;ENSP00000353888:N229T;ENSP00000361252:N229T	ENSP00000353888:N229T	N	+	2	0	NTNG2	134063646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.326000	0.96389	1.957000	0.56846	0.459000	0.35465	AAC		0.672	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536	
SETX	23064	broad.mit.edu	37	9	135202064	135202064	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:135202064C>T	ENST00000224140.5	-	10	5103	c.4921G>A	c.(4921-4923)Gtt>Att	p.V1641I	SETX_ENST00000372169.2_Missense_Mutation_p.V1641I|SETX_ENST00000393220.1_Missense_Mutation_p.V1641I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1641					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V1641I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGAGGGGAACTGGCTGTGGT	0.418																																					p.V1641I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4921A	9						.						117.0	109.0	112.0					9																	135202064		2203	4300	6503	134191885	SO:0001583	missense	23064	exon10			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4921G>A	9.37:g.135202064C>T	ENSP00000224140:p.Val1641Ile		134191885	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	c	2.054	-0.417128	0.04766	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86432	-2.03;-2.12;-1.74	5.07	-1.42	0.08913	.	3.649050	0.00896	N	0.002290	T	0.74129	0.3676	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16802	0.019;0.0;0.002	B;B;B	0.18561	0.022;0.001;0.002	T	0.58634	-0.7602	10	0.37606	T	0.19	.	0.5561	0.00671	0.2708:0.2227:0.1259:0.3806	.	1641;1641;1641	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	I	1641	ENSP00000224140:V1641I;ENSP00000361242:V1641I;ENSP00000376913:V1641I	ENSP00000224140:V1641I	V	-	1	0	SETX	134191885	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.183000	0.03079	-0.346000	0.08312	-0.805000	0.03199	GTT		0.418	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
DOCK8	81704	broad.mit.edu	37	9	311983	311983	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:311983C>T	ENST00000453981.1	+	6	670	c.558C>T	c.(556-558)tgC>tgT	p.C186C	DOCK8_ENST00000432829.2_Silent_p.C118C|DOCK8_ENST00000469391.1_Silent_p.C118C			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	186					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.C186C(1)|p.C118C(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACGTGCTGTGCGACGTGTCTG	0.557																																					p.C118C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C354T	9						.						136.0	143.0	141.0					9																	311983		2203	4300	6503	301983	SO:0001819	synonymous_variant	81704	exon5			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.558C>T	9.37:g.311983C>T			301983	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																				0.557	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
JAK2	3717	broad.mit.edu	37	9	5072515	5072515	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:5072515delT	ENST00000381652.3	+	13	2159	c.1665delT	c.(1663-1665)actfs	p.T555fs	JAK2_ENST00000544510.1_Frame_Shift_Del_p.T406fs|JAK2_ENST00000539801.1_Frame_Shift_Del_p.T555fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	555	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.F556fs*12(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GCCAAGGCACTTTTACAAAGA	0.358		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.T555fs			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1665delT	9						.						53.0	55.0	54.0					9																	5072515		2203	4300	6503	5062515	SO:0001589	frameshift_variant	3717	exon13	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1665delT	9.37:g.5072515delT	ENSP00000371067:p.Thr555fs		5062515	NM_004972	O14636|O75297	Frame_Shift_Del	DEL	ENST00000381652.3	37	CCDS6457.1																																																																																				0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
PTPRD	5789	broad.mit.edu	37	9	8404588	8404588	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:8404588C>T	ENST00000381196.4	-	33	4702	c.4159G>A	c.(4159-4161)Gcg>Acg	p.A1387T	PTPRD_ENST00000540109.1_Missense_Mutation_p.A1387T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A977T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1374T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A980T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A980T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A980T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A981T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1365T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A977T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1387T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1387	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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.A1387T(1)|p.A858T(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)		ATTACATTCGCGTATCTATTC	0.383										TSP Lung(15;0.13)																											p.A977T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2929A	9						.						189.0	158.0	169.0					9																	8404588		2203	4300	6503	8394588	SO:0001583	missense	5789	exon20			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.4159G>A	9.37:g.8404588C>T	ENSP00000370593:p.Ala1387Thr		8394588	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549661	0.96501	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.92	5.92	0.95590	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.973;0.973;0.973;0.973;0.967;0.954;0.975;0.997;0.992	D	0.85192	0.1010	9	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	980;971;980;981;977;977;1374;1387;1387	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1387;1387;1374;1365;981;980;977;977;858;1387;980;980	ENSP00000370593:A1387T;ENSP00000348812:A1387T;ENSP00000353187:A1374T;ENSP00000351293:A1365T;ENSP00000347373:A981T;ENSP00000380741:A980T;ENSP00000380735:A977T;ENSP00000440515:A977T;ENSP00000438164:A1387T;ENSP00000417093:A980T;ENSP00000380731:A980T	.	A	-	1	0	PTPRD	8394588	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.794000	0.96219	0.650000	0.86243	GCG		0.383	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
SNAPC3	6619	broad.mit.edu	37	9	15433620	15433620	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:15433620T>C	ENST00000380821.3	+	3	639	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	RNU6-319P_ENST00000516025.1_RNA|SNAPC3_ENST00000461041.1_3'UTR	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	155					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F155L(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		ACAAGAAACATTCGTTTATGA	0.358																																					p.F155L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T463C	9						.						139.0	135.0	136.0					9																	15433620		2203	4300	6503	15423620	SO:0001583	missense	6619	exon3			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.463T>C	9.37:g.15433620T>C	ENSP00000370200:p.Phe155Leu		15423620	NM_001039697	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571984	0.45798	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.43294	0.95	5.48	4.34	0.51931	.	0.110494	0.64402	D	0.000006	T	0.36110	0.0955	L	0.53249	1.67	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.002	T	0.14254	-1.0479	10	0.39692	T	0.17	-21.0298	8.1361	0.31056	0.0:0.0913:0.0:0.9087	.	126;155	B4DDR9;Q92966	.;SNPC3_HUMAN	L	155;155;126;155	ENSP00000370200:F155L	ENSP00000370185:F155L	F	+	1	0	SNAPC3	15423620	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	1.889000	0.39718	0.913000	0.36797	0.533000	0.62120	TTC		0.358	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	
CNTLN	54875	broad.mit.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-	rs552024453		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:17484353delA	ENST00000380647.3	+	24	4000	c.3916delA	c.(3916-3918)aaafs	p.K1307fs	CNTLN_ENST00000262360.5_Frame_Shift_Del_p.K1307fs|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.K1307fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1307					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.M1308fs*1(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGAGCTTAAAAAAATGAA	0.398																																					p.K1306fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3916delA	9						.						121.0	119.0	120.0					9																	17484353		1842	4086	5928	17474353	SO:0001589	frameshift_variant	54875	exon24			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3916delA	9.37:g.17484353delA	ENSP00000370021:p.Lys1307fs		17474353	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	ENST00000380647.3	37	CCDS43789.1																																																																																				0.398	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
SH3GL2	6456	broad.mit.edu	37	9	17747074	17747074	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:17747074A>T	ENST00000380607.4	+	2	176	c.56A>T	c.(55-57)gAg>gTg	p.E19V	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	19	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.|Membrane-binding amphipathic helix.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E19V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AAAGTGAGTGAGAAGGTTGGA	0.358																																					p.E19V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A56T	9						.						108.0	95.0	99.0					9																	17747074		2203	4300	6503	17737074	SO:0001583	missense	6456	exon2			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.56A>T	9.37:g.17747074A>T	ENSP00000369981:p.Glu19Val		17737074	NM_003026	B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621930	0.87460	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607	T	0.48836	0.8	5.97	5.97	0.96955	BAR (3);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.92219	3.285	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.82305	-0.0523	10	0.87932	D	0	.	15.4298	0.75084	1.0:0.0:0.0:0.0	.	19	Q99962	SH3G2_HUMAN	V	19	ENSP00000369981:E19V	ENSP00000369981:E19V	E	+	2	0	SH3GL2	17737074	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.408000	0.90221	2.281000	0.76405	0.533000	0.62120	GAG		0.358	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026	
ADAMTSL1	92949	broad.mit.edu	37	9	18639299	18639299	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:18639299A>G	ENST00000380548.4	+	7	1063	c.724A>G	c.(724-726)Agc>Ggc	p.S242G	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S242G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S242G|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S242G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	242			S -> N (in dbSNP:rs776755).			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N242D(1)|p.S242G(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)		AAACAGTCTCAGCTCCACAGG	0.443																																					p.S242G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A724G	9						.						76.0	73.0	74.0					9																	18639299		2203	4299	6502	18629299	SO:0001583	missense	92949	exon7			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.724A>G	9.37:g.18639299A>G	ENSP00000369921:p.Ser242Gly		18629299	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.349951	0.41599	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.64991	-0.13;0.55;0.55;0.55	5.77	5.77	0.91146	.	.	.	.	.	T	0.64091	0.2567	M	0.64170	1.965	0.80722	D	1	P;B	0.52842	0.956;0.007	B;B	0.44224	0.444;0.009	T	0.68375	-0.5425	9	0.52906	T	0.07	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	242;242	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	G	242	ENSP00000369921:S242G;ENSP00000327887:S242G;ENSP00000369940:S242G;ENSP00000276935:S242G	ENSP00000276935:S242G	S	+	1	0	ADAMTSL1	18629299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.138000	0.71717	2.330000	0.79161	0.528000	0.53228	AGC		0.443	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
TOPORS	10210	broad.mit.edu	37	9	32543159	32543159	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:32543159G>A	ENST00000360538.2	-	3	1480	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	TOPORS_ENST00000379858.1_Missense_Mutation_p.T390M	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	455	Interaction with SUMO1.|Required for sumoylation and localization to discrete nuclear foci.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T455M(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TATCTGAGACGTGGCTCCTCC	0.403																																					p.T390M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1169T	9						.						145.0	131.0	136.0					9																	32543159		2203	4300	6503	32533159	SO:0001583	missense	10210	exon2			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1364C>T	9.37:g.32543159G>A	ENSP00000353735:p.Thr455Met		32533159	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	0.557	-0.846761	0.02671	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15487	2.42;2.43	5.83	3.85	0.44370	.	0.430986	0.19975	N	0.101896	T	0.09202	0.0227	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.18618	-1.0331	10	0.41790	T	0.15	-7.3412	6.7671	0.23573	0.1634:0.0:0.6648:0.1718	.	455	Q9NS56	TOPRS_HUMAN	M	455;390	ENSP00000353735:T455M;ENSP00000369187:T390M	ENSP00000353735:T455M	T	-	2	0	TOPORS	32533159	0.001000	0.12720	0.585000	0.28666	0.029000	0.11900	1.171000	0.31896	1.478000	0.48253	-0.162000	0.13425	ACG		0.403	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TAF1L	138474	broad.mit.edu	37	9	32632482	32632482	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:32632482A>G	ENST00000242310.4	-	1	3185	c.3096T>C	c.(3094-3096)ccT>ccC	p.P1032P	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	1032					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.P1032P(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)		TCTCTTCCTCAGGCACACCAA	0.483																																					p.P1032P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3096C	9						.						228.0	224.0	226.0					9																	32632482		2203	4300	6503	32622482	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.3096T>C	9.37:g.32632482A>G			32622482	NM_153809	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32633671	32633671	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:32633671C>T	ENST00000242310.4	-	1	1996	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	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	636					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.R636H(2)		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)		CAGAGGTGGGCGATGGAACTG	0.473																																					p.R636H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1907A	9						.						93.0	95.0	94.0					9																	32633671		2203	4300	6503	32623671	SO:0001583	missense	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.1907G>A	9.37:g.32633671C>T	ENSP00000418379:p.Arg636His		32623671	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237718	0.79800	.	.	ENSG00000122728	ENST00000242310	T	0.21361	2.01	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	M	0.89030	3	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.46091	-0.9216	10	0.87932	D	0	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	636	Q8IZX4	TAF1L_HUMAN	H	636	ENSP00000418379:R636H	ENSP00000418379:R636H	R	-	2	0	TAF1L	32623671	0.998000	0.40836	0.997000	0.53966	0.849000	0.48306	4.927000	0.63440	0.632000	0.30432	0.195000	0.17529	CGC		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
RPP25L	138716	broad.mit.edu	37	9	34611288	34611288	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:34611288C>T	ENST00000297613.4	-	2	286	c.6G>A	c.(4-6)gaG>gaA	p.E2E	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Silent_p.E2E	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	2						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E2E(1)									TCCGGTAGTGCTCCATCCTGC	0.572																																					p.E2E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6A	9						.						66.0	71.0	69.0					9																	34611288		2203	4300	6503	34601288	SO:0001819	synonymous_variant	138716	exon2			BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.6G>A	9.37:g.34611288C>T			34601288	NM_148178	D3DRM5	Silent	SNP	ENST00000297613.4	37	CCDS6559.1																																																																																				0.572	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179	
STOML2	30968	broad.mit.edu	37	9	35101491	35101491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:35101491G>A	ENST00000356493.5	-	6	573	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)	p.R171C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGGAGGCAGCGGATACCCCAG	0.567																																					p.R171C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C511T	9						.						140.0	141.0	141.0					9																	35101491		2203	4300	6503	35091491	SO:0001583	missense	30968	exon6			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.511C>T	9.37:g.35101491G>A	ENSP00000348886:p.Arg171Cys		35091491	NM_013442	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990518	0.74589	.	.	ENSG00000165283	ENST00000356493	D	0.94758	-3.51	5.26	5.26	0.73747	.	0.176889	0.46145	D	0.000309	D	0.96830	0.8965	M	0.85041	2.73	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	D	0.96917	0.9671	10	0.72032	D	0.01	-0.8274	13.6161	0.62108	0.0:0.0:0.8449:0.155	.	171	Q9UJZ1	STML2_HUMAN	C	171	ENSP00000348886:R171C	ENSP00000348886:R171C	R	-	1	0	STOML2	35091491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.058000	0.71126	2.739000	0.93911	0.563000	0.77884	CGC		0.567	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442	
ARHGEF39	84904	broad.mit.edu	37	9	35663048	35663048	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:35663048T>A	ENST00000378387.3	-	6	685	c.568A>T	c.(568-570)Act>Tct	p.T190S	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.T154S|ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_Intron	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	190	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T190S(1)									CTCTGGGCAGTCTCACTTATC	0.527																																					p.T190S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A568T	9						.						104.0	91.0	95.0					9																	35663048		2203	4300	6503	35653048	SO:0001583	missense	84904	exon6			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.568A>T	9.37:g.35663048T>A	ENSP00000367638:p.Thr190Ser		35653048	NM_032818	Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054888	0.55325	.	.	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.63096	-0.02;-0.02	5.94	4.82	0.62117	Dbl homology (DH) domain (5);	0.109140	0.64402	D	0.000010	T	0.40522	0.1120	N	0.08118	0	0.80722	D	1	B	0.25390	0.125	B	0.31390	0.129	T	0.40905	-0.9538	10	0.66056	D	0.02	-2.0573	5.5344	0.17003	0.0:0.1397:0.0:0.8603	.	190	Q8N4T4	CI100_HUMAN	S	190;154	ENSP00000367638:T190S;ENSP00000367648:T154S	ENSP00000367638:T190S	T	-	1	0	C9orf100	35653048	0.464000	0.25807	1.000000	0.80357	0.992000	0.81027	1.084000	0.30828	2.275000	0.75901	0.528000	0.53228	ACT		0.527	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818	
GBA2	57704	broad.mit.edu	37	9	35739672	35739672	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:35739672T>C	ENST00000378103.3	-	9	2058	c.1535A>G	c.(1534-1536)cAc>cGc	p.H512R	GBA2_ENST00000545786.1_Missense_Mutation_p.H518R|GBA2_ENST00000378094.4_Missense_Mutation_p.H512R|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	512					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.H512R(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGCGGAGGTGACACATGTT	0.567																																					p.H512R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1535G	9						.						82.0	69.0	73.0					9																	35739672		2203	4300	6503	35729672	SO:0001583	missense	57704	exon9			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1535A>G	9.37:g.35739672T>C	ENSP00000367343:p.His512Arg		35729672	NM_020944	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	2.152	-0.394370	0.04899	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.5	5.5	0.81552	Six-hairpin glycosidase-like (1);	0.381120	0.30969	N	0.008505	T	0.23133	0.0559	N	0.14661	0.345	0.25476	N	0.987789	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11690	-1.0577	9	0.21014	T	0.42	-1.1164	7.8892	0.29667	0.0:0.1516:0.0:0.8484	.	518;512;512	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	R	512;512;518	.	ENSP00000367334:H512R	H	-	2	0	GBA2	35729672	1.000000	0.71417	0.982000	0.44146	0.009000	0.06853	0.501000	0.22578	2.308000	0.77769	0.533000	0.62120	CAC		0.567	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
NPR2	4882	broad.mit.edu	37	9	35792722	35792722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:35792722C>T	ENST00000342694.2	+	1	572	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	106					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.A106V(1)		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)	TACCCTGCTGCCTCTGTGGCC	0.622																																					p.A106V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C317T	9						.						117.0	104.0	108.0					9																	35792722		2203	4300	6503	35782722	SO:0001583	missense	4882	exon1			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	ENST00000342694.2:c.317C>T	9.37:g.35792722C>T	ENSP00000341083:p.Ala106Val		35782722	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743795	0.89663	.	.	ENSG00000159899	ENST00000342694	D	0.83163	-1.69	3.93	3.93	0.45458	Extracellular ligand-binding receptor (1);	0.000000	0.43919	D	0.000518	D	0.90058	0.6895	M	0.85462	2.755	0.58432	D	0.999999	D;P	0.62365	0.991;0.877	D;P	0.66847	0.947;0.474	D	0.88752	0.3251	10	0.25106	T	0.35	.	13.6299	0.62189	0.0:1.0:0.0:0.0	.	106;106	P20594-2;P20594	.;ANPRB_HUMAN	V	106	ENSP00000341083:A106V	ENSP00000341083:A106V	A	+	2	0	NPR2	35782722	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.408000	0.80041	2.183000	0.69458	0.563000	0.77884	GCC		0.622	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
NPR2	4882	broad.mit.edu	37	9	35802771	35802771	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:35802771C>T	ENST00000342694.2	+	12	2113	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.R620C(1)		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)	CTGGATGTTTCGTTATTCACT	0.408																																					p.R620C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1858T	9						.						213.0	186.0	195.0					9																	35802771		2203	4300	6503	35792771	SO:0001583	missense	4882	exon12			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	ENST00000342694.2:c.1858C>T	9.37:g.35802771C>T	ENSP00000341083:p.Arg620Cys		35792771	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165871	0.78339	.	.	ENSG00000159899	ENST00000342694	T	0.64618	-0.11	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000320	D	0.83427	0.5252	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86234	0.1639	10	0.72032	D	0.01	.	18.3745	0.90431	0.0:1.0:0.0:0.0	.	620	P20594	ANPRB_HUMAN	C	620	ENSP00000341083:R620C	ENSP00000341083:R620C	R	+	1	0	NPR2	35792771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.564000	0.60830	2.702000	0.92279	0.655000	0.94253	CGT		0.408	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
ANKRD20A1	84210	broad.mit.edu	37	9	67966645	67966645	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:67966645delA	ENST00000377477.2	+	14	1481	c.1369delA	c.(1369-1371)aaafs	p.K458fs	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	458						plasma membrane (GO:0005886)		p.N459fs*5(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TATGCTGTACAAAAAAAATAG	0.274																																					p.K457fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1369delA	9						.						1.0	1.0	1.0					9																	67966645		12	32	44	67556465	SO:0001589	frameshift_variant	441425	exon14			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.1369delA	9.37:g.67966645delA	ENSP00000366697:p.Lys458fs		67556465	NM_001012419	Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	CCDS6620.1																																																																																				0.274	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1		
TRPM3	80036	broad.mit.edu	37	9	73151929	73151929	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:73151929C>A	ENST00000377110.3	-	25	4307	c.4064G>T	c.(4063-4065)aGt>aTt	p.S1355I	TRPM3_ENST00000396285.1_Missense_Mutation_p.S1214I|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1382I|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1217I|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1359I|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1227I|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1214I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1227I|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1214I|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1217I|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1204I			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1380					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.S1359I(1)|p.S1227I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTAAAAATACTTTCCAACTT	0.473																																					p.S1355I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4064T	9						.						95.0	102.0	100.0					9																	73151929		2203	4300	6503	72341749	SO:0001583	missense	80036	exon25			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4064G>T	9.37:g.73151929C>A	ENSP00000366314:p.Ser1355Ile		72341749	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.125497|2.125497	0.37533|0.37533	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.60672	.|0.28;0.19;0.19;0.17;0.28;0.17;0.17;0.19;0.19;0.27	6.17|6.17	5.28|5.28	0.74379|0.74379	.|.	.|0.042081	.|0.85682	.|D	.|0.000000	T|T	0.54191|0.54191	0.1843|0.1843	N|N	0.24115|0.24115	0.695|0.695	0.41324|0.41324	D|D	0.987196|0.987196	.|P;B;D;P;B;B;P	.|0.54207	.|0.946;0.435;0.965;0.948;0.435;0.279;0.91	.|P;B;P;P;B;B;P	.|0.50896	.|0.653;0.086;0.643;0.451;0.086;0.116;0.451	T|T	0.57230|0.57230	-0.7847|-0.7847	5|10	.|0.44086	.|T	.|0.13	-16.9264|-16.9264	15.5723|15.5723	0.76349|0.76349	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	.|1355;1345;1359;1217;1214;1327;1214	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	N|I	1203|1355;1227;1217;1214;1359;1214;1214;1227;1217;1382	.|ENSP00000366314:S1355I;ENSP00000366310:S1227I;ENSP00000354066:S1217I;ENSP00000366309:S1214I;ENSP00000350140:S1359I;ENSP00000386127:S1214I;ENSP00000379581:S1214I;ENSP00000379587:S1227I;ENSP00000350791:S1217I;ENSP00000389542:S1382I	.|ENSP00000350140:S1359I	K|S	-|-	3|2	2|0	TRPM3|TRPM3	72341749|72341749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.588000|5.588000	0.67517|0.67517	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	AAG|AGT		0.473	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945	
GNA14	9630	broad.mit.edu	37	9	80144029	80144029	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:80144029C>T	ENST00000341700.6	-	2	778	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	RP11-466A17.1_ENST00000439145.1_RNA	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	89					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A89T(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GTGTCCATCGCTCTGATCATG	0.478																																					p.A89T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	9						.						398.0	322.0	348.0					9																	80144029		2203	4300	6503	79333849	SO:0001583	missense	9630	exon2			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.265G>A	9.37:g.80144029C>T	ENSP00000365807:p.Ala89Thr		79333849	NM_004297	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839461	0.97009	.	.	ENSG00000156049	ENST00000341700	D	0.90504	-2.68	5.92	5.92	0.95590	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.96781	0.8949	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96911	0.9667	10	0.87932	D	0	.	20.4025	0.99000	0.0:1.0:0.0:0.0	.	89	O95837	GNA14_HUMAN	T	89	ENSP00000365807:A89T	ENSP00000365807:A89T	A	-	1	0	GNA14	79333849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.815000	0.86186	2.828000	0.97474	0.650000	0.86243	GCG		0.478	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		
UBQLN1	29979	broad.mit.edu	37	9	86301035	86301035	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:86301035A>G	ENST00000376395.4	-	2	739	c.216T>C	c.(214-216)caT>caC	p.H72H	UBQLN1_ENST00000257468.7_Silent_p.H72H	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	72	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.H72H(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GTTGGTCAGTATGTGATTTAA	0.318																																					p.H72H	Melanoma(186;1284 2073 12755 14558 18426)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T216C	9						.						58.0	57.0	57.0					9																	86301035		2202	4298	6500	85490855	SO:0001819	synonymous_variant	29979	exon2			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.216T>C	9.37:g.86301035A>G			85490855	NM_053067	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Silent	SNP	ENST00000376395.4	37	CCDS6663.1																																																																																				0.318	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438	
FGD3	89846	broad.mit.edu	37	9	95766309	95766309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:95766309delG	ENST00000375482.3	+	5	1066	c.570delG	c.(568-570)gcgfs	p.A190fs	FGD3_ENST00000337352.6_Frame_Shift_Del_p.A190fs|FGD3_ENST00000416701.2_Frame_Shift_Del_p.A190fs	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	190	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|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.I192fs*28(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGACGGATGCGGGGATCCCTC	0.597											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A190fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.570delG	9						.						76.0	80.0	79.0					9																	95766309		2065	4217	6282	94806130	SO:0001589	frameshift_variant	89846	exon5			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.570delG	9.37:g.95766309delG	ENSP00000364631:p.Ala190fs	1315	94806130	NM_001083536	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Frame_Shift_Del	DEL	ENST00000375482.3	37	CCDS43849.1																																																																																				0.597	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086	
MED27	9442	broad.mit.edu	37	9	134735980	134735980	+	Frame_Shift_Del	DEL	G	G	-	rs557626461	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:134735980delG	ENST00000292035.5	-	8	944	c.881delC	c.(880-882)ccgfs	p.P294fs	MED27_ENST00000357028.2_Frame_Shift_Del_p.P258fs	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	294					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.P294L(4)|p.P294fs*>18(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CCTCCATGTCGGGGGAAGGCC	0.597																																					p.P294fs	Colon(41;784 923 6932 42329 52483)											.	.	5	Substitution - Missense(4)|Deletion - Frameshift(1)	endometrium(2)|kidney(2)|large_intestine(1)	c.881delC	9						.						30.0	29.0	29.0					9																	134735980		2203	4300	6503	133725801	SO:0001589	frameshift_variant	9442	exon8			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.881delC	9.37:g.134735980delG	ENSP00000292035:p.Pro294fs		133725801	NM_004269	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Frame_Shift_Del	DEL	ENST00000292035.5	37	CCDS6945.1																																																																																				0.597	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269	
TSC1	7248	broad.mit.edu	37	9	135779131	135779131	+	Silent	SNP	C	C	T	rs142662480		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chr9:135779131C>T	ENST00000298552.3	-	17	2336	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	TSC1_ENST00000440111.2_Silent_p.E705E|TSC1_ENST00000545250.1_Silent_p.E654E	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	705					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)|p.E705E(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCTTAAAACGCTCATAGAGTA	0.547			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.E704E		yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|bone(1)	c.G2112A	9						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	85.0	82.0	83.0		2115,2112,1962	3.5	1.0	9	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC1	NM_000368.4,NM_001162426.1,NM_001162427.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	705/1165,704/1164,654/1114	135779131	1,13005	2203	4300	6503	134768952	SO:0001819	synonymous_variant	7248	exon17	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2115G>A	9.37:g.135779131C>T			134768952	NM_001162426	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1																																																																																				0.547	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
RGAG1	57529	broad.mit.edu	37	X	109697855	109697856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:109697855_109697856insG	ENST00000465301.2	+	3	4256_4257	c.4010_4011insG	c.(4009-4014)atggggfs	p.MG1337fs	RGAG1_ENST00000540313.1_Frame_Shift_Ins_p.MG1337fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1337								p.N1339fs*2(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAGGAGGCCATGGGGAATGAAC	0.53																																					p.M1337fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.4010_4011insG	X						.																																			109584512	SO:0001589	frameshift_variant	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.4014dupG	X.37:g.109697859_109697859dupG	ENSP00000419786:p.Met1337fs		109584511	NM_020769	Q9P2M8	Frame_Shift_Ins	INS	ENST00000465301.2	37	CCDS14552.1																																																																																				0.530	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
EIF2S3	1968	broad.mit.edu	37	X	24091340	24091341	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:24091340_24091341insA	ENST00000253039.4	+	11	1568_1569	c.1315_1316insA	c.(1315-1317)gaafs	p.E439fs	EIF2S3_ENST00000460032.1_3'UTR	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	439					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.I441fs*4(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGAGGTAGGAGAAAAAATTGCC	0.421																																					p.E439fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1315_1316insA	X						.																																			24001262	SO:0001589	frameshift_variant	1968	exon11			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1321dupA	X.37:g.24091346_24091346dupA	ENSP00000253039:p.Glu439fs		24001261	NM_001415	B5BTZ4	Frame_Shift_Ins	INS	ENST00000253039.4	37	CCDS14210.1																																																																																				0.421	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415	
MSN	4478	broad.mit.edu	37	X	64955218	64955219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:64955218_64955219insA	ENST00000360270.5	+	8	1057_1058	c.885_886insA	c.(886-888)aagfs	p.K296fs		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	296					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.P297fs*2(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TGCGCCGTCGCAAGCCTGATAC	0.574			T	ALK	ALCL																																p.R295fs			Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.885_886insA	X						.																																			64871944	SO:0001589	frameshift_variant	4478	exon8			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.887dupA	X.37:g.64955220_64955220dupA	ENSP00000353408:p.Lys296fs		64871943	NM_002444		Frame_Shift_Ins	INS	ENST00000360270.5	37	CCDS14382.1																																																																																				0.574	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444	
RPS6KA6	27330	broad.mit.edu	37	X	83371254	83371255	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:83371254_83371255insA	ENST00000262752.2	-	12	997_998	c.990_991insT	c.(988-993)tttgcafs	p.A331fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Ins_p.A331fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	331	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A331fs*4(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCAATATTTGCAAAAAACAGAT	0.272																																					p.A331fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.991_992insT	X						.																																			83257911	SO:0001589	frameshift_variant	27330	exon12			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.991dupT	X.37:g.83371260_83371260dupA	ENSP00000262752:p.Ala331fs		83257910	NM_014496	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Frame_Shift_Ins	INS	ENST00000262752.2	37	CCDS14451.1																																																																																				0.272	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
BEX5	340542	broad.mit.edu	37	X	101409125	101409125	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:101409125A>C	ENST00000543160.1	-	3	414	c.113T>G	c.(112-114)gTt>gGt	p.V38G	BEX5_ENST00000484837.1_5'Flank|BEX5_ENST00000333643.3_Missense_Mutation_p.V38G	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	38						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.V38G(1)		large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TGGAGCCCAAACCCCTTTAAC	0.507																																					p.V38G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T113G	X						.						114.0	102.0	106.0					X																	101409125		2203	4300	6503	101295781	SO:0001583	missense	340542	exon3			BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"""NGFRAP1-like 1"", ""BEX family member 5"""	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.113T>G	X.37:g.101409125A>C	ENSP00000446054:p.Val38Gly		101295781	NM_001159560	Q569J0|Q56A74	Missense_Mutation	SNP	ENST00000543160.1	37	CCDS35350.1	.	.	.	.	.	.	.	.	.	.	A	0.029	-1.348517	0.01266	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.08282	3.11;3.11	3.59	-7.19	0.01500	.	1.590030	0.04330	N	0.352222	T	0.02727	0.0082	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38478	-0.9659	10	0.25106	T	0.35	.	1.4982	0.02470	0.3254:0.1308:0.1023:0.4414	.	38	Q5H9J7	BEX5_HUMAN	G	38	ENSP00000446054:V38G;ENSP00000328030:V38G	ENSP00000328030:V38G	V	-	2	0	BEX5	101295781	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.824000	0.00747	-2.722000	0.00388	-1.359000	0.01217	GTT		0.507	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057607.1	XM_291335	
ESX1	80712	broad.mit.edu	37	X	103498990	103498990	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:103498990G>A	ENST00000372588.4	-	2	434	c.351C>T	c.(349-351)acC>acT	p.T117T		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	117					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.T117T(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCCCCTCCACGGTCGTCTGGG	0.697																																					p.T117T	Pancreas(200;1705 2227 25194 28471 45274)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351T	X						.						24.0	28.0	27.0					X																	103498990		2193	4276	6469	103385646	SO:0001819	synonymous_variant	80712	exon2			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.351C>T	X.37:g.103498990G>A			103385646	NM_153448	B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	CCDS14516.1																																																																																				0.697	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448	
NRK	203447	broad.mit.edu	37	X	105161580	105161580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:105161580C>T	ENST00000243300.9	+	16	2731	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	NRK_ENST00000428173.2_Missense_Mutation_p.R811W	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	810					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.R810W(1)|p.R811W(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						CGTTCCTCAGCGGTCTCTTTT	0.413										HNSCC(51;0.14)																											p.R810W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2428T	X						.						96.0	77.0	83.0					X																	105161580		1876	4096	5972	105048236	SO:0001583	missense	203447	exon16			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.2428C>T	X.37:g.105161580C>T	ENSP00000434830:p.Arg810Trp		105048236	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	13.04	2.116926	0.37339	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.80123	-1.33;-1.34	4.76	1.89	0.25635	.	2.489080	0.01598	N	0.021913	T	0.71307	0.3324	N	0.24115	0.695	0.09310	N	0.999997	B;B	0.13145	0.007;0.0	B;B	0.08055	0.003;0.0	T	0.57323	-0.7831	10	0.87932	D	0	.	6.5371	0.22361	0.0:0.5585:0.3398:0.1017	.	478;810	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	W	810;811	ENSP00000434830:R810W;ENSP00000438378:R811W	ENSP00000434830:R810W	R	+	1	2	NRK	105048236	0.028000	0.19301	0.042000	0.18584	0.922000	0.55478	-0.007000	0.12810	0.036000	0.15547	0.600000	0.82982	CGG		0.413	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
ATG4A	115201	broad.mit.edu	37	X	107377289	107377289	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:107377289T>G	ENST00000372232.3	+	5	454	c.295T>G	c.(295-297)Tgg>Ggg	p.W99G	ATG4A_ENST00000345734.3_Missense_Mutation_p.W99G|ATG4A_ENST00000372254.3_Missense_Mutation_p.W75G|ATG4A_ENST00000545696.1_Missense_Mutation_p.W22G	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	99					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)	p.W99G(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TTAAAAAGACTGGAGCTGGGA	0.338																																					p.W99G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T295G	X						.						85.0	78.0	81.0					X																	107377289		2203	4300	6503	107263945	SO:0001583	missense	115201	exon5			AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.295T>G	X.37:g.107377289T>G	ENSP00000361306:p.Trp99Gly		107263945	NM_178270	A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865528	0.71949	.	.	ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000457035;ENST00000545696	T;T;T;T	0.54866	0.59;0.78;0.63;0.55	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	H	0.97214	3.96	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.95	D;D;P	0.87578	0.998;0.996;0.733	D	0.88791	0.3278	10	0.87932	D	0	-5.5281	15.3802	0.74648	0.0:0.0:0.0:1.0	.	22;99;99	F5H3G3;Q8WYN0-2;Q8WYN0	.;.;ATG4A_HUMAN	G	99;99;75;22;22	ENSP00000361306:W99G;ENSP00000298131:W99G;ENSP00000361328:W75G;ENSP00000438936:W22G	ENSP00000341833:W99G	W	+	1	0	ATG4A	107263945	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.122000	0.77169	2.016000	0.59253	0.486000	0.48141	TGG		0.338	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936	
LRCH2	57631	broad.mit.edu	37	X	114398326	114398326	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:114398326A>G	ENST00000317135.8	-	11	1406	c.1376T>C	c.(1375-1377)cTg>cCg	p.L459P	LRCH2_ENST00000538422.1_Missense_Mutation_p.L459P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	459								p.L459P(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTCCTCTGCCAGTAACTGTTC	0.388																																					p.L459P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1376C	X						.						125.0	99.0	107.0					X																	114398326		1896	4093	5989	114304582	SO:0001583	missense	57631	exon11			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1376T>C	X.37:g.114398326A>G	ENSP00000325091:p.Leu459Pro		114304582	NM_020871	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727452	0.30593	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.84516	-1.86;5.43	5.13	3.89	0.44902	.	0.170176	0.39544	N	0.001337	D	0.85301	0.5665	L	0.50333	1.59	0.36532	D	0.870765	P;D	0.60575	0.826;0.988	B;P	0.55391	0.367;0.775	D	0.85978	0.1481	10	0.35671	T	0.21	-4.0753	9.0028	0.36092	0.8327:0.0:0.0:0.1673	.	459;459	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	P	459	ENSP00000325091:L459P;ENSP00000439366:L459P	ENSP00000325091:L459P	L	-	2	0	LRCH2	114304582	0.997000	0.39634	0.029000	0.17559	0.393000	0.30537	4.602000	0.61098	1.693000	0.51124	0.345000	0.21793	CTG		0.388	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871	
CT83	203413	broad.mit.edu	37	X	115593061	115593061	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:115593061A>G	ENST00000371894.4	-	2	335	c.189T>C	c.(187-189)tcT>tcC	p.S63S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		63						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S63S(3)		breast(1)|large_intestine(3)|lung(8)	12						AAATATCCCGAGAGAGGTCGT	0.403																																					p.S63S												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.T189C	X						.						156.0	137.0	144.0					X																	115593061		2203	4300	6503	115507089	SO:0001819	synonymous_variant	203413	exon2																														ENST00000371894.4:c.189T>C	X.37:g.115593061A>G			115507089	NM_001017978		Silent	SNP	ENST00000371894.4	37	CCDS35372.1																																																																																				0.403	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1		
FANCB	2187	broad.mit.edu	37	X	14863358	14863358	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:14863358G>T	ENST00000324138.3	-	7	1700	c.1547C>A	c.(1546-1548)tCc>tAc	p.S516Y	FANCB_ENST00000398334.1_Missense_Mutation_p.S516Y	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	516					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.S516Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CCGAAATCTGGAGTCATGGGC	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S516Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1547A	X						.						74.0	73.0	74.0					X																	14863358		2202	4299	6501	14773279	SO:0001583	missense	2187	exon8	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1547C>A	X.37:g.14863358G>T	ENSP00000326819:p.Ser516Tyr		14773279	NM_001018113	B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	G	0.910	-0.719461	0.03182	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.24	3.36	0.38483	.	0.410775	0.25804	N	0.028198	T	0.24586	0.0596	L	0.45581	1.43	0.09310	N	1	P	0.39759	0.687	B	0.37833	0.259	T	0.07083	-1.0791	9	0.15952	T	0.53	-6.4588	5.1559	0.15034	0.1653:0.0:0.6449:0.1899	.	516	Q8NB91	FANCB_HUMAN	Y	516	.	ENSP00000326819:S516Y	S	-	2	0	FANCB	14773279	0.981000	0.34729	0.159000	0.22649	0.023000	0.10783	1.636000	0.37144	2.169000	0.68431	0.429000	0.28392	TCC		0.373	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633	
DOCK11	139818	broad.mit.edu	37	X	117718782	117718782	+	Silent	SNP	A	A	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:117718782A>C	ENST00000276202.7	+	15	1743	c.1680A>C	c.(1678-1680)tcA>tcC	p.S560S	DOCK11_ENST00000276204.6_Silent_p.S560S	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	560					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S560S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCAAGCTTTCAAGTGAAGACA	0.343																																					p.S560S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1680C	X						.						100.0	104.0	103.0					X																	117718782		2203	4299	6502	117602810	SO:0001819	synonymous_variant	139818	exon15			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1680A>C	X.37:g.117718782A>C			117602810	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	CCDS35373.1																																																																																				0.343	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
ASMT	438	broad.mit.edu	37	X	1761726	1761726	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:1761726T>C	ENST00000381229.4	+	8	893	c.857T>C	c.(856-858)cTg>cCg	p.L286P	ASMT_ENST00000381233.3_Missense_Mutation_p.L239P|ASMT_ENST00000381241.3_Missense_Mutation_p.L314P			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	286					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.L314P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GAAAGCCTCCTGGATGAAGAC	0.547																																					p.L239P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T716C	X						.						226.0	209.0	215.0					X																	1761726		2203	4296	6499	1721726	SO:0001583	missense	438	exon7			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.857T>C	X.37:g.1761726T>C	ENSP00000370627:p.Leu286Pro		1721726	NM_001171039	B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37		.	.	.	.	.	.	.	.	.	.	.	15.53	2.861447	0.51482	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233;ENST00000432523	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	2.31	2.31	0.28768	.	0.000000	0.64402	U	0.000003	T	0.51312	0.1667	M	0.88979	2.995	0.19575	N	0.999963	D;D	0.62365	0.991;0.991	P;P	0.56612	0.727;0.802	T	0.48636	-0.9018	10	0.87932	D	0	.	9.9839	0.41830	0.0:0.0:0.0:1.0	.	239;314	P46597-2;P46597-3	.;.	P	314;286;239;65	ENSP00000370639:L314P;ENSP00000370627:L286P;ENSP00000370631:L239P;ENSP00000392053:L65P	ENSP00000370627:L286P	L	+	2	0	ASMT	1721726	1.000000	0.71417	0.568000	0.28447	0.838000	0.47535	5.414000	0.66405	0.806000	0.34183	0.370000	0.22315	CTG		0.547	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043	
MXRA5	25878	broad.mit.edu	37	X	3238275	3238275	+	Silent	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:3238275G>T	ENST00000217939.6	-	5	5605	c.5451C>A	c.(5449-5451)tcC>tcA	p.S1817S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1817						extracellular vesicular exosome (GO:0070062)		p.S1817S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGTTATAAAGGAGATAGAAC	0.512																																					p.S1817S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5451A	X						.						77.0	76.0	76.0					X																	3238275		2203	4300	6503	3248275	SO:0001819	synonymous_variant	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5451C>A	X.37:g.3238275G>T			3248275	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.512	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
RAI2	10742	broad.mit.edu	37	X	17818798	17818798	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:17818798C>A	ENST00000545871.1	-	3	1793	c.1333G>T	c.(1333-1335)Gat>Tat	p.D445Y	RAI2_ENST00000451717.1_Missense_Mutation_p.D445Y|RAI2_ENST00000360011.1_Missense_Mutation_p.D445Y|RAI2_ENST00000331511.1_Missense_Mutation_p.D445Y|RAI2_ENST00000415486.3_Missense_Mutation_p.D395Y	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	445					embryo development (GO:0009790)			p.D445Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGCACAGCATCTTCGACAGAG	0.537																																					p.D445Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1333T	X						.						157.0	156.0	156.0					X																	17818798		2203	4300	6503	17728719	SO:0001583	missense	10742	exon3			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1333G>T	X.37:g.17818798C>A	ENSP00000444210:p.Asp445Tyr		17728719	NM_001172739	B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.578190	0.28180	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.55052	0.57;0.57;0.57;0.57;0.54	5.12	4.26	0.50523	.	0.060713	0.64402	N	0.000008	T	0.63117	0.2484	L	0.36672	1.1	0.49213	D	0.999769	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66097	-0.6008	10	0.66056	D	0.02	-21.3396	14.4169	0.67155	0.1485:0.8515:0.0:0.0	.	395;445	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	Y	445;445;445;445;395	ENSP00000333456:D445Y;ENSP00000353106:D445Y;ENSP00000444210:D445Y;ENSP00000401323:D445Y;ENSP00000392578:D395Y	ENSP00000333456:D445Y	D	-	1	0	RAI2	17728719	1.000000	0.71417	0.807000	0.32361	0.305000	0.27757	5.426000	0.66476	1.168000	0.42723	-0.171000	0.13296	GAT		0.537	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785	
PPEF1	5475	broad.mit.edu	37	X	18843898	18843898	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:18843898C>T	ENST00000361511.4	+	18	2189	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Silent_p.Y503Y|PPEF1_ENST00000359763.6_Silent_p.Y512Y|PPEF1_ENST00000544635.1_Silent_p.Y500Y	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	565					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.Y565Y(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAACTCTGTACAGATACAGAT	0.328																																					p.Y503Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1509T	X						.						99.0	91.0	94.0					X																	18843898		2203	4300	6503	18753819	SO:0001819	synonymous_variant	5475	exon17			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1695C>T	X.37:g.18843898C>T			18753819	NM_152226	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	CCDS14188.1																																																																																				0.328	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
SH3KBP1	30011	broad.mit.edu	37	X	19564094	19564094	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:19564094C>T	ENST00000397821.3	-	15	1859	c.1569G>A	c.(1567-1569)gcG>gcA	p.A523A	SH3KBP1_ENST00000379698.4_Silent_p.A486A|SH3KBP1_ENST00000379716.1_Silent_p.A285A|SH3KBP1_ENST00000541422.1_Silent_p.A262A	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	523					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A523A(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTCCTCTGTGCGCAAGTGAAA	0.478																																					p.A486A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1458A	X						.						230.0	161.0	185.0					X																	19564094		2203	4300	6503	19474015	SO:0001819	synonymous_variant	30011	exon14			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1569G>A	X.37:g.19564094C>T			19474015	NM_001024666	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	CCDS14193.1																																																																																				0.478	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	
MAP7D2	256714	broad.mit.edu	37	X	20043807	20043807	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:20043807delT	ENST00000379651.3	-	8	1166	c.1148delA	c.(1147-1149)aacfs	p.N383fs	MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Frame_Shift_Del_p.N268fs|MAP7D2_ENST00000379643.5_Frame_Shift_Del_p.N424fs|MAP7D2_ENST00000443379.3_Frame_Shift_Del_p.N338fs|MAP7D2_ENST00000452324.3_Frame_Shift_Del_p.N331fs	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	383					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.N383fs*54(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ACCTGCGCTGTTTTCGGCTTT	0.582																																					p.N424fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1271delA	X						.						130.0	115.0	120.0					X																	20043807		2203	4300	6503	19953728	SO:0001589	frameshift_variant	256714	exon9			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1148delA	X.37:g.20043807delT	ENSP00000368972:p.Asn383fs		19953728	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Frame_Shift_Del	DEL	ENST00000379651.3	37	CCDS14195.1																																																																																				0.582	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
PHEX	5251	broad.mit.edu	37	X	22051205	22051205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:22051205G>A	ENST00000379374.4	+	1	647	c.82G>A	c.(82-84)Ggt>Agt	p.G28S	PHEX_ENST00000537599.1_Missense_Mutation_p.G28S	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	28					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.G28S(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CGTGTTTGTCGGTGGCACCCT	0.552																																					p.G28S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82A	X						.						238.0	167.0	191.0					X																	22051205		2203	4300	6503	21961126	SO:0001583	missense	5251	exon1			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.82G>A	X.37:g.22051205G>A	ENSP00000368682:p.Gly28Ser		21961126	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	1.064	-0.671890	0.03403	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	D;T	0.82081	-1.57;-1.3	5.84	2.66	0.31614	.	0.956358	0.08774	N	0.895762	T	0.68997	0.3062	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.52320	-0.8591	10	0.21014	T	0.42	.	9.5573	0.39346	0.3746:0.0:0.6254:0.0	.	28;28	F5GXU4;P78562	.;PHEX_HUMAN	S	28	ENSP00000368682:G28S;ENSP00000440362:G28S	ENSP00000368682:G28S	G	+	1	0	PHEX	21961126	0.063000	0.20901	0.003000	0.11579	0.064000	0.16182	1.877000	0.39598	0.593000	0.29745	0.594000	0.82650	GGT		0.552	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
PHEX	5251	broad.mit.edu	37	X	22065195	22065195	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:22065195T>G	ENST00000379374.4	+	3	780	c.215T>G	c.(214-216)cTg>cGg	p.L72R	PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.L72R	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	72					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.L72R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AAAGTAAATCTGTCTGTGGAT	0.368																																					p.L72R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T215G	X						.						177.0	155.0	162.0					X																	22065195		2203	4300	6503	21975116	SO:0001583	missense	5251	exon3			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.215T>G	X.37:g.22065195T>G	ENSP00000368682:p.Leu72Arg		21975116	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	T	7.488	0.650082	0.14516	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	D;D	0.81908	-1.55;-1.55	5.5	4.29	0.51040	.	0.366608	0.29660	N	0.011527	T	0.62344	0.2420	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.54470	-0.8289	10	0.07482	T	0.82	.	5.1697	0.15103	0.2377:0.0984:0.0:0.6639	.	72;72	F5GXU4;P78562	.;PHEX_HUMAN	R	72	ENSP00000368682:L72R;ENSP00000440362:L72R	ENSP00000368682:L72R	L	+	2	0	PHEX	21975116	0.003000	0.15002	1.000000	0.80357	0.995000	0.86356	0.222000	0.17699	1.839000	0.53478	0.481000	0.45027	CTG		0.368	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
ZFX	7543	broad.mit.edu	37	X	24228610	24228610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:24228610delA	ENST00000379177.1	+	11	1962	c.1535delA	c.(1534-1536)gaafs	p.E512fs	ZFX_ENST00000539115.1_Frame_Shift_Del_p.E283fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.E551fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.E462fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.E512fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.E512fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	512					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.G514fs*21(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GTGCATAAGGAAAAAGGAGCC	0.458																																					p.E283fs	Esophageal Squamous(20;306 562 7346 32868 37983)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.848delA	X						.						116.0	104.0	108.0					X																	24228610		2203	4300	6503	24138531	SO:0001589	frameshift_variant	7543	exon6				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1535delA	X.37:g.24228610delA	ENSP00000368475:p.Glu512fs		24138531	NM_001178086	B9EG97|O43668|Q8WYJ8	Frame_Shift_Del	DEL	ENST00000379177.1	37	CCDS14211.1																																																																																				0.458	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	
TAB3	257397	broad.mit.edu	37	X	30861134	30861134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:30861134delA	ENST00000378933.1	-	6	2014	c.1837delT	c.(1837-1839)tatfs	p.Y613fs	TAB3_ENST00000378928.1_3'UTR|TAB3_ENST00000378930.3_Frame_Shift_Del_p.Y613fs|TAB3_ENST00000378932.2_Intron|TAB3_ENST00000288422.2_Frame_Shift_Del_p.Y613fs	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	613					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.Y613fs*4(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATGTTGTCATAAAAATTATTC	0.294																																					p.Y613fs	Pancreas(164;1598 1985 29022 43301 49529)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1837delT	X						.						71.0	61.0	64.0					X																	30861134		2202	4300	6502	30771055	SO:0001589	frameshift_variant	257397	exon9			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1837delT	X.37:g.30861134delA	ENSP00000368215:p.Tyr613fs		30771055	NM_152787	A6NDD9|Q6VQR0	Frame_Shift_Del	DEL	ENST00000378933.1	37	CCDS14226.1																																																																																				0.294	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	
FTHL17	53940	broad.mit.edu	37	X	31090042	31090042	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:31090042C>T	ENST00000359202.3	-	1	128	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	10					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.R10H(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GTACTTCTGGCGCACCTGCGA	0.637																																					p.R10H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G29A	X						.						43.0	36.0	38.0					X																	31090042		2192	4285	6477	30999963	SO:0001583	missense	53940	exon1			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.29G>A	X.37:g.31090042C>T	ENSP00000368207:p.Arg10His		30999963	NM_031894	Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.619200	0.28801	.	.	ENSG00000132446	ENST00000359202	T	0.70986	-0.53	3.55	-4.51	0.03483	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.532999	0.17912	N	0.157806	T	0.63117	0.2484	M	0.80183	2.485	0.09310	N	1	B	0.23249	0.082	B	0.22601	0.04	T	0.54476	-0.8288	10	0.66056	D	0.02	.	4.6001	0.12348	0.4726:0.2852:0.0:0.2422	.	10	Q9BXU8	FHL17_HUMAN	H	10	ENSP00000368207:R10H	ENSP00000368207:R10H	R	-	2	0	FTHL17	30999963	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.147000	0.10234	-1.498000	0.01824	-3.511000	0.00033	CGC		0.637	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	
DMD	1756	broad.mit.edu	37	X	31514962	31514962	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:31514962C>T	ENST00000357033.4	-	57	8696	c.8490G>A	c.(8488-8490)cgG>cgA	p.R2830R	DMD_ENST00000474231.1_Silent_p.R370R|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Silent_p.R370R|DMD_ENST00000378677.2_Silent_p.R2826R|DMD_ENST00000359836.1_Silent_p.R370R|DMD_ENST00000378707.3_Silent_p.R370R|DMD_ENST00000541735.1_Silent_p.R370R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2830					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R2826R(1)|p.R1489R(1)|p.R370R(1)|p.R2825R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGGTGCCTGCCGGCTTAATT	0.498																																					p.R370R												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.G1110A	X						.						67.0	55.0	59.0					X																	31514962		2202	4300	6502	31424883	SO:0001819	synonymous_variant	1756	exon14			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8490G>A	X.37:g.31514962C>T			31424883	NM_004021	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	8.844	0.942860	0.18281	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.87	0.687	0.18020	.	.	.	.	.	T	0.51295	0.1666	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	.	5.3715	0.16142	0.2258:0.4469:0.2625:0.0649	.	.	.	.	T	559	.	.	A	-	1	0	DMD	31424883	0.388000	0.25197	0.992000	0.48379	0.992000	0.81027	-0.450000	0.06803	-0.352000	0.08237	0.594000	0.82650	GCA		0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32583902	32583902	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:32583902T>C	ENST00000357033.4	-	16	2115	c.1909A>G	c.(1909-1911)Acc>Gcc	p.T637A	DMD_ENST00000288447.4_Missense_Mutation_p.T629A|DMD_ENST00000378677.2_Missense_Mutation_p.T633A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	637					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T632A(1)|p.T633A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTTCTGGGTCACTGACTTA	0.393																																					p.T637A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1909G	X						.						163.0	134.0	144.0					X																	32583902		2202	4300	6502	32493823	SO:0001583	missense	1756	exon16			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1909A>G	X.37:g.32583902T>C	ENSP00000354923:p.Thr637Ala		32493823	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	3.487	-0.104636	0.06967	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.30714	1.52;1.52;1.52	5.28	2.01	0.26516	.	0.392406	0.16895	N	0.195164	T	0.06554	0.0168	N	0.00823	-1.155	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33137	-0.9880	10	0.02654	T	1	.	2.8489	0.05551	0.326:0.2906:0.0:0.3834	.	629;629;637;633	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	A	629;633;637;637;514;629	ENSP00000367948:T633A;ENSP00000354923:T637A;ENSP00000288447:T629A	ENSP00000288447:T629A	T	-	1	0	DMD	32493823	0.532000	0.26346	0.025000	0.17156	0.747000	0.42532	0.991000	0.29654	0.027000	0.15297	0.441000	0.28932	ACC		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
CXorf22	170063	broad.mit.edu	37	X	36007541	36007541	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:36007541C>T	ENST00000297866.5	+	16	2885	c.2819C>T	c.(2818-2820)gCg>gTg	p.A940V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	940								p.A940V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAAGGAAACGCGTTGAAGCTA	0.378																																					p.A940V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2819T	X						.						144.0	117.0	126.0					X																	36007541		2202	4300	6502	35917462	SO:0001583	missense	170063	exon16			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2819C>T	X.37:g.36007541C>T	ENSP00000297866:p.Ala940Val		35917462	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957112	0.18507	.	.	ENSG00000165164	ENST00000297866	T	0.14640	2.49	5.62	3.87	0.44632	.	0.213816	0.47852	D	0.000218	T	0.07818	0.0196	N	0.22421	0.69	0.09310	N	1	P	0.38280	0.625	B	0.28305	0.088	T	0.20371	-1.0277	10	0.49607	T	0.09	-0.1313	9.5325	0.39202	0.0:0.8241:0.0:0.1759	.	940	Q6ZTR5	CX022_HUMAN	V	940	ENSP00000297866:A940V	ENSP00000297866:A940V	A	+	2	0	CXorf22	35917462	0.000000	0.05858	0.033000	0.17914	0.002000	0.02628	0.546000	0.23284	0.545000	0.28902	-0.197000	0.12766	GCG		0.378	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
FAM47C	442444	broad.mit.edu	37	X	37028540	37028540	+	Missense_Mutation	SNP	G	G	A	rs145034356		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:37028540G>A	ENST00000358047.3	+	1	2109	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	686								p.R686H(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						CCAGAGACTCGCGTATCTCAT	0.657																																					p.R686H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2057A	X						.	G	HIS/ARG	1,3825		0,1,1628,568	32.0	31.0	31.0		2057	-1.9	0.0	X	dbSNP_134	31	0,6713		0,0,2425,1863	no	missense	FAM47C	NM_001013736.2	29	0,1,4053,2431	AA,AG,GG,G		0.0,0.0261,0.0095	benign	686/1036	37028540	1,10538	2197	4288	6485	36938461	SO:0001583	missense	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.2057G>A	X.37:g.37028540G>A	ENSP00000367913:p.Arg686His		36938461	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	2.453	-0.325816	0.05350	2.61E-4	0.0	ENSG00000198173	ENST00000358047	T	0.13778	2.56	0.933	-1.87	0.07737	.	.	.	.	.	T	0.07234	0.0183	L	0.29908	0.895	0.09310	N	1	B	0.27997	0.197	B	0.22880	0.042	T	0.31364	-0.9946	9	0.49607	T	0.09	.	0.1634	0.00105	0.2494:0.243:0.2663:0.2413	.	686	Q5HY64	FA47C_HUMAN	H	686	ENSP00000367913:R686H	ENSP00000367913:R686H	R	+	2	0	FAM47C	36938461	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.578000	0.05841	-1.420000	0.02009	-1.445000	0.01065	CGC		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
TSPAN7	7102	broad.mit.edu	37	X	38525537	38525537	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:38525537C>T	ENST00000378482.2	+	2	421	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	TSPAN7_ENST00000422612.2_Missense_Mutation_p.R108C|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R112C|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Missense_Mutation_p.R99C|TSPAN7_ENST00000545599.1_Missense_Mutation_p.R56C	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	82					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.R82C(1)|p.R77C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCTACATGTCGTGGTAGCCC	0.418																																					p.R82C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C244T	X						.						220.0	150.0	174.0					X																	38525537		2202	4300	6502	38410481	SO:0001583	missense	7102	exon2			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.244C>T	X.37:g.38525537C>T	ENSP00000367743:p.Arg82Cys		38410481	NM_004615	B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068799	0.76301	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.96	5.96	0.96718	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.982;0.985;0.969	D	0.93520	0.6860	9	.	.	.	.	19.3529	0.94398	0.0:1.0:0.0:0.0	.	99;108;82	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	C	112;82;108;99;56	ENSP00000417050:R112C;ENSP00000367743:R82C;ENSP00000388954:R108C;ENSP00000286824:R99C;ENSP00000441540:R56C	.	R	+	1	0	RP5-972B16.2;TSPAN7	38410481	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	3.600000	0.54052	2.523000	0.85059	0.594000	0.82650	CGT		0.418	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1		
MID1IP1	58526	broad.mit.edu	37	X	38664253	38664253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:38664253G>A	ENST00000336949.6	+	2	999	c.54G>A	c.(52-54)atG>atA	p.M18I	MID1IP1_ENST00000378474.3_Missense_Mutation_p.M18I|MID1IP1_ENST00000457894.1_Missense_Mutation_p.M18I|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	18					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.M18I(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TTAACGCCATGAATCGCTTCA	0.612																																					p.M18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G54A	X						.						116.0	79.0	91.0					X																	38664253		2202	4300	6502	38549197	SO:0001583	missense	58526	exon2				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.54G>A	X.37:g.38664253G>A	ENSP00000338706:p.Met18Ile		38549197	NM_001098791	D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624711	0.87560	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.046101	0.85682	D	0.000000	T	0.64864	0.2637	M	0.64567	1.98	0.80722	D	1	P	0.39094	0.659	B	0.41988	0.372	T	0.71580	-0.4550	9	0.87932	D	0	-9.0513	16.3035	0.82836	0.0:0.0:1.0:0.0	.	18	Q9NPA3	M1IP1_HUMAN	I	18	.	ENSP00000338706:M18I	M	+	3	0	MID1IP1	38549197	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.054000	0.93866	2.116000	0.64780	0.529000	0.55759	ATG		0.612	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1		
USP9X	8239	broad.mit.edu	37	X	41075439	41075439	+	Silent	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:41075439T>G	ENST00000324545.8	+	35	6252	c.5619T>G	c.(5617-5619)ggT>ggG	p.G1873G	USP9X_ENST00000378308.2_Silent_p.G1873G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1873	USP.				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.G1866G(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						TACACAGTGGTCAAGCGAGTG	0.443																																					p.G1873G	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5619G	X						.						100.0	107.0	105.0					X																	41075439		2195	4296	6491	40960383	SO:0001819	synonymous_variant	8239	exon35			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.5619T>G	X.37:g.41075439T>G			40960383	NM_001039590	O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	CCDS43930.1																																																																																				0.443	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
ELK1	2002	broad.mit.edu	37	X	47496421	47496421	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:47496421G>A	ENST00000247161.3	-	5	1278	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	ELK1_ENST00000592066.1_Silent_p.L339L|ELK1_ENST00000376983.3_Silent_p.L393L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	393	Sufficient for interaction with MAD2L2.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L393L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CCTGGAAGGAGAGCTTGGCCG	0.607																																					p.L393L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1179T	X						.						40.0	37.0	38.0					X																	47496421		2202	4299	6501	47381365	SO:0001819	synonymous_variant	2002	exon5			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1179C>T	X.37:g.47496421G>A			47381365	NM_005229	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	ENST00000247161.3	37	CCDS14283.1																																																																																				0.607	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229	
WDR13	64743	broad.mit.edu	37	X	48463306	48463306	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:48463306G>A	ENST00000218056.5	+	9	1849	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	WDR13_ENST00000376729.5_Silent_p.K448K	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	448						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K448K(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTGTCAACAAGCTGCAGGGCC	0.622																																					p.K356K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1068A	X						.						80.0	54.0	63.0					X																	48463306		2203	4300	6503	48348250	SO:0001819	synonymous_variant	64743	exon8			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1344G>A	X.37:g.48463306G>A			48348250	NM_001166426	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	CCDS14302.1																																																																																				0.622	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2		
GATA1	2623	broad.mit.edu	37	X	48650810	48650810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:48650810G>A	ENST00000376670.3	+	4	790	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	GATA1_ENST00000376665.3_Missense_Mutation_p.A227T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	227					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.A227T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCTATGCAACGCCTGCGGCCT	0.597			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																p.A227T	Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G679A	X						.						78.0	68.0	71.0					X																	48650810		2203	4300	6503	48535754	SO:0001583	missense	2623	exon4			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.679G>A	X.37:g.48650810G>A	ENSP00000365858:p.Ala227Thr		48535754	NM_002049	Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764603	0.89932	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.99784	-6.74;-6.74	4.8	4.8	0.61643	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97611	4.04	0.80722	D	1	D	0.64830	0.994	D	0.67382	0.951	D	0.96508	0.9376	10	0.87932	D	0	-15.8348	14.3637	0.66789	0.0:0.0:1.0:0.0	.	227	P15976	GATA1_HUMAN	T	227	ENSP00000365858:A227T;ENSP00000365853:A227T	ENSP00000365853:A227T	A	+	1	0	GATA1	48535754	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.605000	0.98321	1.966000	0.57179	0.492000	0.49549	GCC		0.597	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
OTUD5	55593	broad.mit.edu	37	X	48801473	48801473	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:48801473G>A	ENST00000156084.4	-	2	726	c.666C>T	c.(664-666)ggC>ggT	p.G222G	OTUD5_ENST00000396743.3_Silent_p.G222G|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Silent_p.G222G|OTUD5_ENST00000428668.2_Silent_p.G5G	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	222	Cys-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)	p.G198G(1)|p.G222G(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AGAGACAGGCGCCATCCTCCT	0.552																																					p.G222G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C666T	X						.						92.0	61.0	72.0					X																	48801473		2203	4300	6503	48686417	SO:0001819	synonymous_variant	55593	exon2				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.666C>T	X.37:g.48801473G>A			48686417	NM_001136157	B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Silent	SNP	ENST00000156084.4	37	CCDS14313.1																																																																																				0.552	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602	
GRIPAP1	56850	broad.mit.edu	37	X	48847439	48847439	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:48847439G>T	ENST00000376441.1	-	7	575	c.541C>A	c.(541-543)Ccc>Acc	p.P181T	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.P128T|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181T|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136T	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	181						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.P181T(1)|p.P128T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						AGGACGGTGGGGGCCGGGCCC	0.607																																					p.P181T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C541A	X						.						42.0	42.0	42.0					X																	48847439		2201	4300	6501	48732383	SO:0001583	missense	56850	exon7			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.541C>A	X.37:g.48847439G>T	ENSP00000365624:p.Pro181Thr		48732383	NM_020137	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560194	0.27827	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	.	.	.	4.21	2.26	0.28386	.	0.644397	0.14697	N	0.303794	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	B;B;B	0.25904	0.021;0.069;0.137	B;B;B	0.27715	0.033;0.082;0.075	T	0.24225	-1.0166	9	0.27082	T	0.32	-0.6032	7.866	0.29537	0.2267:0.0:0.7733:0.0	.	128;71;181	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	T	181;136;181;181;128	.	ENSP00000365606:P128T	P	-	1	0	GRIPAP1	48732383	0.077000	0.21312	0.003000	0.11579	0.078000	0.17371	0.065000	0.14466	0.277000	0.22141	0.556000	0.70494	CCC		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	
CACNA1F	778	broad.mit.edu	37	X	49068717	49068717	+	Missense_Mutation	SNP	C	C	T	rs151203138	byFrequency	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:49068717C>T	ENST00000376265.2	-	34	4088	c.4027G>A	c.(4027-4029)Gtc>Atc	p.V1343I	CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1278I|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1332I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1343					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V1343I(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGCCAATGACGGCATAGATG	0.547																																					p.V1343I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4027A	X						.	C	ILE/VAL	1,3834		0,1,0,1631,571	39.0	31.0	33.0		4027	5.0	1.0	X	dbSNP_134	33	1,6727		0,0,1,2428,1871	no	missense	CACNA1F	NM_005183.2	29	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	possibly-damaging	1343/1978	49068717	2,10561	2203	4300	6503	48955661	SO:0001583	missense	778	exon34			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4027G>A	X.37:g.49068717C>T	ENSP00000365441:p.Val1343Ile		48955661	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612013	0.66558	2.61E-4	1.49E-4	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98150	-4.75;-4.75;-4.75	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	L	0.49513	1.565	0.54753	D	0.999983	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.98065	1.0395	10	0.36615	T	0.2	.	16.1288	0.81412	0.0:1.0:0.0:0.0	.	1332;1343	F5CIQ9;O60840	.;CAC1F_HUMAN	I	1278;1332;1343	ENSP00000365427:V1278I;ENSP00000321618:V1332I;ENSP00000365441:V1343I	ENSP00000321618:V1332I	V	-	1	0	CACNA1F	48955661	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.959000	0.70339	2.058000	0.61347	0.544000	0.68410	GTC		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
CACNA1F	778	broad.mit.edu	37	X	49084876	49084876	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:49084876G>A	ENST00000376265.2	-	7	912	c.851C>T	c.(850-852)gCg>gTg	p.A284V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A219V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A284V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	284					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A284V(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCGAAGACGCACAGGGCGA	0.632																																					p.A284V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C851T	X						.						42.0	34.0	37.0					X																	49084876		2203	4300	6503	48971820	SO:0001583	missense	778	exon7			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.851C>T	X.37:g.49084876G>A	ENSP00000365441:p.Ala284Val		48971820	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169691	0.57584	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96491	-4.03;-3.96;-3.96	5.08	5.08	0.68730	Ion transport (1);	0.052875	0.85682	D	0.000000	D	0.96987	0.9016	M	0.73598	2.24	0.52099	D	0.999945	D;D	0.63046	0.99;0.992	P;P	0.52856	0.587;0.711	D	0.97591	1.0117	10	0.87932	D	0	.	16.3457	0.83132	0.0:0.0:1.0:0.0	.	284;284	F5CIQ9;O60840	.;CAC1F_HUMAN	V	219;284;284	ENSP00000365427:A219V;ENSP00000321618:A284V;ENSP00000365441:A284V	ENSP00000321618:A284V	A	-	2	0	CACNA1F	48971820	1.000000	0.71417	0.956000	0.39512	0.197000	0.23852	7.887000	0.87295	2.114000	0.64651	0.436000	0.28706	GCG		0.632	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
AKAP4	8852	broad.mit.edu	37	X	49958207	49958207	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:49958207C>T	ENST00000376056.2	-	5	1280	c.1130G>A	c.(1129-1131)tGc>tAc	p.C377Y	AKAP4_ENST00000376064.3_Missense_Mutation_p.C377Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.C386Y					A kinase (PRKA) anchor protein 4									p.C386Y(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GTTCTTCATGCAAGAATCAAT	0.453																																					p.C386Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	X						.						72.0	62.0	65.0					X																	49958207		2203	4300	6503	49844947	SO:0001583	missense	8852	exon5			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1130G>A	X.37:g.49958207C>T	ENSP00000365224:p.Cys377Tyr		49844947	NM_003886		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220358	0.39201	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.07021	3.23;3.23;3.23	4.77	4.77	0.60923	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000047	T	0.25195	0.0612	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.00593	-1.1654	9	.	.	.	-8.2164	12.3529	0.55159	0.0:1.0:0.0:0.0	.	386	Q5JQC9	AKAP4_HUMAN	Y	377;386;377	ENSP00000365224:C377Y;ENSP00000351327:C386Y;ENSP00000365232:C377Y	.	C	-	2	0	AKAP4	49844947	0.986000	0.35501	1.000000	0.80357	0.942000	0.58702	1.124000	0.31320	1.964000	0.57103	0.468000	0.43344	TGC		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
MAGED1	9500	broad.mit.edu	37	X	51640042	51640042	+	Missense_Mutation	SNP	G	G	A	rs200856189		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:51640042G>A	ENST00000375722.1	+	4	1543	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	MAGED1_ENST00000375695.2_Missense_Mutation_p.A487T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A431T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A431T|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	431	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				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.A487T(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGGATCCCCGCTGATTGGCC	0.632										Multiple Myeloma(10;0.10)																											p.A431T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1291A	X						.						38.0	23.0	28.0					X																	51640042		2203	4299	6502	51656782	SO:0001583	missense	9500	exon4			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.1291G>A	X.37:g.51640042G>A	ENSP00000364874:p.Ala431Thr		51656782	NM_006986	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	5.048	0.194610	0.09599	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	3.95	-1.53	0.08611	.	0.229275	0.22352	N	0.061184	T	0.22244	0.0536	N	0.22421	0.69	0.26117	N	0.980605	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.05451	-1.0884	10	0.23302	T	0.38	.	0.6294	0.00791	0.3412:0.1754:0.3066:0.1768	.	487;431	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	431;431;431;487	ENSP00000364927:A431T;ENSP00000364874:A431T;ENSP00000325333:A431T;ENSP00000364847:A487T	ENSP00000325333:A431T	A	+	1	0	MAGED1	51656782	0.846000	0.29590	0.172000	0.22920	0.647000	0.38526	1.374000	0.34283	-0.152000	0.11156	0.284000	0.19432	GCT		0.632	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
HSD17B10	3028	broad.mit.edu	37	X	53459338	53459338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:53459338G>A	ENST00000168216.6	-	3	241	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000375298.4_Nonsense_Mutation_p.Q72*|HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375304.5_Nonsense_Mutation_p.Q72*	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	72					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)	p.Q72*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						AGAGCTGTTTGCACATCCTTC	0.517																																					p.Q72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C214T	X						.						105.0	81.0	90.0					X																	53459338		2203	4300	6503	53476063	SO:0001587	stop_gained	3028	exon3			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.214C>T	X.37:g.53459338G>A	ENSP00000168216:p.Gln72*		53476063	NM_001037811	Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Nonsense_Mutation	SNP	ENST00000168216.6	37	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874029	0.72180	.	.	ENSG00000072506	ENST00000168216;ENST00000375304;ENST00000375298	.	.	.	5.93	5.93	0.95920	.	0.300838	0.39615	N	0.001303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	11.4872	0.50361	0.0:0.0:0.7073:0.2927	.	.	.	.	X	72	.	ENSP00000168216:Q72X	Q	-	1	0	HSD17B10	53476063	1.000000	0.71417	0.988000	0.46212	0.526000	0.34562	2.716000	0.47219	2.510000	0.84645	0.600000	0.82982	CAA		0.517	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493	
HUWE1	10075	broad.mit.edu	37	X	53616745	53616745	+	Missense_Mutation	SNP	C	C	A	rs181309289		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:53616745C>A	ENST00000342160.3	-	35	4680	c.4223G>T	c.(4222-4224)cGg>cTg	p.R1408L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1408L|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1408L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1408					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R1271L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCGAGCTTTCCGTTCCTCTTC	0.493																																					p.R1408L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4223T	X						.						82.0	67.0	72.0					X																	53616745		2203	4300	6503	53633470	SO:0001583	missense	10075	exon36			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4223G>T	X.37:g.53616745C>A	ENSP00000340648:p.Arg1408Leu		53633470	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847013	0.71603	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.46063	1.17;1.17;0.88	5.93	5.93	0.95920	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.14661	0.345	0.58432	D	0.999992	B;P	0.41748	0.334;0.761	B;B	0.32533	0.08;0.147	T	0.05886	-1.0858	10	0.30078	T	0.28	.	17.9436	0.89032	0.0:1.0:0.0:0.0	.	1408;1408	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	L	1408	ENSP00000340648:R1408L;ENSP00000262854:R1408L;ENSP00000218328:R1408L	ENSP00000218328:R1408L	R	-	2	0	HUWE1	53633470	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.194000	0.77789	2.513000	0.84729	0.600000	0.82982	CGG		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
ITIH6	347365	broad.mit.edu	37	X	54783779	54783779	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:54783779T>G	ENST00000218436.6	-	8	2757	c.2728A>C	c.(2728-2730)Agt>Cgt	p.S910R		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	910	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S910R(1)									CCTGTGGAACTTGAGATTGTA	0.557																																					p.S910R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2728C	X						.						100.0	89.0	93.0					X																	54783779		2203	4300	6503	54800504	SO:0001583	missense	347365	exon8			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2728A>C	X.37:g.54783779T>G	ENSP00000218436:p.Ser910Arg		54800504	NM_198510	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	9.996	1.232184	0.22626	.	.	ENSG00000102313	ENST00000218436	T	0.02579	4.24	3.38	0.712	0.18167	.	1.639110	0.04365	U	0.358064	T	0.02418	0.0074	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46317	-0.9200	10	0.39692	T	0.17	.	3.6381	0.08157	0.2181:0.0:0.2212:0.5607	.	910	Q6UXX5	ITH5L_HUMAN	R	910	ENSP00000218436:S910R	ENSP00000218436:S910R	S	-	1	0	ITIH5L	54800504	0.004000	0.15560	0.001000	0.08648	0.081000	0.17604	0.363000	0.20301	-0.043000	0.13513	0.412000	0.27726	AGT		0.557	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
PFKFB1	5207	broad.mit.edu	37	X	54971895	54971895	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:54971895G>A	ENST00000375006.3	-	10	1145	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	PFKFB1_ENST00000545676.1_Missense_Mutation_p.R294C|PFKFB1_ENST00000374992.2_Missense_Mutation_p.R159C	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	359	Fructose-2,6-bisphosphatase.			R -> H (in Ref. 5; AAA35818). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.R359C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TAGCGGTAGCGATATTTATCT	0.473																																					p.R359C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075T	X						.						133.0	103.0	113.0					X																	54971895		2203	4300	6503	54988620	SO:0001583	missense	5207	exon10				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1075C>T	X.37:g.54971895G>A	ENSP00000364145:p.Arg359Cys		54988620	NM_002625	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530774	0.64860	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T;T;T	0.72615	-0.67;-0.67;-0.67	4.93	4.93	0.64822	Histidine phosphatase superfamily, clade-1 (2);	0.148125	0.64402	D	0.000007	D	0.82637	0.5080	M	0.79475	2.455	0.80722	D	1	D;P;P	0.89917	1.0;0.878;0.922	P;B;B	0.62560	0.904;0.252;0.197	D	0.85027	0.0915	10	0.59425	D	0.04	-6.8349	16.3472	0.83146	0.0:0.0:1.0:0.0	.	294;159;359	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	C	359;294;159	ENSP00000364145:R359C;ENSP00000444074:R294C;ENSP00000364131:R159C	ENSP00000364131:R159C	R	-	1	0	PFKFB1	54988620	0.973000	0.33851	0.956000	0.39512	0.987000	0.75469	3.662000	0.54510	2.201000	0.70794	0.556000	0.70494	CGC		0.473	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
ZXDA	7789	broad.mit.edu	37	X	57935163	57935163	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:57935163C>A	ENST00000358697.4	-	1	1904	c.1692G>T	c.(1690-1692)atG>atT	p.M564I		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	564	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M564I(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GCCTTTTAACCATGTGCGTCT	0.478																																					p.M564I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1692T	X						.						68.0	63.0	65.0					X																	57935163		2196	4295	6491	57951888	SO:0001583	missense	7789	exon1			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1692G>T	X.37:g.57935163C>A	ENSP00000351530:p.Met564Ile		57951888	NM_007156	Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	6.400	0.442003	0.12164	.	.	ENSG00000198205	ENST00000358697	T	0.74947	-0.89	3.15	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.083378	0.85682	D	0.000000	T	0.68274	0.2983	M	0.62723	1.935	0.53688	D	0.999976	B	0.09022	0.002	B	0.15484	0.013	T	0.64901	-0.6298	9	.	.	.	.	11.4162	0.49954	0.0:1.0:0.0:0.0	.	564	P98168	ZXDA_HUMAN	I	564	ENSP00000351530:M564I	.	M	-	3	0	ZXDA	57951888	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.925000	0.56484	1.827000	0.53221	0.415000	0.27848	ATG		0.478	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156	
ARHGEF9	23229	broad.mit.edu	37	X	62875544	62875544	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:62875544T>C	ENST00000253401.6	-	8	1930	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E356G|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E324G|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E375G|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.E104G|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E275G	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	377	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E375G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCTGCCATCCTCAATGTCAAC	0.438																																					p.E275G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A824G	X						.						202.0	167.0	179.0					X																	62875544		2203	4300	6503	62792269	SO:0001583	missense	23229	exon7			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1130A>G	X.37:g.62875544T>C	ENSP00000253401:p.Glu377Gly		62792269	NM_001173480	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578516	0.46006	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;D;T	0.88664	-1.01;-1.01;-1.01;-1.01;-2.41;-1.01	5.54	5.54	0.83059	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.115998	0.64402	D	0.000019	D	0.90553	0.7039	M	0.90814	3.15	0.43292	D	0.995273	B;B;B;B	0.13145	0.007;0.003;0.003;0.007	B;B;B;B	0.14578	0.01;0.011;0.007;0.01	D	0.87861	0.2664	10	0.40728	T	0.16	.	13.4941	0.61414	0.0:0.0:0.0:1.0	.	324;375;377;377	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	G	377;375;324;275;104;356	ENSP00000253401:E377G;ENSP00000364012:E375G;ENSP00000399994:E324G;ENSP00000364004:E275G;ENSP00000404478:E104G;ENSP00000364006:E356G	ENSP00000253401:E377G	E	-	2	0	ARHGEF9	62792269	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.688000	0.61715	1.865000	0.54081	0.356000	0.21956	GAG		0.438	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		
ZC3H12B	340554	broad.mit.edu	37	X	64721735	64721735	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:64721735G>A	ENST00000338957.4	+	5	1224	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R375H	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	386							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R236H(1)|p.R322H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCCCAGCGTTCGGTGGCT	0.532																																					p.R386H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1157A	X						.						27.0	27.0	27.0					X																	64721735		1945	4130	6075	64638460	SO:0001583	missense	340554	exon5			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1157G>A	X.37:g.64721735G>A	ENSP00000340839:p.Arg386His		64638460	NM_001010888	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844664	0.71488	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.28895	1.59;1.6	5.0	5.0	0.66597	.	0.051704	0.85682	D	0.000000	T	0.57666	0.2069	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64024	-0.6504	10	0.87932	D	0	-23.803	15.8636	0.79043	0.0:0.0:1.0:0.0	.	375	Q5HYM0	ZC12B_HUMAN	H	386;375;322	ENSP00000340839:R386H;ENSP00000408077:R375H	ENSP00000218172:R322H	R	+	2	0	ZC3H12B	64638460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.541000	0.73865	2.047000	0.60756	0.513000	0.50165	CGT		0.532	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
AR	367	broad.mit.edu	37	X	66765795	66765795	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:66765795C>T	ENST00000374690.3	+	1	1331	c.807C>T	c.(805-807)taC>taT	p.Y269Y	AR_ENST00000504326.1_Silent_p.Y269Y|AR_ENST00000396044.3_Silent_p.Y269Y|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	267	Modulating.		P -> S (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y269Y(1)|p.Y79Y(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ATTGCATGTACGCCCCACTTT	0.597									Androgen Insensitivity Syndrome																												p.Y269Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C807T	X						.						108.0	89.0	95.0					X																	66765795		2203	4300	6503	66682520	SO:0001819	synonymous_variant	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.807C>T	X.37:g.66765795C>T			66682520	NM_000044	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	CCDS14387.1																																																																																				0.597	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
ARR3	407	broad.mit.edu	37	X	69503868	69503868	+	IGR	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:69503868C>T	ENST00000307959.8	+	0	1292				RAB41_ENST00000374473.2_Missense_Mutation_p.A175V|RAB41_ENST00000276066.4_Missense_Mutation_p.A174V	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.A175V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAGACCAGTGCCAAAACCGGT	0.388																																					p.A174V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C521T	X						.						92.0	73.0	80.0					X																	69503868		2203	4300	6503	69420593	SO:0001628	intergenic_variant	347517	exon6				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69503868C>T			69420593	NM_001032726	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104827	0.77096	.	.	ENSG00000147127	ENST00000374473;ENST00000276066	D;D	0.88818	-2.43;-2.43	3.73	3.73	0.42828	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000024	D	0.95818	0.8639	H	0.95402	3.665	0.39517	D	0.968449	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.97423	1.0010	10	0.87932	D	0	.	13.6918	0.62550	0.0:1.0:0.0:0.0	.	174;175	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	V	175;174	ENSP00000363597:A175V;ENSP00000276066:A174V	ENSP00000276066:A174V	A	+	2	0	RAB41	69420593	1.000000	0.71417	0.008000	0.14137	0.079000	0.17450	3.259000	0.51515	1.851000	0.53745	0.513000	0.50165	GCC		0.388	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	
DLG3	1741	broad.mit.edu	37	X	69670126	69670126	+	Missense_Mutation	SNP	C	C	T	rs199927598		TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:69670126C>T	ENST00000374360.3	+	5	1044	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.R289C|RNU4-81P_ENST00000363561.1_RNA|DLG3-AS1_ENST00000431103.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	271	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.R271C(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GAAGGATGGACGCCTACAGAT	0.567													C|||	2	0.000529801	0.0	0.0029	3775	,	,		12777	0.0		0.0	False		,,,				2504	0.0				p.R271C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C811T	X						.						38.0	30.0	33.0					X																	69670126		2203	4299	6502	69586851	SO:0001583	missense	1741	exon5			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.811C>T	X.37:g.69670126C>T	ENSP00000363480:p.Arg271Cys		69586851	NM_021120	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	2	0.0012055455093429777	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	18.45	3.625892	0.66901	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.45668	0.89;0.89	4.48	3.56	0.40772	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.61887	0.2383	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73668	-0.3910	9	.	.	.	.	10.4789	0.44680	0.3344:0.6656:0.0:0.0	.	271	Q92796	DLG3_HUMAN	C	289;271	ENSP00000194900:R289C;ENSP00000363480:R271C	.	R	+	1	0	DLG3	69586851	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.679000	0.46909	2.067000	0.61834	0.436000	0.28706	CGC		0.567	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	
ZMYM3	9203	broad.mit.edu	37	X	70464687	70464687	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:70464687G>A	ENST00000353904.2	-	19	3251	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P1010S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1024S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1024S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1022S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1022					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1022S(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATCCTCAGGCCCTACCAGG	0.458																																					p.P1010S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3028T	X						.						74.0	54.0	61.0					X																	70464687		2203	4300	6503	70381412	SO:0001583	missense	9203	exon19			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3064C>T	X.37:g.70464687G>A	ENSP00000343909:p.Pro1022Ser		70381412	NM_001171162	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	13.45	2.241390	0.39598	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.45276	1.48;0.9;1.48;1.47;1.48	5.18	5.18	0.71444	.	0.081823	0.52532	D	0.000061	T	0.17789	0.0427	N	0.03608	-0.345	0.36661	D	0.877944	B;B	0.13145	0.007;0.004	B;B	0.15484	0.013;0.006	T	0.23119	-1.0197	10	0.14656	T	0.56	-8.8633	8.1178	0.30953	0.0824:0.0:0.7595:0.1581	.	1010;1022	Q14202-2;Q14202	.;ZMYM3_HUMAN	S	1022;1010;1022;1024;1024	ENSP00000322845:P1022S;ENSP00000363110:P1010S;ENSP00000343909:P1022S;ENSP00000363096:P1024S;ENSP00000363100:P1024S	ENSP00000322845:P1022S	P	-	1	0	ZMYM3	70381412	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.158000	0.58150	2.391000	0.81399	0.506000	0.49869	CCT		0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
OGT	8473	broad.mit.edu	37	X	70777503	70777503	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:70777503G>A	ENST00000373719.3	+	12	1800	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D	OGT_ENST00000373701.3_Missense_Mutation_p.G518D	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	528					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.G518D(1)|p.G528D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAGAGGCACGGCAACCTGTGC	0.378																																					p.G518D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1553A	X						.						101.0	66.0	78.0					X																	70777503		2203	4300	6503	70694228	SO:0001583	missense	8473	exon12			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1583G>A	X.37:g.70777503G>A	ENSP00000362824:p.Gly528Asp		70694228	NM_181673	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369331	0.82463	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16743	2.32;2.32	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.40543	1.245	0.80722	D	1	D;D;P	0.69078	0.997;0.995;0.951	D;D;P	0.65010	0.912;0.931;0.73	T	0.01639	-1.1306	10	0.59425	D	0.04	-10.4377	19.2293	0.93831	0.0:0.0:1.0:0.0	.	402;518;528	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	D	528;518	ENSP00000362824:G528D;ENSP00000362805:G518D	ENSP00000362805:G518D	G	+	2	0	OGT	70694228	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.794000	0.99096	2.492000	0.84095	0.600000	0.82982	GGC		0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
PIN4	5303	broad.mit.edu	37	X	71416724	71416724	+	Silent	SNP	A	A	G			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:71416724A>G	ENST00000373669.2	+	3	314	c.282A>G	c.(280-282)gcA>gcG	p.A94A	PIN4_ENST00000218432.5_Silent_p.A94A|PIN4_ENST00000423432.2_Silent_p.A94A|RN7SL388P_ENST00000498736.2_RNA	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	69	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.A94A(1)		large_intestine(1)|lung(2)	3	Renal(35;0.156)					AAGTGGCCGCACAGTATAGTG	0.358																																					p.A94A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A282G	X						.						84.0	86.0	86.0					X																	71416724		2203	4300	6503	71333449	SO:0001819	synonymous_variant	5303	exon3			AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"""			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.282A>G	X.37:g.71416724A>G			71333449	NM_001170747	A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Silent	SNP	ENST00000373669.2	37	CCDS14417.1	.	.	.	.	.	.	.	.	.	.	A	8.651	0.898257	0.17686	.	.	ENSG00000102309	ENST00000446576	.	.	.	5.55	-1.99	0.07457	.	.	.	.	.	T	0.52191	0.1719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-0.1081	7.9736	0.30143	0.4147:0.4567:0.0:0.1286	.	.	.	.	R	99	.	.	H	+	2	0	PIN4	71333449	0.989000	0.36119	0.119000	0.21687	0.838000	0.47535	0.504000	0.22626	-0.071000	0.12886	0.486000	0.48141	CAC		0.358	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057175.2	NM_006223	
SATL1	340562	broad.mit.edu	37	X	84362694	84362694	+	Silent	SNP	C	C	T			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:84362694C>T	ENST00000395409.3	-	1	1280	c.720G>A	c.(718-720)agG>agA	p.R240R	SATL1_ENST00000332921.5_Silent_p.R240R|SATL1_ENST00000509231.1_Silent_p.R427R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	240	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.R427R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGTTTGGTTGCCTCGGGACTG	0.567																																					p.R427R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1281A	X						.						257.0	190.0	213.0					X																	84362694		2203	4300	6503	84249350	SO:0001819	synonymous_variant	340562	exon1			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.720G>A	X.37:g.84362694C>T			84249350	NM_001012980	A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37																																																																																					0.567	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
DIAPH2	1730	broad.mit.edu	37	X	96212916	96212916	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:96212916G>A	ENST00000324765.8	+	16	2051	c.1704G>A	c.(1702-1704)gcG>gcA	p.A568A	DIAPH2_ENST00000373049.4_Silent_p.A568A|DIAPH2_ENST00000373061.3_Silent_p.A568A|DIAPH2_ENST00000355827.4_Silent_p.A568A|DIAPH2_ENST00000373054.4_Silent_p.A564A			O60879	DIAP2_HUMAN	diaphanous-related formin 2	568	FH1.|Poly-Pro.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.A568A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CACCACCCGCGCCACCTCTAC	0.567																																					p.A568A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1704A	X						.						45.0	40.0	41.0					X																	96212916		2203	4300	6503	96099572	SO:0001819	synonymous_variant	1730	exon16			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1704G>A	X.37:g.96212916G>A			96099572	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	CCDS14467.1																																																																																				0.567	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
IDH3G	3421	broad.mit.edu	37	X	153053398	153053398	+	Silent	SNP	G	G	A			TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3966-01A-01W-1073-09	TCGA-AA-3966-10A-01W-1073-09	g.chrX:153053398G>A	ENST00000217901.5	-	7	616	c.420C>T	c.(418-420)gaC>gaT	p.D140D	IDH3G_ENST00000370092.3_Silent_p.D140D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Silent_p.D140D|IDH3G_ENST00000427365.2_Silent_p.D82D	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	140					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.D140D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCATAGAGGTCCAGGCTGG	0.607																																					p.D140D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420T	X						.						121.0	103.0	109.0					X																	153053398		2203	4300	6503	152706592	SO:0001819	synonymous_variant	3421	exon7				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.420C>T	X.37:g.153053398G>A			152706592	NM_004135	E9PDD5|Q9BUU5	Silent	SNP	ENST00000217901.5	37	CCDS14730.1																																																																																				0.607	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27		
