#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
HERC4	26091	broad.mit.edu	37	10	69750905	69750906	+	Frame_Shift_Ins	INS	-	-	A	rs370234029		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:69750905_69750906insA	ENST00000395198.3	-	12	1569_1570	c.1322_1323insT	c.(1321-1323)ttafs	p.L441fs	HERC4_ENST00000277817.6_Frame_Shift_Ins_p.L331fs|HERC4_ENST00000412272.2_Frame_Shift_Ins_p.L441fs|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Frame_Shift_Ins_p.L441fs	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	441					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L441fs*4(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACCTAACAGCTAAAAAACTTCC	0.223																																					p.L441fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1323_1324insT	10						.																																			69420912	SO:0001589	frameshift_variant	26091	exon12			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1323dupT	10.37:g.69750911_69750911dupA	ENSP00000378624:p.Leu441fs		69420911	NM_015601	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Frame_Shift_Ins	INS	ENST00000395198.3	37	CCDS41533.1																																																																																				0.223	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601	
C10orf71	118461	broad.mit.edu	37	10	50530446	50530447	+	Splice_Site	INS	-	-	AGA			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:50530446_50530447insAGA	ENST00000374144.3	+	3	144_145		c.e3-1		C10orf71_ENST00000323868.4_Splice_Site			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71											endometrium(1)	1						TTCTTTTGCAGAGAAAAAAAAA	0.421																																					.												.	.	0			.	10						.																																			50200453	SO:0001630	splice_region_variant	118461	.			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.-144-1->AGA	10.37:g.50530447_50530449dupAGA			50200452	.	A0AVL8	Splice_Site	INS	ENST00000374144.3	37	CCDS44387.1																																																																																				0.421	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	Intron
PKD2L1	9033	broad.mit.edu	37	10	102058489	102058489	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:102058489G>A	ENST00000318222.3	-	4	943	c.561C>T	c.(559-561)ttC>ttT	p.F187F	PKD2L1_ENST00000338519.3_Silent_p.F187F|PKD2L1_ENST00000353274.3_Silent_p.F187F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	187					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.F187F(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CATAGTAGATGAAGGAGTGGG	0.552																																					p.F187F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561T	10						.						83.0	83.0	83.0					10																	102058489		2203	4300	6503	102048479	SO:0001819	synonymous_variant	9033	exon4			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.561C>T	10.37:g.102058489G>A			102048479	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																				0.552	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
FBXW4	6468	broad.mit.edu	37	10	103433353	103433353	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:103433353C>T	ENST00000331272.7	-	3	1052	c.434G>A	c.(433-435)cGt>cAt	p.R145H		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	145					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.R145H(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ACCATCTGGACGGAACTGGTA	0.488																																					p.R145H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G434A	10						.						108.0	107.0	108.0					10																	103433353		2203	4300	6503	103423343	SO:0001583	missense	6468	exon3			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.434G>A	10.37:g.103433353C>T	ENSP00000359149:p.Arg145His		103423343	NM_022039	Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081261	0.55753	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.74002	-0.8	5.42	5.42	0.78866	.	0.152620	0.64402	D	0.000018	T	0.56171	0.1967	N	0.12182	0.205	0.46078	D	0.998854	B	0.17852	0.024	B	0.11329	0.006	T	0.52094	-0.8621	10	0.19147	T	0.46	-14.8537	13.8331	0.63393	0.0:0.9262:0.0:0.0737	.	145	P57775	FBXW4_HUMAN	H	145;145;58;101	ENSP00000359149:R145H	ENSP00000359149:R145H	R	-	2	0	FBXW4	103423343	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.565000	0.53798	2.704000	0.92352	0.484000	0.47621	CGT		0.488	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039	
HPS6	79803	broad.mit.edu	37	10	103826688	103826688	+	Missense_Mutation	SNP	C	C	T	rs139679441		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:103826688C>T	ENST00000299238.5	+	1	1542	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	486					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)	p.A486V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACTGAGCTGGCGGAGCAGGAA	0.592									Hermansky-Pudlak syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		18059	0.001		0.0	False		,,,				2504	0.0				p.A486V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1457T	10						.	C	VAL/ALA	0,4406		0,0,2203	52.0	54.0	53.0		1457	3.9	1.0	10	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	HPS6	NM_024747.5	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	486/776	103826688	1,13005	2203	4300	6503	103816678	SO:0001583	missense	79803	exon1	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1457C>T	10.37:g.103826688C>T	ENSP00000299238:p.Ala486Val		103816678	NM_024747	Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.423	0.078161	0.08485	0.0	1.16E-4	ENSG00000166189	ENST00000299238	T	0.73363	-0.74	4.79	3.86	0.44501	.	0.132518	0.50627	D	0.000110	T	0.47060	0.1425	N	0.16098	0.37	0.36530	D	0.870654	B	0.23650	0.089	B	0.15484	0.013	T	0.49523	-0.8931	10	0.02654	T	1	-7.5069	5.8139	0.18481	0.0:0.6974:0.0:0.3026	.	486	Q86YV9	HPS6_HUMAN	V	486	ENSP00000299238:A486V	ENSP00000299238:A486V	A	+	2	0	HPS6	103816678	1.000000	0.71417	0.981000	0.43875	0.974000	0.67602	4.554000	0.60760	2.494000	0.84150	0.561000	0.74099	GCG		0.592	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
GBF1	8729	broad.mit.edu	37	10	104126255	104126255	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:104126255C>T	ENST00000369983.3	+	19	2682	c.2422C>T	c.(2422-2424)Cgt>Tgt	p.R808C		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	808	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.R808C(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)		ATTCACAGAGCGTTGGATGGT	0.542																																					p.R809C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2425T	10						.						78.0	68.0	72.0					10																	104126255		2203	4300	6503	104116245	SO:0001583	missense	8729	exon19			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.2422C>T	10.37:g.104126255C>T	ENSP00000359000:p.Arg808Cys		104116245	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691616	0.88735	.	.	ENSG00000107862	ENST00000369983	T	0.58797	0.31	6.03	6.03	0.97812	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.084789	0.85682	D	0.000000	T	0.51176	0.1659	L	0.55743	1.74	0.45690	D	0.998607	P;P;B	0.45044	0.849;0.515;0.187	B;B;B	0.27715	0.082;0.04;0.016	T	0.61520	-0.7046	10	0.87932	D	0	-6.7645	20.5568	0.99304	0.0:1.0:0.0:0.0	.	808;808;808	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	808	ENSP00000359000:R808C	ENSP00000359000:R808C	R	+	1	0	GBF1	104116245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.698000	0.61789	2.861000	0.98227	0.655000	0.94253	CGT		0.542	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
SLK	9748	broad.mit.edu	37	10	105762642	105762642	+	Missense_Mutation	SNP	C	C	T	rs141030799		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:105762642C>T	ENST00000369755.3	+	9	2251	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	SLK_ENST00000335753.4_Missense_Mutation_p.T569M	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	569	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.T569M(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTGAGGATACGCAGAGTAAT	0.438																																					p.T569M	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1706T	10						.	C	MET/THR	0,4406		0,0,2203	78.0	78.0	78.0		1706	0.8	0.0	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLK	NM_014720.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	569/1236	105762642	1,13005	2203	4300	6503	105752632	SO:0001583	missense	9748	exon9				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1706C>T	10.37:g.105762642C>T	ENSP00000358770:p.Thr569Met		105752632	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	8.332	0.826773	0.16749	0.0	1.16E-4	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69040	-0.37;-0.37	5.88	0.785	0.18584	Protein kinase-like domain (1);	1.102210	0.06695	N	0.770377	T	0.45155	0.1328	N	0.14661	0.345	0.09310	N	1	P;P	0.39181	0.663;0.533	B;B	0.32289	0.143;0.068	T	0.36163	-0.9759	10	0.62326	D	0.03	.	6.755	0.23507	0.0:0.6196:0.1178:0.2625	.	569;569	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	M	569	ENSP00000336824:T569M;ENSP00000358770:T569M	ENSP00000336824:T569M	T	+	2	0	SLK	105752632	0.000000	0.05858	0.001000	0.08648	0.581000	0.36288	-0.942000	0.03921	0.096000	0.17463	0.555000	0.69702	ACG		0.438	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SORCS3	22986	broad.mit.edu	37	10	106849589	106849589	+	Missense_Mutation	SNP	C	C	T	rs185457886	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:106849589C>T	ENST00000369701.3	+	6	1312	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	362					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T362M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGCGGACCACGGATGGATGT	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		19136	0.002		0.0	False		,,,				2504	0.0				p.T362M	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1085T	10						.						101.0	89.0	93.0					10																	106849589		2203	4300	6503	106839579	SO:0001583	missense	22986	exon6			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1085C>T	10.37:g.106849589C>T	ENSP00000358715:p.Thr362Met		106839579	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.842	0.722029	0.15372	.	.	ENSG00000156395	ENST00000369701	T	0.30714	1.52	6.17	6.17	0.99709	VPS10 (1);	0.736835	0.13249	N	0.402203	T	0.22975	0.0555	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.09377	0.004	T	0.15235	-1.0444	10	0.46703	T	0.11	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	362	Q9UPU3	SORC3_HUMAN	M	362	ENSP00000358715:T362M	ENSP00000358715:T362M	T	+	2	0	SORCS3	106839579	0.006000	0.16342	0.011000	0.14972	0.199000	0.23934	2.150000	0.42254	2.941000	0.99782	0.655000	0.94253	ACG		0.557	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
TCF7L2	6934	broad.mit.edu	37	10	114911613	114911613	+	Silent	SNP	C	C	T	rs565119818		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:114911613C>T	ENST00000355995.4	+	10	1638	c.1131C>T	c.(1129-1131)agC>agT	p.S377S	TCF7L2_ENST00000369386.1_Silent_p.S20S|TCF7L2_ENST00000542695.1_Silent_p.S93S|TCF7L2_ENST00000538897.1_Silent_p.S377S|TCF7L2_ENST00000369389.1_Silent_p.S88S|TCF7L2_ENST00000543371.1_Silent_p.S377S|TCF7L2_ENST00000536810.1_Silent_p.S377S|TCF7L2_ENST00000534894.1_Silent_p.S377S|TCF7L2_ENST00000352065.5_Silent_p.S354S|TCF7L2_ENST00000545257.1_Silent_p.S377S|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.S354S|TCF7L2_ENST00000355717.4_Silent_p.S401S			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	377	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S377S(1)|p.S354S(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGAAAGAAAGCGCGGCCATCA	0.532			T	VTI1A	colorectal								c|||	1	0.000199681	0.0	0.0	5008	,	,		17400	0.001		0.0	False		,,,				2504	0.0				p.S350S			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1050T	10						.						70.0	68.0	69.0					10																	114911613		2203	4300	6503	114901603	SO:0001819	synonymous_variant	6934	exon9			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1131C>T	10.37:g.114911613C>T			114901603	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37																																																																																					0.532	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
DCLRE1A	9937	broad.mit.edu	37	10	115609488	115609488	+	Missense_Mutation	SNP	G	G	A	rs142138655		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:115609488G>A	ENST00000361384.2	-	2	2293	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.P459L	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	459	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.P459L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTTAACTAACGGAAGAGAAAC	0.338								Other identified genes with known or suspected DNA repair function					G|||	1	0.000199681	0.0008	0.0	5008	,	,		20926	0.0		0.0	False		,,,				2504	0.0				p.P459L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1376T	10						.	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	64.0	65.0	64.0		1376	3.6	0.1	10	dbSNP_134	64	6,8592	5.0+/-18.6	0,6,4293	yes	missense	DCLRE1A	NM_014881.3	98	0,7,6495	AA,AG,GG		0.0698,0.0227,0.0538	benign	459/1041	115609488	7,12997	2203	4299	6502	115599478	SO:0001583	missense	9937	exon2				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1376C>T	10.37:g.115609488G>A	ENSP00000355185:p.Pro459Leu		115599478	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	8.760	0.923364	0.18056	2.27E-4	6.98E-4	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.65178	-0.14;-0.14	5.63	3.6	0.41247	.	1.112800	0.06457	N	0.728801	T	0.46678	0.1405	L	0.43923	1.385	0.09310	N	1	P	0.36483	0.555	B	0.22152	0.038	T	0.27673	-1.0067	10	0.13470	T	0.59	-5.8298	7.2966	0.26397	0.0:0.2493:0.4857:0.265	.	459	Q6PJP8	DCR1A_HUMAN	L	459	ENSP00000355185:P459L;ENSP00000358311:P459L	ENSP00000355185:P459L	P	-	2	0	DCLRE1A	115599478	0.006000	0.16342	0.096000	0.21009	0.148000	0.21650	1.642000	0.37207	1.355000	0.45865	0.650000	0.86243	CCG		0.338	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
PNLIPRP2	5408	broad.mit.edu	37	10	118380828	118380828	+	RNA	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:118380828C>A	ENST00000298771.7	+	0	37				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.P4H(1)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ATGCTGCCCCCTTGGACCCTC	0.602																																					p.P5H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14A	10						.						42.0	42.0	42.0					10																	118380828		2101	4239	6340	118370818			5408	exon2			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118380828C>A			118370818	NM_005396	A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37		.	.	.	.	.	.	.	.	.	.	C	1.036	-0.680394	0.03353	.	.	ENSG00000165862	ENST00000537242	D	0.85702	-2.02	5.12	-2.89	0.05665	.	1.958350	0.03156	U	0.168648	T	0.72407	0.3456	.	.	.	0.09310	N	1	B	0.30763	0.294	B	0.22880	0.042	T	0.59820	-0.7382	9	0.87932	D	0	.	1.0412	0.01559	0.1453:0.1931:0.3075:0.3541	.	4	P54317	LIPR2_HUMAN	H	4	ENSP00000446346:P4H	ENSP00000424858:P4H	P	+	2	0	PNLIPRP2	118370818	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	0.060000	0.14342	-0.366000	0.08064	-0.310000	0.09108	CCT		0.602	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396	
WDR11	55717	broad.mit.edu	37	10	122665441	122665441	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:122665441C>T	ENST00000263461.6	+	27	3591	c.3345C>T	c.(3343-3345)caC>caT	p.H1115H	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.H1115H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGGTTGACCACCTTTGTTCTC	0.483																																					p.H1115H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3345T	10						.						134.0	123.0	126.0					10																	122665441		2203	4300	6503	122655431	SO:0001819	synonymous_variant	55717	exon27			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3345C>T	10.37:g.122665441C>T			122655431	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																				0.483	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
FGFR2	2263	broad.mit.edu	37	10	123276911	123276911	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:123276911C>T	ENST00000358487.5	-	8	1278	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	FGFR2_ENST00000351936.6_Missense_Mutation_p.D336N|FGFR2_ENST00000357555.5_Missense_Mutation_p.D247N|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000478859.1_Missense_Mutation_p.D108N|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000356226.4_Missense_Mutation_p.D221N|FGFR2_ENST00000346997.2_Missense_Mutation_p.D336N|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	336	Ig-like C2-type 3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.D247N(1)|p.D336N(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TCCCCAGCGTCCTCAAAAGTT	0.443		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.D221N			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G661A	10						.						132.0	114.0	120.0					10																	123276911		2203	4300	6503	123266901	SO:0001583	missense	2263	exon5	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1006G>A	10.37:g.123276911C>T	ENSP00000351276:p.Asp336Asn		123266901	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167600	0.94768	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000346997;ENST00000351936;ENST00000336553	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.86	5.86	0.93980	.	.	.	.	.	D	0.92341	0.7570	M	0.91561	3.22	0.80722	D	1	D;D;P;P;P	0.89917	1.0;0.999;0.949;0.71;0.474	D;D;P;B;B	0.77557	0.99;0.979;0.896;0.386;0.386	D	0.93059	0.6472	9	0.72032	D	0.01	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	221;336;355;247;221	B5A963;B5A960;D3DRD5;P21802-21;P21802-20	.;.;.;.;.	N	247;339;336;221;336;336;247	ENSP00000350166:D247N;ENSP00000351276:D336N;ENSP00000348559:D221N;ENSP00000263451:D336N;ENSP00000309878:D336N;ENSP00000337665:D247N	ENSP00000337665:D247N	D	-	1	0	FGFR2	123266901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.775000	0.95449	0.655000	0.94253	GAC		0.443	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
FGFR2	2263	broad.mit.edu	37	10	123310912	123310912	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:123310912G>A	ENST00000358487.5	-	5	788	c.516C>T	c.(514-516)gcC>gcT	p.A172A	FGFR2_ENST00000351936.6_Silent_p.A172A|FGFR2_ENST00000357555.5_Silent_p.A83A|FGFR2_ENST00000369056.1_Silent_p.A172A|FGFR2_ENST00000369061.4_Silent_p.A172A|FGFR2_ENST00000369059.1_Silent_p.A57A|FGFR2_ENST00000360144.3_Silent_p.A83A|FGFR2_ENST00000369060.4_Silent_p.A172A|FGFR2_ENST00000356226.4_Silent_p.A57A|FGFR2_ENST00000346997.2_Silent_p.A172A|FGFR2_ENST00000359354.2_Silent_p.A172A|FGFR2_ENST00000457416.2_Silent_p.A172A|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	172	Heparin-binding.|Ig-like C2-type 2.		A -> F (in PS; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.A172A(1)|p.A83A(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TGACAGTGTTGGCCGCAGGCA	0.517		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.A57A			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C171T	10						.						111.0	96.0	101.0					10																	123310912		2203	4300	6503	123300902	SO:0001819	synonymous_variant	2263	exon2	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.516C>T	10.37:g.123310912G>A			123300902	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																				0.517	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
BUB3	9184	broad.mit.edu	37	10	124920055	124920055	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:124920055T>C	ENST00000368865.4	+	5	759	c.550T>C	c.(550-552)Tgc>Cgc	p.C184R	BUB3_ENST00000538238.1_Missense_Mutation_p.C104R|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.C184R	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	184					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.C184R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCAGACTCGCTGCATACGAGC	0.458																																					p.C184R	GBM(161;1111 1985 17553 20049 26037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T550C	10						.						150.0	141.0	144.0					10																	124920055		2203	4300	6503	124910045	SO:0001583	missense	9184	exon5			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.550T>C	10.37:g.124920055T>C	ENSP00000357858:p.Cys184Arg		124910045	NM_001007793	A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781909	0.70222	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.71103	-0.54;1.55;-0.54;-0.54	5.23	4.06	0.47325	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.098210	0.64402	D	0.000001	D	0.82995	0.5158	M	0.87180	2.865	0.80722	D	1	P;D	0.61080	0.919;0.989	P;P	0.61201	0.736;0.885	D	0.84609	0.0677	10	0.66056	D	0.02	-9.3977	11.4847	0.50346	0.1349:0.0:0.0:0.8651	.	184;184	O43684;O43684-2	BUB3_HUMAN;.	R	184;104;184;184	ENSP00000357858:C184R;ENSP00000444354:C104R;ENSP00000357851:C184R;ENSP00000383941:C184R	ENSP00000357851:C184R	C	+	1	0	BUB3	124910045	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.232000	0.72313	0.878000	0.35920	0.533000	0.62120	TGC		0.458	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1		
DHX32	55760	broad.mit.edu	37	10	127548239	127548239	+	Missense_Mutation	SNP	C	C	T	rs370273918		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:127548239C>T	ENST00000284690.3	-	3	1272	c.782G>A	c.(781-783)cGc>cAc	p.R261H	DHX32_ENST00000284688.6_Missense_Mutation_p.R261H	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	261						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R261H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAGATAAGGCGTAAAATAGA	0.388																																					p.R261H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G782A	10						.	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	78.0	83.0	81.0		782	0.7	0.6	10		81	0,8600		0,0,4300	no	missense	DHX32	NM_018180.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	261/744	127548239	2,13004	2203	4300	6503	127538229	SO:0001583	missense	55760	exon3				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.782G>A	10.37:g.127548239C>T	ENSP00000284690:p.Arg261His		127538229	NM_018180	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103761	0.56291	4.54E-4	0.0	ENSG00000089876	ENST00000284690;ENST00000284688	T;T	0.12774	2.65;2.65	4.84	0.659	0.17861	.	0.252102	0.36519	N	0.002557	T	0.21921	0.0528	M	0.77820	2.39	0.09310	N	1	B;D	0.63046	0.071;0.992	B;P	0.48738	0.014;0.588	T	0.11690	-1.0577	10	0.87932	D	0	-6.4317	9.9421	0.41587	0.0:0.6681:0.0:0.3319	.	261;261	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	H	261	ENSP00000284690:R261H;ENSP00000284688:R261H	ENSP00000284688:R261H	R	-	2	0	DHX32	127538229	0.979000	0.34478	0.638000	0.29380	0.993000	0.82548	2.237000	0.43061	0.259000	0.21709	-0.150000	0.13652	CGC		0.388	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
PITRM1	10531	broad.mit.edu	37	10	3212380	3212380	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:3212380C>T	ENST00000224949.4	-	2	109	c.75G>A	c.(73-75)gcG>gcA	p.A25A	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.A25A|PITRM1_ENST00000451104.2_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	25					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.A25A(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TCCATCGCCACGCTCTGTGGT	0.453																																					p.A25A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	10						.						107.0	106.0	106.0					10																	3212380		1991	4190	6181	3202380	SO:0001819	synonymous_variant	10531	exon2			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.75G>A	10.37:g.3212380C>T			3202380	NM_014889	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	C	6.206	0.406147	0.11754	.	.	ENSG00000107959	ENST00000380980	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.19575	N	0.999962	.	.	.	.	.	.	T	0.53114	-0.8484	5	0.54805	T	0.06	.	9.9728	0.41765	0.0:0.331:0.4235:0.2454	.	.	.	.	M	28	.	ENSP00000370367:V28M	V	-	1	0	PITRM1	3202380	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.086000	0.00611	-1.946000	0.01035	-0.229000	0.12294	GTG		0.453	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
SFMBT2	57713	broad.mit.edu	37	10	7239562	7239562	+	Missense_Mutation	SNP	G	G	A	rs571445543		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:7239562G>A	ENST00000361972.4	-	15	1736	c.1646C>T	c.(1645-1647)gCa>gTa	p.A549V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A549V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	549					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			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						AGGTAGCTCTGCAATCCTTCC	0.498																																					p.A549V												.	.	0			c.C1646T	10						.						124.0	114.0	117.0					10																	7239562		2203	4300	6503	7279568	SO:0001583	missense	57713	exon15			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.1646C>T	10.37:g.7239562G>A	ENSP00000355109:p.Ala549Val		7279568	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539459	0.85917	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.48836	0.8;0.8	5.07	5.07	0.68467	.	0.102590	0.64402	D	0.000003	T	0.65176	0.2666	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	T	0.65804	-0.6079	10	0.46703	T	0.11	.	18.4708	0.90774	0.0:0.0:1.0:0.0	.	549	Q5VUG0	SMBT2_HUMAN	V	549	ENSP00000355109:A549V;ENSP00000380353:A549V	ENSP00000355109:A549V	A	-	2	0	SFMBT2	7279568	1.000000	0.71417	0.555000	0.28281	0.460000	0.32559	9.707000	0.98725	2.355000	0.79922	0.557000	0.71058	GCA		0.498	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
OPTN	10133	broad.mit.edu	37	10	13174189	13174189	+	Silent	SNP	C	C	T	rs531109316		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:13174189C>T	ENST00000378748.3	+	14	1886	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	OPTN_ENST00000378752.3_Silent_p.D502D|OPTN_ENST00000378757.2_Silent_p.D508D|OPTN_ENST00000263036.5_Silent_p.D508D|OPTN_ENST00000378747.3_Silent_p.D508D|OPTN_ENST00000378764.2_Silent_p.D502D	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	508	Interaction with HD.|Interaction with MYO6.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.D508D(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCGAAGACGGAGGCAGGT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		18069	0.001		0.0	False		,,,				2504	0.0				p.D508D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1524T	10						.						98.0	94.0	95.0					10																	13174189		2203	4300	6503	13214195	SO:0001819	synonymous_variant	10133	exon12			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1524C>T	10.37:g.13174189C>T			13214195	NM_021980	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Silent	SNP	ENST00000378748.3	37	CCDS7094.1																																																																																				0.483	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980	
SUV39H2	79723	broad.mit.edu	37	10	14943142	14943142	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:14943142A>G	ENST00000354919.6	+	5	1007	c.1007A>G	c.(1006-1008)aAt>aGt	p.N336S	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.N276S|SUV39H2_ENST00000378325.3_Missense_Mutation_p.N156S	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	336	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N276S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGTGACCCAAATCTTCAGGTG	0.378																																					p.N96S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A287G	10						.						147.0	132.0	137.0					10																	14943142		2203	4300	6503	14983148	SO:0001583	missense	79723	exon5			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.1007A>G	10.37:g.14943142A>G	ENSP00000346997:p.Asn336Ser		14983148	NM_001193427	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.1|28.1	4.890898|4.890898	0.91889|0.91889	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000358298|ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519	.|D;D;D;D	.|0.98090	.|-4.71;-4.28;-4.71;-4.71	5.87|5.87	5.87|5.87	0.94306|0.94306	.|SET domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99001|0.99001	0.9659|0.9659	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.981;1.0	D|D	0.99636|0.99636	1.0987|1.0987	5|10	.|0.87932	.|D	.|0	.|.	15.7569|15.7569	0.78037|0.78037	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|336;156	.|Q9H5I1;Q9H5I1-3	.|SUV92_HUMAN;.	V|S	102|96;156;336;276	.|ENSP00000388968:N96S;ENSP00000367576:N156S;ENSP00000346997:N336S;ENSP00000319208:N276S	.|ENSP00000319208:N276S	I|N	+|+	1|2	0|0	SUV39H2|SUV39H2	14983148|14983148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.257000|9.257000	0.95545|0.95545	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.378	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670	
CUBN	8029	broad.mit.edu	37	10	16867000	16867000	+	Missense_Mutation	SNP	C	C	T	rs564429505		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:16867000C>T	ENST00000377833.4	-	67	10911	c.10846G>A	c.(10846-10848)Gca>Aca	p.A3616T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3616	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A3616T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATCGGAATGCGGATGGACGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18301	0.0		0.0	False		,,,				2504	0.001				p.A3616T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10846A	10						.						121.0	87.0	99.0					10																	16867000		2203	4300	6503	16907006	SO:0001583	missense	8029	exon67			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10846G>A	10.37:g.16867000C>T	ENSP00000367064:p.Ala3616Thr		16907006	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375860	0.82682	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.18338	2.22	5.43	4.51	0.55191	CUB (5);	0.167404	0.28290	N	0.015900	T	0.16300	0.0392	L	0.47716	1.5	0.80722	D	1	P	0.38582	0.638	B	0.31337	0.128	T	0.02464	-1.1155	10	0.72032	D	0.01	.	15.3799	0.74648	0.1405:0.8595:0.0:0.0	.	3616	O60494	CUBN_HUMAN	T	3616;457	ENSP00000367064:A3616T	ENSP00000367064:A3616T	A	-	1	0	CUBN	16907006	1.000000	0.71417	0.046000	0.18839	0.006000	0.05464	4.616000	0.61197	1.257000	0.44085	0.557000	0.71058	GCA		0.468	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CACNB2	783	broad.mit.edu	37	10	18827213	18827213	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:18827213T>C	ENST00000324631.7	+	13	1467	c.1407T>C	c.(1405-1407)agT>agC	p.S469S	CACNB2_ENST00000377328.1_Silent_p.S219S|CACNB2_ENST00000377329.4_Silent_p.S415S|CACNB2_ENST00000377315.4_Silent_p.S421S|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Silent_p.S376S|CACNB2_ENST00000282343.8_Silent_p.S441S|CACNB2_ENST00000377331.2_Silent_p.S417S|CACNB2_ENST00000352115.6_Silent_p.S445S|CACNB2_ENST00000396576.2_Silent_p.S414S	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	469					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.S414S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCCAGCAGTAGCCTCCCCA	0.527																																					p.S469S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1407C	10						.						192.0	183.0	186.0					10																	18827213		2203	4300	6503	18867219	SO:0001819	synonymous_variant	783	exon13			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1407T>C	10.37:g.18827213T>C			18867219	NM_201596	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	CCDS7125.1																																																																																				0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	
ARMC3	219681	broad.mit.edu	37	10	23297767	23297767	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:23297767C>T	ENST00000298032.5	+	16	2036	c.1952C>T	c.(1951-1953)gCt>gTt	p.A651V	ARMC3_ENST00000409983.3_Missense_Mutation_p.A644V|ARMC3_ENST00000409049.3_Missense_Mutation_p.A651V|ARMC3_ENST00000376528.4_Missense_Mutation_p.A388V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	651						extracellular vesicular exosome (GO:0070062)		p.A651V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATTTTAGTGCTGGATTTGGA	0.353																																					p.A651V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1952T	10						.						56.0	54.0	55.0					10																	23297767		2203	4300	6503	23337773	SO:0001583	missense	219681	exon16			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1952C>T	10.37:g.23297767C>T	ENSP00000298032:p.Ala651Val		23337773	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	c	9.780	1.175144	0.21704	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	T;T;T;T	0.37915	1.17;1.19;1.17;2.4	5.51	2.51	0.30379	.	1.249990	0.05437	N	0.546995	T	0.26011	0.0634	N	0.24115	0.695	0.09310	N	1	B;B	0.18741	0.03;0.018	B;B	0.20955	0.032;0.01	T	0.19386	-1.0307	10	0.30078	T	0.28	-0.8424	7.114	0.25407	0.0:0.5823:0.2463:0.1714	.	644;651	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	651;644;651;388	ENSP00000298032:A651V;ENSP00000386943:A644V;ENSP00000387288:A651V;ENSP00000365711:A388V	ENSP00000298032:A651V	A	+	2	0	ARMC3	23337773	0.000000	0.05858	0.634000	0.29324	0.542000	0.35054	0.254000	0.18314	1.325000	0.45301	0.447000	0.29281	GCT		0.353	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
MSRB2	22921	broad.mit.edu	37	10	23393132	23393132	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:23393132C>A	ENST00000376510.3	+	2	281	c.178C>A	c.(178-180)Ccg>Acg	p.P60T		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	60					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P60T(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GAAACTAACCCCGGAGCAGTT	0.438																																					p.P60T	Esophageal Squamous(89;1240 1363 4973 30188 42299)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178A	10						.						82.0	79.0	80.0					10																	23393132		1907	4127	6034	23433138	SO:0001583	missense	22921	exon2			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.178C>A	10.37:g.23393132C>A	ENSP00000365693:p.Pro60Thr		23433138	NM_012228	Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419750	0.62622	.	.	ENSG00000148450	ENST00000376510	T	0.78816	-1.21	4.79	4.79	0.61399	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.000000	0.85682	D	0.000000	D	0.89438	0.6715	M	0.90145	3.09	0.46044	D	0.998839	D	0.71674	0.998	D	0.76071	0.987	D	0.91235	0.5017	10	0.87932	D	0	12.623	14.0442	0.64695	0.0:1.0:0.0:0.0	.	60	Q9Y3D2	MSRB2_HUMAN	T	60	ENSP00000365693:P60T	ENSP00000365693:P60T	P	+	1	0	MSRB2	23433138	0.798000	0.28890	0.985000	0.45067	0.850000	0.48378	2.641000	0.46587	2.587000	0.87381	0.557000	0.71058	CCG		0.438	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228	
ARHGAP21	57584	broad.mit.edu	37	10	24889827	24889827	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:24889827C>T	ENST00000396432.2	-	14	3366	c.2880G>A	c.(2878-2880)caG>caA	p.Q960Q	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Silent_p.Q747Q	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	959	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.Q959Q(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						CAACATACATCTGTTTCCATG	0.423																																					p.Q960Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2880A	10						.						110.0	106.0	107.0					10																	24889827		2203	4300	6503	24929833	SO:0001819	synonymous_variant	57584	exon14			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.2880G>A	10.37:g.24889827C>T			24929833	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	CCDS7144.2																																																																																				0.423	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
ANKRD26	22852	broad.mit.edu	37	10	27326939	27326939	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:27326939G>A	ENST00000376087.4	-	22	2585	c.2420C>T	c.(2419-2421)aCg>aTg	p.T807M	ANKRD26_ENST00000376070.3_Missense_Mutation_p.T364M|ANKRD26_ENST00000436985.2_Missense_Mutation_p.T823M	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	806					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.T807M(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCATACAACGTATCAGCATT	0.308																																					p.T807M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2420T	10						.						138.0	120.0	126.0					10																	27326939		1822	4073	5895	27366945	SO:0001583	missense	22852	exon22			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2420C>T	10.37:g.27326939G>A	ENSP00000365255:p.Thr807Met		27366945	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	5.266	0.234578	0.09969	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.13538	2.58;2.58;2.58	5.15	0.378	0.16204	.	0.565570	0.15742	N	0.246867	T	0.01976	0.0062	N	0.00170	-1.935	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	0.41770	-0.9490	10	0.02654	T	1	.	5.7529	0.18156	0.441:0.0:0.0757:0.4832	.	807;806;823	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	M	364;807;823	ENSP00000365238:T364M;ENSP00000365255:T807M;ENSP00000405112:T823M	ENSP00000365238:T364M	T	-	2	0	ANKRD26	27366945	0.168000	0.22989	0.000000	0.03702	0.986000	0.74619	1.042000	0.30303	-0.460000	0.07003	-0.352000	0.07741	ACG		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ITGB1	3688	broad.mit.edu	37	10	33197399	33197399	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:33197399A>G	ENST00000396033.2	-	15	2363	c.2228T>C	c.(2227-2229)aTt>aCt	p.I743T	ITGB1_ENST00000374956.4_Missense_Mutation_p.I743T|ITGB1_ENST00000423113.1_Missense_Mutation_p.I743T|ITGB1_ENST00000302278.3_Missense_Mutation_p.I743T	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	743					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|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 endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.I743T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGCAAGGCCAATAAGAACAAT	0.393																																					p.I743T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2228C	10						.						92.0	85.0	87.0					10																	33197399		2203	4296	6499	33237405	SO:0001583	missense	3688	exon15			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2228T>C	10.37:g.33197399A>G	ENSP00000379350:p.Ile743Thr		33237405	NM_133376	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.441271	0.83993	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.91792	-2.91;-2.9;-2.91;-2.89	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.999;0.962;0.998	D	0.96884	0.9648	10	0.72032	D	0.01	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	743;743;743;743;743	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	T	743	ENSP00000379350:I743T;ENSP00000388694:I743T;ENSP00000303351:I743T;ENSP00000364094:I743T	ENSP00000303351:I743T	I	-	2	0	ITGB1	33237405	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.339000	0.96797	2.231000	0.72958	0.454000	0.30748	ATT		0.393	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
PARD3	56288	broad.mit.edu	37	10	34408545	34408545	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:34408545G>A	ENST00000374789.3	-	24	3998	c.3673C>T	c.(3673-3675)Cct>Tct	p.P1225S	PARD3_ENST00000374794.3_Missense_Mutation_p.P1113S|PARD3_ENST00000545260.1_Missense_Mutation_p.P1135S|PARD3_ENST00000374790.3_Missense_Mutation_p.P1165S|PARD3_ENST00000374788.3_Missense_Mutation_p.P1222S|PARD3_ENST00000545693.1_Missense_Mutation_p.P1209S|PARD3_ENST00000346874.4_Missense_Mutation_p.P1188S|PARD3_ENST00000350537.4_Missense_Mutation_p.P1179S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1225					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P1225S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATACCGAGGCAGAGAGCTG	0.672																																					p.P1188S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3562T	10						.						20.0	20.0	20.0					10																	34408545		2202	4299	6501	34448551	SO:0001583	missense	56288	exon23			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3673C>T	10.37:g.34408545G>A	ENSP00000363921:p.Pro1225Ser		34448551	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814159	0.90790	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.34072	2.11;1.95;2.2;2.2;1.4;1.38;1.95;2.12	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.994;0.999;0.999;0.999;0.999;0.999;0.998	T	0.61247	-0.7101	10	0.62326	D	0.03	.	19.172	0.93581	0.0:0.0:1.0:0.0	.	1113;1135;1142;1179;1209;1188;1222;1225	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	S	1209;1135;1225;1222;1188;1113;1179;1165	ENSP00000443147:P1209S;ENSP00000440857:P1135S;ENSP00000363921:P1225S;ENSP00000363920:P1222S;ENSP00000340591:P1188S;ENSP00000363926:P1113S;ENSP00000311986:P1179S;ENSP00000363922:P1165S	ENSP00000340591:P1188S	P	-	1	0	PARD3	34448551	1.000000	0.71417	0.986000	0.45419	0.699000	0.40488	9.410000	0.97335	2.541000	0.85698	0.650000	0.86243	CCT		0.672	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
ZNF33A	7581	broad.mit.edu	37	10	38306236	38306236	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:38306236C>A	ENST00000458705.2	+	4	330	c.172C>A	c.(172-174)Cca>Aca	p.P58T	ZNF33A_ENST00000432900.2_Missense_Mutation_p.P65T|ZNF33A_ENST00000307441.9_Missense_Mutation_p.P58T|ZNF33A_ENST00000374618.3_Missense_Mutation_p.P58T|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.P58T			Q06730	ZN33A_HUMAN	zinc finger protein 33A	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P58T(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGTTCACAAACCAGAGGTGAT	0.458																																					p.P58T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172A	10						.						138.0	133.0	135.0					10																	38306236		2203	4300	6503	38346242	SO:0001583	missense	7581	exon4			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.172C>A	10.37:g.38306236C>A	ENSP00000387713:p.Pro58Thr		38346242	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202113	0.58234	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441;ENST00000265892	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	3.58	3.58	0.41010	Krueppel-associated box (3);	.	.	.	.	T	0.71962	0.3402	M	0.90483	3.12	0.26473	N	0.975249	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.996;0.989;0.996;0.992	T	0.62609	-0.6818	9	0.62326	D	0.03	.	10.8649	0.46849	0.0:1.0:0.0:0.0	.	65;58;58;58	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	T	58;65;58;58;58;18	ENSP00000363747:P58T;ENSP00000402467:P65T;ENSP00000387713:P58T;ENSP00000304268:P58T	ENSP00000265892:P18T	P	+	1	0	ZNF33A	38346242	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	3.007000	0.49536	2.010000	0.58986	0.462000	0.41574	CCA		0.458	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
ZNF33A	7581	broad.mit.edu	37	10	38343823	38343823	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:38343823T>C	ENST00000458705.2	+	5	926	c.768T>C	c.(766-768)tgT>tgC	p.C256C	ZNF33A_ENST00000432900.2_Silent_p.C263C|ZNF33A_ENST00000307441.9_Silent_p.C256C|ZNF33A_ENST00000374618.3_Silent_p.C257C|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	256					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.C256C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GAACTTTGTGTGATAGTTCAT	0.393																																					p.C257C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T771C	10						.						75.0	70.0	71.0					10																	38343823		2203	4300	6503	38383829	SO:0001819	synonymous_variant	7581	exon5			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.768T>C	10.37:g.38343823T>C			38383829	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	CCDS31182.1																																																																																				0.393	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
RET	5979	broad.mit.edu	37	10	43617398	43617398	+	Missense_Mutation	SNP	G	G	T	rs78347871		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:43617398G>T	ENST00000355710.3	+	16	2967	c.2735G>T	c.(2734-2736)cGg>cTg	p.R912L	RET_ENST00000340058.5_Missense_Mutation_p.R912L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	912	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R912L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTTTAGGGTCGGATTCCAGTT	0.453		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												p.R912L	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2735T	10	GRCh37	CM020769|CM041827	RET	M	rs78347871	.	G	LEU/ARG,LEU/ARG	0,4406		0,0,2203	232.0	218.0	222.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2735,2735	5.4	1.0	10	dbSNP_131	222	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RET	NM_020630.4,NM_020975.4	102,102	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	912/1073,912/1115	43617398	2,13004	2203	4300	6503	42937404	SO:0001583	missense	5979	exon16	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2735G>T	10.37:g.43617398G>T	ENSP00000347942:p.Arg912Leu		42937404	NM_020975	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342314	0.95783	0.0	2.33E-4	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.88664	-2.41;-2.41	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	N	0.17564	0.495	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	0.92182	0.5752	10	0.87932	D	0	.	19.6058	0.95582	0.0:0.0:1.0:0.0	.	658;912;912	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	L	912	ENSP00000347942:R912L;ENSP00000344798:R912L	ENSP00000344798:R912L	R	+	2	0	RET	42937404	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.799000	0.99117	2.722000	0.93159	0.655000	0.94253	CGG		0.453	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
RASSF4	83937	broad.mit.edu	37	10	45467223	45467223	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:45467223C>T	ENST00000340258.5	+	3	178	c.65C>T	c.(64-66)tCg>tTg	p.S22L	RASSF4_ENST00000374417.2_Missense_Mutation_p.S22L|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					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.S22L(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTTTTAGGTCGGAGCTCTTA	0.537																																					p.S22L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C65T	10						.						205.0	167.0	180.0					10																	45467223		2203	4300	6503	44787229	SO:0001583	missense	83937	exon3			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.65C>T	10.37:g.45467223C>T	ENSP00000339692:p.Ser22Leu		44787229	NM_032023	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007857	0.54361	.	.	ENSG00000107551	ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T	0.29655	1.56;2.42;1.56;1.56	5.34	5.34	0.76211	.	0.165305	0.46758	N	0.000266	T	0.56673	0.2001	M	0.76838	2.35	0.80722	D	1	D;P	0.89917	1.0;0.927	D;B	0.76575	0.988;0.319	T	0.59590	-0.7426	10	0.66056	D	0.02	-0.9733	14.9095	0.70746	0.0:1.0:0.0:0.0	.	113;22	Q59FL4;Q9H2L5	.;RASF4_HUMAN	L	22;22;22;22;15;113	ENSP00000363538:S22L;ENSP00000339692:S22L;ENSP00000409767:S22L;ENSP00000413468:S15L	ENSP00000339692:S22L	S	+	2	0	RASSF4	44787229	0.999000	0.42202	0.991000	0.47740	0.659000	0.38960	3.850000	0.55918	2.667000	0.90743	0.655000	0.94253	TCG		0.537	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023	
SYT15	83849	broad.mit.edu	37	10	46967712	46967712	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:46967712C>T	ENST00000374321.4	-	4	431	c.365G>A	c.(364-366)tGt>tAt	p.C122Y	SYT15_ENST00000374325.3_Missense_Mutation_p.C122Y|SYT15_ENST00000503753.1_Missense_Mutation_p.C122Y|SYT15_ENST00000374323.4_Missense_Mutation_p.C175Y|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C122Y(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCACCATACATGCATCTCC	0.632																																					p.C122Y	Ovarian(57;1152 1428 19651 37745)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365A	10						.						110.0	125.0	120.0					10																	46967712		2069	4201	6270	46387718	SO:0001583	missense	83849	exon4			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.365G>A	10.37:g.46967712C>T	ENSP00000363441:p.Cys122Tyr		46387718	NM_181519	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	0.041	-1.286364	0.01387	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.13420	2.66;2.66;2.89;2.88;2.59	4.92	1.39	0.22231	.	0.476618	0.24136	N	0.041218	T	0.06234	0.0161	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40683	-0.9550	10	0.02654	T	1	.	3.3045	0.06994	0.0:0.4653:0.2054:0.3293	.	122;122	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	Y	122;122;122;175;122;6	ENSP00000363445:C122Y;ENSP00000427607:C122Y;ENSP00000363443:C175Y;ENSP00000363441:C122Y;ENSP00000424803:C6Y	ENSP00000363441:C122Y	C	-	2	0	SYT15	46387718	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.349000	0.33998	0.557000	0.29117	0.655000	0.94253	TGT		0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
C10orf71	118461	broad.mit.edu	37	10	50531568	50531568	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:50531568G>T	ENST00000374144.3	+	3	1266	c.978G>T	c.(976-978)caG>caT	p.Q326H	C10orf71_ENST00000323868.4_Missense_Mutation_p.Q326H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	326								p.Q326H(1)		endometrium(1)	1						CTCCCTGCCAGGTCCAGGCCA	0.587																																					p.Q326H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G978T	10						.						53.0	59.0	57.0					10																	50531568		2016	4174	6190	50201574	SO:0001583	missense	118461	exon3			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.978G>T	10.37:g.50531568G>T	ENSP00000363259:p.Gln326His		50201574	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	0.258	-1.001480	0.02128	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14893	2.47;3.6	5.53	-11.1	0.00147	.	0.638206	0.13801	N	0.361843	T	0.06325	0.0163	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.09840	-1.0656	10	0.23891	T	0.37	.	6.408	0.21676	0.1013:0.3649:0.3869:0.1469	.	326	Q711Q0-3	.	H	326	ENSP00000318713:Q326H;ENSP00000363259:Q326H	ENSP00000318713:Q326H	Q	+	3	2	C10orf71	50201574	0.308000	0.24509	0.000000	0.03702	0.020000	0.10135	-0.014000	0.12656	-3.388000	0.00173	-0.302000	0.09304	CAG		0.587	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
FAM13C	220965	broad.mit.edu	37	10	61122165	61122165	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:61122165A>G	ENST00000373868.2	-	1	143	c.56T>C	c.(55-57)gTa>gCa	p.V19A	FAM13C_ENST00000277705.6_Missense_Mutation_p.V19A|FAM13C_ENST00000442566.3_Missense_Mutation_p.V19A|FAM13C_ENST00000435852.2_Missense_Mutation_p.V19A|FAM13C_ENST00000419214.2_Missense_Mutation_p.V19A|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.V19A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	19								p.V19A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTACTCTGTTACAGTGGTGCT	0.493																																					p.V19A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T56C	10						.						118.0	101.0	107.0					10																	61122165		2203	4300	6503	60792171	SO:0001583	missense	220965	exon1			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.56T>C	10.37:g.61122165A>G	ENSP00000362975:p.Val19Ala		60792171	NM_001001971	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726446	0.48833	.	.	ENSG00000148541	ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	4.98	2.63	0.31362	.	0.252703	0.26153	N	0.026029	T	0.62756	0.2454	L	0.60455	1.87	0.80722	D	1	P;B;P	0.50443	0.935;0.001;0.935	P;B;P	0.50708	0.648;0.006;0.648	T	0.64054	-0.6497	10	0.72032	D	0.01	.	7.4617	0.27300	0.7759:0.1459:0.0782:0.0	.	19;19;19	B7Z2K3;Q8NE31-3;Q8NE31	.;.;FA13C_HUMAN	A	19	ENSP00000362975:V19A;ENSP00000395661:V19A;ENSP00000277705:V19A;ENSP00000391993:V19A;ENSP00000392302:V19A;ENSP00000400241:V19A	ENSP00000277705:V19A	V	-	2	0	FAM13C	60792171	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.315000	0.43752	0.990000	0.38787	0.533000	0.62120	GTA		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
ARID5B	84159	broad.mit.edu	37	10	63817050	63817050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:63817050C>T	ENST00000279873.7	+	6	1431	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.R98*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	341	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.R341*(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCCGATAGAACGAATACCCTA	0.363																																					p.R341X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1021T	10						.						100.0	108.0	105.0					10																	63817050		2203	4300	6503	63487056	SO:0001587	stop_gained	84159	exon6			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1021C>T	10.37:g.63817050C>T	ENSP00000279873:p.Arg341*		63487056	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Nonsense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	42	9.405478	0.99161	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	.	.	.	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7263	14.0383	0.64658	0.2749:0.725:0.0:0.0	.	.	.	.	X	341;98	.	ENSP00000279873:R341X	R	+	1	2	ARID5B	63487056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.630000	0.37081	1.489000	0.48450	0.655000	0.94253	CGA		0.363	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
ARID5B	84159	broad.mit.edu	37	10	63852118	63852118	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:63852118delA	ENST00000279873.7	+	10	3306	c.2896delA	c.(2896-2898)aaafs	p.K967fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K724fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	967					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.K967fs*15(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GTCAGGCCCTAAAAAATACCC	0.522																																					p.K966fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2896delA	10						.						87.0	93.0	91.0					10																	63852118		2203	4300	6503	63522124	SO:0001589	frameshift_variant	84159	exon10			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2896delA	10.37:g.63852118delA	ENSP00000279873:p.Lys967fs		63522124	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	CCDS31208.1																																																																																				0.522	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
VPS26A	9559	broad.mit.edu	37	10	70922261	70922261	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:70922261A>G	ENST00000373382.1	+	7	1304	c.651A>G	c.(649-651)acA>acG	p.T217T	VPS26A_ENST00000263559.6_Silent_p.T217T|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Silent_p.T217T|VPS26A_ENST00000489794.1_Silent_p.T192T|VPS26A_ENST00000546041.1_Silent_p.T200T|VPS26A_ENST00000541711.1_Silent_p.T106T			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	217					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)	p.T217T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AAGAGATCACAGGAATTGGTA	0.244																																					p.T217T	Colon(90;545 1358 4729 6702 16773)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A651G	10						.						33.0	37.0	36.0					10																	70922261		2198	4286	6484	70592267	SO:0001819	synonymous_variant	9559	exon6			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.651A>G	10.37:g.70922261A>G			70592267	NM_001035260	A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	CCDS7286.1																																																																																				0.244	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896	
AIFM2	84883	broad.mit.edu	37	10	71874718	71874718	+	Missense_Mutation	SNP	C	C	T	rs138906337		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:71874718C>T	ENST00000307864.1	-	8	1141	c.928G>A	c.(928-930)Gtc>Atc	p.V310I	AIFM2_ENST00000373248.1_Missense_Mutation_p.V310I|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	310					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V310I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ACAGAGTTGACGATGTTGGCC	0.572																																					p.V310I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	10						.	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	56.0	47.0	50.0		928,928	-2.5	0.7	10	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	AIFM2	NM_001198696.1,NM_032797.5	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	310/374,310/374	71874718	2,13004	2203	4300	6503	71544724	SO:0001583	missense	84883	exon8			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.928G>A	10.37:g.71874718C>T	ENSP00000312370:p.Val310Ile		71544724	NM_001198696	B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	3.250	-0.153518	0.06585	0.0	2.33E-4	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.29397	1.57;1.57	5.8	-2.5	0.06384	.	1.088410	0.06862	N	0.799242	T	0.15998	0.0385	N	0.14661	0.345	0.19300	N	0.99998	B	0.02656	0.0	B	0.04013	0.001	T	0.31280	-0.9949	10	0.21540	T	0.41	-22.4169	8.0334	0.30478	0.0:0.4124:0.1063:0.4813	.	310	Q9BRQ8	AIFM2_HUMAN	I	310;310;273	ENSP00000362345:V310I;ENSP00000312370:V310I	ENSP00000312370:V310I	V	-	1	0	AIFM2	71544724	0.000000	0.05858	0.727000	0.30756	0.293000	0.27360	-0.408000	0.07169	-0.406000	0.07588	0.563000	0.77884	GTC		0.572	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797	
USP54	159195	broad.mit.edu	37	10	75276916	75276916	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:75276916C>T	ENST00000339859.4	-	19	3368	c.3268G>A	c.(3268-3270)Gtg>Atg	p.V1090M	USP54_ENST00000428547.1_Missense_Mutation_p.V940M|USP54_ENST00000394811.2_Missense_Mutation_p.V178M|USP54_ENST00000408019.1_Missense_Mutation_p.V1090M|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.V272M			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1090					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.V1090M(1)|p.V178M(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTTTCTGCACAGGATCAGGA	0.478																																					p.V1090M	Colon(195;880 2046 8854 25025 38456)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3268A	10						.						99.0	100.0	100.0					10																	75276916		2203	4300	6503	74946922	SO:0001583	missense	159195	exon18			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3268G>A	10.37:g.75276916C>T	ENSP00000345216:p.Val1090Met		74946922	NM_152586	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496954	0.44352	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.27720	1.72;1.72;1.7;1.65;1.66	5.83	1.84	0.25277	.	.	.	.	.	T	0.13586	0.0329	N	0.14661	0.345	0.80722	D	1	P;B	0.37207	0.587;0.172	B;B	0.32465	0.146;0.035	T	0.09015	-1.0694	9	0.32370	T	0.25	-0.1473	5.1077	0.14793	0.3582:0.4229:0.0:0.2188	.	272;1090	E7EW90;Q70EL1	.;UBP54_HUMAN	M	1090;1090;940;178;272	ENSP00000345216:V1090M;ENSP00000386080:V1090M;ENSP00000408714:V940M;ENSP00000378290:V178M;ENSP00000407368:V272M	ENSP00000345216:V1090M	V	-	1	0	USP54	74946922	0.971000	0.33674	0.999000	0.59377	0.985000	0.73830	0.085000	0.14912	0.365000	0.24400	0.655000	0.94253	GTG		0.478	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586	
SEC24C	9632	broad.mit.edu	37	10	75520073	75520073	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:75520073T>A	ENST00000339365.2	+	6	941	c.779T>A	c.(778-780)aTg>aAg	p.M260K	SEC24C_ENST00000546025.1_Missense_Mutation_p.M118K|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.M260K|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.M118K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	260					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)|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.M260K(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGCACCCAGATGACTGGGCCC	0.592																																					p.M260K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T779A	10						.						66.0	71.0	69.0					10																	75520073		2203	4300	6503	75190079	SO:0001583	missense	9632	exon5			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.779T>A	10.37:g.75520073T>A	ENSP00000343405:p.Met260Lys		75190079	NM_198597	B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588526	0.28357	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.20881	2.04;2.04;2.04	5.59	4.45	0.53987	.	0.333095	0.38548	N	0.001657	T	0.18635	0.0447	L	0.47716	1.5	0.80722	D	1	B;B;B	0.24882	0.087;0.113;0.022	B;B;B	0.23716	0.048;0.048;0.021	T	0.03619	-1.1019	10	0.29301	T	0.29	-4.9975	10.9791	0.47483	0.0:0.0739:0.0:0.9261	.	118;260;260	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	K	118;260;260;118	ENSP00000321845:M260K;ENSP00000343405:M260K;ENSP00000402913:M118K	ENSP00000343405:M260K	M	+	2	0	SEC24C	75190079	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	2.811000	0.47986	2.254000	0.74563	0.459000	0.35465	ATG		0.592	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		
KAT6B	23522	broad.mit.edu	37	10	76790539	76790539	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:76790539T>C	ENST00000287239.4	+	18	6446	c.5957T>C	c.(5956-5958)aTg>aCg	p.M1986T	KAT6B_ENST00000372711.1_Missense_Mutation_p.M1803T|KAT6B_ENST00000372724.1_Missense_Mutation_p.M1694T|KAT6B_ENST00000372725.1_Missense_Mutation_p.M1694T|KAT6B_ENST00000372714.1_Missense_Mutation_p.M1694T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1986	Interaction with RUNX1 and RUNX2.|Met-rich.				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.M1986T(1)									AACATGAACATGAACACTCTC	0.488																																					p.M1986T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5957C	10						.						175.0	160.0	165.0					10																	76790539		2203	4300	6503	76460545	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.5957T>C	10.37:g.76790539T>C	ENSP00000287239:p.Met1986Thr		76460545	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627100	0.28978	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80123	-1.29;-1.29;-1.34;-1.29;-1.29	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000009	D	0.82609	0.5074	L	0.27053	0.805	0.53688	D	0.999978	P;P;B	0.51933	0.918;0.949;0.024	P;P;B	0.61132	0.884;0.669;0.035	D	0.85140	0.0980	10	0.87932	D	0	-10.6573	15.9322	0.79672	0.0:0.0:0.0:1.0	.	1803;1694;1986	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	T	1694;1694;1986;1694;1803	ENSP00000361810:M1694T;ENSP00000361809:M1694T;ENSP00000287239:M1986T;ENSP00000361799:M1694T;ENSP00000361796:M1803T	ENSP00000287239:M1986T	M	+	2	0	KAT6B	76460545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.375000	0.79646	2.165000	0.68154	0.460000	0.39030	ATG		0.488	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
POLR3A	11128	broad.mit.edu	37	10	79742042	79742042	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:79742042G>C	ENST00000372371.3	-	28	3766	c.3629C>G	c.(3628-3630)gCt>gGt	p.A1210G		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1210					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.A1210G(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTGGATGACAGCTCTGGACAC	0.562																																					p.A1210G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3629G	10						.						205.0	173.0	184.0					10																	79742042		2203	4300	6503	79412048	SO:0001583	missense	11128	exon28			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3629C>G	10.37:g.79742042G>C	ENSP00000361446:p.Ala1210Gly		79412048	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342492	0.95783	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.69175	-0.38	5.99	5.99	0.97316	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.78637	2.42	0.80722	D	1	D	0.56746	0.977	P	0.58873	0.847	T	0.79888	-0.1613	9	.	.	.	-17.4819	20.4488	0.99124	0.0:0.0:1.0:0.0	.	1210	O14802	RPC1_HUMAN	G	26;1210;1189	ENSP00000361446:A1210G	.	A	-	2	0	POLR3A	79412048	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.155000	0.94700	2.843000	0.97960	0.655000	0.94253	GCT		0.562	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
RGR	5995	broad.mit.edu	37	10	86007409	86007409	+	Missense_Mutation	SNP	C	C	T	rs139595177	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:86007409C>T	ENST00000359452.4	+	2	180	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	RGR_ENST00000358110.5_Missense_Mutation_p.R48W|RGR_ENST00000372092.3_Missense_Mutation_p.A31V	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	48					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.R48W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCCGGAGCTGCGGACTCCCTG	0.602																																					p.R48W	NSCLC(15;204 545 5889 6385 32445)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C142T	10						.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	137.0	131.0	133.0		142,142,142	2.2	1.0	10	dbSNP_134	133	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	101,101,101	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	48/292,48/254,48/296	86007409	4,13002	2203	4300	6503	85997389	SO:0001583	missense	5995	exon2			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.142C>T	10.37:g.86007409C>T	ENSP00000352427:p.Arg48Trp		85997389	NM_001012720	A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	CCDS7374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.242667|2.242667	0.39598|0.39598	0.0|0.0	4.65E-4|4.65E-4	ENSG00000148604|ENSG00000148604	ENST00000372092|ENST00000359452;ENST00000358110	.|T;T	.|0.45276	.|0.9;0.9	4.17|4.17	2.24|2.24	0.28232|0.28232	.|GPCR, rhodopsin-like superfamily (1);	.|0.059698	.|0.64402	.|N	.|0.000004	T|T	0.42404|0.42404	0.1201|0.1201	M|M	0.82716|0.82716	2.605|2.605	0.47737|0.47737	D|D	0.999505|0.999505	B|B;B;B	0.27498|0.30824	0.18|0.065;0.296;0.174	B|B;B;B	0.22386|0.30782	0.039|0.049;0.06;0.12	T|T	0.37361|0.37361	-0.9709|-0.9709	8|10	0.87932|0.66056	D|D	0|0.02	.|.	6.1533|6.1533	0.20324|0.20324	0.3287:0.5797:0.0:0.0915|0.3287:0.5797:0.0:0.0915	.|.	31|48;48;48	Q96HT6|P47804-3;P47804-2;P47804	.|.;.;RGR_HUMAN	V|W	31|48	.|ENSP00000352427:R48W;ENSP00000350823:R48W	ENSP00000361164:A31V|ENSP00000350823:R48W	A|R	+|+	2|1	0|2	RGR|RGR	85997389|85997389	0.494000|0.494000	0.26043|0.26043	0.988000|0.988000	0.46212|0.46212	0.989000|0.989000	0.77384|0.77384	0.168000|0.168000	0.16622|0.16622	0.450000|0.450000	0.26774|0.26774	0.467000|0.467000	0.42956|0.42956	GCG|CGG		0.602	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921	
CCSER2	54462	broad.mit.edu	37	10	86273280	86273280	+	Missense_Mutation	SNP	C	C	T	rs61747212	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:86273280C>T	ENST00000224756.8	+	11	2671	c.2486C>T	c.(2485-2487)aCg>aTg	p.T829M	CCSER2_ENST00000543283.1_Missense_Mutation_p.T256M|CCSER2_ENST00000372088.2_Missense_Mutation_p.R801C|CCSER2_ENST00000494144.1_3'UTR	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	829					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.T829M(1)									AAAGCCACAACGTATCGAGGC	0.473													C|||	40	0.00798722	0.0189	0.0	5008	,	,		17710	0.0129		0.001	False		,,,				2504	0.001				p.T829M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2486T	10						.	C	MET/THR	47,4359	50.2+/-85.5	0,47,2156	155.0	126.0	136.0		2486	6.0	0.0	10	dbSNP_129	136	8,8592	5.7+/-21.5	1,6,4293	yes	missense	FAM190B	NM_018999.2	81	1,53,6449	TT,TC,CC		0.093,1.0667,0.4229	possibly-damaging	829/835	86273280	55,12951	2203	4300	6503	86263260	SO:0001583	missense	54462	exon11				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2486C>T	10.37:g.86273280C>T	ENSP00000224756:p.Thr829Met		86263260	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	25|25	0.011446886446886446|0.011446886446886446	18|18	0.036585365853658534|0.036585365853658534	0|0	0.0|0.0	6|6	0.01048951048951049|0.01048951048951049	1|1	0.0013192612137203166|0.0013192612137203166	C|C	7.720|7.720	0.697039|0.697039	0.15106|0.15106	0.010667|0.010667	9.3E-4|9.3E-4	ENSG00000107771|ENSG00000107771	ENST00000372088|ENST00000224756;ENST00000543283	T|T;T	0.19938|0.24151	2.11|2.19;1.87	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.558438	.|0.18458	.|N	.|0.140605	T|T	0.10121|0.10121	0.0248|0.0248	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	P|D	0.47350|0.64830	0.894|0.994	B|P	0.39840|0.49752	0.311|0.621	T|T	0.02015|0.02015	-1.1229|-1.1229	9|10	0.87932|0.72032	D|D	0|0.01	-0.9925|-0.9925	18.0691|18.0691	0.89400|0.89400	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs61747212|rs61747212	801|829	Q9H7U1-3|Q9H7U1	.|F190B_HUMAN	C|M	801|829;256	ENSP00000361160:R801C|ENSP00000224756:T829M;ENSP00000439944:T256M	ENSP00000361160:R801C|ENSP00000224756:T829M	R|T	+|+	1|2	0|0	FAM190B|FAM190B	86263260|86263260	0.030000|0.030000	0.19436|0.19436	0.008000|0.008000	0.14137|0.14137	0.113000|0.113000	0.19764|0.19764	2.742000|2.742000	0.47434|0.47434	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	CGT|ACG		0.473	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
LIPK	643414	broad.mit.edu	37	10	90484307	90484307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:90484307C>T	ENST00000404190.1	+	1	7	c.7C>T	c.(7-9)Cag>Tag	p.Q3*		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	3					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.Q3*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CCAAATGTGGCAGCTTTTAGC	0.348																																					p.Q3X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7T	10						.						45.0	42.0	43.0					10																	90484307		1839	4093	5932	90474287	SO:0001587	stop_gained	643414	exon1				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.7C>T	10.37:g.90484307C>T	ENSP00000383900:p.Gln3*		90474287	NM_001080518	A7KIH8	Nonsense_Mutation	SNP	ENST00000404190.1	37	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300410	0.95601	.	.	ENSG00000204021	ENST00000404190	.	.	.	5.01	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	0.5183	6.0341	0.19697	0.0:0.6818:0.0:0.3182	.	.	.	.	X	3	.	ENSP00000383900:Q3X	Q	+	1	0	LIPK	90474287	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	0.786000	0.26844	0.806000	0.34183	0.655000	0.94253	CAG		0.348	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222	
CEP55	55165	broad.mit.edu	37	10	95276744	95276744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:95276744delA	ENST00000371485.3	+	6	1036	c.732delA	c.(730-732)gcafs	p.A244fs		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	244					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.D247fs*9(1)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TGGCAAGTGCAAAAAAAGATC	0.338																																					p.A244fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.732delA	10						.						68.0	68.0	68.0					10																	95276744		2203	4300	6503	95266734	SO:0001589	frameshift_variant	55165	exon6			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.732delA	10.37:g.95276744delA	ENSP00000360540:p.Ala244fs		95266734	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Frame_Shift_Del	DEL	ENST00000371485.3	37	CCDS7428.1																																																																																				0.338	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131	
ZNF518A	9849	broad.mit.edu	37	10	97916615	97916615	+	RNA	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:97916615G>A	ENST00000534948.1	+	0	1393							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTAGTAAAATGTGACATTTGT	0.328																																					p.C179Y												.	.	0			c.G536A	10						.						164.0	164.0	164.0					10																	97916615		1876	4094	5970	97906605			9849	exon6			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916615G>A			97906605	NM_014803	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.328	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
SLIT1	6585	broad.mit.edu	37	10	98799862	98799862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:98799862delC	ENST00000266058.4	-	21	2425	c.2180delG	c.(2179-2181)ggcfs	p.G727fs	SLIT1_ENST00000371070.4_Frame_Shift_Del_p.G727fs|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	727	LRRNT 4.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G727fs*65(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGCAGGCAGCCCCCCTCCTC	0.697																																					p.G727fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2180delG	10						.						25.0	25.0	25.0					10																	98799862		2202	4300	6502	98789852	SO:0001589	frameshift_variant	6585	exon21			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2180delG	10.37:g.98799862delC	ENSP00000266058:p.Gly727fs		98789852	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Frame_Shift_Del	DEL	ENST00000266058.4	37	CCDS7453.1																																																																																				0.697	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
RRP12	23223	broad.mit.edu	37	10	99131878	99131878	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:99131878G>A	ENST00000370992.4	-	20	2406	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.D704D|RRP12_ENST00000536831.1_Silent_p.D483D|RRP12_ENST00000315563.6_Silent_p.D665D	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	765						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D765D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGCAGCTTCGTCAGCACACG	0.642																																					p.D765D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2295T	10						.						90.0	72.0	78.0					10																	99131878		2203	4300	6503	99121868	SO:0001819	synonymous_variant	23223	exon20				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2295C>T	10.37:g.99131878G>A			99121868	NM_015179	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	De_novo_Start_InFrame	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																				0.642	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
PI4K2A	55361	broad.mit.edu	37	10	99410880	99410880	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:99410880C>G	ENST00000370631.3	+	2	675	c.618C>G	c.(616-618)aaC>aaG	p.N206K	PI4K2A_ENST00000555577.1_Missense_Mutation_p.N176K|PI4K2A_ENST00000370649.3_Missense_Mutation_p.N176K	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	206	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)	p.N206K(1)|p.N176K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TGGAACTCAACATTGTTCCCC	0.552																																					p.N206K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C618G	10						.						72.0	60.0	64.0					10																	99410880		2203	4300	6503	99400870	SO:0001583	missense	55361	exon2			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.618C>G	10.37:g.99410880C>G	ENSP00000359665:p.Asn206Lys		99400870	NM_018425	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577677	0.45902	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.75154	-0.91;-0.91;-0.91	4.94	3.96	0.45880	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.044605	0.85682	D	0.000000	T	0.80592	0.4652	M	0.73598	2.24	0.58432	D	0.999999	P;B	0.42620	0.785;0.443	P;B	0.53988	0.739;0.42	T	0.80369	-0.1411	10	0.48119	T	0.1	-19.2581	10.1839	0.42986	0.0:0.8371:0.0:0.1629	.	176;206	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	K	176;206;176	ENSP00000452243:N176K;ENSP00000359665:N206K;ENSP00000359683:N176K	ENSP00000359665:N206K	N	+	3	2	PI4K2A;RP11-548K23.11	99400870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.589000	0.36644	2.573000	0.86826	0.555000	0.69702	AAC		0.552	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425	
R3HCC1L	27291	broad.mit.edu	37	10	99968340	99968340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:99968340G>T	ENST00000298999.3	+	5	772	c.469G>T	c.(469-471)Gga>Tga	p.G157*	R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.G157*|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	157							nucleotide binding (GO:0000166)	p.G157*(1)									GGATGTGACAGGACATGAGAG	0.438																																					p.G157X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G469T	10						.						87.0	91.0	90.0					10																	99968340		2203	4300	6503	99958330	SO:0001587	stop_gained	27291	exon4			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.469G>T	10.37:g.99968340G>T	ENSP00000298999:p.Gly157*		99958330	NM_014472	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Nonsense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113839	0.56398	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	.	.	.	5.61	3.77	0.43336	.	0.835654	0.10646	N	0.650438	.	.	.	.	.	.	0.23550	N	0.99744	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.9194	8.8139	0.34985	0.1732:0.0:0.8268:0.0	.	.	.	.	X	157	.	.	G	+	1	0	C10orf28	99958330	0.044000	0.20184	0.003000	0.11579	0.007000	0.05969	2.817000	0.48034	0.848000	0.35191	-0.150000	0.13652	GGA		0.438	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	
PTPRE	5791	broad.mit.edu	37	10	129845934	129845934	+	Intron	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr10:129845934T>C	ENST00000254667.3	+	5	488				PTPRE_ENST00000306042.5_Missense_Mutation_p.S8P|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000471218.1_Intron|PTPRE_ENST00000419012.2_Intron	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E						negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S8P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GAGTAGCTTTTCCCGGCTCAC	0.607																																					p.S8P	Colon(52;977 1184 20575 41685)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T22C	10						.						88.0	88.0	88.0					10																	129845934		2203	4300	6503	129735924	SO:0001627	intron_variant	5791	exon1			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.210-94T>C	10.37:g.129845934T>C			129735924	NM_130435	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534181	0.27475	.	.	ENSG00000132334	ENST00000306042	T	0.03301	3.98	5.05	3.84	0.44239	.	.	.	.	.	T	0.02848	0.0085	N	0.19112	0.55	0.80722	D	1	P	0.40476	0.718	B	0.37888	0.26	T	0.62435	-0.6855	9	0.29301	T	0.29	.	10.2516	0.43372	0.1469:0.0:0.0:0.8531	.	8	P23469-2	.	P	8	ENSP00000303350:S8P	ENSP00000303350:S8P	S	+	1	0	PTPRE	129735924	0.460000	0.25776	1.000000	0.80357	0.103000	0.19146	1.051000	0.30417	2.039000	0.60335	0.529000	0.55759	TCC		0.607	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		
ELP4	26610	broad.mit.edu	37	11	31703413	31703414	+	Intron	INS	-	-	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:31703413_31703414insA	ENST00000350638.5	+	9	1178				ELP4_ENST00000379163.5_Intron|ELP4_ENST00000395934.2_Frame_Shift_Ins_p.L408fs|Z83001.1_ENST00000429821.1_RNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.L408fs*39(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ctcagcctccctagtagctggg	0.564																																					.												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	.	11						.																																			31659990	SO:0001627	intron_variant	26610	.			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1143+31644->A	11.37:g.31703413_31703414insA			31659989	.	B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Frame_Shift_Ins	INS	ENST00000350638.5	37	CCDS7875.2																																																																																				0.564	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040	
ALKBH8	91801	broad.mit.edu	37	11	107423860	107423860	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:107423860A>G	ENST00000428149.2	-	5	720	c.569T>C	c.(568-570)gTa>gCa	p.V190A	ALKBH8_ENST00000417449.2_Missense_Mutation_p.V193A|ALKBH8_ENST00000429370.1_Missense_Mutation_p.V190A|ALKBH8_ENST00000389568.3_Missense_Mutation_p.V190A|ALKBH8_ENST00000530933.1_5'Flank	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	190					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.V190A(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		ATCTTTATCTACATTGTTGTT	0.308																																					p.V190A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T569C	11						.						139.0	128.0	132.0					11																	107423860		2200	4294	6494	106929070	SO:0001583	missense	91801	exon5			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.569T>C	11.37:g.107423860A>G	ENSP00000415885:p.Val190Ala		106929070	NM_138775	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563252	0.86335	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.52	5.52	0.82312	.	0.062750	0.64402	D	0.000007	T	0.52500	0.1738	M	0.63169	1.94	0.58432	D	0.999998	D	0.76494	0.999	D	0.77004	0.989	T	0.52102	-0.8620	10	0.49607	T	0.09	-25.9757	14.8123	0.70006	1.0:0.0:0.0:0.0	.	190	Q96BT7	ALKB8_HUMAN	A	190;190;190;193	ENSP00000415885:V190A;ENSP00000391225:V190A;ENSP00000374219:V190A;ENSP00000397673:V193A	ENSP00000260318:V190A	V	-	2	0	ALKBH8	106929070	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.572000	0.90756	2.095000	0.63458	0.482000	0.46254	GTA		0.308	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775	
ATM	472	broad.mit.edu	37	11	108139257	108139257	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:108139257C>T	ENST00000452508.2	+	19	2948	c.2759C>T	c.(2758-2760)gCa>gTa	p.A920V	ATM_ENST00000278616.4_Missense_Mutation_p.A920V|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	920					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.A920V(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)	TCCTTTAGGGCAGCTGATATT	0.393			"""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.A920V		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2759T	11						.						209.0	193.0	199.0					11																	108139257		2201	4298	6499	107644467	SO:0001583	missense	472	exon18	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.2759C>T	11.37:g.108139257C>T	ENSP00000388058:p.Ala920Val		107644467	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478467	0.44044	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72051	-0.62;-0.62;-0.62	5.96	3.01	0.34805	Armadillo-type fold (1);	0.101226	0.64402	D	0.000002	T	0.60637	0.2284	L	0.60455	1.87	0.21553	N	0.999649	B	0.12013	0.005	B	0.12156	0.007	T	0.51826	-0.8656	10	0.39692	T	0.17	.	4.72	0.12913	0.1274:0.6158:0.1304:0.1263	.	920	Q13315	ATM_HUMAN	V	920	ENSP00000435747:A920V;ENSP00000278616:A920V;ENSP00000388058:A920V	ENSP00000278616:A920V	A	+	2	0	ATM	107644467	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	1.839000	0.39220	0.812000	0.34326	-0.181000	0.13052	GCA		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
C11orf87	399947	broad.mit.edu	37	11	109294646	109294646	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:109294646G>T	ENST00000327419.6	+	2	690	c.287G>T	c.(286-288)aGg>aTg	p.R96M	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	96						integral component of membrane (GO:0016021)		p.R96M(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AAGATGCAGAGGGCTCAGGAG	0.612																																					p.R96M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287T	11						.						141.0	130.0	134.0					11																	109294646		2201	4298	6499	108799856	SO:0001583	missense	399947	exon2			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.287G>T	11.37:g.109294646G>T	ENSP00000331581:p.Arg96Met		108799856	NM_207645	B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130618	0.56828	.	.	ENSG00000185742	ENST00000327419	.	.	.	4.92	4.92	0.64577	.	0.097794	0.36034	U	0.002830	T	0.49762	0.1576	N	0.24115	0.695	0.33386	D	0.575477	D	0.76494	0.999	D	0.68483	0.958	T	0.61520	-0.7046	9	0.87932	D	0	-10.8866	8.2622	0.31793	0.1719:0.0:0.8281:0.0	.	96	Q6NUJ2	CK087_HUMAN	M	96	.	ENSP00000331581:R96M	R	+	2	0	C11orf87	108799856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.610000	0.46325	2.659000	0.90383	0.655000	0.94253	AGG		0.612	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645	
RDX	5962	broad.mit.edu	37	11	110118470	110118470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:110118470G>A	ENST00000343115.4	-	10	1367	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	RDX_ENST00000405097.1_Missense_Mutation_p.R350C|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Missense_Mutation_p.R3C|RDX_ENST00000544551.1_Missense_Mutation_p.R214C|RDX_ENST00000528498.1_Missense_Mutation_p.R350C	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	350	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|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)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.R350C(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGTTTTAGACGTTCCATTAGC	0.308																																					p.R350C	Esophageal Squamous(55;25 1062 11040 28755 44273)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048T	11						.						142.0	128.0	132.0					11																	110118470		2199	4295	6494	109623680	SO:0001583	missense	5962	exon10			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1048C>T	11.37:g.110118470G>A	ENSP00000342830:p.Arg350Cys		109623680	NM_002906	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805400	0.70682	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.23	5.23	0.72850	Ezrin/radixin/moesin, C-terminal (1);	0.295856	0.30185	N	0.010207	D	0.91938	0.7447	M	0.79258	2.445	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.997	P;D;P	0.63381	0.863;0.914;0.903	D	0.92904	0.6342	10	0.87932	D	0	.	18.8346	0.92157	0.0:0.0:1.0:0.0	.	214;350;350	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	C	350;350;3;350;214	ENSP00000432112:R350C;ENSP00000384136:R350C;ENSP00000433580:R3C;ENSP00000342830:R350C;ENSP00000445826:R214C	ENSP00000342830:R350C	R	-	1	0	RDX	109623680	1.000000	0.71417	0.980000	0.43619	0.743000	0.42351	5.124000	0.64709	2.423000	0.82170	0.650000	0.86243	CGT		0.308	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906	
DLAT	1737	broad.mit.edu	37	11	111916596	111916596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:111916596C>T	ENST00000280346.6	+	10	1959	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	DLAT_ENST00000393051.1_Nonsense_Mutation_p.Q329*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.Q205*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	434	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.Q434*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GGTTATTGCACAGCGATTAAT	0.343																																					p.Q434X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1300T	11						.						83.0	75.0	78.0					11																	111916596		2201	4295	6496	111421806	SO:0001587	stop_gained	1737	exon10			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1300C>T	11.37:g.111916596C>T	ENSP00000280346:p.Gln434*		111421806	NM_001931	Q16783|Q53EP3	Nonsense_Mutation	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	37	6.586432	0.97684	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2129	20.0203	0.97492	0.0:1.0:0.0:0.0	.	.	.	.	X	434;329;266;205	.	ENSP00000280346:Q434X	Q	+	1	0	DLAT	111421806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.281000	0.78621	2.730000	0.93505	0.655000	0.94253	CAG		0.343	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	
NCAM1	4684	broad.mit.edu	37	11	113105855	113105855	+	Silent	SNP	C	C	T	rs199567425		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:113105855C>T	ENST00000533760.1	+	13	2009	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	NCAM1_ENST00000316851.7_Silent_p.S588S|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.S597S	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	598	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S588S(2)|p.S597S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGAGATCAGCGCGGCCTCCG	0.632																																					p.R589C												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C1765T	11						.	C	,,,,	1,4051		0,1,2025	29.0	33.0	32.0		1765,1765,1873,1765,1795	2.5	0.7	11		32	4,8306		0,4,4151	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCAM1	NM_000615.6,NM_001076682.3,NM_001242607.1,NM_001242608.1,NM_181351.4	,,,,	0,5,6176	TT,TC,CC		0.0481,0.0247,0.0404	,,,,	588/849,588/762,624/885,588/727,598/859	113105855	5,12357	2026	4155	6181	112611065	SO:0001819	synonymous_variant	4684	exon13				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1410C>T	11.37:g.113105855C>T			112611065	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37																																																																																					0.632	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
USP28	57646	broad.mit.edu	37	11	113683045	113683045	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:113683045G>A	ENST00000003302.4	-	16	1993	c.1925C>T	c.(1924-1926)gCt>gTt	p.A642V	USP28_ENST00000545540.1_Missense_Mutation_p.A517V|USP28_ENST00000260188.5_Missense_Mutation_p.A642V|USP28_ENST00000544967.1_Missense_Mutation_p.A350V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	642	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A642V(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAGACAGTAAGCACTAACATT	0.423																																					p.A642V	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1925T	11						.						123.0	118.0	119.0					11																	113683045		2201	4296	6497	113188255	SO:0001583	missense	57646	exon16			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1925C>T	11.37:g.113683045G>A	ENSP00000003302:p.Ala642Val		113188255	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775508	0.90195	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.0	4.08	0.47627	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	M	0.91354	3.2	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	T	0.81844	-0.0746	10	0.87932	D	0	-17.1292	14.9576	0.71127	0.0:0.0:0.8563:0.1437	.	517;642;350	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	V	642;642;350;517;346	ENSP00000003302:A642V;ENSP00000260188:A642V;ENSP00000442431:A350V;ENSP00000444991:A517V;ENSP00000442257:A346V	ENSP00000003302:A642V	A	-	2	0	USP28	113188255	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.198000	0.94994	1.312000	0.45043	0.655000	0.94253	GCT		0.423	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
SIK3	23387	broad.mit.edu	37	11	116824787	116824787	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:116824787C>T	ENST00000292055.4	-	3	288	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SIK3_ENST00000542607.1_Missense_Mutation_p.E85K|SIK3_ENST00000446921.2_Missense_Mutation_p.E143K|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.E143K	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E143K(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTAGCATATTCTGTCACCAGA	0.403																																					p.E85K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	11						.						159.0	131.0	140.0					11																	116824787		2201	4296	6497	116329997	SO:0001583	missense	23387	exon3			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.253G>A	11.37:g.116824787C>T	ENSP00000292055:p.Glu85Lys		116329997	NM_025164	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.775627|5.775627	0.96922|0.96922	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607|ENST00000445177;ENST00000446921;ENST00000413553	T;T;T|.	0.52754|.	0.65;0.65;0.65|.	5.66|5.66	5.66|5.66	0.87406|0.87406	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|.	0.42172|.	U|.	0.000748|.	D|D	0.90549|0.90549	0.7038|0.7038	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.985;1.0|.	D;D|.	0.91635|.	0.914;0.999|.	D|D	0.93379|0.93379	0.6742|0.6742	10|5	0.87932|.	D|.	0|.	.|.	19.7538|19.7538	0.96281|0.96281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;85|.	A1A5A8;Q9Y2K2|.	.;SIK3_HUMAN|.	K|K	143;85;85|136;107;45	ENSP00000364449:E143K;ENSP00000292055:E85K;ENSP00000438108:E85K|.	ENSP00000292055:E85K|.	E|R	-|-	1|2	0|0	SIK3|SIK3	116329997|116329997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.403	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	
CEP164	22897	broad.mit.edu	37	11	117246503	117246503	+	Missense_Mutation	SNP	G	G	A	rs137987733		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:117246503G>A	ENST00000278935.3	+	11	1460	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	438					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.R438Q(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)		GGAGCTTGTCGGCAGGTGAGT	0.577																																					p.R438Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1313A	11						.	G	GLN/ARG	0,4402		0,0,2201	167.0	143.0	151.0		1313	3.1	0.6	11	dbSNP_134	151	3,8589	3.0+/-9.4	0,3,4293	no	missense	CEP164	NM_014956.4	43	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	438/1461	117246503	3,12991	2201	4296	6497	116751713	SO:0001583	missense	22897	exon11			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.1313G>A	11.37:g.117246503G>A	ENSP00000278935:p.Arg438Gln		116751713	NM_014956	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	6.299	0.423323	0.11928	0.0	3.49E-4	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.57436	0.4	4.98	3.11	0.35812	.	1.109740	0.06808	N	0.789960	T	0.28632	0.0709	N	0.08118	0	0.21967	N	0.999442	P;P;P	0.44478	0.836;0.776;0.697	B;B;B	0.34722	0.096;0.055;0.188	T	0.07809	-1.0753	10	0.22706	T	0.39	0.1235	8.3366	0.32219	0.1845:0.0:0.8155:0.0	.	412;438;438	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	Q	438;412;365	ENSP00000278935:R438Q	ENSP00000278935:R438Q	R	+	2	0	CEP164	116751713	0.946000	0.32159	0.555000	0.28281	0.003000	0.03518	1.417000	0.34770	0.619000	0.30197	-0.126000	0.14955	CGG		0.577	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
AMICA1	120425	broad.mit.edu	37	11	118074340	118074340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:118074340G>A	ENST00000356289.5	-	6	748	c.575C>T	c.(574-576)tCt>tTt	p.S192F	AMICA1_ENST00000533261.1_Missense_Mutation_p.S181F|AMICA1_ENST00000526620.1_Missense_Mutation_p.S153F|AMICA1_ENST00000292067.7_Missense_Mutation_p.S182F	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	192	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.S182F(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTACTCCACAGACATCCTGAG	0.498																																					p.S182F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C545T	11						.						100.0	99.0	99.0					11																	118074340		2200	4296	6496	117579550	SO:0001583	missense	120425	exon5			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.575C>T	11.37:g.118074340G>A	ENSP00000348635:p.Ser192Phe		117579550	NM_153206	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293312	0.40594	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	T;T;D;T	0.94650	-0.28;-0.28;-3.48;-0.28	4.58	2.64	0.31445	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195452	0.25497	N	0.030280	D	0.87826	0.6275	N	0.14661	0.345	0.09310	N	1	D;D;D;D;D	0.58268	0.966;0.982;0.966;0.966;0.977	P;P;P;P;B	0.45037	0.467;0.467;0.467;0.467;0.336	T	0.81136	-0.1070	10	0.51188	T	0.08	-0.7235	7.6294	0.28230	0.0:0.1807:0.6323:0.1871	.	192;153;192;181;182	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	F	192;182;181;153;153	ENSP00000348635:S192F;ENSP00000292067:S182F;ENSP00000436117:S181F;ENSP00000431218:S153F	ENSP00000292067:S182F	S	-	2	0	AMICA1	117579550	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.966000	0.29331	0.425000	0.26087	0.491000	0.48974	TCT		0.498	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	
TRAPPC4	51399	broad.mit.edu	37	11	118895727	118895727	+	IGR	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:118895727T>A	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000538950.1_Missense_Mutation_p.T322S|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.C248S|SLC37A4_ENST00000545985.1_Missense_Mutation_p.T395S|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.T416S|SLC37A4_ENST00000357590.5_Missense_Mutation_p.T417S	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGAAGGCTGTGCTCCAACTG	0.587																																					p.H417L												.	.	0			c.A1250T	11						.						57.0	61.0	59.0					11																	118895727		2011	4182	6193	118400937	SO:0001628	intergenic_variant	2542	exon11			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895727T>A			118400937	NM_001164278	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805852	0.50421	.	.	ENSG00000196655	ENST00000533058	T	0.48201	0.82	5.27	5.27	0.74061	.	.	.	.	.	T	0.63189	0.2490	M	0.70595	2.14	0.35061	D	0.761608	.	.	.	.	.	.	T	0.75684	-0.3232	7	0.87932	D	0	-7.8461	15.3661	0.74523	0.0:0.0:0.0:1.0	.	.	.	.	S	248	ENSP00000432920:C248S	ENSP00000432920:C248S	C	+	1	0	TRAPPC4	118400937	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.309000	0.78937	2.226000	0.72624	0.459000	0.35465	TGC		0.587	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146	
MUC5B	727897	broad.mit.edu	37	11	1256559	1256559	+	Silent	SNP	C	C	T	rs369528609		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:1256559C>T	ENST00000529681.1	+	23	2854	c.2796C>T	c.(2794-2796)caC>caT	p.H932H	MUC5B_ENST00000447027.1_Silent_p.H935H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	932	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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.H935H(2)		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)		ACACCACCCACGGGACCTTCC	0.667																																					p.H932H												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C2796T	11						.	C		2,4212		0,2,2105	59.0	68.0	65.0		2796	-8.7	0.0	11		65	0,8426		0,0,4213	no	coding-synonymous	MUC5B	NM_002458.2		0,2,6318	TT,TC,CC		0.0,0.0475,0.0158		932/5763	1256559	2,12638	2107	4213	6320	1213135	SO:0001819	synonymous_variant	727897	exon23			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.2796C>T	11.37:g.1256559C>T			1213135	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
DPAGT1	1798	broad.mit.edu	37	11	118968599	118968599	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:118968599G>A	ENST00000409993.2	-	8	2434	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	DPAGT1_ENST00000432443.2_Missense_Mutation_p.H188Y|DPAGT1_ENST00000354202.4_Missense_Mutation_p.H295Y|DPAGT1_ENST00000445653.1_5'Flank|H2AFX_ENST00000530167.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	295					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.H295Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGGATGATATGCAGGAGCTGA	0.517																																					p.H295Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C883T	11						.						160.0	156.0	157.0					11																	118968599		2200	4295	6495	118473809	SO:0001583	missense	1798	exon6			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.883C>T	11.37:g.118968599G>A	ENSP00000386597:p.His295Tyr		118473809	NM_001382	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798384	0.70567	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91792	-2.91;-2.91;-2.8	5.9	5.9	0.94986	.	0.096474	0.64402	D	0.000001	D	0.93536	0.7937	M	0.87269	2.87	0.80722	D	1	P;B	0.41159	0.74;0.129	B;B	0.39590	0.304;0.281	D	0.93783	0.7085	10	0.54805	T	0.06	-18.5799	19.2671	0.93993	0.0:0.0:1.0:0.0	.	188;295	E7EW40;Q9H3H5	.;GPT_HUMAN	Y	295;295;188	ENSP00000386597:H295Y;ENSP00000346142:H295Y;ENSP00000404036:H188Y	ENSP00000346142:H295Y	H	-	1	0	DPAGT1	118473809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.904000	0.87408	2.788000	0.95919	0.650000	0.86243	CAT		0.517	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
OR10S1	219873	broad.mit.edu	37	11	123847714	123847714	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:123847714C>T	ENST00000531945.1	-	1	774	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V229I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		TAGGAAATAACGATGAGGATG	0.592																																					p.V229I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G685A	11						.						53.0	48.0	50.0					11																	123847714		2202	4299	6501	123352924	SO:0001583	missense	219873	exon1			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.685G>A	11.37:g.123847714C>T	ENSP00000431914:p.Val229Ile		123352924	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.771154	0.02974	.	.	ENSG00000196248	ENST00000531945	T	0.00256	8.42	4.85	-9.7	0.00521	GPCR, rhodopsin-like superfamily (1);	1.014880	0.07935	N	0.978190	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.35671	T	0.21	-8.6411	10.3645	0.44015	0.0677:0.1727:0.0824:0.6771	.	229	Q8NGN2	O10S1_HUMAN	I	229	ENSP00000431914:V229I	ENSP00000431914:V229I	V	-	1	0	OR10S1	123352924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.012000	0.00160	-3.372000	0.00177	-2.983000	0.00079	GTT		0.592	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
OR10G4	390264	broad.mit.edu	37	11	123886819	123886819	+	Missense_Mutation	SNP	G	G	A	rs150347384	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:123886819G>A	ENST00000320891.4	+	1	538	c.538G>A	c.(538-540)Gca>Aca	p.A180T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A180T(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)		CTTCTGTGACGCACCGCCCAT	0.537													g|||	7	0.00139776	0.0	0.0029	5008	,	,		22318	0.0		0.005	False		,,,				2504	0.0				p.A180T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	11						.	G	THR/ALA	6,4396	11.4+/-27.6	1,4,2196	197.0	166.0	176.0		538	2.4	0.1	11	dbSNP_134	176	55,8539	35.3+/-89.8	1,53,4243	no	missense	OR10G4	NM_001004462.1	58	2,57,6439	AA,AG,GG		0.64,0.1363,0.4694	benign	180/312	123886819	61,12935	2201	4297	6498	123392029	SO:0001583	missense	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.538G>A	11.37:g.123886819G>A	ENSP00000325076:p.Ala180Thr		123392029	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	13	0.005952380952380952	0	0.0	1	0.0027624309392265192	5	0.008741258741258742	7	0.009234828496042216	g	3.342	-0.134369	0.06711	0.001363	0.0064	ENSG00000254737	ENST00000320891	T	0.36878	1.23	3.33	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.477981	0.17567	N	0.169581	T	0.11623	0.0283	N	0.10685	0.025	0.09310	N	1	B	0.21753	0.06	B	0.26770	0.073	T	0.12760	-1.0535	10	0.54805	T	0.06	.	2.0741	0.03620	0.1042:0.1717:0.3717:0.3524	.	180	Q8NGN3	O10G4_HUMAN	T	180	ENSP00000325076:A180T	ENSP00000325076:A180T	A	+	1	0	OR10G4	123392029	0.000000	0.05858	0.072000	0.20136	0.003000	0.03518	0.042000	0.13949	0.714000	0.32081	-0.311000	0.09066	GCA		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
ROBO4	54538	broad.mit.edu	37	11	124763599	124763599	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:124763599G>A	ENST00000306534.3	-	10	2017	c.1532C>T	c.(1531-1533)gCc>gTc	p.A511V	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.A366V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	511					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A511V(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TTTTAGGATGGCATCCTCACT	0.522																																					p.A511V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1532T	11						.						193.0	159.0	170.0					11																	124763599		2201	4299	6500	124268809	SO:0001583	missense	54538	exon10			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1532C>T	11.37:g.124763599G>A	ENSP00000304945:p.Ala511Val		124268809	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466773	0.63625	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64085	-0.08;0.29	4.93	4.93	0.64822	.	0.000000	0.38959	N	0.001520	T	0.74764	0.3759	M	0.63428	1.95	0.34794	D	0.736022	D;D;D	0.71674	0.998;0.996;0.985	D;D;P	0.71184	0.972;0.914;0.787	T	0.81714	-0.0807	10	0.56958	D	0.05	.	13.5274	0.61603	0.0:0.0:1.0:0.0	.	511;401;511	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	V	511;401;366	ENSP00000304945:A511V;ENSP00000437129:A366V	ENSP00000304945:A511V	A	-	2	0	ROBO4	124268809	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	3.669000	0.54561	2.561000	0.86390	0.655000	0.94253	GCC		0.522	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
FEZ1	9638	broad.mit.edu	37	11	125351476	125351476	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:125351476C>A	ENST00000278919.3	-	3	599	c.365G>T	c.(364-366)aGg>aTg	p.R122M	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	122					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.R122M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GTTTGGATCCCTCCAGTCTTC	0.512																																					p.R122M	Melanoma(180;509 2033 10762 15939 24711)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365T	11						.						168.0	168.0	168.0					11																	125351476		2201	4299	6500	124856686	SO:0001583	missense	9638	exon3			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.365G>T	11.37:g.125351476C>A	ENSP00000278919:p.Arg122Met		124856686	NM_005103	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008877	0.35415	.	.	ENSG00000149557	ENST00000278919	T	0.31769	1.48	5.89	4.97	0.65823	.	0.240731	0.51477	D	0.000085	T	0.22166	0.0534	N	0.16478	0.41	0.80722	D	1	B;B	0.31256	0.316;0.026	B;B	0.32342	0.144;0.016	T	0.05435	-1.0885	10	0.49607	T	0.09	-5.1645	14.6595	0.68858	0.2641:0.7359:0.0:0.0	.	122;122	B4DKG5;Q99689	.;FEZ1_HUMAN	M	122	ENSP00000278919:R122M	ENSP00000278919:R122M	R	-	2	0	FEZ1	124856686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.249000	0.51437	1.466000	0.48025	0.655000	0.94253	AGG		0.512	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103	
FLI1	2313	broad.mit.edu	37	11	128675298	128675298	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:128675298C>T	ENST00000527786.2	+	6	1182	c.693C>T	c.(691-693)ggC>ggT	p.G231G	FLI1_ENST00000534087.2_Silent_p.G198G|FLI1_ENST00000344954.6_Silent_p.G198G|FLI1_ENST00000525560.1_Silent_p.G38G|FLI1_ENST00000281428.8_Silent_p.G165G	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	231					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|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)|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 (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G231G(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GAGCTTGGGGCAATAACATGA	0.403			T	EWSR1	Ewing sarcoma																																p.G198G			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594T	11						.						82.0	80.0	80.0					11																	128675298		1857	4089	5946	128180508	SO:0001819	synonymous_variant	2313	exon6			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.693C>T	11.37:g.128675298C>T			128180508	NM_001167681	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																				0.403	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017	
KCNJ5	3762	broad.mit.edu	37	11	128781427	128781427	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:128781427C>T	ENST00000338350.4	+	3	611	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	KCNJ5_ENST00000529694.1_Missense_Mutation_p.R87C|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R87C			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	87					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.R87C(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCTCAAGTGGCGCTTCAACTT	0.552																																					p.R87C	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C259T	11						.						151.0	127.0	135.0					11																	128781427		2201	4297	6498	128286637	SO:0001583	missense	3762	exon2			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.259C>T	11.37:g.128781427C>T	ENSP00000339960:p.Arg87Cys		128286637	NM_000890	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586187	0.86851	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95980	-3.87;-3.87;-3.87	5.21	5.21	0.72293	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.047201	0.85682	D	0.000000	D	0.98422	0.9475	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.99628	1.0985	10	0.87932	D	0	.	18.7604	0.91848	0.0:1.0:0.0:0.0	.	87	P48544	IRK5_HUMAN	C	87	ENSP00000433295:R87C;ENSP00000339960:R87C;ENSP00000434266:R87C	ENSP00000339960:R87C	R	+	1	0	KCNJ5	128286637	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.071000	0.71229	2.436000	0.82500	0.555000	0.69702	CGC		0.552	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890	
RIC8A	60626	broad.mit.edu	37	11	210611	210611	+	Missense_Mutation	SNP	G	G	A	rs368432680		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:210611G>A	ENST00000526104.1	+	4	2111	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	RIC8A_ENST00000325207.5_Missense_Mutation_p.R256Q|RIC8A_ENST00000527696.1_Missense_Mutation_p.R250Q			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	256					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R256Q(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACCCTTCTCCGGCACTGTGTG	0.572																																					p.R256Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G767A	11						.	G	GLN/ARG	0,4406		0,0,2203	123.0	120.0	121.0		767	4.7	1.0	11		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIC8A	NM_021932.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	256/538	210611	1,13005	2203	4300	6503	200611	SO:0001583	missense	60626	exon4			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.767G>A	11.37:g.210611G>A	ENSP00000432008:p.Arg256Gln		200611	NM_021932	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.697876|5.697876	0.96802|0.96802	0.0|0.0	1.16E-4|1.16E-4	ENSG00000177963|ENSG00000177963	ENST00000527728|ENST00000526104;ENST00000325207;ENST00000527696	.|T;T;T	.|0.48522	.|0.81;0.81;0.81	4.68|4.68	4.68|4.68	0.58851|0.58851	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67692|0.67692	0.2920|0.2920	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63046	.|0.992;0.982;0.977	.|P;P;P	.|0.56916	.|0.809;0.762;0.65	T|T	0.73145|0.73145	-0.4075|-0.4075	5|10	.|0.51188	.|T	.|0.08	-29.3707|-29.3707	17.5265|17.5265	0.87802|0.87802	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|250;256;256	.|Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.|.;RIC8A_HUMAN;.	S|Q	151|256;256;250	.|ENSP00000432008:R256Q;ENSP00000325941:R256Q;ENSP00000434833:R250Q	.|ENSP00000325941:R256Q	G|R	+|+	1|2	0|0	RIC8A|RIC8A	200611|200611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	5.927000|5.927000	0.70080|0.70080	2.538000|2.538000	0.85594|0.85594	0.644000|0.644000	0.83932|0.83932	GGC|CGG		0.572	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
CTSD	1509	broad.mit.edu	37	11	1774844	1774844	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:1774844C>T	ENST00000236671.2	-	9	1260	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	376					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)	p.P376P(1)		endometrium(1)|large_intestine(4)|lung(8)	13		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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CGCTGGGTGGCGGGATGTCCA	0.657																																					p.P376P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1128A	11						.						50.0	51.0	51.0					11																	1774844		2202	4299	6501	1731420	SO:0001819	synonymous_variant	1509	exon9			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1128G>A	11.37:g.1774844C>T			1731420	NM_001909	Q6IB57	Silent	SNP	ENST00000236671.2	37	CCDS7725.1																																																																																				0.657	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909	
STIM1	6786	broad.mit.edu	37	11	4107744	4107744	+	Silent	SNP	G	G	A	rs370596083		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:4107744G>A	ENST00000300737.4	+	11	2081	c.1512G>A	c.(1510-1512)acG>acA	p.T504T	STIM1_ENST00000533977.1_Silent_p.T331T|STIM1_ENST00000527651.1_Silent_p.T504T	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	504					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.T504T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGCGCCTGACGGAGCCACAGC	0.602																																					p.T504T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1512A	11						.	G		0,4402		0,0,2201	46.0	40.0	42.0		1512	5.3	1.0	11		42	1,8595		0,1,4297	no	coding-synonymous	STIM1	NM_003156.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		504/686	4107744	1,12997	2201	4298	6499	4064320	SO:0001819	synonymous_variant	6786	exon11			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1512G>A	11.37:g.4107744G>A			4064320	NM_003156	E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	37	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591405	0.13812	0.0	1.16E-4	ENSG00000167323	ENST00000526596	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	T	0.72236	0.3435	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70949	-0.4733	4	.	.	.	-7.4058	16.5107	0.84284	0.0:0.0:1.0:0.0	.	.	.	.	Q	266	.	.	R	+	2	0	STIM1	4064320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.030000	0.49720	2.498000	0.84270	0.407000	0.27541	CGG		0.602	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156	
OR51V1	283111	broad.mit.edu	37	11	5221143	5221143	+	Missense_Mutation	SNP	G	G	T	rs570346951		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:5221143G>T	ENST00000321255.1	-	1	787	c.788C>A	c.(787-789)cCt>cAt	p.P263H		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	263					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.P263H(2)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTAATGATAGGGATGTAGAA	0.478																																					p.P263H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C788A	11						.						139.0	121.0	127.0					11																	5221143		2201	4298	6499	5177719	SO:0001583	missense	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.788C>A	11.37:g.5221143G>T	ENSP00000321729:p.Pro263His		5177719	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102848	0.37145	.	.	ENSG00000176742	ENST00000321255	T	0.80393	-1.37	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	D	0.93145	0.7817	H	0.95917	3.74	0.35757	D	0.819893	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	10	0.87932	D	0	.	17.6131	0.88060	0.0:0.0:1.0:0.0	.	263	Q9H2C8	O51V1_HUMAN	H	263	ENSP00000321729:P263H	ENSP00000321729:P263H	P	-	2	0	OR51V1	5177719	1.000000	0.71417	0.857000	0.33713	0.050000	0.14768	4.765000	0.62271	2.742000	0.94016	0.655000	0.94253	CCT		0.478	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
OR51B5	282763	broad.mit.edu	37	11	5364182	5364182	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:5364182G>A	ENST00000300773.2	-	1	627	c.573C>T	c.(571-573)acC>acT	p.T191T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	191					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.T191T(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)		GTCGGTTGAAGGTGGTATCAG	0.428																																					p.T191T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573T	11						.						105.0	110.0	109.0					11																	5364182		2201	4297	6498	5320758	SO:0001819	synonymous_variant	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.573C>T	11.37:g.5364182G>A			5320758	NM_001005567	B2RN59	Silent	SNP	ENST00000300773.2	37	CCDS31378.1																																																																																				0.428	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567	
TRIM22	10346	broad.mit.edu	37	11	5717641	5717641	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:5717641A>G	ENST00000379965.3	+	2	456	c.179A>G	c.(178-180)cAg>cGg	p.Q60R	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	60					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q60R(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CCTGTGTGTCAGACCAGATTC	0.532																																					p.Q60R	GBM(104;491 2336 5222)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A179G	11						.						86.0	91.0	89.0					11																	5717641		2200	4297	6497	5674217	SO:0001583	missense	10346	exon2			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.179A>G	11.37:g.5717641A>G	ENSP00000369299:p.Gln60Arg		5674217	NM_001199573	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	5.290	0.238911	0.10023	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.57	-5.15	0.02866	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	.	.	.	.	T	0.52565	0.1742	N	0.00150	-1.985	0.09310	N	1	B;B;P	0.47034	0.001;0.016;0.889	B;B;P	0.49140	0.006;0.073;0.601	T	0.53816	-0.8385	9	0.02654	T	1	.	15.9811	0.80111	0.1243:0.0:0.8757:0.0	.	60;60;60	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	R	60	ENSP00000369299:Q60R;ENSP00000400417:Q60R;ENSP00000393250:Q60R;ENSP00000396849:Q60R	ENSP00000369299:Q60R	Q	+	2	0	TRIM22	5674217	0.000000	0.05858	0.000000	0.03702	0.589000	0.36550	0.874000	0.28065	-1.282000	0.02396	0.338000	0.21704	CAG		0.532	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
CCKBR	887	broad.mit.edu	37	11	6291928	6291928	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:6291928G>A	ENST00000334619.2	+	4	899	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	CCKBR_ENST00000532715.1_Missense_Mutation_p.V152M|CCKBR_ENST00000525462.1_Missense_Mutation_p.V236M	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	236					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.V236M(3)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GGTTATGGCCGTGGCCTACGG	0.567																																					p.V236M												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G706A	11						.						192.0	135.0	154.0					11																	6291928		2201	4296	6497	6248504	SO:0001583	missense	887	exon4			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.706G>A	11.37:g.6291928G>A	ENSP00000335544:p.Val236Met		6248504	NM_176875	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513324	0.64522	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.41758	0.99;0.99;0.99	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.247555	0.41294	D	0.000901	T	0.67646	0.2915	M	0.83384	2.64	0.45962	D	0.998785	D;D;D	0.89917	1.0;0.987;0.989	D;P;P	0.79108	0.992;0.742;0.832	T	0.64334	-0.6432	10	0.27785	T	0.31	.	18.5901	0.91208	0.0:0.0:1.0:0.0	.	236;170;236	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	M	236;152;236	ENSP00000335544:V236M;ENSP00000432079:V152M;ENSP00000435534:V236M	ENSP00000335544:V236M	V	+	1	0	CCKBR	6248504	0.999000	0.42202	0.956000	0.39512	0.995000	0.86356	3.206000	0.51098	2.735000	0.93741	0.655000	0.94253	GTG		0.567	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875	
DNHD1	144132	broad.mit.edu	37	11	6589899	6589899	+	Silent	SNP	G	G	A	rs145789954		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:6589899G>A	ENST00000527990.2	+	37	12666	c.12666G>A	c.(12664-12666)gtG>gtA	p.V4222V	DNHD1_ENST00000254579.6_Silent_p.V4222V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4222					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.V4222V(1)		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)		CCCCAGCTGTGCTGACTCAGC	0.547																																					p.V4222V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12666A	11						.						82.0	78.0	79.0					11																	6589899		1994	4184	6178	6546475	SO:0001819	synonymous_variant	144132	exon39			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.12666G>A	11.37:g.6589899G>A			6546475	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																				0.547	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
NLRP14	338323	broad.mit.edu	37	11	7059961	7059961	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:7059961T>C	ENST00000299481.4	+	2	490	c.144T>C	c.(142-144)aaT>aaC	p.N48N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	48	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		N -> T (in dbSNP:rs12801277). {ECO:0000269|PubMed:16931801}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.N48N(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CACCCTGGAATGAAGTGAAGA	0.438																																					p.N48N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T144C	11						.						64.0	69.0	67.0					11																	7059961		2201	4296	6497	7016537	SO:0001819	synonymous_variant	338323	exon2			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.144T>C	11.37:g.7059961T>C			7016537	NM_176822	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																				0.438	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
OLFML1	283298	broad.mit.edu	37	11	7530956	7530956	+	Missense_Mutation	SNP	G	G	A	rs370994936		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:7530956G>A	ENST00000329293.3	+	3	1140	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R249Q	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	249	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)		p.R249Q(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)		GTGGAAGATCGAATGCTGCTC	0.473																																					p.R249Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746A	11						.	G	GLN/ARG	2,4400	4.2+/-10.8	0,2,2199	51.0	50.0	50.0		746	4.8	0.8	11		50	0,8592		0,0,4296	no	missense	OLFML1	NM_198474.3	43	0,2,6495	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	249/403	7530956	2,12992	2201	4296	6497	7487532	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.746G>A	11.37:g.7530956G>A	ENSP00000332511:p.Arg249Gln		7487532	NM_198474	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708057	0.48412	4.54E-4	0.0	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88818	-2.43;-2.43	5.66	4.75	0.60458	Olfactomedin-like (3);	0.241563	0.33199	N	0.005179	T	0.77445	0.4131	N	0.24115	0.695	0.80722	D	1	P;P	0.44478	0.836;0.836	B;B	0.32805	0.153;0.153	T	0.75651	-0.3244	10	0.21540	T	0.41	.	12.5063	0.55984	0.081:0.0:0.919:0.0	.	113;249	B4DN61;Q6UWY5	.;OLFL1_HUMAN	Q	249	ENSP00000433455:R249Q;ENSP00000332511:R249Q	ENSP00000332511:R249Q	R	+	2	0	OLFML1	7487532	0.627000	0.27129	0.809000	0.32408	0.970000	0.65996	3.831000	0.55776	1.389000	0.46526	0.563000	0.77884	CGA		0.473	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474	
CYB5R2	51700	broad.mit.edu	37	11	7694036	7694036	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:7694036C>T	ENST00000533558.1	-	2	577	c.21G>A	c.(19-21)gaG>gaA	p.E7E	CYB5R2_ENST00000299498.6_Silent_p.E7E|CYB5R2_ENST00000299497.9_Silent_p.E7E|CYB5R2_ENST00000524790.1_Silent_p.E7E			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	7					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.E7E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGATTGGCTCTCTCCTCC	0.557																																					p.E7E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G21A	11						.						192.0	155.0	167.0					11																	7694036		2201	4296	6497	7650612	SO:0001819	synonymous_variant	51700	exon2			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.21G>A	11.37:g.7694036C>T			7650612	NM_016229	Q9BVA3|Q9UF68|Q9UHJ0	Silent	SNP	ENST00000533558.1	37	CCDS7780.1																																																																																				0.557	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229	
ARNTL	406	broad.mit.edu	37	11	13398252	13398252	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:13398252A>T	ENST00000403290.1	+	16	1746	c.1391A>T	c.(1390-1392)gAc>gTc	p.D464V	ARNTL_ENST00000361003.4_Missense_Mutation_p.D346V|ARNTL_ENST00000396441.3_Missense_Mutation_p.D463V|ARNTL_ENST00000403482.3_Missense_Mutation_p.D462V|ARNTL_ENST00000389707.4_Missense_Mutation_p.D463V|ARNTL_ENST00000403510.3_Missense_Mutation_p.D420V|ARNTL_ENST00000389708.3_Missense_Mutation_p.T496S|ARNTL_ENST00000401424.1_Missense_Mutation_p.D421V			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	464					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D463V(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CACAGCATGGACAGCATGCTG	0.567																																					p.D420V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1259T	11						.						127.0	119.0	122.0					11																	13398252		2200	4294	6494	13354828	SO:0001583	missense	406	exon16			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1391A>T	11.37:g.13398252A>T	ENSP00000384517:p.Asp464Val		13354828	NM_001030273	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.29|15.29	2.791031|2.791031	0.50102|0.50102	.|.	.|.	ENSG00000133794|ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482|ENST00000389708	T;T;T;T;T;T;T|T	0.34275|0.08984	1.37;1.37;1.37;1.37;1.37;1.37;1.37|3.03	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.12135|0.12135	0.0295|0.0295	L|L	0.36672|0.36672	1.1|1.1	0.25388|0.25388	N|N	0.98855|0.98855	P;B;B;B;P|.	0.41710|.	0.617;0.216;0.047;0.435;0.76|.	B;B;B;B;B|.	0.41723|.	0.124;0.05;0.017;0.136;0.365|.	T|T	0.11767|0.11767	-1.0574|-1.0574	10|7	0.59425|0.66056	D|D	0.04|0.02	.|.	11.8851|11.8851	0.52598|0.52598	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	462;421;464;463;420|.	O00327-7;O00327-1;O00327;O00327-8;A2I2N6|.	.;.;BMAL1_HUMAN;.;.|.	V|S	463;463;421;464;346;420;420;462|496	ENSP00000379718:D463V;ENSP00000374357:D463V;ENSP00000385915:D421V;ENSP00000384517:D464V;ENSP00000354278:D346V;ENSP00000385581:D420V;ENSP00000385897:D462V|ENSP00000374358:T496S	ENSP00000340289:D420V|ENSP00000374358:T496S	D|T	+|+	2|1	0|0	ARNTL|ARNTL	13354828|13354828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.191000|8.191000	0.89716|0.89716	1.816000|1.816000	0.52996|0.52996	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.567	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
CALCA	796	broad.mit.edu	37	11	14991577	14991577	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:14991577T>A	ENST00000486207.1	-	2	139	c.131A>T	c.(130-132)gAg>gTg	p.E44V	CALCA_ENST00000359642.3_Missense_Mutation_p.E44V|CALCA_ENST00000361010.3_Missense_Mutation_p.E44V|CALCA_ENST00000331587.4_Missense_Mutation_p.E44V|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.E44V			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	44					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)	p.E44V(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CGCTTCGTCCTCACTGAGCGT	0.642											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E44V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A131T	11						.						41.0	41.0	41.0					11																	14991577		2200	4294	6494	14948153	SO:0001583	missense	796	exon3			X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.131A>T	11.37:g.14991577T>A	ENSP00000417833:p.Glu44Val	699	14948153	NM_001741	Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319503	0.81469	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.83	4.83	0.62350	.	0.183710	0.56097	D	0.000032	T	0.58666	0.2138	M	0.85630	2.765	0.44104	D	0.996878	D;D	0.69078	0.997;0.986	D;D	0.68621	0.959;0.932	T	0.66771	-0.5839	10	0.87932	D	0	-24.4143	14.8748	0.70485	0.0:0.0:0.0:1.0	.	44;44	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	V	44	ENSP00000417833:E44V;ENSP00000354286:E44V;ENSP00000352663:E44V;ENSP00000331746:E44V;ENSP00000379657:E44V	ENSP00000331746:E44V	E	-	2	0	CALCA	14948153	1.000000	0.71417	0.029000	0.17559	0.072000	0.16883	6.909000	0.75735	2.182000	0.69389	0.533000	0.62120	GAG		0.642	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741	
E2F8	79733	broad.mit.edu	37	11	19253833	19253833	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:19253833G>A	ENST00000527884.1	-	7	1246	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	E2F8_ENST00000250024.4_Silent_p.G338G|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	338					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.G338G(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						CTGGTTTTCGGCCTCTTTCCT	0.383																																					p.G338G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1014T	11						.						205.0	211.0	209.0					11																	19253833		2199	4293	6492	19210409	SO:0001819	synonymous_variant	79733	exon7				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.1014C>T	11.37:g.19253833G>A			19210409	NM_024680	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	CCDS7849.1																																																																																				0.383	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680	
DBX1	120237	broad.mit.edu	37	11	20178611	20178611	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:20178611G>A	ENST00000524983.2	-	3	932	c.644C>T	c.(643-645)gCg>gTg	p.A215V	DBX1_ENST00000227256.3_Missense_Mutation_p.A215V			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	215					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A215V(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CAGCTTGGCCGCCAGCTTCTT	0.642																																					p.A215V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644T	11						.						42.0	44.0	44.0					11																	20178611		2203	4300	6503	20135187	SO:0001583	missense	120237	exon3					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.644C>T	11.37:g.20178611G>A	ENSP00000436881:p.Ala215Val		20135187	NM_001029865		Missense_Mutation	SNP	ENST00000524983.2	37		.	.	.	.	.	.	.	.	.	.	G	29.5	5.011141	0.93346	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;D	0.98362	-4.89;-4.89	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	H	0.95611	3.695	0.80722	D	1	P	0.52170	0.951	B	0.40134	0.32	D	0.99923	1.1269	10	0.87932	D	0	-26.9267	17.7102	0.88319	0.0:0.0:1.0:0.0	.	215	F8W811	.	V	215	ENSP00000436881:A215V;ENSP00000227256:A215V	ENSP00000227256:A215V	A	-	2	0	DBX1	20135187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.424000	0.97464	2.448000	0.82819	0.650000	0.86243	GCG		0.642	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865	
NELL1	4745	broad.mit.edu	37	11	21250985	21250985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:21250985G>A	ENST00000357134.5	+	14	1686	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R	NELL1_ENST00000325319.5_Missense_Mutation_p.G455R|NELL1_ENST00000532434.1_Missense_Mutation_p.G512R|NELL1_ENST00000298925.5_Missense_Mutation_p.G540R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	512	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.G512R(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CGTGGGGAACGGGACCATCTG	0.572																																					p.G512R												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G1534A	11						.						97.0	68.0	78.0					11																	21250985		2203	4300	6503	21207561	SO:0001583	missense	4745	exon14			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1534G>A	11.37:g.21250985G>A	ENSP00000349654:p.Gly512Arg		21207561	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548070	0.86022	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.99909	-7.85;-7.85;-7.85;-7.85	5.81	5.81	0.92471	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.997;1.0	D	0.96868	0.9637	10	0.46703	T	0.11	-17.0858	20.0825	0.97783	0.0:0.0:1.0:0.0	.	455;540;512;512	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	R	540;512;455;512	ENSP00000298925:G540R;ENSP00000349654:G512R;ENSP00000317837:G455R;ENSP00000437170:G512R	ENSP00000298925:G540R	G	+	1	0	NELL1	21207561	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GGG		0.572	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
WT1	7490	broad.mit.edu	37	11	32410610	32410610	+	Silent	SNP	C	C	T	rs202118284		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:32410610C>T	ENST00000379079.2	-	10	1176	c.903G>A	c.(901-903)gcG>gcA	p.A301A	WT1_ENST00000530998.1_Silent_p.A287A|WT1_ENST00000332351.3_Silent_p.A516A|WT1_ENST00000448076.3_Silent_p.A513A	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	448					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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 regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A448A(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCCCTCAAAGCGCCAGCTGGA	0.522			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		20200	0.001		0.0	False		,,,				2504	0.0				p.A301A		yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G903A	11						.						174.0	151.0	159.0					11																	32410610		2202	4299	6501	32367186	SO:0001819	synonymous_variant	7490	exon10	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.903G>A	11.37:g.32410610C>T			32367186	NM_001198551	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	CCDS55751.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.649	0.488294	0.12641	.	.	ENSG00000184937	ENST00000527882	T	0.05319	3.46	5.76	-5.59	0.02505	.	0.264865	0.30168	U	0.010254	T	0.06826	0.0174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17715	-1.0360	7	0.34782	T	0.22	.	5.8858	0.18880	0.0721:0.3259:0.115:0.487	.	.	.	.	T	177	ENSP00000435624:A177T	ENSP00000435624:A177T	A	-	1	0	WT1	32367186	0.950000	0.32346	0.393000	0.26258	0.890000	0.51754	0.024000	0.13555	-1.024000	0.03338	-1.267000	0.01435	GCT		0.522	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
WT1-AS	51352	broad.mit.edu	37	11	32460521	32460521	+	RNA	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:32460521A>G	ENST00000395900.1	+	0	1399				WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000494911.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA									p.N32D(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						TAATTATTGCAATATGAAAAA	0.547																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	11						.						54.0	54.0	54.0					11																	32460521		2202	4299	6501	32417097			51352	.			BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460521A>G			32417097	.	Q4KMY0|Q96A27	Missense_Mutation	SNP	ENST00000395900.1	37																																																																																					0.547	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920	
QSER1	79832	broad.mit.edu	37	11	32955325	32955325	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:32955325T>G	ENST00000399302.2	+	4	2469	c.2134T>G	c.(2134-2136)Tta>Gta	p.L712V	QSER1_ENST00000527788.1_Missense_Mutation_p.L473V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	712	Gln-rich.							p.L712V(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAATCATGCTTTAGGGCATGG	0.418																																					p.L712V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2134G	11						.						81.0	76.0	78.0					11																	32955325		1897	4118	6015	32911901	SO:0001583	missense	79832	exon4			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2134T>G	11.37:g.32955325T>G	ENSP00000382241:p.Leu712Val		32911901	NM_001076786	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809415	0.31961	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.23950	2.21;1.88	5.53	3.18	0.36537	.	0.139617	0.32819	N	0.005610	T	0.17238	0.0414	L	0.32530	0.975	0.27643	N	0.947662	B;B;B	0.24721	0.11;0.065;0.039	B;B;B	0.24269	0.052;0.052;0.013	T	0.16247	-1.0409	10	0.56958	D	0.05	.	5.4599	0.16612	0.3837:0.071:0.0:0.5453	.	473;473;712	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	V	712;473;473	ENSP00000382241:L712V;ENSP00000432766:L473V	ENSP00000078652:L473V	L	+	1	2	QSER1	32911901	0.585000	0.26774	0.998000	0.56505	0.945000	0.59286	0.634000	0.24614	0.383000	0.24910	0.482000	0.46254	TTA		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
KIAA1549L	25758	broad.mit.edu	37	11	33566796	33566796	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:33566796G>T	ENST00000321505.4	+	2	2546	c.2366G>T	c.(2365-2367)cGg>cTg	p.R789L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R795L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R795L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	789						integral component of membrane (GO:0016021)		p.R795L(1)									AAGGCCACCCGGTTGCCACCA	0.592																																					p.R789L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2366T	11						.						65.0	79.0	74.0					11																	33566796		2181	4282	6463	33523372	SO:0001583	missense	25758	exon2			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2366G>T	11.37:g.33566796G>T	ENSP00000315295:p.Arg789Leu		33523372	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.10|12.10	1.835940|1.835940	0.32421|0.32421	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.81|5.81	3.62|3.62	0.41486|0.41486	.|.	.|0.277026	.|0.31427	.|N	.|0.007662	T|T	0.52565|0.52565	0.1742|0.1742	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|P;D	.|0.57899	.|0.872;0.981	.|B;P	.|0.55999	.|0.145;0.789	T|T	0.46020|0.46020	-0.9221|-0.9221	5|9	.|0.54805	.|T	.|0.06	-4.8634|-4.8634	11.7981|11.7981	0.52112|0.52112	0.1603:0.0:0.8397:0.0|0.1603:0.0:0.8397:0.0	.|.	.|795;795	.|E9PAT2;Q6ZVL6-2	.|.;.	C|L	187|789;795;795;628	.|.	.|ENSP00000265654:R795L	G|R	+|+	1|2	0|0	C11orf41|C11orf41	33523372|33523372	0.998000|0.998000	0.40836|0.40836	0.081000|0.081000	0.20488|0.20488	0.610000|0.610000	0.37248|0.37248	3.445000|3.445000	0.52921|0.52921	1.467000|1.467000	0.48044|0.48044	0.561000|0.561000	0.74099|0.74099	GGT|CGG		0.592	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
HSD17B12	51144	broad.mit.edu	37	11	43702403	43702403	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:43702403G>A	ENST00000278353.4	+	1	145	c.26G>A	c.(25-27)gGc>gAc	p.G9D	HSD17B12_ENST00000395700.4_Missense_Mutation_p.G9D|HSD17B12_ENST00000529261.1_Intron	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	9					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)	p.G9D(1)		endometrium(2)|large_intestine(4)|lung(4)	10						CCCGCCGCCGGCTTCCTGTAC	0.632																																					p.G9D	Ovarian(58;548 1143 13948 16572 34258)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G26A	11						.						45.0	51.0	49.0					11																	43702403		2203	4300	6503	43658979	SO:0001583	missense	51144	exon1			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.26G>A	11.37:g.43702403G>A	ENSP00000278353:p.Gly9Asp		43658979	NM_016142	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP	ENST00000278353.4	37	CCDS7905.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342922	0.61073	.	.	ENSG00000149084	ENST00000531185;ENST00000278353;ENST00000395700	T;T;T	0.80123	-1.34;-1.09;-1.08	5.44	5.44	0.79542	.	0.455483	0.25981	N	0.027068	T	0.78451	0.4285	M	0.65975	2.015	0.35268	D	0.780179	B	0.19583	0.037	B	0.12837	0.008	T	0.77978	-0.2384	10	0.33141	T	0.24	-8.0532	14.6416	0.68729	0.0:0.0:1.0:0.0	.	9	Q53GQ0	DHB12_HUMAN	D	9	ENSP00000436582:G9D;ENSP00000278353:G9D;ENSP00000379052:G9D	ENSP00000278353:G9D	G	+	2	0	HSD17B12	43658979	0.998000	0.40836	1.000000	0.80357	0.804000	0.45430	2.771000	0.47670	2.837000	0.97791	0.655000	0.94253	GGC		0.632	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1		
CRY2	1408	broad.mit.edu	37	11	45877603	45877603	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:45877603C>T	ENST00000443527.2	+	2	371	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Missense_Mutation_p.R35W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	96	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.R96W(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GTTTGTAGTCCGGGGACAGCC	0.537																																					p.R35W	Esophageal Squamous(106;91 1499 8126 12599 39610)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C103T	11						.						117.0	122.0	121.0					11																	45877603		2203	4299	6502	45834179	SO:0001583	missense	1408	exon2			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.349C>T	11.37:g.45877603C>T	ENSP00000406751:p.Arg117Trp		45834179	NM_001127457	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958170	0.92726	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.91249	3.19	0.80722	D	1	P;P	0.45474	0.859;0.666	P;B	0.45639	0.488;0.236	D	0.84819	0.0795	9	0.87932	D	0	-21.7712	19.4744	0.94982	0.0:1.0:0.0:0.0	.	117;35	B4DZD6;Q49AN0-2	.;.	W	35;117	.	ENSP00000397419:R35W	R	+	1	2	CRY2	45834179	0.929000	0.31497	1.000000	0.80357	0.992000	0.81027	1.802000	0.38853	2.610000	0.88304	0.591000	0.81541	CGG		0.537	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117	
CELF1	10658	broad.mit.edu	37	11	47498509	47498509	+	Splice_Site	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:47498509C>A	ENST00000358597.3	-	9	892		c.e9-1		CELF1_ENST00000532048.1_Splice_Site|CELF1_ENST00000310513.5_Splice_Site|CELF1_ENST00000361904.3_Missense_Mutation_p.G295W|CELF1_ENST00000531165.1_Missense_Mutation_p.G326W|CELF1_ENST00000395292.2_Missense_Mutation_p.G295W|CELF1_ENST00000539455.1_5'Flank|CELF1_ENST00000395290.2_Splice_Site			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1						embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.?(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GGTGAGGACCCTGCTATTAGA	0.463																																					p.G295W	Pancreas(163;1949 1966 9906 43218 43785)											.	.	1	Unknown(1)	large_intestine(1)	c.G883T	11						.						86.0	83.0	84.0					11																	47498509		2201	4298	6499	47455085	SO:0001630	splice_region_variant	10658	exon10			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.893-1G>T	11.37:g.47498509C>A			47455085	NM_198700	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	CCDS31482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.266225|4.266225	0.80358|0.80358	.|.	.|.	ENSG00000149187|ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000310513;ENST00000532048|ENST00000395292;ENST00000361904;ENST00000531165	.|T;T;T	.|0.48522	.|0.81;0.81;0.81	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70404	.|0.3220	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72338	.|0.977;0.977	.|T	.|0.68209	.|-0.5469	.|7	.|.	.|.	.|.	.|.	20.2618|20.2618	0.98447|0.98447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|326;295	.|G5EA30;Q92879-3	.|.;.	.|W	-1|295;295;326	.|ENSP00000378706:G295W;ENSP00000354639:G295W;ENSP00000436864:G326W	.|.	.|G	-|-	.|1	.|0	CELF1|CELF1	47455085|47455085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.726000|5.726000	0.68515|0.68515	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	.|GGG		0.463	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560	Intron
FOLH1	2346	broad.mit.edu	37	11	49195003	49195003	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:49195003G>A	ENST00000256999.2	-	10	1391	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	FOLH1_ENST00000340334.7_Silent_p.H362H|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.H69H|FOLH1_ENST00000533034.1_Silent_p.H362H|FOLH1_ENST00000356696.3_Silent_p.H377H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	377	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.H377H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATGAGTCCCGGTGACCTCCCA	0.398																																					p.H362H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1086T	11						.						141.0	132.0	135.0					11																	49195003		2201	4295	6496	49151579	SO:0001819	synonymous_variant	2346	exon11			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1131C>T	11.37:g.49195003G>A			49151579	NM_001193471	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																				0.398	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR4S2	219431	broad.mit.edu	37	11	55419206	55419206	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:55419206T>A	ENST00000312422.2	+	1	827	c.827T>A	c.(826-828)aTc>aAc	p.I276N		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I276N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TACACCATTATCACTCCCATG	0.408																																					p.I276N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T827A	11						.						160.0	146.0	151.0					11																	55419206		2182	4035	6217	55175782	SO:0001583	missense	219431	exon1			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.827T>A	11.37:g.55419206T>A	ENSP00000310337:p.Ile276Asn		55175782	NM_001004059	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869396	0.51588	.	.	ENSG00000174982	ENST00000312422	T	0.00216	8.53	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.522907	0.17337	N	0.177877	T	0.00784	0.0026	H	0.95816	3.725	0.09310	N	1	D	0.67145	0.996	D	0.68621	0.959	T	0.29912	-0.9996	10	0.87932	D	0	.	10.3523	0.43943	0.0:0.0:0.1648:0.8352	.	276	Q8NH73	OR4S2_HUMAN	N	276	ENSP00000310337:I276N	ENSP00000310337:I276N	I	+	2	0	OR4S2	55175782	0.275000	0.24201	0.453000	0.27007	0.996000	0.88848	3.817000	0.55668	2.028000	0.59812	0.443000	0.29094	ATC		0.408	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
OR5M8	219484	broad.mit.edu	37	11	56258002	56258002	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:56258002G>T	ENST00000327216.2	-	1	869	c.845C>A	c.(844-846)cCt>cAt	p.P282H		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P282H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GTTCAGCATAGGGATTACTGT	0.323																																					p.P282H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C845A	11						.						45.0	52.0	50.0					11																	56258002		2201	4295	6496	56014578	SO:0001583	missense	219484	exon1			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.845C>A	11.37:g.56258002G>T	ENSP00000323354:p.Pro282His		56014578	NM_001005282	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588495	0.28357	.	.	ENSG00000181371	ENST00000327216	T	0.00349	7.99	4.26	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001688	T	0.01124	0.0037	H	0.94423	3.535	0.37297	D	0.908505	D	0.89917	1.0	D	0.78314	0.991	T	0.47923	-0.9079	10	0.87932	D	0	-29.4846	12.1653	0.54127	0.0:0.1746:0.8254:0.0	.	282	Q8NGP6	OR5M8_HUMAN	H	282	ENSP00000323354:P282H	ENSP00000323354:P282H	P	-	2	0	OR5M8	56014578	1.000000	0.71417	0.944000	0.38274	0.008000	0.06430	5.323000	0.65858	0.907000	0.36646	-0.318000	0.08688	CCT		0.323	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282	
SERPING1	710	broad.mit.edu	37	11	57381952	57381952	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:57381952C>A	ENST00000278407.4	+	8	1628	c.1401C>A	c.(1399-1401)acC>acA	p.T467T	SERPING1_ENST00000378324.2_Silent_p.T415T|SERPING1_ENST00000340687.6_Silent_p.T430T|SERPING1_ENST00000403558.1_Silent_p.T510T|SERPING1_ENST00000378323.4_Silent_p.T472T	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	467		Reactive bond.	T -> P (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:8529136}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T467T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGGCCCGCACCCTGCTGGTCT	0.602																																					p.T467T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1401A	11						.						43.0	43.0	43.0					11																	57381952		2201	4296	6497	57138528	SO:0001819	synonymous_variant	710	exon8			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1401C>A	11.37:g.57381952C>A			57138528	NM_000062	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	CCDS7962.1																																																																																				0.602	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
OR5B3	441608	broad.mit.edu	37	11	58170416	58170416	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:58170416A>T	ENST00000309403.2	-	1	466	c.467T>A	c.(466-468)aTc>aAc	p.I156N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I156N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCAGTGTGGATGGAGGCATT	0.473																																					p.I156N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T467A	11						.						116.0	106.0	109.0					11																	58170416		2201	4295	6496	57926992	SO:0001583	missense	441608	exon1			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.467T>A	11.37:g.58170416A>T	ENSP00000308270:p.Ile156Asn		57926992	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	11.32	1.603287	0.28534	.	.	ENSG00000172769	ENST00000309403	T	0.38722	1.12	3.96	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.134693	0.33650	N	0.004692	T	0.61627	0.2362	M	0.88979	2.995	0.09310	N	1	D	0.57257	0.979	D	0.64877	0.93	T	0.54483	-0.8287	10	0.87932	D	0	-41.5687	5.0104	0.14310	0.7152:0.1846:0.1003:0.0	.	156	Q8NH48	OR5B3_HUMAN	N	156	ENSP00000308270:I156N	ENSP00000308270:I156N	I	-	2	0	OR5B3	57926992	0.001000	0.12720	0.015000	0.15790	0.333000	0.28666	1.594000	0.36697	0.688000	0.31529	0.477000	0.44152	ATC		0.473	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
DTX4	23220	broad.mit.edu	37	11	58958609	58958609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:58958609delA	ENST00000227451.3	+	5	1286	c.1182delA	c.(1180-1182)ctafs	p.L394fs	DTX4_ENST00000532982.1_Frame_Shift_Del_p.L288fs|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	394					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K290fs*34(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGGAAGTGCTAAAAAAATATC	0.502																																					p.L394fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1182delA	11						.						38.0	37.0	37.0					11																	58958609		1886	4085	5971	58715185	SO:0001589	frameshift_variant	23220	exon5			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1182delA	11.37:g.58958609delA	ENSP00000227451:p.Leu394fs		58715185	NM_015177	Q0VF38	Frame_Shift_Del	DEL	ENST00000227451.3	37	CCDS44612.1																																																																																				0.502	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213	
OR5A2	219981	broad.mit.edu	37	11	59189789	59189789	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:59189789A>G	ENST00000302040.4	-	1	660	c.638T>C	c.(637-639)cTa>cCa	p.L213P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213P(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GAGGACCACTAGCACAGACAC	0.512																																					p.L213P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T638C	11						.						120.0	101.0	108.0					11																	59189789		2201	4295	6496	58946365	SO:0001583	missense	219981	exon1			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.638T>C	11.37:g.59189789A>G	ENSP00000303834:p.Leu213Pro		58946365	NM_001001954	B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447797	0.43429	.	.	ENSG00000172324	ENST00000302040	T	0.44881	0.91	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30428	U	0.009657	T	0.68760	0.3036	M	0.92367	3.3	0.09310	N	0.999995	D	0.76494	0.999	D	0.78314	0.991	T	0.67492	-0.5657	10	0.87932	D	0	.	8.367	0.32393	0.9123:0.0:0.0877:0.0	.	213	Q8NGI9	OR5A2_HUMAN	P	213	ENSP00000303834:L213P	ENSP00000303834:L213P	L	-	2	0	OR5A2	58946365	0.002000	0.14202	0.005000	0.12908	0.015000	0.08874	2.059000	0.41384	2.212000	0.71576	0.477000	0.44152	CTA		0.512	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954	
SCGB1D1	10648	broad.mit.edu	37	11	61959539	61959539	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:61959539G>A	ENST00000306238.3	+	2	136	c.67G>A	c.(67-69)Gtc>Atc	p.V23I		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	23						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)	p.V23I(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						AAATGCAGTGGTCTGCCAAGC	0.438																																					p.V23I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G67A	11						.						55.0	54.0	54.0					11																	61959539		2202	4299	6501	61716115	SO:0001583	missense	10648	exon2			AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.67G>A	11.37:g.61959539G>A	ENSP00000303070:p.Val23Ile		61716115	NM_006552		Missense_Mutation	SNP	ENST00000306238.3	37	CCDS8015.1	.	.	.	.	.	.	.	.	.	.	G	3.060	-0.193422	0.06259	.	.	ENSG00000168515	ENST00000306238	T	0.30182	1.54	3.75	-5.42	0.02640	.	1.208060	0.06817	N	0.791406	T	0.14141	0.0342	.	.	.	0.09310	N	1	B	0.29862	0.259	B	0.20955	0.032	T	0.18241	-1.0343	9	0.25751	T	0.34	.	5.8535	0.18707	0.5063:0.2598:0.2339:0.0	.	23	O95968	SG1D1_HUMAN	I	23	ENSP00000303070:V23I	ENSP00000303070:V23I	V	+	1	0	SCGB1D1	61716115	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.342000	0.01099	-1.358000	0.02177	-0.300000	0.09419	GTC		0.438	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1	NM_006552	
LGALS12	85329	broad.mit.edu	37	11	63283770	63283770	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:63283770G>T	ENST00000394618.3	+	9	1207	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	LGALS12_ENST00000340246.5_Missense_Mutation_p.G307W|LGALS12_ENST00000415491.2_Missense_Mutation_p.G245W|LGALS12_ENST00000425950.2_Missense_Mutation_p.G236W|LGALS12_ENST00000255684.5_Missense_Mutation_p.G297W	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	306	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.G306W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CAATGGGCAGGGGCTGGGGGC	0.632																																					p.G297W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G889T	11						.						47.0	48.0	48.0					11																	63283770		2201	4298	6499	63040346	SO:0001583	missense	85329	exon8			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.916G>T	11.37:g.63283770G>T	ENSP00000378116:p.Gly306Trp		63040346	NM_001142536	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003343	0.54254	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	5.67	3.79	0.43588	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.457275	0.20491	N	0.091294	T	0.16727	0.0402	L	0.51422	1.61	0.34464	D	0.702095	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.87578	0.998;0.995;0.947;0.996	T	0.11179	-1.0598	10	0.59425	D	0.04	-12.0215	8.1681	0.31239	0.0843:0.1579:0.7578:0.0	.	266;307;297;306	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	W	297;306;307;245;236	ENSP00000255684:G297W;ENSP00000378116:G306W;ENSP00000339374:G307W;ENSP00000394659:G245W;ENSP00000399093:G236W	ENSP00000255684:G297W	G	+	1	0	LGALS12	63040346	0.993000	0.37304	0.955000	0.39395	0.582000	0.36321	3.095000	0.50235	0.854000	0.35336	0.655000	0.94253	GGG		0.632	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	
RARRES3	5920	broad.mit.edu	37	11	63312165	63312165	+	Missense_Mutation	SNP	G	G	A	rs368947257		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:63312165G>A	ENST00000255688.3	+	3	239	c.191G>A	c.(190-192)cGc>cAc	p.R64H	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64H|RARRES3_ENST00000439013.2_Missense_Mutation_p.R64H	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	64					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)	p.R64H(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AAACGGGAGCGCCTGGAAGAT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17255	0.0		0.0	False		,,,				2504	0.001				p.R64H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	11						.	G	HIS/ARG	0,3986		0,0,1993	95.0	105.0	102.0		191	-8.6	0.0	11		102	1,8343		0,1,4171	no	missense	RARRES3	NM_004585.3	29	0,1,6164	AA,AG,GG		0.012,0.0,0.0081	benign	64/165	63312165	1,12329	1993	4172	6165	63068741	SO:0001583	missense	5920	exon3				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.191G>A	11.37:g.63312165G>A	ENSP00000255688:p.Arg64His		63068741	NM_004585	B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	G	1.262	-0.615461	0.03663	0.0	1.2E-4	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.22336	1.96;1.96;1.96	4.29	-8.58	0.00897	NC (1);	1.229820	0.05716	N	0.596757	T	0.12135	0.0295	L	0.34521	1.04	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.20874	-1.0262	10	0.41790	T	0.15	.	2.5397	0.04722	0.1687:0.3191:0.1437:0.3685	.	64	Q9UL19	TIG3_HUMAN	H	64	ENSP00000402943:R64H;ENSP00000255688:R64H;ENSP00000346431:R64H	ENSP00000255688:R64H	R	+	2	0	RARRES3	63068741	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.610000	0.00018	-6.119000	0.00006	-2.754000	0.00123	CGC		0.582	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1		
SLC22A12	116085	broad.mit.edu	37	11	64361211	64361211	+	Missense_Mutation	SNP	C	C	T	rs545057478		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:64361211C>T	ENST00000377574.1	+	4	1513	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000473690.1_Missense_Mutation_p.R35W|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R222W	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	256					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.R256W(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTACGGTGTGCGGGACTGGAC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19197	0.0		0.001	False		,,,				2504	0.0				p.R35W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C103T	11						.						129.0	117.0	121.0					11																	64361211		2201	4297	6498	64117787	SO:0001583	missense	116085	exon4			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.766C>T	11.37:g.64361211C>T	ENSP00000366797:p.Arg256Trp		64117787	NM_153378	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361866	0.61403	.	.	ENSG00000197891	ENST00000377574;ENST00000473690;ENST00000336464	T;T;T	0.57436	0.4;0.4;0.4	4.27	3.26	0.37387	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061397	0.64402	D	0.000006	T	0.75715	0.3887	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	T	0.79883	-0.1615	10	0.87932	D	0	.	8.8381	0.35123	0.224:0.776:0.0:0.0	.	222;256;256	B5ME56;B3KV05;Q96S37	.;.;S22AC_HUMAN	W	256;35;222	ENSP00000366797:R256W;ENSP00000438437:R35W;ENSP00000336836:R222W	ENSP00000336836:R222W	R	+	1	2	SLC22A12	64117787	0.997000	0.39634	0.111000	0.21465	0.034000	0.12701	1.488000	0.35551	2.071000	0.62044	0.485000	0.47835	CGG		0.632	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585	
CATSPER1	117144	broad.mit.edu	37	11	65789270	65789270	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:65789270G>T	ENST00000312106.5	-	3	1647	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	504					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L504I(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGTACGAGAGGCCCAGGGCG	0.577																																					p.L504I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1510A	11						.						147.0	131.0	137.0					11																	65789270		2201	4296	6497	65545846	SO:0001583	missense	117144	exon3			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1510C>A	11.37:g.65789270G>T	ENSP00000309052:p.Leu504Ile		65545846	NM_053054	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873057	0.51695	.	.	ENSG00000175294	ENST00000312106	D	0.98531	-4.98	4.7	-6.21	0.02065	Ion transport (1);	0.934142	0.08680	N	0.909567	D	0.96331	0.8803	L	0.46741	1.465	0.09310	N	1	P	0.43750	0.816	P	0.52109	0.69	D	0.92423	0.5947	10	0.45353	T	0.12	-2.6813	3.1811	0.06584	0.542:0.1214:0.2138:0.1228	.	504	Q8NEC5	CTSR1_HUMAN	I	504	ENSP00000309052:L504I	ENSP00000309052:L504I	L	-	1	0	CATSPER1	65545846	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.250000	0.02885	-1.305000	0.02327	0.448000	0.29417	CTC		0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	
KLC2	64837	broad.mit.edu	37	11	66033583	66033583	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:66033583G>T	ENST00000417856.1	+	14	1865	c.1622G>T	c.(1621-1623)aGg>aTg	p.R541M	RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000421552.1_Missense_Mutation_p.R464M|KLC2_ENST00000394067.2_Missense_Mutation_p.R541M|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394066.2_Missense_Mutation_p.R464M|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.R402M|KLC2_ENST00000316924.5_Missense_Mutation_p.R541M	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	541					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.R541M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGCTCCTTGAGGCGCAGCGGT	0.682																																					p.R541M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622T	11						.						36.0	39.0	38.0					11																	66033583		2200	4295	6495	65790159	SO:0001583	missense	64837	exon14			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1622G>T	11.37:g.66033583G>T	ENSP00000399403:p.Arg541Met		65790159	NM_001134775	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591012	0.28357	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.85702	-1.43;-1.43;-1.43;-1.43;-1.43;-2.02	4.11	3.12	0.35913	.	0.000000	0.64402	D	0.000004	T	0.79353	0.4431	L	0.44542	1.39	0.39805	D	0.972628	P;P;B	0.50943	0.94;0.838;0.215	P;B;B	0.47206	0.541;0.276;0.091	T	0.77091	-0.2716	10	0.36615	T	0.2	-22.3021	5.045	0.14479	0.1175:0.2182:0.6643:0.0	.	402;464;541	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	M	541;541;541;464;464;402	ENSP00000399403:R541M;ENSP00000377631:R541M;ENSP00000314837:R541M;ENSP00000408484:R464M;ENSP00000377630:R464M;ENSP00000377629:R402M	ENSP00000314837:R541M	R	+	2	0	KLC2	65790159	1.000000	0.71417	0.999000	0.59377	0.338000	0.28826	2.032000	0.41127	1.857000	0.53885	0.491000	0.48974	AGG		0.682	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	
ZDHHC24	254359	broad.mit.edu	37	11	66307089	66307089	+	Missense_Mutation	SNP	C	C	T	rs372147730		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:66307089C>T	ENST00000310442.3	-	3	1000	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	ZDHHC24_ENST00000525925.1_5'Flank|ZDHHC24_ENST00000526986.1_Intron|CTD-3074O7.12_ENST00000602427.1_lincRNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	256						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V256I(1)		endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CAGAGCCAGACGAGGGCCCAG	0.672																																					p.V256I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G766A	11						.	C	ILE/VAL	1,4399		0,1,2199	21.0	25.0	23.0		766	4.9	0.9	11		23	1,8589		0,1,4294	no	missense	ZDHHC24	NM_207340.1	29	0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154	benign	256/285	66307089	2,12988	2200	4295	6495	66063665	SO:0001583	missense	254359	exon3			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.766G>A	11.37:g.66307089C>T	ENSP00000309429:p.Val256Ile		66063665	NM_207340	Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003162	0.35320	2.27E-4	1.16E-4	ENSG00000174165	ENST00000310442	T	0.80393	-1.37	4.95	4.95	0.65309	.	0.138927	0.48286	D	0.000195	T	0.69797	0.3151	L	0.31578	0.945	0.33729	D	0.617933	B	0.09022	0.002	B	0.04013	0.001	T	0.70676	-0.4806	10	0.22706	T	0.39	-31.9008	13.6868	0.62522	0.0:1.0:0.0:0.0	.	256	Q6UX98	ZDH24_HUMAN	I	256	ENSP00000309429:V256I	ENSP00000309429:V256I	V	-	1	0	ZDHHC24	66063665	0.972000	0.33761	0.926000	0.36857	0.659000	0.38960	2.358000	0.44134	2.274000	0.75844	0.491000	0.48974	GTC		0.672	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340	
IGHMBP2	3508	broad.mit.edu	37	11	68701946	68701946	+	Missense_Mutation	SNP	G	G	A	rs373828321		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:68701946G>A	ENST00000255078.3	+	11	1663	c.1552G>A	c.(1552-1554)Gtc>Atc	p.V518I	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	518					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.V518I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTCCGCCTCGTCAGTTTGCA	0.577																																					p.V518I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1552A	11						.	G	ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	118.0	96.0	104.0		1552	4.9	0.9	11		104	0,8588		0,0,4294	no	missense	IGHMBP2	NM_002180.2	29	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	518/994	68701946	1,12987	2200	4294	6494	68458522	SO:0001583	missense	3508	exon11			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1552G>A	11.37:g.68701946G>A	ENSP00000255078:p.Val518Ile		68458522	NM_002180	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924990	0.92319	2.27E-4	0.0	ENSG00000132740	ENST00000255078	D	0.93247	-3.19	4.94	4.94	0.65067	.	0.142052	0.48286	N	0.000187	D	0.95825	0.8641	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.95716	0.8762	10	0.49607	T	0.09	-14.2684	16.9429	0.86223	0.0:0.0:1.0:0.0	.	518	P38935	SMBP2_HUMAN	I	518	ENSP00000255078:V518I	ENSP00000255078:V518I	V	+	1	0	IGHMBP2	68458522	1.000000	0.71417	0.943000	0.38184	0.852000	0.48524	9.327000	0.96396	2.276000	0.75962	0.491000	0.48974	GTC		0.577	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180	
ARAP1	116985	broad.mit.edu	37	11	72423330	72423330	+	Silent	SNP	C	C	T	rs148479849		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:72423330C>T	ENST00000393609.3	-	7	1135	c.933G>A	c.(931-933)gcG>gcA	p.A311A	ARAP1_ENST00000393605.3_Silent_p.A71A|ARAP1_ENST00000359373.5_Silent_p.A311A|ARAP1_ENST00000426523.1_Silent_p.A66A|ARAP1_ENST00000334211.8_Silent_p.A66A|ARAP1_ENST00000429686.1_Silent_p.A66A|ARAP1_ENST00000455638.2_Silent_p.A311A	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	311					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A71A(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGGGTGTGGCGCAGCTATTG	0.662																																					p.A311A	Ovarian(102;1198 1520 13195 17913 37529)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G933A	11						.	C	,,	2,4398	4.2+/-10.8	0,2,2198	29.0	30.0	30.0		933,198,198	-7.5	0.0	11	dbSNP_134	30	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	ARAP1	NM_001040118.2,NM_001135190.1,NM_015242.4	,,	0,2,6491	TT,TC,CC		0.0,0.0455,0.0154	,,	311/1451,66/1134,66/1206	72423330	2,12984	2200	4293	6493	72100978	SO:0001819	synonymous_variant	116985	exon7			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.933G>A	11.37:g.72423330C>T			72100978	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																				0.662	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
OMP	4975	broad.mit.edu	37	11	76814151	76814151	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:76814151C>A	ENST00000529803.1	+	1	266	c.266C>A	c.(265-267)cCt>cAt	p.P89H	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	89					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.P89H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AACTGGACGCCTGACCTCACC	0.607																																					p.P89H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C266A	11						.						53.0	65.0	61.0					11																	76814151		2184	4263	6447	76491799	SO:0001583	missense	4975	exon1			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.266C>A	11.37:g.76814151C>A	ENSP00000436376:p.Pro89His		76491799	NM_006189	Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592893	0.86953	.	.	ENSG00000254550	ENST00000529803	T	0.54071	0.59	5.29	5.29	0.74685	.	.	.	.	.	T	0.64583	0.2611	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.66960	-0.5791	9	0.87932	D	0	.	18.0903	0.89472	0.0:1.0:0.0:0.0	.	89	P47874	OMP_HUMAN	H	89	ENSP00000436376:P89H	ENSP00000436376:P89H	P	+	2	0	OMP	76491799	1.000000	0.71417	0.988000	0.46212	0.927000	0.56198	7.156000	0.77453	2.757000	0.94681	0.462000	0.41574	CCT		0.607	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189	
MYO7A	4647	broad.mit.edu	37	11	76858897	76858897	+	Silent	SNP	G	G	A	rs368267301	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:76858897G>A	ENST00000409709.3	+	4	458	c.186G>A	c.(184-186)acG>acA	p.T62T	MYO7A_ENST00000409893.1_Silent_p.T62T|MYO7A_ENST00000409619.2_Silent_p.T51T|MYO7A_ENST00000458637.2_Silent_p.T62T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	62					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.T62T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCACCCCACGTCGGTCCACG	0.642													G|||	3	0.000599042	0.0015	0.0	5008	,	,		12268	0.001		0.0	False		,,,				2504	0.0				p.T62T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G186A	11						.	G	,,	3,4201		0,3,2099	32.0	37.0	35.0		186,186,186	-8.3	0.8	11		35	1,8433		0,1,4216	no	coding-synonymous,coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127179.2,NM_001127180.1	,,	0,4,6315	AA,AG,GG		0.0119,0.0714,0.0317	,,	62/2216,62/1179,62/2176	76858897	4,12634	2102	4217	6319	76536545	SO:0001819	synonymous_variant	4647	exon4			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.186G>A	11.37:g.76858897G>A			76536545	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																				0.642	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
SYTL2	54843	broad.mit.edu	37	11	85435181	85435181	+	Intron	SNP	C	C	T	rs566151505		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:85435181C>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000354566.3_Silent_p.S773S|SYTL2_ENST00000359152.5_Silent_p.S1297S|SYTL2_ENST00000525423.1_Silent_p.S773S|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S773S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCATATATGGCGATGCTAGAG	0.383																																					p.S773S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2319A	11						.						89.0	90.0	90.0					11																	85435181		2203	4299	6502	85112829	SO:0001627	intron_variant	54843	exon1			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3179G>A	11.37:g.85435181C>T			85112829	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.383	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
SYTL2	54843	broad.mit.edu	37	11	85445574	85445574	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:85445574C>T	ENST00000528231.1	-	6	1072	c.795G>A	c.(793-795)gcG>gcA	p.A265A	SYTL2_ENST00000316356.4_Silent_p.A266A|SYTL2_ENST00000389960.4_Silent_p.A265A|SYTL2_ENST00000524452.1_Silent_p.A265A|SYTL2_ENST00000527523.1_Silent_p.A217A	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	265					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.A266A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAGCCCCTCTCGCTTTCAGGG	0.448																																					p.A265A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G795A	11						.						127.0	130.0	129.0					11																	85445574		2203	4299	6502	85123222	SO:0001819	synonymous_variant	54843	exon7			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.795G>A	11.37:g.85445574C>T			85123222	NM_032943	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.448	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
CCDC81	60494	broad.mit.edu	37	11	86123463	86123463	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:86123463C>A	ENST00000445632.2	+	11	1525	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	CCDC81_ENST00000528728.1_Missense_Mutation_p.P153H|CCDC81_ENST00000278487.3_Missense_Mutation_p.P153H|CCDC81_ENST00000354755.1_Missense_Mutation_p.P328H	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	418								p.P328H(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCACTCAGTCCTGCGCTTAAT	0.378																																					p.P328H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C983A	11						.						116.0	115.0	115.0					11																	86123463		2202	4299	6501	85801111	SO:0001583	missense	60494	exon10			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1253C>A	11.37:g.86123463C>A	ENSP00000415528:p.Pro418His		85801111	NM_021827	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897363	0.72639	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.51	5.51	0.81932	.	0.205068	0.40554	N	0.001065	T	0.66723	0.2818	M	0.78049	2.395	0.41882	D	0.990327	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.98;0.994;0.964	T	0.67910	-0.5548	9	.	.	.	-1.9456	18.2109	0.89869	0.0:1.0:0.0:0.0	.	153;418;328	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	H	328;153;418;153	ENSP00000346800:P328H;ENSP00000278487:P153H;ENSP00000415528:P418H;ENSP00000437165:P153H	.	P	+	2	0	CCDC81	85801111	1.000000	0.71417	0.999000	0.59377	0.627000	0.37826	4.511000	0.60462	2.581000	0.87130	0.655000	0.94253	CCT		0.378	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
GRM5	2915	broad.mit.edu	37	11	88241905	88241905	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:88241905delG	ENST00000305447.4	-	9	3643	c.3494delC	c.(3493-3495)ccgfs	p.P1166fs	GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000418177.2_Frame_Shift_Del_p.P1166fs|GRM5_ENST00000455756.2_Frame_Shift_Del_p.P1134fs|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305432.5_Frame_Shift_Del_p.P1134fs	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1166					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.P1165fs*38(1)|p.P1133fs*38(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GGGGGACGGCGGGGTGAGAGC	0.716																																					p.P1133fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.3398delC	11						.						9.0	11.0	10.0					11																	88241905		2155	4271	6426	87881553	SO:0001589	frameshift_variant	2915	exon9			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3494delC	11.37:g.88241905delG	ENSP00000306138:p.Pro1166fs		87881553	NM_000842	Q6J164	Frame_Shift_Del	DEL	ENST00000305447.4	37	CCDS44694.1																																																																																				0.716	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
FAT3	120114	broad.mit.edu	37	11	92543143	92543143	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:92543143C>A	ENST00000298047.6	+	12	9399	c.9382C>A	c.(9382-9384)Ccc>Acc	p.P3128T	FAT3_ENST00000525166.1_Missense_Mutation_p.P2978T|FAT3_ENST00000409404.2_Missense_Mutation_p.P3128T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3128	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.P3128T(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)				GAATGATAACCCCCCTGTGTT	0.552										TCGA Ovarian(4;0.039)																											p.P3128T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9382A	11						.						77.0	78.0	78.0					11																	92543143		1932	4129	6061	92182791	SO:0001583	missense	120114	exon12			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.9382C>A	11.37:g.92543143C>A	ENSP00000298047:p.Pro3128Thr		92182791	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	15.75	2.924289	0.52653	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01613	4.73;4.73;4.73	5.16	5.16	0.70880	.	.	.	.	.	T	0.07143	0.0181	L	0.54965	1.715	0.80722	D	1	D	0.61080	0.989	D	0.63793	0.918	T	0.54860	-0.8230	9	0.19590	T	0.45	.	18.6484	0.91419	0.0:1.0:0.0:0.0	.	3128	Q8TDW7-3	.	T	3128;3128;2978	ENSP00000298047:P3128T;ENSP00000387040:P3128T;ENSP00000432586:P2978T	ENSP00000298047:P3128T	P	+	1	0	FAT3	92182791	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.952000	0.56691	2.417000	0.82017	0.563000	0.77884	CCC		0.552	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92600167	92600167	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:92600167G>A	ENST00000298047.6	+	21	11936	c.11919G>A	c.(11917-11919)acG>acA	p.T3973T	FAT3_ENST00000525166.1_Silent_p.T3823T|FAT3_ENST00000533797.1_Silent_p.T308T|FAT3_ENST00000409404.2_Silent_p.T3973T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3973	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.T548T(1)		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)				TGACTGACACGCGGGTCACGC	0.627										TCGA Ovarian(4;0.039)																											p.T3973T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G11919A	11						.						14.0	16.0	16.0					11																	92600167		1971	4164	6135	92239815	SO:0001819	synonymous_variant	120114	exon21			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.11919G>A	11.37:g.92600167G>A			92239815	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.627	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
MED17	9440	broad.mit.edu	37	11	93540767	93540767	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:93540767A>G	ENST00000251871.3	+	10	1837	c.1550A>G	c.(1549-1551)cAg>cGg	p.Q517R	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	517					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Q517R(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGTCTTATCAGGAGCAGGAG	0.388																																					p.Q517R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1550G	11						.						186.0	182.0	183.0					11																	93540767		2201	4298	6499	93180415	SO:0001583	missense	9440	exon10			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1550A>G	11.37:g.93540767A>G	ENSP00000251871:p.Gln517Arg		93180415	NM_004268	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836114	0.71373	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.56103	0.48	5.74	5.74	0.90152	.	0.047736	0.85682	D	0.000000	T	0.51227	0.1662	L	0.44542	1.39	0.80722	D	1	P	0.48230	0.907	B	0.44224	0.444	T	0.56541	-0.7962	10	0.72032	D	0.01	-10.7918	16.3426	0.83092	1.0:0.0:0.0:0.0	.	517	Q9NVC6	MED17_HUMAN	R	517;487	ENSP00000251871:Q517R	ENSP00000251871:Q517R	Q	+	2	0	MED17	93180415	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.093000	0.94163	2.317000	0.78254	0.460000	0.39030	CAG		0.388	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	
FOLR4	390243	broad.mit.edu	37	11	94040693	94040693	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:94040693C>T	ENST00000440961.2	+	4	611	c.567C>T	c.(565-567)gcC>gcT	p.A189A		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	196					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A190A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCTTCAAAGCCAGCCCTGAGC	0.612																																					p.A196A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	11						.						101.0	107.0	105.0					11																	94040693		2009	4154	6163	93680341	SO:0001819	synonymous_variant	390243	exon4					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.567C>T	11.37:g.94040693C>T			93680341	NM_001199206		Silent	SNP	ENST00000440961.2	37		.	.	.	.	.	.	.	.	.	.	C	5.617	0.298601	0.10622	.	.	ENSG00000183560	ENST00000328458	.	.	.	4.33	-8.66	0.00866	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.34917	D	0.748044	.	.	.	.	.	.	T	0.38090	-0.9677	4	.	.	.	-14.4888	3.1903	0.06615	0.4465:0.3145:0.0922:0.1468	.	.	.	.	L	190	.	.	P	+	2	0	FOLR4	93680341	0.004000	0.15560	0.000000	0.03702	0.855000	0.48748	-1.814000	0.01723	-3.818000	0.00103	-0.479000	0.04858	CCA		0.612	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486	
MAML2	84441	broad.mit.edu	37	11	95712226	95712226	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:95712226G>A	ENST00000524717.1	-	5	4641	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1119					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G1119G(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTAGGGCAGGGCCCATGTTAT	0.418			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																p.G1119G			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3357T	11						.						134.0	130.0	131.0					11																	95712226		1897	4121	6018	95351874	SO:0001819	synonymous_variant	84441	exon5			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3357C>T	11.37:g.95712226G>A			95351874	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.418	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
PRDM10	56980	broad.mit.edu	37	11	129830816	129830816	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr11:129830816G>A	ENST00000360871.3	-	2	275	c.44C>T	c.(43-45)gCa>gTa	p.A15V	PRDM10_ENST00000358825.5_Missense_Mutation_p.A15V|PRDM10_ENST00000528746.1_Missense_Mutation_p.A15V	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A15V(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTCATGCTCTGCAGATGTCGG	0.507																																					p.A15V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	11						.						144.0	129.0	134.0					11																	129830816		2201	4297	6498	129336026	SO:0001583	missense	56980	exon2			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.44C>T	11.37:g.129830816G>A	ENSP00000354118:p.Ala15Val		129336026	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922823	0.52653	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.50277	2.89;2.9;2.85;0.82;0.75	5.39	5.39	0.77823	.	0.360466	0.26241	N	0.025507	T	0.31888	0.0811	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.10450	0.005;0.004;0.001	T	0.08432	-1.0722	10	0.42905	T	0.14	-12.7335	12.8166	0.57669	0.0751:0.0:0.9249:0.0	.	15;15;15	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	V	15	ENSP00000351686:A15V;ENSP00000354118:A15V;ENSP00000431262:A15V;ENSP00000432093:A15V;ENSP00000436681:A15V	ENSP00000351686:A15V	A	-	2	0	PRDM10	129336026	0.996000	0.38824	0.875000	0.34327	0.021000	0.10359	2.907000	0.48743	2.692000	0.91855	0.650000	0.86243	GCA		0.507	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
NAA25	80018	broad.mit.edu	37	12	112516496	112516497	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:112516496_112516497insG	ENST00000261745.4	-	6	774_775	c.526_527insC	c.(526-528)cttfs	p.L176fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	176						cytoplasm (GO:0005737)		p.L176fs*3(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTCTCAGCAAGGGGCAGAAAC	0.371																																					p.L176fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.527_528insC	12						.																																			111000880	SO:0001589	frameshift_variant	80018	exon6			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.527dupC	12.37:g.112516500_112516500dupG	ENSP00000261745:p.Leu176fs		111000879	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Frame_Shift_Ins	INS	ENST00000261745.4	37	CCDS9159.1																																																																																				0.371	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
UTP20	27340	broad.mit.edu	37	12	101763511	101763511	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:101763511G>A	ENST00000261637.4	+	49	6571	c.6397G>A	c.(6397-6399)Gct>Act	p.A2133T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2133					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.A2133T(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						GATCACAGGTGCTTTACAGTG	0.453																																					p.A2133T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6397A	12						.						112.0	113.0	113.0					12																	101763511		2203	4300	6503	100287642	SO:0001583	missense	27340	exon49			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.6397G>A	12.37:g.101763511G>A	ENSP00000261637:p.Ala2133Thr		100287642	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021177	0.35701	.	.	ENSG00000120800	ENST00000261637	T	0.71579	-0.58	5.75	4.83	0.62350	Armadillo-type fold (1);	0.049677	0.85682	N	0.000000	T	0.68495	0.3007	M	0.66506	2.035	0.80722	D	1	B	0.17268	0.021	B	0.21917	0.037	T	0.64918	-0.6294	10	0.38643	T	0.18	-10.7698	12.4837	0.55859	0.0862:0.0:0.9138:0.0	.	2133	O75691	UTP20_HUMAN	T	2133	ENSP00000261637:A2133T	ENSP00000261637:A2133T	A	+	1	0	UTP20	100287642	1.000000	0.71417	0.844000	0.33320	0.081000	0.17604	4.535000	0.60629	1.335000	0.45486	0.650000	0.86243	GCT		0.453	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
CHPT1	56994	broad.mit.edu	37	12	102091870	102091870	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:102091870C>A	ENST00000229266.3	+	1	466	c.231C>A	c.(229-231)acC>acA	p.T77T	CHPT1_ENST00000550385.1_Intron|CHPT1_ENST00000549872.1_Silent_p.T77T	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	77					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)	p.T77T(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACGTGGTCACCACGCTCGTGC	0.692																																					p.T77T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231A	12						.						36.0	20.0	26.0					12																	102091870		2200	4295	6495	100616001	SO:0001819	synonymous_variant	56994	exon1				CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.231C>A	12.37:g.102091870C>A			100616001	NM_020244	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Silent	SNP	ENST00000229266.3	37	CCDS9086.1																																																																																				0.692	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244	
HSP90B1	7184	broad.mit.edu	37	12	104326648	104326648	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:104326648T>A	ENST00000299767.5	+	4	521	c.339T>A	c.(337-339)gaT>gaA	p.D113E	MIR3652_ENST00000579335.1_RNA|RP11-642P15.1_ENST00000548897.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	113					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.D113E(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATGCTTTAGATAAGATAAGGC	0.343																																					p.D113E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T339A	12						.						121.0	122.0	122.0					12																	104326648		2203	4300	6503	102850778	SO:0001583	missense	7184	exon4			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.339T>A	12.37:g.104326648T>A	ENSP00000299767:p.Asp113Glu		102850778	NM_003299	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374221	0.61735	.	.	ENSG00000166598	ENST00000549334;ENST00000299767;ENST00000537375	T;D	0.94687	-1.07;-3.49	6.17	2.56	0.30785	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.96106	0.8731	M	0.70842	2.15	0.80722	D	1	P;D	0.89917	0.937;1.0	P;D	0.97110	0.782;1.0	D	0.95128	0.8252	10	0.87932	D	0	.	9.6143	0.39681	0.0:0.2017:0.0:0.7983	.	139;113	Q59FC6;P14625	.;ENPL_HUMAN	E	29;113;113	ENSP00000446748:D29E;ENSP00000299767:D113E	ENSP00000299767:D113E	D	+	3	2	HSP90B1	102850778	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	1.430000	0.34914	0.576000	0.29452	0.533000	0.62120	GAT		0.343	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	
GLT8D2	83468	broad.mit.edu	37	12	104383249	104383249	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:104383249G>A	ENST00000360814.4	-	11	1392	c.987C>T	c.(985-987)gaC>gaT	p.D329D	GLT8D2_ENST00000546436.1_Silent_p.D329D|GLT8D2_ENST00000548660.1_Silent_p.D329D	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	329						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.D329D(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTTCCCATAAGTCGTTGTGAA	0.408																																					p.D329D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	12						.						114.0	110.0	111.0					12																	104383249		2203	4300	6503	102907379	SO:0001819	synonymous_variant	83468	exon11			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.987C>T	12.37:g.104383249G>A			102907379	NM_031302	Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																				0.408	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
NUAK1	9891	broad.mit.edu	37	12	106461242	106461242	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:106461242G>T	ENST00000261402.2	-	7	2703	c.1324C>A	c.(1324-1326)Ctc>Atc	p.L442I		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	442					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.L442I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GAGCTTGGGAGGAGCACGCCA	0.557																																					p.L442I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1324A	12						.						71.0	69.0	69.0					12																	106461242		2203	4300	6503	104985372	SO:0001583	missense	9891	exon7			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1324C>A	12.37:g.106461242G>T	ENSP00000261402:p.Leu442Ile		104985372	NM_014840	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257299	0.22965	.	.	ENSG00000074590	ENST00000261402	T	0.72725	-0.68	5.56	3.72	0.42706	.	0.293713	0.24483	N	0.038136	T	0.42086	0.1187	N	0.02011	-0.69	0.31724	N	0.637949	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.26408	T	0.33	.	10.6611	0.45702	0.0:0.2098:0.6209:0.1693	.	442	O60285	NUAK1_HUMAN	I	442	ENSP00000261402:L442I	ENSP00000261402:L442I	L	-	1	0	NUAK1	104985372	1.000000	0.71417	0.178000	0.23040	0.718000	0.41266	2.115000	0.41921	0.694000	0.31654	0.491000	0.48974	CTC		0.557	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840	
CKAP4	10970	broad.mit.edu	37	12	106633892	106633892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:106633892C>T	ENST00000378026.4	-	2	855	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	240						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R240Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTCCGTCAGCCGCTCCTCCAC	0.542																																					p.R240Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G719A	12						.						96.0	90.0	92.0					12																	106633892		2203	4300	6503	105158022	SO:0001583	missense	10970	exon2			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.719G>A	12.37:g.106633892C>T	ENSP00000367265:p.Arg240Gln		105158022	NM_006825	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743343	0.89663	.	.	ENSG00000136026	ENST00000378026	D	0.82081	-1.57	5.8	5.8	0.92144	.	0.047762	0.85682	D	0.000000	D	0.89223	0.6654	M	0.74258	2.255	0.43183	D	0.995002	D	0.89917	1.0	D	0.75020	0.985	D	0.86144	0.1583	10	0.21014	T	0.42	-38.6461	13.2846	0.60235	0.0:0.9281:0.0:0.0719	.	240	Q07065	CKAP4_HUMAN	Q	240	ENSP00000367265:R240Q	ENSP00000367265:R240Q	R	-	2	0	CKAP4	105158022	0.933000	0.31639	0.699000	0.30290	0.864000	0.49448	4.336000	0.59304	2.758000	0.94735	0.563000	0.77884	CGG		0.542	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1		
SSH1	54434	broad.mit.edu	37	12	109198940	109198940	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:109198940T>C	ENST00000326495.5	-	10	939	c.846A>G	c.(844-846)aaA>aaG	p.K282K	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Silent_p.K282K|SSH1_ENST00000326470.5_Silent_p.K293K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	282					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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.K282K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AATTCATCTGTTTCTCTAATT	0.348																																					p.K293K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A879G	12						.						118.0	109.0	112.0					12																	109198940		2203	4300	6503	107723069	SO:0001819	synonymous_variant	54434	exon9			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.846A>G	12.37:g.109198940T>C			107723069	NM_001161331	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	CCDS9121.1																																																																																				0.348	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
ACACB	32	broad.mit.edu	37	12	109577521	109577521	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:109577521T>G	ENST00000338432.7	+	2	430	c.311T>G	c.(310-312)cTt>cGt	p.L104R	ACACB_ENST00000377848.3_Missense_Mutation_p.L104R|ACACB_ENST00000377854.5_Missense_Mutation_p.L104R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	104					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L104R(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGAAACCCCCTTTCTTCCAGT	0.632																																					p.L104R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T311G	12						.						93.0	101.0	98.0					12																	109577521		2203	4300	6503	108061904	SO:0001583	missense	32	exon1			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.311T>G	12.37:g.109577521T>G	ENSP00000341044:p.Leu104Arg		108061904	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717722	0.30413	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.4	-6.04	0.02178	.	1.560540	0.03777	N	0.260786	T	0.39911	0.1096	L	0.44542	1.39	0.09310	N	1	B	0.19583	0.037	B	0.17979	0.02	T	0.21655	-1.0239	10	0.34782	T	0.22	.	6.1459	0.20285	0.1258:0.5845:0.1274:0.1623	.	104	O00763	ACACB_HUMAN	R	104;79;104;104	ENSP00000341044:L104R;ENSP00000443494:L79R;ENSP00000367079:L104R;ENSP00000367085:L104R	ENSP00000341044:L104R	L	+	2	0	ACACB	108061904	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.501000	0.06398	-1.191000	0.02695	-0.993000	0.02533	CTT		0.632	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
RPH3A	22895	broad.mit.edu	37	12	113332441	113332441	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:113332441A>C	ENST00000389385.4	+	20	2331	c.1834A>C	c.(1834-1836)Acc>Ccc	p.T612P	RPH3A_ENST00000415485.3_Missense_Mutation_p.T612P|RPH3A_ENST00000543106.2_Missense_Mutation_p.T612P|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.T563P|RPH3A_ENST00000447659.2_Missense_Mutation_p.T563P|RPH3A_ENST00000551052.1_Missense_Mutation_p.T608P|RPH3A_ENST00000420983.2_Missense_Mutation_p.T612P	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	612	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.T608P(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TAAAAAGAAAACCTTGAATCC	0.433																																					p.T608P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1822C	12						.						77.0	71.0	73.0					12																	113332441		2203	4300	6503	111816824	SO:0001583	missense	22895	exon19			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1834A>C	12.37:g.113332441A>C	ENSP00000374036:p.Thr612Pro		111816824	NM_014954	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158418	0.78114	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.42	5.42	0.78866	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	D	0.90170	0.6928	H	0.98664	4.295	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.997;0.995	D	0.93726	0.7037	10	0.87932	D	0	.	14.4517	0.67389	1.0:0.0:0.0:0.0	.	563;612;612;608	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	P	612;612;563;608;612;563;612;264	ENSP00000440384:T612P;ENSP00000374036:T612P;ENSP00000413254:T563P;ENSP00000448297:T608P;ENSP00000405357:T612P;ENSP00000450347:T563P;ENSP00000408889:T612P	ENSP00000374036:T612P	T	+	1	0	RPH3A	111816824	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.962000	0.93254	2.059000	0.61396	0.477000	0.44152	ACC		0.433	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
OAS2	4939	broad.mit.edu	37	12	113445685	113445685	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:113445685T>A	ENST00000342315.4	+	9	2046	c.1832T>A	c.(1831-1833)gTc>gAc	p.V611D	OAS2_ENST00000392583.2_Missense_Mutation_p.V611D|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	611	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.V611D(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCTGGAAGGTCAATTACAAC	0.502																																					p.V611D	Pancreas(199;709 2232 18410 33584 35052)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1832A	12						.						153.0	145.0	147.0					12																	113445685		2203	4300	6503	111930068	SO:0001583	missense	4939	exon9			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1832T>A	12.37:g.113445685T>A	ENSP00000342278:p.Val611Asp		111930068	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.009696	0.35415	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.44881	0.91;0.91	4.14	2.97	0.34412	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.56775	0.2008	M	0.66939	2.045	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.54629	-0.8265	9	0.59425	D	0.04	-26.1615	6.6742	0.23085	0.2107:0.0:0.0:0.7893	.	611;611	P29728;P29728-2	OAS2_HUMAN;.	D	611	ENSP00000342278:V611D;ENSP00000376362:V611D	ENSP00000342278:V611D	V	+	2	0	OAS2	111930068	0.235000	0.23794	0.523000	0.27875	0.185000	0.23345	0.637000	0.24659	0.616000	0.30141	0.533000	0.62120	GTC		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
DDX54	79039	broad.mit.edu	37	12	113617091	113617091	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:113617091G>A	ENST00000306014.5	-	4	448	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	DDX54_ENST00000314045.7_Missense_Mutation_p.R141W|Y_RNA_ENST00000364338.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	141	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.R141W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTGCCCGTCCGGGCCATGGCC	0.637																																					p.R141W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C421T	12						.						43.0	40.0	41.0					12																	113617091		2203	4300	6503	112101474	SO:0001583	missense	79039	exon4			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.421C>T	12.37:g.113617091G>A	ENSP00000304072:p.Arg141Trp		112101474	NM_024072	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930032	0.73327	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.44083	0.93;0.93;0.93	5.48	4.53	0.55603	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74269	-0.3720	10	0.87932	D	0	.	12.7703	0.57417	0.0:0.0:0.6744:0.3256	.	141;141	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	W	141;141;58	ENSP00000323858:R141W;ENSP00000304072:R141W;ENSP00000448477:R58W	ENSP00000304072:R141W	R	-	1	2	DDX54	112101474	0.983000	0.35010	0.999000	0.59377	0.955000	0.61496	1.906000	0.39887	2.573000	0.86826	0.462000	0.41574	CGG		0.637	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072	
TBX5	6910	broad.mit.edu	37	12	114793779	114793779	+	Missense_Mutation	SNP	G	G	A	rs143068551	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:114793779G>A	ENST00000310346.4	-	9	1781	c.1115C>T	c.(1114-1116)tCg>tTg	p.S372L	TBX5_ENST00000405440.2_Missense_Mutation_p.S372L|TBX5_ENST00000349716.5_Missense_Mutation_p.S322L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	372					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S372L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCGCTGTGCCGACTCTGTCCT	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		19612	0.0		0.001	False		,,,				2504	0.001				p.S372L	NSCLC(152;1358 1980 4050 23898 40356)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1115T	12						.	G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	101.0	89.0	93.0		1115,965,1115	5.3	1.0	12	dbSNP_134	93	3,8597	2.2+/-6.3	0,3,4297	no	missense,missense,missense	TBX5	NM_000192.3,NM_080717.2,NM_181486.1	145,145,145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	372/519,322/469,372/519	114793779	3,13003	2203	4300	6503	113278162	SO:0001583	missense	6910	exon9			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1115C>T	12.37:g.114793779G>A	ENSP00000309913:p.Ser372Leu		113278162	NM_000192	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.38	2.816946	0.50633	0.0	3.49E-4	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.52295	0.67;0.67;0.67	5.27	5.27	0.74061	.	0.126254	0.56097	D	0.000037	T	0.39118	0.1066	L	0.61036	1.89	0.80722	D	1	P	0.45569	0.861	B	0.28638	0.092	T	0.44982	-0.9292	10	0.11485	T	0.65	.	18.8889	0.92391	0.0:0.0:1.0:0.0	.	372	Q99593	TBX5_HUMAN	L	322;372;269;372	ENSP00000337723:S322L;ENSP00000309913:S372L;ENSP00000384152:S372L	ENSP00000309913:S372L	S	-	2	0	TBX5	113278162	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	7.540000	0.82074	2.463000	0.83235	0.655000	0.94253	TCG		0.592	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
FBXO21	23014	broad.mit.edu	37	12	117615422	117615422	+	Silent	SNP	G	G	A	rs149686869		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:117615422G>A	ENST00000330622.5	-	4	494	c.495C>T	c.(493-495)taC>taT	p.Y165Y	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Silent_p.Y165Y			O94952	FBX21_HUMAN	F-box protein 21	165					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.Y165Y(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TTTTTTTTGCGTAGTATTTCC	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16566	0.0		0.0	False		,,,				2504	0.0				p.Y165Y	GBM(168;452 2038 13535 17701 43680)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C495T	12						.	G	,	1,4405	2.1+/-5.4	0,1,2202	96.0	94.0	95.0		495,495	-8.0	0.1	12	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FBXO21	NM_015002.2,NM_033624.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	165/622,165/629	117615422	2,13004	2203	4300	6503	116099805	SO:0001819	synonymous_variant	23014	exon4			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.495C>T	12.37:g.117615422G>A			116099805	NM_015002	B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	G	5.822	0.335918	0.11013	2.27E-4	1.16E-4	ENSG00000135108	ENST00000550180	.	.	.	5.71	-7.98	0.01135	.	.	.	.	.	T	0.66858	0.2832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71974	-0.4430	4	.	.	.	-14.7377	19.9747	0.97299	0.8889:0.0:0.1111:0.0	.	.	.	.	C	109	.	.	R	-	1	0	FBXO21	116099805	0.266000	0.24112	0.143000	0.22291	0.691000	0.40173	-0.221000	0.09202	-1.683000	0.01444	-0.768000	0.03414	CGC		0.343	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624	
WSB2	55884	broad.mit.edu	37	12	118481006	118481006	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:118481006T>C	ENST00000315436.3	-	3	500	c.359A>G	c.(358-360)gAt>gGt	p.D120G	WSB2_ENST00000441406.2_Missense_Mutation_p.D137G|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.D122G|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	120					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.D120G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAAGAGACATCGGGCACTTG	0.612																																					p.D120G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A359G	12						.						102.0	98.0	99.0					12																	118481006		2203	4300	6503	116965389	SO:0001583	missense	55884	exon3			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.359A>G	12.37:g.118481006T>C	ENSP00000319474:p.Asp120Gly		116965389	NM_018639	B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	T	3.190	-0.165930	0.06461	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.62364	0.26;0.29;0.3;0.03	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.119854	0.53938	D	0.000045	T	0.38799	0.1054	N	0.13098	0.295	0.34783	D	0.734943	B	0.02656	0.0	B	0.04013	0.001	T	0.42949	-0.9421	10	0.08381	T	0.77	-16.5432	9.0757	0.36519	0.0:0.0852:0.0:0.9148	.	120	Q9NYS7	WSB2_HUMAN	G	120;137;122;122	ENSP00000319474:D120G;ENSP00000409131:D137G;ENSP00000439450:D122G;ENSP00000440386:D122G	ENSP00000319474:D120G	D	-	2	0	WSB2	116965389	0.440000	0.25618	0.986000	0.45419	0.981000	0.71138	2.465000	0.45075	2.137000	0.66172	0.529000	0.55759	GAT		0.612	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639	
CCDC60	160777	broad.mit.edu	37	12	119966467	119966467	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:119966467T>A	ENST00000327554.2	+	12	1742	c.1277T>A	c.(1276-1278)gTc>gAc	p.V426D	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	426								p.V426D(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTGTCCTTGTCTCAAATTTT	0.403																																					p.V426D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1277A	12						.						169.0	158.0	162.0					12																	119966467		2203	4300	6503	118450850	SO:0001583	missense	160777	exon12			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1277T>A	12.37:g.119966467T>A	ENSP00000333374:p.Val426Asp		118450850	NM_178499		Missense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.867680	0.32977	.	.	ENSG00000183273	ENST00000327554	T	0.24908	1.83	5.42	0.625	0.17665	.	0.830271	0.10384	N	0.681158	T	0.29882	0.0747	L	0.51422	1.61	0.33158	D	0.546593	D	0.53462	0.96	P	0.51229	0.663	T	0.45804	-0.9236	9	.	.	.	-20.563	7.1044	0.25356	0.0:0.365:0.0:0.635	.	426	Q8IWA6	CCD60_HUMAN	D	426	ENSP00000333374:V426D	.	V	+	2	0	CCDC60	118450850	0.024000	0.19004	0.804000	0.32291	0.158000	0.22134	-0.052000	0.11865	0.390000	0.25115	0.524000	0.50904	GTC		0.403	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
CIT	11113	broad.mit.edu	37	12	120151339	120151339	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:120151339G>A	ENST00000261833.7	-	33	4347	c.4295C>T	c.(4294-4296)tCc>tTc	p.S1432F	MIR1178_ENST00000408396.1_RNA|CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.S1474F	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1432					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.S1432F(1)|p.S1460F(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)		GAGACCTGGGGAGTTCATTTT	0.602																																					p.S1432F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4295T	12						.						75.0	64.0	68.0					12																	120151339		2203	4300	6503	118635722	SO:0001583	missense	11113	exon33			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.4295C>T	12.37:g.120151339G>A	ENSP00000261833:p.Ser1432Phe		118635722	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064462|5.064462	0.93898|0.93898	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.66815	.|-0.21;-0.23	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78547|0.78547	0.4300|0.4300	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.67145	.|0.996;0.996;0.911	.|P;P;P	.|0.59171	.|0.853;0.853;0.461	T|T	0.78661|0.78661	-0.2117|-0.2117	5|10	.|0.87932	.|D	.|0	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1474;1432;950	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	S|F	1045|1474;1432	.|ENSP00000376306:S1474F;ENSP00000261833:S1432F	.|ENSP00000261833:S1432F	P|S	-|-	1|2	0|0	CIT|CIT	118635722|118635722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.605000|9.605000	0.98321|0.98321	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.602	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
GCN1L1	10985	broad.mit.edu	37	12	120576636	120576636	+	Missense_Mutation	SNP	C	C	T	rs536175743		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:120576636C>T	ENST00000300648.6	-	46	6031	c.6019G>A	c.(6019-6021)Gtg>Atg	p.V2007M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2007					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.V2007M(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)					GCCGTGGGCACGAGGGATTCA	0.557																																					p.V2007M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6019A	12						.						141.0	147.0	145.0					12																	120576636		2124	4236	6360	119061019	SO:0001583	missense	10985	exon46			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.6019G>A	12.37:g.120576636C>T	ENSP00000300648:p.Val2007Met		119061019	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930783	0.92389	.	.	ENSG00000089154	ENST00000300648	T	0.66638	-0.22	5.94	5.94	0.96194	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87167	0.2218	10	0.87932	D	0	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	2007	Q92616	GCN1L_HUMAN	M	2007	ENSP00000300648:V2007M	ENSP00000300648:V2007M	V	-	1	0	GCN1L1	119061019	1.000000	0.71417	0.970000	0.41538	0.798000	0.45092	5.488000	0.66869	2.820000	0.97059	0.650000	0.86243	GTG		0.557	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
WDR66	144406	broad.mit.edu	37	12	122398561	122398561	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:122398561C>T	ENST00000288912.4	+	14	3058	c.2204C>T	c.(2203-2205)gCa>gTa	p.A735V	WDR66_ENST00000397454.2_Missense_Mutation_p.A735V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	735							calcium ion binding (GO:0005509)	p.A735V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GAGTACTTAGCAAGACTTCGC	0.483																																					p.A735V	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2204T	12						.						153.0	149.0	150.0					12																	122398561		1945	4155	6100	120882944	SO:0001583	missense	144406	exon14			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2204C>T	12.37:g.122398561C>T	ENSP00000288912:p.Ala735Val		120882944	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391419	0.83011	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.55760	0.5;1.24	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.124948	0.53938	D	0.000052	T	0.66742	0.2820	M	0.62723	1.935	0.40081	D	0.976134	D	0.69078	0.997	D	0.64144	0.922	T	0.71101	-0.4690	10	0.72032	D	0.01	.	13.6068	0.62052	0.0:0.8441:0.1559:0.0	.	735	Q8TBY9	WDR66_HUMAN	V	735	ENSP00000288912:A735V;ENSP00000380595:A735V	ENSP00000288912:A735V	A	+	2	0	WDR66	120882944	1.000000	0.71417	0.337000	0.25536	0.978000	0.69477	5.099000	0.64554	2.382000	0.81193	0.655000	0.94253	GCA		0.483	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
IL31	386653	broad.mit.edu	37	12	122658491	122658491	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:122658491A>G	ENST00000377035.1	-	2	91	c.65T>C	c.(64-66)cTg>cCg	p.L22P		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	22					immune system process (GO:0002376)	extracellular space (GO:0005615)		p.L22P(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GTGGGAGGCCAGCCAGCCTCC	0.547																																					p.L22P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T65C	12						.						81.0	77.0	78.0					12																	122658491		2203	4300	6503	121224444	SO:0001583	missense	386653	exon2			AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.65T>C	12.37:g.122658491A>G	ENSP00000366234:p.Leu22Pro		121224444	NM_001014336	A2RUQ1	Missense_Mutation	SNP	ENST00000377035.1	37	CCDS31919.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637153	0.47049	.	.	ENSG00000204671	ENST00000377035	.	.	.	4.73	2.28	0.28536	.	0.995270	0.08134	N	0.992665	T	0.44074	0.1276	L	0.29908	0.895	0.18873	N	0.999984	D	0.89917	1.0	D	0.76575	0.988	T	0.25572	-1.0128	9	0.87932	D	0	-5.5109	4.2785	0.10820	0.7256:0.0:0.0984:0.1759	.	22	Q6EBC2	IL31_HUMAN	P	22	.	ENSP00000366234:L22P	L	-	2	0	IL31	121224444	0.000000	0.05858	0.005000	0.12908	0.070000	0.16714	0.555000	0.23422	0.352000	0.24053	0.460000	0.39030	CTG		0.547	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336	
TMED2	10959	broad.mit.edu	37	12	124071412	124071412	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:124071412C>T	ENST00000262225.3	+	2	405	c.299C>T	c.(298-300)aCc>aTc	p.T100I	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_Missense_Mutation_p.T15I	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	100	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)		p.T100I(1)		kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CGGATGTCCACCATGACTCCA	0.388																																					p.T100I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299T	12						.						90.0	82.0	85.0					12																	124071412		2203	4300	6503	122637365	SO:0001583	missense	10959	exon2			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.299C>T	12.37:g.124071412C>T	ENSP00000262225:p.Thr100Ile		122637365	NM_006815		Missense_Mutation	SNP	ENST00000262225.3	37	CCDS9250.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993029	0.93167	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000432022;ENST00000509052	T;T;T	0.19105	2.17;2.17;2.17	4.82	4.82	0.62117	GOLD (3);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.70443	-0.4870	10	0.22109	T	0.4	-9.785	18.268	0.90057	0.0:1.0:0.0:0.0	.	100	Q15363	TMED2_HUMAN	I	100;100;68;15	ENSP00000262225:T100I;ENSP00000405845:T100I;ENSP00000441161:T15I	ENSP00000262225:T100I	T	+	2	0	TMED2	122637365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.751000	0.85126	2.389000	0.81357	0.555000	0.69702	ACC		0.388	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815	
GTF2H3	2967	broad.mit.edu	37	12	124144076	124144076	+	Missense_Mutation	SNP	C	C	T	rs146276537		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:124144076C>T	ENST00000543341.2	+	10	660	c.629C>T	c.(628-630)aCg>aTg	p.T210M	GTF2H3_ENST00000228955.7_Missense_Mutation_p.T169M	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	210					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)	p.T210M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TGTGACATCACGGGAGGACTG	0.557								Nucleotide excision repair (NER)					C|||	1	0.000199681	0.0	0.0	5008	,	,		14701	0.001		0.0	False		,,,				2504	0.0				p.T210M	Melanoma(176;111 2022 3038 14733 36962)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629T	12						.	C	MET/THR	0,4406		0,0,2203	113.0	84.0	94.0		629	5.3	1.0	12	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GTF2H3	NM_001516.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	210/309	124144076	2,13004	2203	4300	6503	122710029	SO:0001583	missense	2967	exon10			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.629C>T	12.37:g.124144076C>T	ENSP00000445162:p.Thr210Met		122710029	NM_001516	B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689878	0.88735	0.0	2.33E-4	ENSG00000111358	ENST00000228955;ENST00000543341;ENST00000536375;ENST00000542231;ENST00000543154	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90506	0.4477	9	0.87932	D	0	.	17.1508	0.86777	0.0:1.0:0.0:0.0	.	210	Q13889	TF2H3_HUMAN	M	169;210;167;160;96	.	ENSP00000228955:T169M	T	+	2	0	GTF2H3	122710029	1.000000	0.71417	0.983000	0.44433	0.968000	0.65278	7.548000	0.82154	2.499000	0.84300	0.585000	0.79938	ACG		0.557	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516	
DNAH10	196385	broad.mit.edu	37	12	124289380	124289380	+	Splice_Site	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:124289380G>A	ENST00000409039.3	+	17	2451	c.2426G>A	c.(2425-2427)gGc>gAc	p.G809D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	809	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G809D(1)|p.G627A(1)|p.G809A(1)|p.G627D(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)		TTCTCTCCAGGCGTGAAGGAA	0.478																																					p.G809D												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G2426A	12						.						111.0	114.0	113.0					12																	124289380		2203	4300	6503	122855333	SO:0001630	splice_region_variant	196385	exon17			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.2426-1G>A	12.37:g.124289380G>A			122855333	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	1.839	-0.467964	0.04476	.	.	ENSG00000197653	ENST00000409039	T	0.20598	2.06	5.56	5.56	0.83823	.	0.200709	0.28706	U	0.014403	T	0.12220	0.0297	N	0.10874	0.06	0.48395	D	0.999642	B;B;B	0.17852	0.024;0.001;0.0	B;B;B	0.18561	0.022;0.003;0.001	T	0.18681	-1.0329	9	.	.	.	.	14.7651	0.69632	0.0713:0.0:0.9287:0.0	.	809;684;809	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	D	809	ENSP00000386770:G809D	.	G	+	2	0	DNAH10	122855333	1.000000	0.71417	0.486000	0.27416	0.065000	0.16274	3.380000	0.52448	2.621000	0.88768	0.643000	0.83706	GGC		0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation
TMEM132B	114795	broad.mit.edu	37	12	125834253	125834253	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:125834253T>C	ENST00000299308.3	+	2	316	c.308T>C	c.(307-309)tTg>tCg	p.L103S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	103						integral component of membrane (GO:0016021)		p.L103S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGCTCCTGTTGACATCTACA	0.478																																					p.L103S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T308C	12						.						112.0	110.0	110.0					12																	125834253		1891	4116	6007	124400206	SO:0001583	missense	114795	exon2			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.308T>C	12.37:g.125834253T>C	ENSP00000299308:p.Leu103Ser		124400206	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	7.139	0.581375	0.13686	.	.	ENSG00000139364	ENST00000299308	T	0.13089	2.62	5.41	4.27	0.50696	.	.	.	.	.	T	0.11922	0.0290	L	0.43923	1.385	0.80722	D	1	P	0.35272	0.493	B	0.36186	0.219	T	0.11060	-1.0603	9	0.35671	T	0.21	.	6.9319	0.24445	0.1332:0.0727:0.0:0.7941	.	103	Q14DG7	T132B_HUMAN	S	103	ENSP00000299308:L103S	ENSP00000299308:L103S	L	+	2	0	TMEM132B	124400206	1.000000	0.71417	0.015000	0.15790	0.051000	0.14879	3.103000	0.50298	0.889000	0.36185	0.482000	0.46254	TTG		0.478	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
SLC15A4	121260	broad.mit.edu	37	12	129294561	129294561	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:129294561T>C	ENST00000266771.5	-	3	977	c.938A>G	c.(937-939)gAa>gGa	p.E313G	SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	313					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.E313G(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTTCACATCTTCCACTTTCTC	0.398																																					p.E313G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A938G	12						.						151.0	138.0	143.0					12																	129294561		2203	4300	6503	127860514	SO:0001583	missense	121260	exon3			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.938A>G	12.37:g.129294561T>C	ENSP00000266771:p.Glu313Gly		127860514	NM_145648	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497040	0.85069	.	.	ENSG00000139370	ENST00000266771;ENST00000376740	T;T	0.04406	3.63;3.63	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);	0.143346	0.64402	D	0.000008	T	0.25044	0.0608	M	0.90082	3.085	0.80722	D	1	D	0.56287	0.975	P	0.61070	0.883	T	0.07501	-1.0769	10	0.87932	D	0	.	15.4522	0.75282	0.0:0.0:0.0:1.0	.	313	Q8N697	S15A4_HUMAN	G	313;13	ENSP00000266771:E313G;ENSP00000365930:E13G	ENSP00000266771:E313G	E	-	2	0	SLC15A4	127860514	1.000000	0.71417	0.923000	0.36655	0.998000	0.95712	7.023000	0.76437	2.096000	0.63516	0.533000	0.62120	GAA		0.398	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648	
TMEM132D	121256	broad.mit.edu	37	12	129558445	129558445	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:129558445A>G	ENST00000422113.2	-	9	3601	c.3275T>C	c.(3274-3276)aTg>aCg	p.M1092T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M630T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1092					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.M1092T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAACCTCTCCATGTAGTTGTG	0.507																																					p.M1092T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3275C	12						.						197.0	165.0	175.0					12																	129558445		2203	4300	6503	128124398	SO:0001583	missense	121256	exon9			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3275T>C	12.37:g.129558445A>G	ENSP00000408581:p.Met1092Thr		128124398	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991428	0.54041	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15139	2.45;3.16	4.44	-5.12	0.02893	.	0.299361	0.32015	N	0.006720	T	0.22044	0.0531	M	0.80616	2.505	0.42617	D	0.993334	B;P	0.40834	0.029;0.73	B;P	0.47786	0.013;0.557	T	0.06267	-1.0836	9	.	.	.	-17.9661	5.5823	0.17256	0.4719:0.2458:0.2823:0.0	.	1092;630	Q14C87;Q14C87-2	T132D_HUMAN;.	T	630;1092	ENSP00000374092:M630T;ENSP00000408581:M1092T	.	M	-	2	0	TMEM132D	128124398	1.000000	0.71417	0.000000	0.03702	0.036000	0.12997	2.396000	0.44468	-1.263000	0.02455	0.460000	0.39030	ATG		0.507	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TMEM132D	121256	broad.mit.edu	37	12	130387855	130387855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:130387855C>T	ENST00000422113.2	-	1	356	c.30G>A	c.(28-30)tgG>tgA	p.W10*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	10					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.W10*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCAGTGGTGCCACAGCGTCC	0.677																																					p.W10X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G30A	12						.						30.0	29.0	29.0					12																	130387855		2137	4147	6284	128953808	SO:0001587	stop_gained	121256	exon1			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.30G>A	12.37:g.130387855C>T	ENSP00000408581:p.Trp10*		128953808	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	42	9.642046	0.99227	.	.	ENSG00000151952	ENST00000422113	.	.	.	5.2	5.2	0.72013	.	0.579367	0.15570	N	0.255483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9801	14.2204	0.65823	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	.	W	-	3	0	TMEM132D	128953808	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	3.881000	0.56152	2.402000	0.81655	0.591000	0.81541	TGG		0.677	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
SFSWAP	6433	broad.mit.edu	37	12	132250714	132250714	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:132250714C>T	ENST00000261674.4	+	13	2144	c.2003C>T	c.(2002-2004)gCc>gTc	p.A668V	SFSWAP_ENST00000541286.1_Missense_Mutation_p.A668V	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	668					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.A668V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GAAAAGCTGGCCCAGGCGTCT	0.448																																					p.A668V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2003T	12						.						105.0	120.0	115.0					12																	132250714		2203	4300	6503	130816667	SO:0001583	missense	6433	exon13			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.2003C>T	12.37:g.132250714C>T	ENSP00000261674:p.Ala668Val		130816667	NM_004592	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.614949|4.614949	0.87359|0.87359	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286|ENST00000537164	T;T;T|.	0.27720|.	2.64;1.65;2.63|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74619|0.74619	0.3740|0.3740	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.85130|.	0.997;0.994|.	T|T	0.71182|0.71182	-0.4668|-0.4668	10|5	0.39692|.	T|.	0.17|.	-25.7422|-25.7422	19.8928|19.8928	0.96935|0.96935	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	668;668|.	F5H6B8;Q12872|.	.;SFSWA_HUMAN|.	V|S	668;461;668|231	ENSP00000261674:A668V;ENSP00000443045:A461V;ENSP00000437738:A668V|.	ENSP00000261674:A668V|.	A|P	+|+	2|1	0|0	SFSWAP|SFSWAP	130816667|130816667	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.975000|0.975000	0.68041|0.68041	7.365000|7.365000	0.79537|0.79537	2.713000|2.713000	0.92767|0.92767	0.591000|0.591000	0.81541|0.81541	GCC|CCC		0.448	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	
MMP17	4326	broad.mit.edu	37	12	132326242	132326242	+	Silent	SNP	C	C	T	rs17854024	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:132326242C>T	ENST00000360564.1	+	5	882	c.780C>T	c.(778-780)gcC>gcT	p.A260A	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Silent_p.A176A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	260					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S260S(1)|p.A260A(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GCCATGTGGCCGCTGCACACT	0.637													C|||	6	0.00119808	0.0	0.0014	5008	,	,		17430	0.0		0.004	False		,,,				2504	0.001				p.A260A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C780T	12						.	C		7,4399	12.9+/-30.5	0,7,2196	110.0	92.0	98.0		780	-8.3	0.0	12	dbSNP_123	98	30,8570	20.4+/-63.3	0,30,4270	no	coding-synonymous	MMP17	NM_016155.4		0,37,6466	TT,TC,CC		0.3488,0.1589,0.2845		260/604	132326242	37,12969	2203	4300	6503	130892195	SO:0001819	synonymous_variant	4326	exon5			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.780C>T	12.37:g.132326242C>T			130892195	NM_016155	Q14850	Silent	SNP	ENST00000360564.1	37	CCDS31927.1																																																																																				0.637	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155	
POLE	5426	broad.mit.edu	37	12	133220452	133220452	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:133220452G>A	ENST00000320574.5	-	33	4304	c.4261C>T	c.(4261-4263)Cca>Tca	p.P1421S	POLE_ENST00000535270.1_Missense_Mutation_p.P1394S|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1421			P -> S. {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P1421S(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCGATGTCTGGCGCTGACAGC	0.552								DNA polymerases (catalytic subunits)																													p.P1421S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4261T	12						.						190.0	159.0	169.0					12																	133220452		2203	4300	6503	131730525	SO:0001583	missense	5426	exon33				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4261C>T	12.37:g.133220452G>A	ENSP00000322570:p.Pro1421Ser		131730525	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429045	0.62844	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.19938	2.11;2.11;2.11	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.76838	2.35	0.80722	D	1	D;P	0.55172	0.97;0.949	P;P	0.55577	0.779;0.607	T	0.17653	-1.0362	10	0.42905	T	0.14	-6.0E-4	18.2918	0.90133	0.0:0.0:1.0:0.0	.	1394;1421	F5H1D6;Q07864	.;DPOE1_HUMAN	S	1421;1432;1394	ENSP00000322570:P1421S;ENSP00000406383:P1432S;ENSP00000445753:P1394S	ENSP00000322570:P1421S	P	-	1	0	POLE	131730525	1.000000	0.71417	0.645000	0.29479	0.511000	0.34104	9.603000	0.98315	2.833000	0.97629	0.650000	0.86243	CCA		0.552	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
ANKLE2	23141	broad.mit.edu	37	12	133312086	133312086	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:133312086G>A	ENST00000357997.5	-	9	1695	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R474C|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R536C|ANKLE2_ENST00000542374.1_5'Flank	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	536					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.R536C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CAGAGCTTGCGAAAATCTTCT	0.522																																					p.R536C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1606T	12						.						103.0	105.0	104.0					12																	133312086		1951	4153	6104	131822159	SO:0001583	missense	23141	exon9			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1606C>T	12.37:g.133312086G>A	ENSP00000350686:p.Arg536Cys		131822159	NM_015114	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	19.75	3.886510	0.72410	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.24	5.24	0.73138	.	0.052453	0.85682	D	0.000000	T	0.64940	0.2644	L	0.49350	1.555	0.80722	D	1	D;P	0.89917	1.0;0.625	D;B	0.67103	0.949;0.105	T	0.64198	-0.6464	10	0.48119	T	0.1	-19.275	14.0681	0.64844	0.0:0.0:0.8491:0.1508	.	536;536	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	C	474;536;536;99	ENSP00000446268:R474C;ENSP00000350686:R536C;ENSP00000337651:R536C;ENSP00000437585:R99C	ENSP00000337651:R536C	R	-	1	0	ANKLE2	131822159	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.034000	0.76511	2.586000	0.87340	0.655000	0.94253	CGC		0.522	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1		
ADIPOR2	79602	broad.mit.edu	37	12	1889742	1889742	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:1889742T>C	ENST00000357103.4	+	5	840	c.589T>C	c.(589-591)Ttt>Ctt	p.F197L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	197					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.F197L(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CTGCCTTTCTTTTTCATGGCT	0.433																																					p.F197L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T589C	12						.						156.0	156.0	156.0					12																	1889742		2203	4300	6503	1760003	SO:0001583	missense	79602	exon5			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.589T>C	12.37:g.1889742T>C	ENSP00000349616:p.Phe197Leu		1760003	NM_024551	Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120001	0.77323	.	.	ENSG00000006831	ENST00000357103	T	0.27402	1.67	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	N	0.17345	0.48	0.80722	D	1	P	0.35700	0.516	B	0.38194	0.267	T	0.07139	-1.0788	10	0.15499	T	0.54	-17.0231	16.255	0.82510	0.0:0.0:0.0:1.0	.	197	Q86V24	ADR2_HUMAN	L	197	ENSP00000349616:F197L	ENSP00000349616:F197L	F	+	1	0	ADIPOR2	1760003	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.040000	0.89188	2.240000	0.73641	0.533000	0.62120	TTT		0.433	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551	
FOXM1	2305	broad.mit.edu	37	12	2977834	2977834	+	Silent	SNP	G	G	A	rs377374386		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:2977834G>A	ENST00000359843.3	-	4	809	c.741C>T	c.(739-741)ttC>ttT	p.F247F	FOXM1_ENST00000361953.3_Silent_p.F247F|FOXM1_ENST00000342628.2_Silent_p.F247F|FOXM1_ENST00000537018.1_5'UTR	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	247					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F247F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGTTGATGGCGAATTGTATCA	0.507																																					p.F247F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	12						.						218.0	178.0	192.0					12																	2977834		2203	4300	6503	2848095	SO:0001819	synonymous_variant	2305	exon4			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.741C>T	12.37:g.2977834G>A			2848095	NM_202003	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																				0.507	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
PRMT8	56341	broad.mit.edu	37	12	3659226	3659226	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:3659226C>A	ENST00000382622.3	+	3	776	c.386C>A	c.(385-387)gCt>gAt	p.A129D	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.A120D	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	129	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.A129D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCCATGTTCGCTGCCAAGGCA	0.577																																					p.A129D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386A	12						.						175.0	146.0	156.0					12																	3659226		2203	4300	6503	3529487	SO:0001583	missense	56341	exon3			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.386C>A	12.37:g.3659226C>A	ENSP00000372067:p.Ala129Asp		3529487	NM_019854	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153242	0.78114	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30448	1.53;1.53	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.86902	0.2055	10	0.87932	D	0	.	17.516	0.87773	0.0:1.0:0.0:0.0	.	120;129	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	D	120;129	ENSP00000414507:A120D;ENSP00000372067:A129D	ENSP00000372067:A129D	A	+	2	0	PRMT8	3529487	1.000000	0.71417	0.991000	0.47740	0.294000	0.27393	7.776000	0.85560	2.726000	0.93360	0.655000	0.94253	GCT		0.577	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
GALNT8	26290	broad.mit.edu	37	12	4835957	4835957	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:4835957G>A	ENST00000252318.2	+	2	808	c.471G>A	c.(469-471)ctG>ctA	p.L157L	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	157					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L157L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCAACCAGCTGCCTCTCAATC	0.562																																					p.L157L	Colon(108;631 1558 7270 20097 39846)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G471A	12						.						77.0	70.0	72.0					12																	4835957		2203	4300	6503	4706218	SO:0001819	synonymous_variant	26290	exon2			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.471G>A	12.37:g.4835957G>A			4706218	NM_017417	B2RU02	Silent	SNP	ENST00000252318.2	37	CCDS8533.1																																																																																				0.562	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417	
ANO2	57101	broad.mit.edu	37	12	5724462	5724462	+	Splice_Site	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:5724462C>T	ENST00000356134.5	-	19	1892	c.1821G>A	c.(1819-1821)gaG>gaA	p.E607E	ANO2_ENST00000327087.8_Splice_Site_p.E606E|ANO2_ENST00000546188.1_Splice_Site_p.E607E	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	611					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E607E(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTTTCGGAACCTCTGTAAGAG	0.463																																					p.E606E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1818A	12						.						53.0	55.0	55.0					12																	5724462		2023	4207	6230	5594723	SO:0001630	splice_region_variant	57101	exon18			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1820-1G>A	12.37:g.5724462C>T			5594723	NM_020373	C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37																																																																																					0.463	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Silent
TNFRSF1A	7132	broad.mit.edu	37	12	6442255	6442255	+	Silent	SNP	G	G	A	rs138918985	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:6442255G>A	ENST00000162749.2	-	5	830	c.531C>T	c.(529-531)aaC>aaT	p.N177N	TNFRSF1A_ENST00000366159.4_Silent_p.N177N|TNFRSF1A_ENST00000540022.1_Silent_p.N134N|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	177					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.N177N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AGACACACTCGTTTTCTCTTA	0.552																																					p.N177N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531T	12						.	G		2,4404	4.2+/-10.8	0,2,2201	90.0	86.0	87.0		531	-5.0	0.0	12	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous	TNFRSF1A	NM_001065.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		177/456	6442255	2,13004	2203	4300	6503	6312516	SO:0001819	synonymous_variant	7132	exon5			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.531C>T	12.37:g.6442255G>A			6312516	NM_001065	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	CCDS8542.1																																																																																				0.552	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065	
CD27	939	broad.mit.edu	37	12	6559767	6559767	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:6559767C>A	ENST00000266557.3	+	4	738	c.509C>A	c.(508-510)cCt>cAt	p.P170H	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000266556.7_5'Flank|TAPBPL_ENST00000544021.1_5'Flank|CD27_ENST00000541233.1_3'UTR	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	170					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.P170H(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						AGGCAGCTGCCTGCCCGGACT	0.582																																					p.P170H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C509A	12						.						48.0	50.0	49.0					12																	6559767		2203	4300	6503	6430028	SO:0001583	missense	939	exon4			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.509C>A	12.37:g.6559767C>A	ENSP00000266557:p.Pro170His		6430028	NM_001242	B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	37	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993306	0.54041	.	.	ENSG00000139193	ENST00000266557	D	0.94650	-3.48	2.5	2.5	0.30297	.	2569.380000	0.00166	N	0.000000	D	0.96355	0.8811	M	0.61703	1.905	0.34331	D	0.687745	D	0.76494	0.999	P	0.62813	0.907	D	0.90164	0.4230	10	0.66056	D	0.02	-10.282	8.6264	0.33892	0.0:1.0:0.0:0.0	.	170	P26842	CD27_HUMAN	H	170	ENSP00000266557:P170H	ENSP00000266557:P170H	P	+	2	0	CD27	6430028	0.014000	0.17966	0.839000	0.33178	0.095000	0.18619	2.856000	0.48341	1.715000	0.51383	0.462000	0.41574	CCT		0.582	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1		
GNB3	2784	broad.mit.edu	37	12	6952178	6952178	+	Silent	SNP	G	G	A	rs149095347	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:6952178G>A	ENST00000229264.3	+	5	546	c.141G>A	c.(139-141)acG>acA	p.T47T	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Silent_p.T47T	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	47					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.T47T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						AGATGCGGACGCGGCGGACGT	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.T47T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G141A	12						.	G		5,4401	8.1+/-20.4	0,5,2198	108.0	90.0	96.0		141	-6.4	0.9	12	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GNB3	NM_002075.2		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		47/341	6952178	6,13000	2203	4300	6503	6822439	SO:0001819	synonymous_variant	2784	exon5				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.141G>A	12.37:g.6952178G>A			6822439	NM_002075	Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	CCDS8564.1																																																																																				0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
CLSTN3	9746	broad.mit.edu	37	12	7295478	7295478	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:7295478G>A	ENST00000266546.6	+	11	2004	c.1554G>A	c.(1552-1554)tcG>tcA	p.S518S	CLSTN3_ENST00000537408.1_Silent_p.S530S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	518					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S518S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCTTTGTCGATCCACCACT	0.577											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S518S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.G1554A	12						.						122.0	93.0	103.0					12																	7295478		2203	4300	6503	7186745	SO:0001819	synonymous_variant	9746	exon11			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1554G>A	12.37:g.7295478G>A		640	7186745	NM_014718	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	CCDS8575.1																																																																																				0.577	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
PHC1	1911	broad.mit.edu	37	12	9070288	9070288	+	Silent	SNP	C	C	T	rs201332046		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:9070288C>T	ENST00000543824.1	+	3	347	c.15C>T	c.(13-15)agC>agT	p.S5S	PHC1_ENST00000433083.2_Silent_p.S5S|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.S5S|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	5					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S5S(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AGACTGAGAGCGAGCAGAACT	0.502																																					p.S5S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15T	12						.	C		1,4405	2.1+/-5.4	0,1,2202	40.0	34.0	36.0		15	-3.2	1.0	12		36	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	PHC1	NM_004426.2		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		5/1005	9070288	5,13001	2203	4300	6503	8961555	SO:0001819	synonymous_variant	1911	exon2			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.15C>T	12.37:g.9070288C>T			8961555	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	CCDS8597.1																																																																																				0.502	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
PTPRO	5800	broad.mit.edu	37	12	15739940	15739940	+	Missense_Mutation	SNP	G	G	A	rs140030653		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:15739940G>A	ENST00000281171.4	+	24	3695	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	PTPRO_ENST00000544244.1_Missense_Mutation_p.R283Q|PTPRO_ENST00000442921.2_Missense_Mutation_p.R311Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.R283Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.R1094Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.R311Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1122	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.R1122Q(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CACATGGTCCGACAGCAAGCT	0.443																																					p.R1094Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3281A	12						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	150.0	122.0	132.0		3281,3365,848,932,848,932	5.1	1.0	12	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	43,43,43,43,43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1094/1189,1122/1217,283/378,311/406,283/378,311/406	15739940	2,13004	2203	4300	6503	15631207	SO:0001583	missense	5800	exon23			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3365G>A	12.37:g.15739940G>A	ENSP00000281171:p.Arg1122Gln		15631207	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579794	0.96565	4.54E-4	0.0	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.07	5.07	0.68467	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.42053	D	0.000770	D	0.91355	0.7273	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.997	D	0.92221	0.5784	10	0.87932	D	0	.	18.6382	0.91385	0.0:0.0:1.0:0.0	.	283;1094;1122	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	Q	1122;1094;311;283;311;283;101	ENSP00000281171:R1122Q;ENSP00000343434:R1094Q;ENSP00000404188:R311Q;ENSP00000437571:R283Q;ENSP00000393449:R311Q;ENSP00000439234:R283Q;ENSP00000446201:R101Q	ENSP00000281171:R1122Q	R	+	2	0	PTPRO	15631207	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.798000	0.85924	2.623000	0.88846	0.650000	0.86243	CGA		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
SLCO1B1	10599	broad.mit.edu	37	12	21377684	21377684	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:21377684G>A	ENST00000256958.2	+	14	1872	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	592					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G592G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TATATTTTGGGGCTCTGATTG	0.383																																					p.G592G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1776A	12						.						144.0	139.0	141.0					12																	21377684		2203	4300	6503	21268951	SO:0001819	synonymous_variant	10599	exon14				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1776G>A	12.37:g.21377684G>A			21268951	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	CCDS8685.1																																																																																				0.383	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
SLCO1A2	6579	broad.mit.edu	37	12	21445159	21445159	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:21445159A>G	ENST00000307378.6	-	13	2269	c.1549T>C	c.(1549-1551)Tca>Cca	p.S517P	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S517P|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S385P|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S515P|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S385P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	517					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S517P(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CTCATCGCTGACAAGATTAGG	0.393																																					p.S517P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1549C	12						.						60.0	58.0	59.0					12																	21445159		2203	4300	6503	21336426	SO:0001583	missense	6579	exon13				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1549T>C	12.37:g.21445159A>G	ENSP00000305974:p.Ser517Pro		21336426	NM_134431	Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731968	0.30684	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;1.06	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.204155	0.44688	D	0.000430	T	0.72447	0.3461	M	0.86343	2.81	0.31155	N	0.704979	D;P	0.60160	0.987;0.956	D;D	0.65573	0.917;0.936	T	0.74639	-0.3598	10	0.33141	T	0.24	.	5.637	0.17542	0.7666:0.0:0.0814:0.1519	.	515;517	P46721-2;P46721	.;SO1A2_HUMAN	P	517;517;385;385;515	ENSP00000305974:S517P;ENSP00000393973:S517P;ENSP00000394854:S385P;ENSP00000439401:S385P;ENSP00000375088:S515P	ENSP00000305974:S517P	S	-	1	0	SLCO1A2	21336426	1.000000	0.71417	0.226000	0.23910	0.007000	0.05969	2.612000	0.46343	2.138000	0.66242	0.460000	0.39030	TCA		0.393	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	
PYROXD1	79912	broad.mit.edu	37	12	21593346	21593346	+	Silent	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:21593346T>G	ENST00000240651.9	+	2	183	c.129T>G	c.(127-129)gcT>gcG	p.A43A	PYROXD1_ENST00000545178.1_Silent_p.A43A|PYROXD1_ENST00000538582.1_5'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	43							oxidoreductase activity (GO:0016491)	p.A43A(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TGGTAACAGCTTCTCCTGTTA	0.294																																					p.A43A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T129G	12						.						60.0	67.0	64.0					12																	21593346		2202	4290	6492	21484613	SO:0001819	synonymous_variant	79912	exon2			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.129T>G	12.37:g.21593346T>G			21484613	NM_024854	A6NKI6|B3KWN8|Q9H6P1	Silent	SNP	ENST00000240651.9	37	CCDS31755.1																																																																																				0.294	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854	
LMNTD1	160492	broad.mit.edu	37	12	25699323	25699323	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:25699323C>T	ENST00000282881.6	-	3	562	c.413G>A	c.(412-414)gGc>gAc	p.G138D	IFLTD1_ENST00000539744.1_Missense_Mutation_p.G41D|IFLTD1_ENST00000413632.2_Missense_Mutation_p.G159D|IFLTD1_ENST00000445693.1_Missense_Mutation_p.G75D|IFLTD1_ENST00000458174.2_Missense_Mutation_p.G159D	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		138					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)	p.G138D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GGTAAATTGGCCAACTTCTTC	0.328																																					p.G75D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224A	12						.						89.0	89.0	89.0					12																	25699323		2203	4299	6502	25590590	SO:0001583	missense	160492	exon2																														ENST00000282881.6:c.413G>A	12.37:g.25699323C>T	ENSP00000282881:p.Gly138Asp		25590590	NM_001145727	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111067	0.37242	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.20738	2.32;2.51;2.29;2.44;2.05	4.75	3.85	0.44370	.	.	.	.	.	T	0.36717	0.0977	L	0.51422	1.61	0.22213	N	0.999284	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.932;0.986;0.994;0.995	T	0.06588	-1.0818	9	0.62326	D	0.03	-11.9644	8.1671	0.31233	0.0:0.8939:0.0:0.1061	.	75;159;159;138	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	D	138;41;159;75;159;113;113	ENSP00000282881:G138D;ENSP00000443132:G41D;ENSP00000407353:G159D;ENSP00000407043:G75D;ENSP00000393150:G159D	ENSP00000282881:G138D	G	-	2	0	IFLTD1	25590590	0.114000	0.22134	0.927000	0.36925	0.168000	0.22595	1.096000	0.30976	2.623000	0.88846	0.655000	0.94253	GGC		0.328	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1		
RASSF8	11228	broad.mit.edu	37	12	26217573	26217573	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:26217573G>A	ENST00000405154.2	+	3	445	c.246G>A	c.(244-246)ccG>ccA	p.P82P	RASSF8_ENST00000282884.9_Silent_p.P82P|RASSF8_ENST00000381352.3_Silent_p.P82P|RASSF8_ENST00000541490.1_Silent_p.P82P|RASSF8_ENST00000542865.1_Silent_p.P82P	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	82	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)			p.P82P(1)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					GAACTGGGCCGTCTCTCAGTG	0.483																																					p.P82P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G246A	12						.						115.0	113.0	114.0					12																	26217573		2203	4300	6503	26108840	SO:0001819	synonymous_variant	11228	exon4			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.246G>A	12.37:g.26217573G>A			26108840	NM_007211	A8K1Z0|O95647|Q5SCI2|Q76KB6	Silent	SNP	ENST00000405154.2	37	CCDS53765.1																																																																																				0.483	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211	
OVCH1	341350	broad.mit.edu	37	12	29630301	29630301	+	Missense_Mutation	SNP	C	C	T	rs180973595		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:29630301C>T	ENST00000318184.5	-	11	1218	c.1219G>A	c.(1219-1221)Gtt>Att	p.V407I	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	407	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V407I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGCAGTAACGGTAAGCTCA	0.453													A|||	1	0.000199681	0.0	0.0	5008	,	,		20472	0.001		0.0	False		,,,				2504	0.0				p.V407I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1219A	12						.	A	ILE/VAL	0,3898		0,0,1949	153.0	148.0	149.0		1219	1.7	0.0	12		149	1,8297		0,1,4148	no	missense	OVCH1	NM_183378.2	29	0,1,6097	TT,TC,CC		0.0121,0.0,0.0082	benign	407/1135	29630301	1,12195	1949	4149	6098	29521568	SO:0001583	missense	341350	exon11			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1219G>A	12.37:g.29630301C>T	ENSP00000326708:p.Val407Ile		29521568	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	14.81	2.645107	0.47258	0.0	1.21E-4	ENSG00000187950	ENST00000318184	T	0.19938	2.11	2.84	1.68	0.24146	CUB (3);	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	9	0.66056	D	0.02	.	1.5969	0.02666	0.5535:0.1724:0.1061:0.168	.	407	Q7RTY7	OVCH1_HUMAN	I	407	ENSP00000326708:V407I	ENSP00000326708:V407I	V	-	1	0	OVCH1	29521568	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.007000	0.29860	0.076000	0.16826	-0.256000	0.11100	GTT		0.453	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
IPO8	10526	broad.mit.edu	37	12	30792509	30792509	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:30792509G>T	ENST00000256079.4	-	21	2767	c.2429C>A	c.(2428-2430)cCt>cAt	p.P810H	IPO8_ENST00000544829.1_Missense_Mutation_p.P605H	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	810					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.P810H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GATAGGTCCAGGGTTGTGAGG	0.393																																					p.P810H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2429A	12						.						171.0	157.0	162.0					12																	30792509		2203	4300	6503	30683776	SO:0001583	missense	10526	exon21			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2429C>A	12.37:g.30792509G>T	ENSP00000256079:p.Pro810His		30683776	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213607	0.79352	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.69435	-0.4;-0.4	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.054988	0.85682	D	0.000000	T	0.74291	0.3697	L	0.50333	1.59	0.80722	D	1	D;P;P	0.55800	0.973;0.883;0.944	P;P;P	0.56343	0.796;0.746;0.497	T	0.74604	-0.3610	10	0.44086	T	0.13	-12.7705	18.3649	0.90388	0.0:0.0:1.0:0.0	.	605;286;810	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	H	810;286;605	ENSP00000256079:P810H;ENSP00000444520:P605H	ENSP00000256079:P810H	P	-	2	0	IPO8	30683776	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.306000	0.72810	2.348000	0.79779	0.557000	0.71058	CCT		0.393	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
IPO8	10526	broad.mit.edu	37	12	30818181	30818181	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:30818181C>T	ENST00000256079.4	-	13	1739	c.1401G>A	c.(1399-1401)ttG>ttA	p.L467L	IPO8_ENST00000544829.1_Silent_p.L262L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	467					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.L467L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCAGGTTAGACAATAATAATG	0.264																																					p.L467L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1401A	12						.						78.0	85.0	83.0					12																	30818181		2203	4297	6500	30709448	SO:0001819	synonymous_variant	10526	exon13			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1401G>A	12.37:g.30818181C>T			30709448	NM_006390	B7Z7M3	Silent	SNP	ENST00000256079.4	37	CCDS8719.1																																																																																				0.264	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
CAPRIN2	65981	broad.mit.edu	37	12	30863248	30863248	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:30863248G>T	ENST00000298892.5	-	17	3572	c.2822C>A	c.(2821-2823)cCt>cAt	p.P941H	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P657H|CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.P991H	NM_023925.3	NP_076414.2			caprin family member 2									p.P991H(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)					CTGAGGCAGAGGGTAGACGTG	0.522																																					p.P991H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2972A	12						.						182.0	182.0	182.0					12																	30863248		2203	4300	6503	30754515	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.2822C>A	12.37:g.30863248G>T	ENSP00000298892:p.Pro941His		30754515	NM_001002259		Missense_Mutation	SNP	ENST00000298892.5	37	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872901	0.91664	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	T;T;T	0.77489	-0.74;-0.8;-1.1	5.7	5.7	0.88788	Complement C1q protein (1);	0.000000	0.85682	D	0.000000	D	0.83501	0.5268	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85062	0.0935	10	0.87932	D	0	-8.549	19.8253	0.96616	0.0:0.0:1.0:0.0	.	991;941	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	H	941;991;657	ENSP00000298892:P941H;ENSP00000251071:P991H;ENSP00000309785:P657H	ENSP00000251071:P991H	P	-	2	0	CAPRIN2	30754515	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	9.611000	0.98342	2.682000	0.91365	0.655000	0.94253	CCT		0.522	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925	
PKP2	5318	broad.mit.edu	37	12	32955375	32955375	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:32955375C>A	ENST00000070846.6	-	11	2285	c.2261G>T	c.(2260-2262)aGg>aTg	p.R754M	PKP2_ENST00000340811.4_Missense_Mutation_p.R710M	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	754					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.R754K(1)|p.R754M(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGACAGATTCCTCAGCAGCGA	0.453																																					p.R754M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2261T	12						.						167.0	162.0	164.0					12																	32955375		2203	4300	6503	32846642	SO:0001583	missense	5318	exon11			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2261G>T	12.37:g.32955375C>A	ENSP00000070846:p.Arg754Met		32846642	NM_004572	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168418	0.57584	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.51071	0.72;0.72	4.65	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.052795	0.85682	D	0.000000	T	0.73410	0.3583	M	0.87456	2.885	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.994	T	0.79914	-0.1602	10	0.87932	D	0	-0.2797	17.4898	0.87700	0.0:1.0:0.0:0.0	.	710;710;754	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	M	710;754;754	ENSP00000342800:R710M;ENSP00000070846:R754M	ENSP00000070846:R754M	R	-	2	0	PKP2	32846642	1.000000	0.71417	0.997000	0.53966	0.272000	0.26649	5.094000	0.64523	2.281000	0.76405	0.643000	0.83706	AGG		0.453	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
TWF1	5756	broad.mit.edu	37	12	44193221	44193221	+	Nonsense_Mutation	SNP	G	G	A	rs149821567		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:44193221G>A	ENST00000395510.2	-	5	592	c.463C>T	c.(463-465)Cga>Tga	p.R155*	TWF1_ENST00000548315.1_Nonsense_Mutation_p.R155*|TWF1_ENST00000547564.1_5'Flank|TWF1_ENST00000552521.1_Nonsense_Mutation_p.R57*|TWF1_ENST00000325127.4_Nonsense_Mutation_p.R189*	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	155					barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R155*(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TTAATCTGTCGTAGTTCTTCC	0.343																																					p.R189X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C565T	12						.	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	68.0	69.0		463,463	1.9	1.0	12	dbSNP_134	69	0,8600		0,0,4300	no	stop-gained,stop-gained	TWF1	NM_001242397.1,NM_002822.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	155/358,155/351	44193221	1,13005	2203	4300	6503	42479488	SO:0001587	stop_gained	5756	exon5			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.463C>T	12.37:g.44193221G>A	ENSP00000378886:p.Arg155*		42479488	NM_002822	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Nonsense_Mutation	SNP	ENST00000395510.2	37	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099660	0.56183	2.27E-4	0.0	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	.	.	.	5.95	1.94	0.25998	.	0.101805	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7486	15.9346	0.79691	0.0:0.0:0.4244:0.5755	.	.	.	.	X	57;155;189;155;193	.	ENSP00000321058:R189X	R	-	1	2	TWF1	42479488	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.961000	0.40432	0.082000	0.17018	-0.182000	0.12963	CGA		0.343	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	
ARID2	196528	broad.mit.edu	37	12	46254635	46254635	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:46254635A>G	ENST00000334344.6	+	16	4997	c.4825A>G	c.(4825-4827)Agt>Ggt	p.S1609G	ARID2_ENST00000422737.1_Missense_Mutation_p.S1460G|ARID2_ENST00000444670.1_Missense_Mutation_p.S1219G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.S217G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1609					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1609G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGCCTAACAGTTCTCAGCC	0.448			"""N, S, F"""		hepatocellular carcinoma																																p.S1609G			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4825G	12						.						73.0	69.0	71.0					12																	46254635		2203	4300	6503	44540902	SO:0001583	missense	196528	exon16				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4825A>G	12.37:g.46254635A>G	ENSP00000335044:p.Ser1609Gly		44540902	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861649	0.51482	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.35048	1.33;1.46	5.86	3.55	0.40652	.	0.334636	0.39210	N	0.001424	T	0.20210	0.0486	N	0.12182	0.205	0.37920	D	0.931665	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.06881	-1.0802	10	0.42905	T	0.14	-3.1328	9.8204	0.40878	0.8624:0.0:0.1376:0.0	.	1609;1219;1609	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	G	1609;726;726;1460;1219;217	ENSP00000335044:S1609G;ENSP00000388357:S217G	ENSP00000335044:S1609G	S	+	1	0	ARID2	44540902	1.000000	0.71417	0.951000	0.38953	0.950000	0.60333	2.955000	0.49121	1.054000	0.40438	0.528000	0.53228	AGT		0.448	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
SCAF11	9169	broad.mit.edu	37	12	46322147	46322147	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:46322147C>T	ENST00000369367.3	-	11	1570	c.1337G>A	c.(1336-1338)tGc>tAc	p.C446Y	SCAF11_ENST00000465950.1_Missense_Mutation_p.C131Y|SCAF11_ENST00000419565.2_Missense_Mutation_p.C446Y|SCAF11_ENST00000549162.1_Missense_Mutation_p.C254Y	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	446					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C446Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACTTTTCAAGCAATTAGCAGA	0.388																																					p.C446Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337A	12						.						119.0	112.0	114.0					12																	46322147		2203	4300	6503	44608414	SO:0001583	missense	9169	exon11			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1337G>A	12.37:g.46322147C>T	ENSP00000358374:p.Cys446Tyr		44608414	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	5.464	0.270747	0.10349	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.44881	1.52;2.25;1.52;2.25;0.91	6.08	-2.68	0.06041	.	0.799731	0.11621	N	0.545787	T	0.19327	0.0464	N	0.14661	0.345	0.09310	N	1	B;B	0.20671	0.047;0.008	B;B	0.21360	0.034;0.009	T	0.15407	-1.0438	10	0.66056	D	0.02	7.3915	0.781	0.01041	0.1939:0.347:0.1893:0.2697	.	254;446	F8VXG7;Q99590	.;SCAFB_HUMAN	Y	131;446;254;446;386	ENSP00000449812:C131Y;ENSP00000358374:C446Y;ENSP00000448864:C254Y;ENSP00000413036:C446Y;ENSP00000446746:C386Y	ENSP00000358374:C446Y	C	-	2	0	SCAF11	44608414	0.654000	0.27367	0.000000	0.03702	0.375000	0.29983	0.099000	0.15210	-0.908000	0.03857	-0.226000	0.12346	TGC		0.388	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
VDR	7421	broad.mit.edu	37	12	48238785	48238785	+	Missense_Mutation	SNP	C	C	T	rs377423996		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:48238785C>T	ENST00000395324.2	-	10	1296	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	VDR_ENST00000550325.1_Missense_Mutation_p.R393H|VDR_ENST00000549336.1_Missense_Mutation_p.R343H|VDR_ENST00000229022.3_Missense_Mutation_p.R343H|VDR_ENST00000535672.1_Missense_Mutation_p.R311H			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	343	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R343H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CACCCCAGGACGATCTGTGGG	0.662																																					p.R343H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1028A	12						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	80.0	85.0	84.0		1028,1028,1178	4.1	1.0	12		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	VDR	NM_000376.2,NM_001017535.1,NM_001017536.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	343/428,343/428,393/478	48238785	1,13005	2203	4300	6503	46525052	SO:0001583	missense	7421	exon10			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1028G>A	12.37:g.48238785C>T	ENSP00000378734:p.Arg343His		46525052	NM_000376	B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861737	0.91433	0.0	1.16E-4	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	4.05	4.05	0.47172	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	D;P;D	0.74674	0.944;0.73;0.984	D	0.99060	1.0830	10	0.72032	D	0.01	.	15.3212	0.74124	0.0:1.0:0.0:0.0	.	311;343;393	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	H	343;343;343;393;311	ENSP00000378734:R343H;ENSP00000229022:R343H;ENSP00000449573:R343H;ENSP00000447173:R393H;ENSP00000442145:R311H	ENSP00000229022:R343H	R	-	2	0	VDR	46525052	1.000000	0.71417	0.989000	0.46669	0.039000	0.13416	7.413000	0.80104	2.268000	0.75426	0.462000	0.41574	CGT		0.662	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1		
COL2A1	1280	broad.mit.edu	37	12	48380129	48380129	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:48380129G>A	ENST00000380518.3	-	23	1681	c.1517C>T	c.(1516-1518)cCt>cTt	p.P506L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P437L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	506	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P437L(1)|p.P506L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTTTCTCCAGGGGGACCGAT	0.637																																					p.P437L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1310T	12						.						29.0	28.0	28.0					12																	48380129		2190	4287	6477	46666396	SO:0001583	missense	1280	exon22			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1517C>T	12.37:g.48380129G>A	ENSP00000369889:p.Pro506Leu		46666396	NM_033150	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470571	0.84533	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.98684	-5.07;-5.07	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	M	0.70595	2.14	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.34301	0.179;0.087	D	0.97833	1.0264	10	0.45353	T	0.12	.	16.9549	0.86256	0.0:0.0:1.0:0.0	.	437;506	P02458-1;P02458	.;CO2A1_HUMAN	L	506;437;437	ENSP00000369889:P506L;ENSP00000338213:P437L	ENSP00000338213:P437L	P	-	2	0	COL2A1	46666396	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	6.542000	0.73869	2.537000	0.85549	0.561000	0.74099	CCT		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
KMT2D	8085	broad.mit.edu	37	12	49431648	49431648	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:49431648C>T	ENST00000301067.7	-	34	9490	c.9491G>A	c.(9490-9492)cGg>cAg	p.R3164Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3164					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2894Q(1)									CCGGGTATCCCGGCTGCCCAT	0.617																																					p.R3164Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9491A	12						.						18.0	21.0	20.0					12																	49431648		1948	4139	6087	47717915	SO:0001583	missense	8085	exon34			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9491G>A	12.37:g.49431648C>T	ENSP00000301067:p.Arg3164Gln		47717915	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569405	0.28003	.	.	ENSG00000167548	ENST00000301067	T	0.80566	-1.39	5.74	5.74	0.90152	.	0.000000	0.33534	N	0.004815	T	0.67878	0.2940	N	0.19112	0.55	0.29774	N	0.834503	P	0.35401	0.499	B	0.23716	0.048	T	0.71623	-0.4537	10	0.87932	D	0	.	17.2259	0.86970	0.0:1.0:0.0:0.0	.	3164	O14686	MLL2_HUMAN	Q	3164	ENSP00000301067:R3164Q	ENSP00000301067:R3164Q	R	-	2	0	MLL2	47717915	0.871000	0.30034	1.000000	0.80357	0.793000	0.44817	2.568000	0.45965	2.884000	0.98904	0.655000	0.94253	CGG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
C1QL4	338761	broad.mit.edu	37	12	49729784	49729784	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:49729784G>A	ENST00000334221.3	-	1	1187	c.477C>T	c.(475-477)caC>caT	p.H159H		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	159	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.H159H(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCATGAGCACGTGGTAAGCGA	0.632																																					p.H159H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	12						.						38.0	39.0	39.0					12																	49729784		2202	4300	6502	48016051	SO:0001819	synonymous_variant	338761	exon1				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.477C>T	12.37:g.49729784G>A			48016051	NM_001008223		Silent	SNP	ENST00000334221.3	37	CCDS31793.1																																																																																				0.632	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223	
BIN2	51411	broad.mit.edu	37	12	51685934	51685934	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:51685934T>C	ENST00000267012.4	-	10	1017	c.956A>G	c.(955-957)gAg>gGg	p.E319G	BIN2_ENST00000544402.1_Missense_Mutation_p.E293G|BIN2_ENST00000452142.2_Missense_Mutation_p.E287G|BIN2_ENST00000604560.1_Missense_Mutation_p.E292G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	319					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.E319G(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTCTATTTCCTCCTCTTCTAA	0.527																																					p.E319G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A956G	12						.						68.0	64.0	65.0					12																	51685934		2203	4300	6503	49972201	SO:0001583	missense	51411	exon10			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.956A>G	12.37:g.51685934T>C	ENSP00000267012:p.Glu319Gly		49972201	NM_016293	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	8.831	0.939852	0.18281	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96992	-4.2;-0.19;-0.19	4.83	2.44	0.29823	.	1.019240	0.07820	N	0.959685	D	0.92001	0.7466	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46142	0.787;0.873;0.799	B;B;B	0.42361	0.298;0.385;0.156	D	0.84816	0.0793	10	0.38643	T	0.18	-6.4738	5.0254	0.14381	0.0:0.0949:0.1849:0.7203	.	293;287;319	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	G	287;319;293	ENSP00000410217:E287G;ENSP00000267012:E319G;ENSP00000445874:E293G	ENSP00000267012:E319G	E	-	2	0	BIN2	49972201	0.014000	0.17966	0.058000	0.19502	0.260000	0.26232	2.154000	0.42291	0.416000	0.25844	0.533000	0.62120	GAG		0.527	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		
KRT84	3890	broad.mit.edu	37	12	52778971	52778971	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:52778971T>C	ENST00000257951.3	-	1	465	c.399A>G	c.(397-399)gcA>gcG	p.A133A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	133	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.A133A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGATGGGGCTGCTGGGACTC	0.562																																					p.A133A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A399G	12						.						170.0	169.0	169.0					12																	52778971		2203	4300	6503	51065238	SO:0001819	synonymous_variant	3890	exon1			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.399A>G	12.37:g.52778971T>C			51065238	NM_033045	B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																				0.562	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
KRT4	3851	broad.mit.edu	37	12	53201439	53201439	+	Silent	SNP	G	G	A	rs373880777		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:53201439G>A	ENST00000551956.1	-	7	1827	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	KRT4_ENST00000293774.4_Silent_p.G519G|KRT4_ENST00000458244.2_Silent_p.G425G			P19013	K2C4_HUMAN	keratin 4	459	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G519G(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGTACTCCTCGCCCTCCAGCA	0.587																																					p.G519G	Pancreas(190;284 2995 41444 45903)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1557T	12						.	G		1,4405	2.1+/-5.4	0,1,2202	107.0	104.0	105.0		1335	4.5	1.0	12		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT4	NM_002272.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		445/521	53201439	2,13004	2203	4300	6503	51487706	SO:0001819	synonymous_variant	3851	exon7				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1335C>T	12.37:g.53201439G>A			51487706	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.587	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
OR6C75	390323	broad.mit.edu	37	12	55759286	55759286	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:55759286C>T	ENST00000343399.3	+	1	392	c.392C>T	c.(391-393)aCa>aTa	p.T131I		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T131I(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTCATTACACAATCATCATG	0.463																																					p.T131I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C392T	12						.						166.0	141.0	149.0					12																	55759286		2203	4300	6503	54045553	SO:0001583	missense	390323	exon1				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.392C>T	12.37:g.55759286C>T	ENSP00000368987:p.Thr131Ile		54045553	NM_001005497		Missense_Mutation	SNP	ENST00000343399.3	37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	c	7.166	0.586709	0.13749	.	.	ENSG00000187857	ENST00000343399	T	0.00498	6.97	5.25	-3.37	0.04898	GPCR, rhodopsin-like superfamily (1);	0.323422	0.21233	N	0.077946	T	0.00608	0.0020	M	0.80183	2.485	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.39251	-0.9623	10	0.54805	T	0.06	.	9.9605	0.41693	0.0:0.2351:0.1317:0.6333	.	131	A6NL08	O6C75_HUMAN	I	131	ENSP00000368987:T131I	ENSP00000368987:T131I	T	+	2	0	OR6C75	54045553	0.000000	0.05858	0.000000	0.03702	0.426000	0.31534	-2.160000	0.01279	-1.018000	0.03363	0.637000	0.83480	ACA		0.463	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
ITGA7	3679	broad.mit.edu	37	12	56082678	56082678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:56082678C>T	ENST00000555728.1	-	23	3068	c.3040G>A	c.(3040-3042)Gcg>Acg	p.A1014T	ITGA7_ENST00000553804.1_Missense_Mutation_p.A974T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A970T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A970T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A964T|ITGA7_ENST00000452168.2_Missense_Mutation_p.A877T|ITGA7_ENST00000257880.7_Missense_Mutation_p.A1014T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A974T			Q13683	ITA7_HUMAN	integrin, alpha 7	1014					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.A970T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGCACAGCCGCGCGGTCAAAG	0.592																																					p.A877T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2629A	12						.						69.0	71.0	70.0					12																	56082678		2203	4300	6503	54368945	SO:0001583	missense	3679	exon22				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3040G>A	12.37:g.56082678C>T	ENSP00000452387:p.Ala1014Thr		54368945	NM_001144997	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	C	3.618	-0.078175	0.07184	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	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	3.56	0.40772	.	0.667475	0.14728	N	0.301939	T	0.28732	0.0712	L	0.28274	0.84	0.09310	N	1	B;B;B;B	0.11235	0.001;0.0;0.0;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.21690	-1.0238	10	0.16420	T	0.52	.	4.5672	0.12193	0.1568:0.6079:0.1519:0.0834	.	877;1014;974;1033	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	974;970;964;877;1014;974;970;843;1014	ENSP00000452120:A974T;ENSP00000257879:A970T;ENSP00000343009:A964T;ENSP00000393844:A877T;ENSP00000257880:A1014T;ENSP00000377777:A974T;ENSP00000377776:A970T;ENSP00000452387:A1014T	ENSP00000257879:A970T	A	-	1	0	ITGA7	54368945	0.000000	0.05858	0.001000	0.08648	0.224000	0.24922	-0.212000	0.09319	0.632000	0.30432	0.644000	0.83932	GCG		0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
MYL6B	140465	broad.mit.edu	37	12	56549253	56549253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:56549253G>A	ENST00000553066.1	+	5	819	c.397G>A	c.(397-399)Gca>Aca	p.A133T	MYL6_ENST00000550697.1_5'Flank|MYL6B_ENST00000550443.1_Missense_Mutation_p.A133T|MYL6B_ENST00000550152.1_3'UTR|MYL6_ENST00000551589.1_5'Flank|MYL6_ENST00000549566.1_5'Flank|MYL6_ENST00000549017.1_5'Flank|MYL6_ENST00000547408.1_5'Flank|MYL6B_ENST00000552568.1_Missense_Mutation_p.A133T|MYL6_ENST00000536128.1_5'Flank|MYL6_ENST00000547649.1_5'Flank|MYL6_ENST00000293422.5_5'Flank|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000548580.1_5'Flank|MYL6B_ENST00000207437.5_Missense_Mutation_p.A133T|MYL6_ENST00000348108.4_5'Flank|MYL6_ENST00000548400.1_5'Flank|MYL6_ENST00000548293.1_5'Flank			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	133					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.A133T(1)		endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CATGCTCCAGGCAGTGGCCAA	0.532																																					p.A133T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	12						.						150.0	138.0	142.0					12																	56549253		2203	4300	6503	54835520	SO:0001583	missense	140465	exon5			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.397G>A	12.37:g.56549253G>A	ENSP00000450385:p.Ala133Thr		54835520	NM_001199629		Missense_Mutation	SNP	ENST00000553066.1	37	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421721	0.25639	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.38	1.97	0.26223	EF-hand-like domain (1);	0.230499	0.44285	N	0.000462	T	0.61751	0.2372	N	0.11818	0.18	0.50632	D	0.999884	B;B	0.22080	0.064;0.019	B;B	0.15484	0.013;0.004	T	0.49000	-0.8984	10	0.07030	T	0.85	-3.3364	1.7449	0.02960	0.2849:0.1336:0.4448:0.1367	.	133;133	B4E368;P14649	.;MYL6B_HUMAN	T	133	ENSP00000450385:A133T;ENSP00000446643:A133T;ENSP00000207437:A133T;ENSP00000446965:A133T	ENSP00000207437:A133T	A	+	1	0	MYL6B	54835520	0.097000	0.21791	1.000000	0.80357	0.994000	0.84299	0.335000	0.19806	0.577000	0.29470	0.491000	0.48974	GCA		0.532	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475	
ANKRD52	283373	broad.mit.edu	37	12	56646002	56646002	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:56646002A>G	ENST00000267116.7	-	14	1589	c.1468T>C	c.(1468-1470)Tgc>Cgc	p.C490R		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	490								p.C490R(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGGGAGAGCAGCCTTTACAG	0.587																																					p.C490R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1468C	12						.						95.0	102.0	100.0					12																	56646002		2082	4201	6283	54932269	SO:0001583	missense	283373	exon14			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.1468T>C	12.37:g.56646002A>G	ENSP00000267116:p.Cys490Arg		54932269	NM_173595	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	A	9.559	1.117848	0.20877	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.50548	0.74	5.3	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	N	0.04320	-0.23	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.07693	-1.0759	10	0.25106	T	0.35	.	9.948	0.41621	0.9181:0.0:0.0819:0.0	.	490	Q8NB46	ANR52_HUMAN	R	490	ENSP00000267116:C490R	ENSP00000267116:C490R	C	-	1	0	ANKRD52	54932269	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.329000	0.65892	2.144000	0.66660	0.455000	0.32223	TGC		0.587	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
GLS2	27165	broad.mit.edu	37	12	56867050	56867050	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:56867050G>A	ENST00000311966.4	-	14	1689	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	471					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.R471W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TCTAACTTCCGAGCACAGTGC	0.453																																					p.R471W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1411T	12						.						102.0	100.0	101.0					12																	56867050		2203	4300	6503	55153317	SO:0001583	missense	27165	exon14				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1411C>T	12.37:g.56867050G>A	ENSP00000310447:p.Arg471Trp		55153317	NM_013267	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076084	0.76415	.	.	ENSG00000135423	ENST00000311966	T	0.30182	1.54	4.79	3.84	0.44239	.	0.272565	0.37136	N	0.002237	T	0.29256	0.0728	L	0.29908	0.895	0.80722	D	1	P	0.48089	0.905	P	0.46885	0.53	T	0.09422	-1.0675	10	0.87932	D	0	-36.8871	14.0415	0.64678	0.0:0.0:0.8485:0.1515	.	471	Q9UI32	GLSL_HUMAN	W	471	ENSP00000310447:R471W	ENSP00000310447:R471W	R	-	1	2	GLS2	55153317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.311000	0.59147	2.655000	0.90218	0.591000	0.81541	CGG		0.453	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267	
BAZ2A	11176	broad.mit.edu	37	12	56993100	56993100	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:56993100G>A	ENST00000551812.1	-	27	5414	c.5221C>T	c.(5221-5223)Cgt>Tgt	p.R1741C	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1711C|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1709C|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1739C	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1741					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1741C(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTCTGGCCACGCTTTGGGAAA	0.552																																					p.R1741C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5221T	12						.																																			55279367	SO:0001583	missense	11176	exon27			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5221C>T	12.37:g.56993100G>A	ENSP00000446880:p.Arg1741Cys		55279367	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538674	0.65085	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.72725	-0.42;-0.42;-0.44;-0.68;-0.43	5.45	5.45	0.79879	Zinc finger, FYVE/PHD-type (1);	0.068528	0.56097	D	0.000030	T	0.75019	0.3793	N	0.19112	0.55	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.995;0.99;0.986;0.978	T	0.76849	-0.2807	10	0.56958	D	0.05	-7.7411	17.5912	0.87997	0.0:0.0:1.0:0.0	.	1739;1737;1741;1714	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	C	1711;1709;1741;673;1739	ENSP00000368754:R1711C;ENSP00000179765:R1709C;ENSP00000446880:R1741C;ENSP00000448760:R673C;ENSP00000447941:R1739C	ENSP00000179765:R1709C	R	-	1	0	BAZ2A	55279367	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.105000	0.41825	2.941000	0.99782	0.655000	0.94253	CGT		0.552	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
BAZ2A	11176	broad.mit.edu	37	12	56997396	56997396	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:56997396G>A	ENST00000551812.1	-	17	3326	c.3133C>T	c.(3133-3135)Cgg>Tgg	p.R1045W	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1015W|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1013W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1043W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1045					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1045W(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCATGATCCGAGAACTGCGC	0.557																																					p.R1045W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3133T	12						.						91.0	94.0	93.0					12																	56997396		2033	4181	6214	55283663	SO:0001583	missense	11176	exon17			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3133C>T	12.37:g.56997396G>A	ENSP00000446880:p.Arg1045Trp		55283663	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090224	0.76756	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69040	-0.36;-0.36;-0.37;-0.37	4.98	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	L	0.60455	1.87	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.78031	-0.2363	10	0.72032	D	0.01	.	10.8902	0.46992	0.0:0.0:0.8114:0.1886	.	1043;1045;1045	F8VU39;Q9UIF9-3;Q9UIF9	.;.;BAZ2A_HUMAN	W	1015;1013;1045;1043	ENSP00000368754:R1015W;ENSP00000179765:R1013W;ENSP00000446880:R1045W;ENSP00000447941:R1043W	ENSP00000179765:R1013W	R	-	1	2	BAZ2A	55283663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.142000	0.50601	1.192000	0.43071	0.655000	0.94253	CGG		0.557	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
PTGES3	10728	broad.mit.edu	37	12	57066737	57066737	+	Splice_Site	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:57066737T>C	ENST00000262033.6	-	2	415	c.115A>G	c.(115-117)Agt>Ggt	p.S39G	PTGES3_ENST00000456859.2_Splice_Site_p.S39G|RN7SL809P_ENST00000482040.2_RNA|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000436399.2_Splice_Site_p.S39G|PTGES3_ENST00000414274.3_Splice_Site_p.S39G|PTGES3_ENST00000448157.2_Splice_Site_p.S39G	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	39	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082)	p.S39G(1)		large_intestine(1)|lung(1)	2						TTAACTTACCTGAATGTAAGT	0.308																																					p.S39G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A115G	12						.						46.0	46.0	46.0					12																	57066737		2203	4300	6503	55353004	SO:0001630	splice_region_variant	10728	exon2			BC003005	CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1	12q13.13	2012-03-14			ENSG00000110958	ENSG00000110958			16049	protein-coding gene	gene with protein product		607061				8114727, 12077419	Standard	XR_245889		Approved	p23, TEBP, cPGES	uc001slu.4	Q15185	OTTHUMG00000170217	ENST00000262033.6:c.116+1A>G	12.37:g.57066737T>C			55353004	NM_006601	A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70	Missense_Mutation	SNP	ENST00000262033.6	37	CCDS31836.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359898	0.61403	.	.	ENSG00000110958	ENST00000262033;ENST00000414274;ENST00000436399;ENST00000448157;ENST00000456859	T;T;T;T;T	0.34472	2.45;2.45;2.45;2.45;1.36	5.73	5.73	0.89815	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.80847	2.515	0.80722	D	1	B;D;B;B	0.57257	0.059;0.979;0.034;0.059	B;D;B;B	0.71414	0.028;0.973;0.023;0.031	T	0.66452	-0.5920	10	0.62326	D	0.03	.	15.0133	0.71565	0.0:0.0:0.0:1.0	.	39;39;39;39	B4DP11;B4DHP2;B4DP21;Q15185	.;.;.;TEBP_HUMAN	G	39	ENSP00000262033:S39G;ENSP00000405299:S39G;ENSP00000402385:S39G;ENSP00000414892:S39G;ENSP00000389090:S39G	ENSP00000262033:S39G	S	-	1	0	PTGES3	55353004	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.865000	0.87049	2.190000	0.69967	0.455000	0.32223	AGT		0.308	PTGES3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408054.1	NM_006601	Missense_Mutation
LRP1	4035	broad.mit.edu	37	12	57592065	57592065	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:57592065A>G	ENST00000243077.3	+	59	9875	c.9409A>G	c.(9409-9411)Acg>Gcg	p.T3137A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3137					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.T3137A(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCTATCGGACGGTGCTGGT	0.637																																					p.T3137A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9409G	12						.						77.0	78.0	78.0					12																	57592065		2203	4300	6503	55878332	SO:0001583	missense	4035	exon59			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9409A>G	12.37:g.57592065A>G	ENSP00000243077:p.Thr3137Ala		55878332	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140908	0.56936	.	.	ENSG00000123384	ENST00000243077	D	0.93307	-3.2	4.66	4.66	0.58398	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073656	0.50627	D	0.000103	D	0.90981	0.7164	L	0.43923	1.385	0.80722	D	1	P	0.41710	0.76	P	0.45538	0.484	D	0.88612	0.3157	10	0.19147	T	0.46	.	13.4961	0.61426	1.0:0.0:0.0:0.0	.	3137	Q07954	LRP1_HUMAN	A	3137	ENSP00000243077:T3137A	ENSP00000243077:T3137A	T	+	1	0	LRP1	55878332	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.252000	0.78309	2.074000	0.62210	0.459000	0.35465	ACG		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
INHBE	83729	broad.mit.edu	37	12	57850223	57850223	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:57850223G>A	ENST00000266646.2	+	2	861	c.645G>A	c.(643-645)caG>caA	p.Q215Q	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	215			Q -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		growth (GO:0040007)	extracellular region (GO:0005576)		p.Q215H(1)|p.Q215Q(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CAGGACACCAGCAGCCCTTCC	0.592											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q215Q	GBM(191;1808 2166 15720 36624 50371)											INHBE,breast,NS,Substitution - Missense,0 	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|breast(1)	c.G645A	12						.						72.0	84.0	80.0					12																	57850223		2203	4300	6503	56136490	SO:0001819	synonymous_variant	83729	exon2				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.645G>A	12.37:g.57850223G>A		1026	56136490	NM_031479		Silent	SNP	ENST00000266646.2	37	CCDS8939.1																																																																																				0.592	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479	
ARHGAP9	64333	broad.mit.edu	37	12	57869151	57869151	+	Missense_Mutation	SNP	C	C	T	rs143954280		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:57869151C>T	ENST00000356411.2	-	12	1670	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R308H|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R492H|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R582H|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R492H|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R571H			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	511	Lipid binding.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R511H(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTTGCGCACGCGGTTCTGCTC	0.687																																					p.R308H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923A	12						.	C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	32.0	31.0	32.0		923,1475,1475	4.1	1.0	12	dbSNP_134	32	0,8596		0,0,4298	no	missense,missense,missense	ARHGAP9	NM_001080156.1,NM_001080157.1,NM_032496.2	29,29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	308/548,492/641,492/732	57869151	1,13001	2203	4298	6501	56155418	SO:0001583	missense	64333	exon10			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1532G>A	12.37:g.57869151C>T	ENSP00000348782:p.Arg511His		56155418	NM_001080156	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.	.	.	.	.	.	.	.	.	.	C	13.67	2.305506	0.40795	2.27E-4	0.0	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041	T;T;T;T;T	0.28666	2.99;2.98;1.6;2.95;2.89	4.97	4.07	0.47477	.	0.062431	0.64402	D	0.000013	T	0.50956	0.1646	M	0.73217	2.22	0.41767	D	0.989741	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.959	D;D;D;D;B	0.78314	0.93;0.991;0.953;0.972;0.348	T	0.52902	-0.8513	10	0.87932	D	0	.	10.4255	0.44375	0.0:0.9065:0.0:0.0935	.	571;511;492;492;308	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	H	492;511;162;492;582;541;308	ENSP00000377380:R492H;ENSP00000348782:R511H;ENSP00000394307:R492H;ENSP00000377386:R582H;ENSP00000397950:R308H	ENSP00000344852:R541H	R	-	2	0	ARHGAP9	56155418	0.963000	0.33076	0.996000	0.52242	0.068000	0.16541	2.532000	0.45659	2.706000	0.92434	0.555000	0.69702	CGC		0.687	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
CDK4	1019	broad.mit.edu	37	12	58142347	58142347	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:58142347C>T	ENST00000257904.6	-	8	1238	c.873G>A	c.(871-873)caG>caA	p.Q291Q	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000540325.1_Silent_p.Q171Q|CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000549606.1_Silent_p.Q28Q|CDK4_ENST00000551888.1_5'Flank	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.Q291Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GATAAGAGTGCTGCAGAGCTC	0.478			Mis			melanoma			Hereditary Melanoma																												p.Q291Q		yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G873A	12						.						206.0	203.0	204.0					12																	58142347		2203	4300	6503	56428614	SO:0001819	synonymous_variant	1019	exon8	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.873G>A	12.37:g.58142347C>T			56428614	NM_000075	B2R9A0|B4DNF9|O00576|Q6FG61	Silent	SNP	ENST00000257904.6	37	CCDS8953.1																																																																																				0.478	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075	
AVIL	10677	broad.mit.edu	37	12	58200246	58200246	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:58200246G>A	ENST00000257861.3	-	13	1998	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.S516F|RNU6-1083P_ENST00000384022.1_RNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	523	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.S523F(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)					TTTGGTGTTAGATTTGTCATT	0.498																																					p.S523F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1568T	12						.						158.0	141.0	147.0					12																	58200246		2203	4300	6503	56486513	SO:0001583	missense	10677	exon13			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.1568C>T	12.37:g.58200246G>A	ENSP00000257861:p.Ser523Phe		56486513	NM_006576	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	G	6.520	0.464152	0.12402	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.13657	2.57;2.57	5.16	3.34	0.38264	.	0.115779	0.64402	D	0.000012	T	0.06962	0.0177	N	0.11756	0.17	0.39094	D	0.961153	B;B	0.02656	0.0;0.0	B;B	0.12837	0.001;0.008	T	0.23904	-1.0175	10	0.10111	T	0.7	-6.607	11.045	0.47852	0.1322:0.0:0.8678:0.0	.	516;523	O75366-2;O75366	.;AVIL_HUMAN	F	516;523	ENSP00000443207:S516F;ENSP00000257861:S523F	ENSP00000257861:S523F	S	-	2	0	AVIL	56486513	0.006000	0.16342	0.945000	0.38365	0.997000	0.91878	0.657000	0.24963	0.757000	0.33036	0.561000	0.74099	TCT		0.498	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
USP15	9958	broad.mit.edu	37	12	62794998	62794998	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:62794998delA	ENST00000280377.5	+	21	2764	c.2706delA	c.(2704-2706)ggafs	p.G902fs	USP15_ENST00000393654.3_Frame_Shift_Del_p.G877fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.G873fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	902	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K874fs*57(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAGATGATGGAAAATGGTACT	0.343																																					p.G873fs	Melanoma(181;615 2041 39364 49691 50001)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2619delA	12						.						68.0	66.0	67.0					12																	62794998		2203	4296	6499	61081265	SO:0001589	frameshift_variant	9958	exon20			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2706delA	12.37:g.62794998delA	ENSP00000280377:p.Gly902fs		61081265	NM_006313	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Del	DEL	ENST00000280377.5	37	CCDS58251.1																																																																																				0.343	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
C12orf66	144577	broad.mit.edu	37	12	64588307	64588307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:64588307C>T	ENST00000398055.3	-	3	706	c.653G>A	c.(652-654)aGt>aAt	p.S218N	C12orf66_ENST00000311915.8_Missense_Mutation_p.S218N|C12orf66_ENST00000544871.1_Missense_Mutation_p.S165N	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	218								p.S218N(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GGTGTGCGCACTGTGTAAATT	0.537																																					p.S218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653A	12						.						82.0	78.0	79.0					12																	64588307		1984	4166	6150	62874574	SO:0001583	missense	144577	exon3				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.653G>A	12.37:g.64588307C>T	ENSP00000381132:p.Ser218Asn		62874574	NM_152440	C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	C	6.351	0.432894	0.12045	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.43688	0.94;0.94;0.94	5.94	4.11	0.48088	.	0.158442	0.64402	N	0.000001	T	0.15609	0.0376	N	0.02011	-0.69	0.25683	N	0.98578	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21861	-1.0233	9	.	.	.	-8.1699	8.4636	0.32942	0.0:0.7053:0.0:0.2947	.	165;218	F5H2Q3;Q96MD2	.;CL066_HUMAN	N	218;165;218	ENSP00000311486:S218N;ENSP00000445481:S165N;ENSP00000381132:S218N	.	S	-	2	0	C12orf66	62874574	0.587000	0.26791	0.952000	0.39060	0.974000	0.67602	1.167000	0.31847	0.829000	0.34733	0.561000	0.74099	AGT		0.537	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440	
WIF1	11197	broad.mit.edu	37	12	65514230	65514230	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:65514230A>G	ENST00000286574.4	-	2	629	c.255T>C	c.(253-255)caT>caC	p.H85H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	85	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.H85H(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AATTCATGGAATGGATATTGA	0.398			T	HMGA2	pleomorphic salivary gland adenoma																																p.H85H	Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T255C	12						.						128.0	130.0	129.0					12																	65514230		2203	4300	6503	63800497	SO:0001819	synonymous_variant	11197	exon2			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.255T>C	12.37:g.65514230A>G			63800497	NM_007191	Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	CCDS8971.1																																																																																				0.398	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		
FRS2	10818	broad.mit.edu	37	12	69968121	69968121	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:69968121G>A	ENST00000550389.1	+	7	1159	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	FRS2_ENST00000397997.2_Missense_Mutation_p.V305M|FRS2_ENST00000549921.1_Missense_Mutation_p.V305M|FRS2_ENST00000299293.2_Missense_Mutation_p.V305M	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	305					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V305M(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAACAAACTGGTGTATGAAAA	0.448																																					p.V305M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G913A	12						.						77.0	76.0	76.0					12																	69968121		1919	4130	6049	68254388	SO:0001583	missense	10818	exon10			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.913G>A	12.37:g.69968121G>A	ENSP00000447241:p.Val305Met		68254388	NM_001042555	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067580	0.36470	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	6.04	5.14	0.70334	.	0.419637	0.27294	N	0.020036	T	0.17746	0.0426	L	0.29908	0.895	0.37277	D	0.907664	P	0.39576	0.679	B	0.28784	0.094	T	0.07328	-1.0778	9	.	.	.	-7.543	17.4794	0.87669	0.0:0.1241:0.8759:0.0	.	305	Q8WU20	FRS2_HUMAN	M	305	ENSP00000299293:V305M;ENSP00000450048:V305M;ENSP00000447241:V305M;ENSP00000381083:V305M	.	V	+	1	0	FRS2	68254388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.429000	0.66495	1.559000	0.49555	0.650000	0.86243	GTG		0.448	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654	
CEP290	80184	broad.mit.edu	37	12	88482855	88482855	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:88482855A>G	ENST00000552810.1	-	31	4326	c.3983T>C	c.(3982-3984)cTg>cCg	p.L1328P	CEP290_ENST00000397838.3_Missense_Mutation_p.L388P|CEP290_ENST00000309041.7_Missense_Mutation_p.L1330P|CEP290_ENST00000547691.2_Missense_Mutation_p.L388P	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1328					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.L1330P(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAACTCTTCCAGGCCCTTTAA	0.299																																					p.L1328P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3983C	12						.						76.0	71.0	72.0					12																	88482855		1799	4066	5865	87006986	SO:0001583	missense	80184	exon31			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3983T>C	12.37:g.88482855A>G	ENSP00000448012:p.Leu1328Pro		87006986	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446568	0.63178	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.75821	-0.25;-0.97;-0.96;-0.25	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.84781	0.5548	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.85565	0.1230	10	0.52906	T	0.07	.	15.7269	0.77766	1.0:0.0:0.0:0.0	.	1328	O15078	CE290_HUMAN	P	388;1328;1330;388	ENSP00000446905:L388P;ENSP00000448012:L1328P;ENSP00000308021:L1330P;ENSP00000380938:L388P	ENSP00000308021:L1330P	L	-	2	0	CEP290	87006986	0.993000	0.37304	0.068000	0.19968	0.810000	0.45777	8.417000	0.90247	2.123000	0.65237	0.482000	0.46254	CTG		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
ATP2B1	490	broad.mit.edu	37	12	89984902	89984902	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:89984902T>C	ENST00000428670.3	-	21	3978	c.3522A>G	c.(3520-3522)aaA>aaG	p.K1174K	ATP2B1_ENST00000393164.2_Silent_p.K917K|ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000348959.3_Silent_p.K1138K|AC068641.1_ENST00000585304.1_RNA|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000261173.2_Silent_p.K1174K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1212					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.K1174K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGGAGTTACGTTTTGTAGGAG	0.413																																					p.K1174K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3522G	12						.						259.0	232.0	241.0					12																	89984902		2203	4300	6503	88509033	SO:0001819	synonymous_variant	490	exon20			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3522A>G	12.37:g.89984902T>C			88509033	NM_001682	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	2.298	-0.360879	0.05103	.	.	ENSG00000070961	ENST00000550716	.	.	.	5.39	2.7	0.31948	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54536	-0.8279	4	.	.	.	-20.8506	9.6137	0.39679	0.0:0.2223:0.0:0.7777	.	.	.	.	S	155	.	.	N	-	2	0	ATP2B1	88509033	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.711000	0.37930	0.886000	0.36113	0.482000	0.46254	AAC		0.413	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
HAL	3034	broad.mit.edu	37	12	96384181	96384181	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:96384181T>C	ENST00000261208.3	-	10	1213	c.845A>G	c.(844-846)gAt>gGt	p.D282G	HAL_ENST00000538703.1_Missense_Mutation_p.D282G|HAL_ENST00000541929.1_Missense_Mutation_p.D74G|HAL_ENST00000551562.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	282					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.D282G(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTATTTAGCATCAGCCCAGCC	0.522																																					p.D282G	NSCLC(169;943 2815 23563 30031)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A845G	12						.						135.0	108.0	117.0					12																	96384181		2203	4300	6503	94908312	SO:0001583	missense	3034	exon10				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.845A>G	12.37:g.96384181T>C	ENSP00000261208:p.Asp282Gly		94908312	NM_002108	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653107	0.47362	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.45	5.45	0.79879	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	M	0.75447	2.3	0.80722	D	1	P;B	0.48764	0.915;0.101	P;B	0.50896	0.653;0.432	D	0.85289	0.1066	10	0.59425	D	0.04	-22.5966	15.5125	0.75795	0.0:0.0:0.0:1.0	.	282;282	F5GXF2;P42357	.;HUTH_HUMAN	G	282;74;282;270	ENSP00000261208:D282G;ENSP00000446364:D74G;ENSP00000440861:D282G;ENSP00000450372:D270G	ENSP00000261208:D282G	D	-	2	0	HAL	94908312	1.000000	0.71417	0.990000	0.47175	0.920000	0.55202	7.541000	0.82084	2.080000	0.62538	0.459000	0.35465	GAT		0.522	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
CDK17	5128	broad.mit.edu	37	12	96683010	96683010	+	Silent	SNP	T	T	C	rs45574339		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:96683010T>C	ENST00000261211.3	-	11	1656	c.1053A>G	c.(1051-1053)acA>acG	p.T351T	CDK17_ENST00000543119.2_Silent_p.T351T|CDK17_ENST00000542666.1_Silent_p.T298T|CDK17_ENST00000553042.1_5'Flank	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.T351T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GGTACCATAGTGTGACAACTT	0.403																																					p.T351T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1053G	12						.						205.0	174.0	184.0					12																	96683010		2203	4300	6503	95207141	SO:0001819	synonymous_variant	5128	exon11				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1053A>G	12.37:g.96683010T>C			95207141	NM_002595	A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	ENST00000261211.3	37	CCDS9061.1																																																																																				0.403	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	
ZNF26	7574	broad.mit.edu	37	12	133588042	133588042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr12:133588042G>A	ENST00000328654.5	+	4	1954	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	ZNF26_ENST00000534834.1_Missense_Mutation_p.R506H	NM_019591.3	NP_062537.2	P17031	ZNF26_HUMAN	zinc finger protein 26	526					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.R526H(1)		autonomic_ganglia(1)|large_intestine(7)|lung(2)|prostate(1)|skin(2)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.24e-11)|all_epithelial(31;1.21e-08)|Lung NSC(355;0.000431)		OV - Ovarian serous cystadenocarcinoma(86;9.53e-09)|Epithelial(86;2.63e-07)|all cancers(50;1.14e-05)		TCAGGGCTTCGTATACATCGG	0.418																																					p.R526H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1577A	12						.																																			132098115	SO:0001583	missense	7574	exon4			X52351	CCDS31939.1	12q24.33	2013-01-08	2006-05-10		ENSG00000198393	ENSG00000198393		"""Zinc fingers, C2H2-type"", ""-"""	13053	protein-coding gene	gene with protein product		194537	"""zinc finger protein 26 (KOX 20)"""				Standard	NM_001256279		Approved	KOX20, FLJ20755	uc031qkj.1	P17031	OTTHUMG00000167936	ENST00000328654.5:c.1577G>A	12.37:g.133588042G>A	ENSP00000333725:p.Arg526His		132098115	NM_019591	Q86X57|Q9NWL3	Missense_Mutation	SNP	ENST00000328654.5	37	CCDS31939.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028615	0.54790	.	.	ENSG00000198393	ENST00000328654;ENST00000534834	T;T	0.61274	0.12;0.12	4.03	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33650	N	0.004694	T	0.39759	0.1090	L	0.41824	1.3	0.19575	N	0.999969	B	0.25351	0.124	B	0.15052	0.012	T	0.12167	-1.0558	9	.	.	.	.	5.2739	0.15639	0.3383:0.0:0.6617:0.0	.	526	P17031	ZNF26_HUMAN	H	526;506	ENSP00000333725:R526H;ENSP00000437420:R506H	.	R	+	2	0	ZNF26	132098115	0.000000	0.05858	0.833000	0.33012	0.960000	0.62799	-0.290000	0.08354	1.030000	0.39839	0.585000	0.79938	CGT		0.418	ZNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397145.2	NM_019591	
COL4A2	1284	broad.mit.edu	37	13	111156323	111156324	+	Frame_Shift_Ins	INS	-	-	C	rs34603892		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:111156323_111156324insC	ENST00000360467.5	+	44	4574_4575	c.4268_4269insC	c.(4267-4272)ggccccfs	p.GP1423fs	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1423	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1426fs*30(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCCCAGGGCCCCCCCGGAG	0.703																																					p.G1423fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.4268_4269insC	13						.																																			109954325	SO:0001589	frameshift_variant	1284	exon44			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4275dupC	13.37:g.111156330_111156330dupC	ENSP00000353654:p.Gly1423fs		109954324	NM_001846	Q14052|Q548C3|Q5VZA9|Q66K23	Frame_Shift_Ins	INS	ENST00000360467.5	37	CCDS41907.1																																																																																				0.703	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
CUL4A	8451	broad.mit.edu	37	13	113917887	113917887	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:113917887C>T	ENST00000375440.4	+	20	2355	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	CUL4A_ENST00000451881.1_Silent_p.Y657Y|CUL4A_ENST00000326335.4_Silent_p.Y657Y|CUL4A_ENST00000375441.3_Silent_p.Y657Y	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	757					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.Y657Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGTACCACTACGTGGCCTGAC	0.443																																					p.Y757Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2271T	13						.						109.0	104.0	106.0					13																	113917887		2203	4300	6503	112965888	SO:0001819	synonymous_variant	8451	exon20			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.2271C>T	13.37:g.113917887C>T			112965888	NM_001008895	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	CCDS41908.1																																																																																				0.443	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	
SACS	26278	broad.mit.edu	37	13	23911376	23911376	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:23911376G>A	ENST00000382292.3	-	9	6912	c.6639C>T	c.(6637-6639)atC>atT	p.I2213I	SACS_ENST00000402364.1_Silent_p.I1463I|SACS_ENST00000382298.3_Silent_p.I2213I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2213					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.I2066I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAAGGAAGCGGATTGTTTGAT	0.383																																					p.I2213I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6639T	13						.						55.0	56.0	55.0					13																	23911376		2203	4299	6502	22809376	SO:0001819	synonymous_variant	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6639C>T	13.37:g.23911376G>A			22809376	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
C1QTNF9B	387911	broad.mit.edu	37	13	24471047	24471047	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:24471047G>A	ENST00000382140.2	-	3	139	c.79C>T	c.(79-81)Cac>Tac	p.H27Y	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.H27Y|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.H27Y|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.H27Y			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	27	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)		p.H27Y(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ATTCCAGGGTGCCCTTGCCTG	0.547																																					p.H27Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C79T	13						.						107.0	103.0	105.0					13																	24471047		2202	4281	6483	23369047	SO:0001583	missense	387911	exon1			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.79C>T	13.37:g.24471047G>A	ENSP00000371575:p.His27Tyr		23369047	NM_001007537	A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	g	8.618	0.890617	0.17613	.	.	ENSG00000205863	ENST00000382145;ENST00000382137;ENST00000382140;ENST00000382057	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.85	2.99	0.34606	.	0.251142	0.38164	N	0.001789	T	0.82222	0.4990	L	0.35542	1.07	0.41494	D	0.988249	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.003	T	0.69060	-0.5245	10	0.02654	T	1	.	5.4286	0.16440	0.3275:0.0:0.6725:0.0	.	27;27	B2RNN3;B2RNN3-2	C1T9B_HUMAN;.	Y	27	ENSP00000371580:H27Y;ENSP00000371572:H27Y;ENSP00000371575:H27Y;ENSP00000371489:H27Y	ENSP00000371489:H27Y	H	-	1	0	C1QTNF9B	23369047	1.000000	0.71417	0.996000	0.52242	0.357000	0.29423	3.506000	0.53364	0.602000	0.29896	0.298000	0.19748	CAC		0.547	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537	
USPL1	10208	broad.mit.edu	37	13	31205574	31205574	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:31205574T>A	ENST00000255304.4	+	4	1173	c.831T>A	c.(829-831)aaT>aaA	p.N277K	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	277	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.N277K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATCAAGCAAATACACTTCTAT	0.368																																					p.N277K	Ovarian(60;318 1180 1554 28110 31601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T831A	13						.						78.0	80.0	79.0					13																	31205574		2203	4300	6503	30103574	SO:0001583	missense	10208	exon4			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.831T>A	13.37:g.31205574T>A	ENSP00000255304:p.Asn277Lys		30103574	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	T	8.496	0.863087	0.17250	.	.	ENSG00000132952	ENST00000255304	T	0.02737	4.18	5.94	0.747	0.18371	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.360549	0.35585	N	0.003118	T	0.04003	0.0112	L	0.59436	1.845	0.09310	N	1	P	0.41848	0.763	B	0.39738	0.308	T	0.31194	-0.9952	10	0.48119	T	0.1	-9.8687	10.5609	0.45144	0.0:0.315:0.0:0.685	.	277	Q5W0Q7	USPL1_HUMAN	K	277	ENSP00000255304:N277K	ENSP00000255304:N277K	N	+	3	2	USPL1	30103574	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	0.751000	0.26348	0.140000	0.18849	-0.441000	0.05720	AAT		0.368	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
HSPH1	10808	broad.mit.edu	37	13	31719802	31719802	+	Silent	SNP	C	C	T	rs370552766		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:31719802C>T	ENST00000320027.5	-	11	1826	c.1482G>A	c.(1480-1482)acG>acA	p.T494T	HSPH1_ENST00000429785.2_Silent_p.T313T|HSPH1_ENST00000380406.5_Silent_p.T453T|HSPH1_ENST00000445273.2_Silent_p.T496T|HSPH1_ENST00000380405.4_Silent_p.T494T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	494					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.T494T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CCATAGATGCCGTAGAGATGG	0.438																																					p.T494T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1482A	13						.	C		1,4405	2.1+/-5.4	0,1,2202	163.0	132.0	143.0		1482	-10.7	0.2	13		143	0,8600		0,0,4300	no	coding-synonymous	HSPH1	NM_006644.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		494/859	31719802	1,13005	2203	4300	6503	30617802	SO:0001819	synonymous_variant	10808	exon11			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1482G>A	13.37:g.31719802C>T			30617802	NM_006644	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	CCDS9340.1																																																																																				0.438	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1		
RXFP2	122042	broad.mit.edu	37	13	32332518	32332518	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:32332518A>G	ENST00000298386.2	+	2	289	c.218A>G	c.(217-219)aAc>aGc	p.N73S	RXFP2_ENST00000380314.1_Missense_Mutation_p.N73S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	73	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.N73S(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GACTGTGGGAACGGGGCGGAC	0.507																																					p.N73S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A218G	13						.						132.0	127.0	128.0					13																	32332518		2203	4300	6503	31230518	SO:0001583	missense	122042	exon2			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.218A>G	13.37:g.32332518A>G	ENSP00000298386:p.Asn73Ser		31230518	NM_001166058	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.391657	0.62066	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	D;D	0.95588	-3.75;-3.75	5.47	5.47	0.80525	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	M	0.62154	1.92	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.97273	0.9912	10	0.66056	D	0.02	.	13.5652	0.61813	1.0:0.0:0.0:0.0	.	73;73	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	S	73	ENSP00000369670:N73S;ENSP00000298386:N73S	ENSP00000298386:N73S	N	+	2	0	RXFP2	31230518	1.000000	0.71417	0.877000	0.34402	0.308000	0.27856	7.764000	0.85297	2.097000	0.63578	0.524000	0.50904	AAC		0.507	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
BRCA2	675	broad.mit.edu	37	13	32900641	32900641	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:32900641T>C	ENST00000380152.3	+	7	755	c.522T>C	c.(520-522)cgT>cgC	p.R174R	BRCA2_ENST00000544455.1_Silent_p.R174R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	174					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.R174R(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCCAGGGTCGTCAGACACCAA	0.368			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.R174R	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T522C	13						.						83.0	82.0	82.0					13																	32900641		2203	4300	6503	31798641	SO:0001819	synonymous_variant	675	exon7	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.522T>C	13.37:g.32900641T>C			31798641	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				0.368	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32913436	32913436	+	Frame_Shift_Del	DEL	A	A	-	rs80359474		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:32913436delA	ENST00000380152.3	+	11	5177	c.4944delA	c.(4942-4944)gcafs	p.A1648fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.A1648fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1648	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S1650fs*20(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAACAGCAAAAAGTCCTG	0.299			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.A1648fs	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.4944delA	13						.						34.0	36.0	35.0					13																	32913436		2203	4297	6500	31811436	SO:0001589	frameshift_variant	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4944delA	13.37:g.32913436delA	ENSP00000369497:p.Ala1648fs		31811436	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.299	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
MAB21L1	4081	broad.mit.edu	37	13	36049870	36049870	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:36049870C>A	ENST00000379919.4	-	1	962	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	136					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.V136L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GCTTGAGCCACCAGCGTCTGA	0.567																																					p.V136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406T	13						.						54.0	54.0	54.0					13																	36049870		2203	4300	6503	34947870	SO:0001583	missense	4081	exon1			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.406G>T	13.37:g.36049870C>A	ENSP00000369251:p.Val136Leu		34947870	NM_005584	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162483	0.78226	.	.	ENSG00000180660	ENST00000379919	T	0.11604	2.76	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	M	0.74881	2.28	0.80722	D	1	P	0.44521	0.837	P	0.44597	0.454	T	0.06679	-1.0813	10	0.13853	T	0.58	-11.1218	19.7375	0.96212	0.0:1.0:0.0:0.0	.	136	Q13394	MB211_HUMAN	L	136	ENSP00000369251:V136L	ENSP00000369251:V136L	V	-	1	0	MAB21L1	34947870	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GTG		0.567	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584	
SUPT20H	55578	broad.mit.edu	37	13	37603971	37603971	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:37603971C>T	ENST00000350612.6	-	13	1144	c.924G>A	c.(922-924)gtG>gtA	p.V308V	SUPT20H_ENST00000356185.3_Silent_p.V309V|SUPT20H_ENST00000360252.4_Silent_p.V309V|SUPT20H_ENST00000475892.1_Silent_p.V308V|SUPT20H_ENST00000464744.1_Silent_p.V309V|SUPT20H_ENST00000542180.1_Intron	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	308					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.V308V(1)									CATATTTCTCCACCTAAACAA	0.353																																					p.V309V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G927A	13						.						111.0	104.0	107.0					13																	37603971		2203	4300	6503	36501971	SO:0001819	synonymous_variant	55578	exon13			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.924G>A	13.37:g.37603971C>T			36501971	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	CCDS31959.1																																																																																				0.353	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
TRPC4	7223	broad.mit.edu	37	13	38266412	38266412	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:38266412C>A	ENST00000379705.3	-	4	1815	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C	TRPC4_ENST00000355779.2_Missense_Mutation_p.G320C|TRPC4_ENST00000379673.2_Missense_Mutation_p.G320C|TRPC4_ENST00000447043.1_Missense_Mutation_p.G320C|TRPC4_ENST00000338947.5_Missense_Mutation_p.G147C|TRPC4_ENST00000379679.1_Missense_Mutation_p.G147C|TRPC4_ENST00000379681.3_Missense_Mutation_p.G320C|TRPC4_ENST00000358477.2_Missense_Mutation_p.G320C|TRPC4_ENST00000426868.2_Missense_Mutation_p.G320C			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	320					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.G320C(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)		CTCCTCCAGCCTGGAAACTCA	0.458																																					p.G320C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958T	13						.						88.0	72.0	78.0					13																	38266412		2203	4300	6503	37164412	SO:0001583	missense	7223	exon4			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.958G>T	13.37:g.38266412C>A	ENSP00000369027:p.Gly320Cys		37164412	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582598	0.86748	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.92738	3.34	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	0.992;0.992;1.0;0.997;0.992;0.987	D	0.93146	0.6545	10	0.87932	D	0	-18.419	18.9249	0.92540	0.0:1.0:0.0:0.0	.	320;320;320;147;320;320	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	C	320;320;147;147;320;320;320;320;320	ENSP00000369027:G320C;ENSP00000369003:G320C;ENSP00000342580:G147C;ENSP00000369001:G147C;ENSP00000410133:G320C;ENSP00000348025:G320C;ENSP00000351264:G320C;ENSP00000368995:G320C;ENSP00000414316:G320C	ENSP00000342580:G147C	G	-	1	0	TRPC4	37164412	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	7.681000	0.84073	2.530000	0.85305	0.467000	0.42956	GGC		0.458	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FREM2	341640	broad.mit.edu	37	13	39265704	39265704	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:39265704G>A	ENST00000280481.7	+	1	4439	c.4223G>A	c.(4222-4224)cGt>cAt	p.R1408H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1408					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1408H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCATAGATCGTTACTTTTAT	0.413																																					p.R1408H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4223A	13						.						153.0	135.0	141.0					13																	39265704		2203	4300	6503	38163704	SO:0001583	missense	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4223G>A	13.37:g.39265704G>A	ENSP00000280481:p.Arg1408His		38163704	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816747	0.70912	.	.	ENSG00000150893	ENST00000280481	T	0.77229	-1.08	5.81	5.81	0.92471	.	0.047934	0.85682	D	0.000000	T	0.77519	0.4142	M	0.62723	1.935	0.80722	D	1	B	0.25850	0.136	B	0.24541	0.054	T	0.72491	-0.4277	10	0.38643	T	0.18	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	1408	Q5SZK8	FREM2_HUMAN	H	1408	ENSP00000280481:R1408H	ENSP00000280481:R1408H	R	+	2	0	FREM2	38163704	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.864000	0.99589	2.746000	0.94184	0.655000	0.94253	CGT		0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
AKAP11	11215	broad.mit.edu	37	13	42875393	42875393	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:42875393T>C	ENST00000025301.2	+	8	2686	c.2511T>C	c.(2509-2511)tgT>tgC	p.C837C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	837					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.C837C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAATATTTGTTTACCTTCAG	0.348																																					p.C837C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2511C	13						.						42.0	41.0	42.0					13																	42875393		2203	4299	6502	41773393	SO:0001819	synonymous_variant	11215	exon8			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2511T>C	13.37:g.42875393T>C			41773393	NM_016248	O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	CCDS9383.1																																																																																				0.348	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
COG3	83548	broad.mit.edu	37	13	46108843	46108843	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:46108843C>A	ENST00000349995.5	+	23	2576	c.2464C>A	c.(2464-2466)Ctt>Att	p.L822I	FAM194B_ENST00000504261.1_5'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	822					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.L822I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TCAGCTGAGCCTTCTGCTGTT	0.488																																					p.L822I	Ovarian(150;1048 1859 18083 21577 42700)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2464A	13						.						78.0	65.0	69.0					13																	46108843		2199	4295	6494	45006844	SO:0001583	missense	83548	exon23			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.2464C>A	13.37:g.46108843C>A	ENSP00000258654:p.Leu822Ile		45006844	NM_031431	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781438	0.31502	.	.	ENSG00000136152	ENST00000349995	T	0.43294	0.95	5.08	1.94	0.25998	.	0.139794	0.48286	D	0.000187	T	0.30230	0.0758	L	0.43152	1.355	0.80722	D	1	B;B	0.30851	0.018;0.297	B;B	0.31390	0.016;0.129	T	0.04255	-1.0965	10	0.15952	T	0.53	-0.0407	9.2971	0.37822	0.0:0.71:0.0:0.29	.	659;822	B4E2F3;Q96JB2	.;COG3_HUMAN	I	822	ENSP00000258654:L822I	ENSP00000258654:L822I	L	+	1	0	COG3	45006844	0.969000	0.33509	0.921000	0.36526	0.614000	0.37383	0.451000	0.21779	0.554000	0.29061	0.557000	0.71058	CTT		0.488	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2		
INTS6	26512	broad.mit.edu	37	13	51948378	51948378	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:51948378C>T	ENST00000311234.4	-	15	2542	c.2070G>A	c.(2068-2070)caG>caA	p.Q690Q	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Silent_p.Q374Q|INTS6_ENST00000398119.2_Silent_p.Q677Q|INTS6_ENST00000425000.1_Silent_p.Q258Q|INTS6_ENST00000497989.1_Silent_p.Q512Q	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	690					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.Q690Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TAAGATCTGGCTGTGCTTGAG	0.383																																					p.Q690Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2070A	13						.						166.0	156.0	159.0					13																	51948378		2203	4300	6503	50846379	SO:0001819	synonymous_variant	26512	exon15			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2070G>A	13.37:g.51948378C>T			50846379	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	37	CCDS9428.1																																																																																				0.383	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
NEK3	4752	broad.mit.edu	37	13	52725346	52725346	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:52725346G>T	ENST00000400357.2	-	6	1776	c.483C>A	c.(481-483)acC>acA	p.T161T	NEK3_ENST00000378101.2_Silent_p.T161T|NEK3_ENST00000339406.3_Silent_p.T161T|NEK3_ENST00000452082.2_Silent_p.T182T			P51956	NEK3_HUMAN	NIMA-related kinase 3	161	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T161T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TTCCCACATAGGTACAAGCAA	0.388																																					p.T161T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C483A	13						.						102.0	90.0	94.0					13																	52725346		1879	4117	5996	51623347	SO:0001819	synonymous_variant	4752	exon7			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.483C>A	13.37:g.52725346G>T			51623347	NM_001146099	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Silent	SNP	ENST00000400357.2	37	CCDS53871.1																																																																																				0.388	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		
PCDH8	5100	broad.mit.edu	37	13	53418989	53418989	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:53418989G>A	ENST00000377942.3	-	3	3122	c.2919C>T	c.(2917-2919)aaC>aaT	p.N973N	PCDH8_ENST00000338862.4_Silent_p.N876N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	973					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.N973N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ATGGATGTGCGTTGGGCCCGC	0.597																																					p.N876N	GBM(36;25 841 9273 49207)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2628T	13						.						121.0	72.0	89.0					13																	53418989		2203	4300	6503	52316990	SO:0001819	synonymous_variant	5100	exon3			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2919C>T	13.37:g.53418989G>A			52316990	NM_032949	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	CCDS9438.1																																																																																				0.597	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	
KLHL1	57626	broad.mit.edu	37	13	70681774	70681774	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:70681774T>A	ENST00000377844.4	-	1	817	c.58A>T	c.(58-60)Aaa>Taa	p.K20*	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	20					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.K20*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTGAAGAGTTTCCAGCGGAGT	0.622																																					p.K20X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A58T	13						.						26.0	31.0	29.0					13																	70681774		2203	4300	6503	69579775	SO:0001587	stop_gained	57626	exon1			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.58A>T	13.37:g.70681774T>A	ENSP00000367075:p.Lys20*		69579775	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	45	11.885173	0.99613	.	.	ENSG00000150361	ENST00000377844	.	.	.	5.39	5.39	0.77823	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	13.9908	0.64364	0.0:0.0:0.0:1.0	.	.	.	.	X	20	.	ENSP00000367075:K20X	K	-	1	0	KLHL1	69579775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.276000	0.65580	2.039000	0.60335	0.533000	0.62120	AAA		0.622	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
TBC1D4	9882	broad.mit.edu	37	13	75936168	75936168	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:75936168G>A	ENST00000377636.3	-	2	1420	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	TBC1D4_ENST00000431480.2_Silent_p.L358L|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.L358L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	358	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)	p.L358L(1)		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)		GTACCTGGAAGAGCATGGTCC	0.597																																					p.L358L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074T	13						.						76.0	81.0	80.0					13																	75936168		2140	4252	6392	74834169	SO:0001819	synonymous_variant	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.1074C>T	13.37:g.75936168G>A			74834169	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	CCDS41901.1																																																																																				0.597	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
SLAIN1	122060	broad.mit.edu	37	13	78335207	78335207	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:78335207T>C	ENST00000466548.1	+	7	1619	c.1593T>C	c.(1591-1593)agT>agC	p.S531S	SLAIN1_ENST00000351546.3_Silent_p.S268S|SLAIN1_ENST00000358679.3_Silent_p.S268S|SLAIN1_ENST00000488699.1_Silent_p.S389S|SLAIN1_ENST00000418532.1_Silent_p.S312S|SLAIN1_ENST00000314070.5_Silent_p.S154S|SLAIN1_ENST00000267219.8_Silent_p.S312S	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	531								p.S312S(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TAAATGGGAGTAACCTGCCTC	0.458																																					p.S268S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T804C	13						.						76.0	68.0	71.0					13																	78335207		2203	4300	6503	77233208	SO:0001819	synonymous_variant	122060	exon5			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1593T>C	13.37:g.78335207T>C			77233208	NM_144595	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP	ENST00000466548.1	37																																																																																					0.458	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595	
EDNRB	1910	broad.mit.edu	37	13	78492480	78492480	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:78492480T>C	ENST00000334286.5	-	1	465	c.229A>G	c.(229-231)Acg>Gcg	p.T77A	EDNRB_ENST00000446573.1_Missense_Mutation_p.T77A|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000377211.4_Missense_Mutation_p.T167A	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	77					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GATCCTGCCGTCCTGTCTCCT	0.582																																					p.T77A												.	.	0			c.A229G	13						.						104.0	103.0	103.0					13																	78492480		2203	4300	6503	77390481	SO:0001583	missense	1910	exon1			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.229A>G	13.37:g.78492480T>C	ENSP00000335311:p.Thr77Ala		77390481	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307932	0.23821	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.71341	-0.56;-0.38;-0.51	4.33	-6.97	0.01616	.	1.833440	0.02504	N	0.090808	T	0.58864	0.2152	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.44620	-0.9316	10	0.28530	T	0.3	0.7521	12.3857	0.55330	0.0:0.2684:0.6074:0.1243	.	77;167;77	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	A	167;77;77	ENSP00000366416:T167A;ENSP00000403401:T77A;ENSP00000335311:T77A	ENSP00000335311:T77A	T	-	1	0	EDNRB	77390481	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.202000	0.03023	-1.194000	0.02684	0.482000	0.46254	ACG		0.582	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
POU4F1	5457	broad.mit.edu	37	13	79177387	79177387	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:79177387C>T	ENST00000377208.5	-	1	286	c.75G>A	c.(73-75)ctG>ctA	p.L25L	RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	25					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.L25L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		AGCTGGAGTGCAGCGACGGGT	0.697																																					p.L25L	Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	13						.						125.0	99.0	108.0					13																	79177387		2203	4300	6503	78075388	SO:0001819	synonymous_variant	5457	exon1			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.75G>A	13.37:g.79177387C>T			78075388	NM_006237	Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	CCDS31996.1																																																																																				0.697	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3		
SLITRK6	84189	broad.mit.edu	37	13	86370319	86370319	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:86370319T>C	ENST00000400286.2	-	2	923	c.325A>G	c.(325-327)Aat>Gat	p.N109D		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	109					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.N109D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCAAGGCCATTAAATGCACCT	0.373																																					p.N109D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A325G	13						.						140.0	130.0	133.0					13																	86370319		1848	4087	5935	85268320	SO:0001583	missense	84189	exon2			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.325A>G	13.37:g.86370319T>C	ENSP00000383143:p.Asn109Asp		85268320	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894238	0.72639	.	.	ENSG00000184564	ENST00000400286	T	0.51574	0.7	6.17	6.17	0.99709	.	0.046399	0.85682	D	0.000000	T	0.36082	0.0954	N	0.17723	0.515	0.54753	D	0.999988	D	0.57257	0.979	B	0.44224	0.444	T	0.11717	-1.0576	10	0.19147	T	0.46	-22.6096	15.6463	0.77055	0.0:0.0:0.0:1.0	.	109	Q9H5Y7	SLIK6_HUMAN	D	109	ENSP00000383143:N109D	ENSP00000383143:N109D	N	-	1	0	SLITRK6	85268320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.955000	0.70306	2.371000	0.80710	0.533000	0.62120	AAT		0.373	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
GPR180	160897	broad.mit.edu	37	13	95271478	95271478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:95271478C>T	ENST00000376958.4	+	4	605	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	194					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q194*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATCATTGTGGCAGGCTATTAA	0.403																																					p.Q194X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C580T	13						.						185.0	177.0	180.0					13																	95271478		2203	4300	6503	94069479	SO:0001587	stop_gained	160897	exon4			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.580C>T	13.37:g.95271478C>T	ENSP00000366157:p.Gln194*		94069479	NM_180989	A8K1D5	Nonsense_Mutation	SNP	ENST00000376958.4	37	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798530	0.96960	.	.	ENSG00000152749	ENST00000376958	.	.	.	5.3	5.3	0.74995	.	0.051990	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6022	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	194	.	ENSP00000366157:Q194X	Q	+	1	0	GPR180	94069479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.111000	0.77077	2.626000	0.88956	0.650000	0.86243	CAG		0.403	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989	
MBNL2	10150	broad.mit.edu	37	13	98018722	98018722	+	Intron	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:98018722T>C	ENST00000376673.3	+	7	1775				MBNL2_ENST00000397601.1_Intron|MBNL2_ENST00000343600.4_Intron|MBNL2_ENST00000345429.6_Missense_Mutation_p.M335T|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2						mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.M335T(1)|p.M74T(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GTACCCATGATGCACAGCGCT	0.498																																					p.M335T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1004C	13						.						150.0	134.0	140.0					13																	98018722		2203	4300	6503	96816723	SO:0001627	intron_variant	10150	exon8			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.994+1297T>C	13.37:g.98018722T>C			96816723	NM_144778	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37		.	.	.	.	.	.	.	.	.	.	T	14.45	2.539050	0.45176	.	.	ENSG00000139793	ENST00000376679;ENST00000345429;ENST00000449284	T	0.48201	0.82	5.15	5.15	0.70609	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.80722	D	1	P	0.35923	0.528	B	0.33620	0.167	T	0.44967	-0.9293	8	0.54805	T	0.06	.	15.2783	0.73760	0.0:0.0:0.0:1.0	.	335	Q5VZF2-2	.	T	74;335;73	ENSP00000267287:M335T	ENSP00000267287:M335T	M	+	2	0	MBNL2	96816723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.066000	0.61787	0.455000	0.32223	ATG		0.498	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778	
FARP1	10160	broad.mit.edu	37	13	99047518	99047518	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:99047518C>T	ENST00000319562.6	+	13	1467	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	FARP1_ENST00000595437.1_Missense_Mutation_p.A401V|FARP1_ENST00000376586.2_Missense_Mutation_p.A401V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	401					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.A401V(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)			GGAGAAGGTGCCGAATCTCCA	0.627																																					p.A401V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1202T	13						.						34.0	40.0	38.0					13																	99047518		2203	4300	6503	97845519	SO:0001583	missense	10160	exon13			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.1202C>T	13.37:g.99047518C>T	ENSP00000322926:p.Ala401Val		97845519	NM_005766	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	9.560	1.118118	0.20877	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.78364	-1.17;-1.0	4.8	3.94	0.45596	.	1.287210	0.04884	N	0.448167	T	0.66906	0.2837	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52465	-0.8572	10	0.16896	T	0.51	.	3.1325	0.06428	0.1541:0.5497:0.1496:0.1466	.	401;401	Q9Y4F1;C9JME2	FARP1_HUMAN;.	V	401;106;401	ENSP00000365771:A401V;ENSP00000322926:A401V	ENSP00000322926:A401V	A	+	2	0	FARP1	97845519	0.000000	0.05858	0.039000	0.18376	0.067000	0.16453	0.963000	0.29293	2.208000	0.71279	0.462000	0.41574	GCC		0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
DOCK9	23348	broad.mit.edu	37	13	99449396	99449396	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:99449396C>A	ENST00000376460.1	-	55	6251	c.6171G>T	c.(6169-6171)aaG>aaT	p.K2057N	DOCK9_ENST00000339416.2_Missense_Mutation_p.K2044N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	2058	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K2058N(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAAAGCTCCTTCGCCATTT	0.478																																					p.R2057M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6170T	13						.						141.0	132.0	135.0					13																	99449396		1977	4161	6138	98247397	SO:0001583	missense	23348	exon54			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.6171G>T	13.37:g.99449396C>A	ENSP00000365643:p.Lys2057Asn		98247397	NM_015296	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.92|17.92	3.505969|3.505969	0.64410|0.64410	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000400228|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	.|T;T	.|0.18502	.|2.21;2.21	5.53|5.53	0.373|0.373	0.16178|0.16178	.|.	.|0.094778	.|0.64402	.|D	.|0.000001	.|T	.|0.24509	.|0.0594	L|L	0.54908|0.54908	1.71|1.71	0.80722|0.80722	D|D	1|1	.|B;B;P;B;B;B	.|0.35821	.|0.004;0.006;0.523;0.198;0.005;0.004	.|B;B;P;B;B;B	.|0.49637	.|0.068;0.043;0.617;0.346;0.031;0.026	.|T	.|0.02365	.|-1.1170	.|10	.|0.42905	.|T	.|0.14	.|.	8.3296|8.3296	0.32178|0.32178	0.0:0.4117:0.0:0.5883|0.0:0.4117:0.0:0.5883	.|.	.|763;676;2057;2058;713;675	.|B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;DOCK9_HUMAN;.;.	X|N	620|2057;2058;2050;2035;2057;965;2044;675	.|ENSP00000365643:K2057N;ENSP00000341086:K2044N	.|ENSP00000341086:K2044N	G|K	-|-	1|3	0|2	DOCK9|DOCK9	98247397|98247397	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.985000|0.985000	0.73830|0.73830	1.060000|1.060000	0.30530|0.30530	-0.121000|-0.121000	0.11787|0.11787	-0.440000|-0.440000	0.05779|0.05779	GGA|AAG		0.478	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
CLYBL	171425	broad.mit.edu	37	13	100518646	100518646	+	Missense_Mutation	SNP	G	G	T	rs147370162		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:100518646G>T	ENST00000376360.1	+	6	814	c.787G>T	c.(787-789)Gcc>Tcc	p.A263S	CLYBL_ENST00000376355.3_Missense_Mutation_p.A229S|CLYBL_ENST00000444838.2_Missense_Mutation_p.A229S|CLYBL_ENST00000376354.1_Missense_Mutation_p.A229S|CLYBL_ENST00000339105.4_Missense_Mutation_p.A263S			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	263						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.A263S(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)					AGAAGGAGCCGCCATGGGCTT	0.453																																					p.A263S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787T	13						.						64.0	64.0	64.0					13																	100518646		2203	4300	6503	99316647	SO:0001583	missense	171425	exon6			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.787G>T	13.37:g.100518646G>T	ENSP00000365538:p.Ala263Ser		99316647	NM_206808	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	G	0.983	-0.696329	0.03279	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000419700	T;T;T;T;T;T	0.45276	1.36;1.36;1.36;1.36;1.36;0.9	5.66	2.84	0.33178	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.405543	0.29861	N	0.011019	T	0.22044	0.0531	N	0.26130	0.795	0.09310	N	0.999999	B;B	0.18741	0.03;0.03	B;B	0.22386	0.039;0.026	T	0.16276	-1.0408	10	0.08599	T	0.76	-2.8042	3.9467	0.09352	0.2538:0.0:0.4835:0.2627	.	229;263	B4DU60;Q8N0X4	.;CLYBL_HUMAN	S	229;263;229;229;263;26	ENSP00000365533:A229S;ENSP00000365538:A263S;ENSP00000404768:A229S;ENSP00000365532:A229S;ENSP00000342991:A263S;ENSP00000396574:A26S	ENSP00000342991:A263S	A	+	1	0	CLYBL	99316647	0.094000	0.21725	0.963000	0.40424	0.317000	0.28152	1.345000	0.33953	1.527000	0.49086	0.585000	0.79938	GCC		0.453	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		
PCCA	5095	broad.mit.edu	37	13	100915069	100915069	+	Missense_Mutation	SNP	G	G	A	rs368047060		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:100915069G>A	ENST00000376285.1	+	10	841	c.803G>A	c.(802-804)cGt>cAt	p.R268H	PCCA_ENST00000376286.4_Missense_Mutation_p.R242H|PCCA_ENST00000376279.3_Missense_Mutation_p.R268H	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	268	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.R268H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GATAATCCTCGTCATATAGAA	0.284																																					p.R268H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G803A	13						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	98.0	114.0	108.0		803,725,803	5.2	1.0	13		108	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PCCA	NM_000282.3,NM_001127692.2,NM_001178004.1	29,29,29	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	268/729,242/703,268/682	100915069	2,12994	2199	4299	6498	99713070	SO:0001583	missense	5095	exon10			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.803G>A	13.37:g.100915069G>A	ENSP00000365462:p.Arg268His		99713070	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605438	0.87157	2.27E-4	1.16E-4	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97888	-4.59;-4.59;-4.59	5.23	5.23	0.72850	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	M	0.79343	2.45	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.965;0.978;0.953	D	0.99852	1.1073	10	0.87932	D	0	.	18.7849	0.91951	0.0:0.0:1.0:0.0	.	268;242;268	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	H	242;268;268	ENSP00000365463:R242H;ENSP00000365456:R268H;ENSP00000365462:R268H	ENSP00000365456:R268H	R	+	2	0	PCCA	99713070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.073000	0.93992	2.416000	0.81992	0.655000	0.94253	CGT		0.284	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
TMCO3	55002	broad.mit.edu	37	13	114150008	114150008	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr13:114150008G>A	ENST00000434316.2	+	2	471	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.G38R	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	38						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.G38R(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTGCACCGCGGGCGAGGGGT	0.627																																					p.G38R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	13						.						40.0	39.0	40.0					13																	114150008		2203	4300	6503	113198009	SO:0001583	missense	55002	exon2			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.112G>A	13.37:g.114150008G>A	ENSP00000389399:p.Gly38Arg		113198009	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504374	0.64410	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.34472	1.36	5.46	3.72	0.42706	.	0.158662	0.56097	D	0.000026	T	0.46908	0.1417	M	0.63428	1.95	0.28194	N	0.927648	D;D	0.64830	0.99;0.994	P;P	0.54174	0.56;0.744	T	0.45440	-0.9261	10	0.72032	D	0.01	-17.1557	11.1304	0.48343	0.0695:0.129:0.8015:0.0	.	38;38	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	R	38	ENSP00000389399:G38R	ENSP00000364540:G38R	G	+	1	0	TMCO3	113198009	1.000000	0.71417	0.011000	0.14972	0.030000	0.12068	6.047000	0.71038	0.684000	0.31448	0.555000	0.69702	GGG		0.627	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441																																					p.K58fs												.	.	4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	large_intestine(4)	c.174_175insA	14						.																																			92830946	SO:0001589	frameshift_variant	55727	exon3			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.174dupA	14.37:g.93761200_93761200dupT	ENSP00000335615:p.Lys58fs		92830945	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Ins	INS	ENST00000334746.5	37	CCDS32146.1																																																																																				0.441	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
TEP1	7011	broad.mit.edu	37	14	20854324	20854324	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:20854324C>T	ENST00000262715.5	-	20	2932	c.2892G>A	c.(2890-2892)gaG>gaA	p.E964E	TEP1_ENST00000556935.1_Silent_p.E856E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	964					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.E964E(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTGTGCGTTCTCCACCTCCC	0.542																																					p.E964E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2892A	14						.						126.0	114.0	118.0					14																	20854324		2203	4300	6503	19924164	SO:0001819	synonymous_variant	7011	exon20				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2892G>A	14.37:g.20854324C>T			19924164	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
METTL17	64745	broad.mit.edu	37	14	21464375	21464375	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:21464375A>G	ENST00000339374.6	+	12	1237	c.1004A>G	c.(1003-1005)cAt>cGt	p.H335R	METTL17_ENST00000382985.4_Missense_Mutation_p.H335R|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.H335R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	335					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.H335R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGTGTCCCCATGAACTCCCT	0.478																																					p.H335R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1004G	14						.						274.0	269.0	271.0					14																	21464375		2203	4300	6503	20534215	SO:0001583	missense	64745	exon12			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1004A>G	14.37:g.21464375A>G	ENSP00000343041:p.His335Arg		20534215	NM_022734	Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917740	0.73098	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.55413	0.52;0.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.91717	3.235	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81786	-0.0773	10	0.72032	D	0.01	.	11.804	0.52143	1.0:0.0:0.0:0.0	.	335;335;335	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	R	335	ENSP00000343041:H335R;ENSP00000372445:H335R	ENSP00000343041:H335R	H	+	2	0	METTL17	20534215	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.787000	0.62432	2.038000	0.60285	0.533000	0.62120	CAT		0.478	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734	
NDRG2	57447	broad.mit.edu	37	14	21488682	21488682	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:21488682C>A	ENST00000556147.1	-	8	1468	c.528G>T	c.(526-528)aaG>aaT	p.K176N	NDRG2_ENST00000397851.2_Missense_Mutation_p.K176N|NDRG2_ENST00000397853.3_Missense_Mutation_p.K176N|NDRG2_ENST00000397856.3_Missense_Mutation_p.K162N|NDRG2_ENST00000554143.1_Missense_Mutation_p.K162N|NDRG2_ENST00000360463.3_Missense_Mutation_p.K162N|NDRG2_ENST00000397858.1_Missense_Mutation_p.K176N|NDRG2_ENST00000397844.2_Missense_Mutation_p.K162N|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000554104.1_Missense_Mutation_p.K89N|NDRG2_ENST00000397847.2_Missense_Mutation_p.K176N|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000298687.5_Missense_Mutation_p.K176N|NDRG2_ENST00000555158.1_Missense_Mutation_p.K162N|NDRG2_ENST00000350792.3_Missense_Mutation_p.K162N|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000553503.1_Missense_Mutation_p.K162N|NDRG2_ENST00000403829.3_Missense_Mutation_p.K172N			Q9UN36	NDRG2_HUMAN	NDRG family member 2	176					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)		p.K176N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCATCCAACCCTTGGCATTGG	0.537																																					p.K162N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G486T	14						.						108.0	86.0	93.0					14																	21488682		2203	4300	6503	20558522	SO:0001583	missense	57447	exon8			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.528G>T	14.37:g.21488682C>A	ENSP00000451712:p.Lys176Asn		20558522	NM_016250	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	SNP	ENST00000556147.1	37	CCDS9565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.842069|3.842069	0.71488|0.71488	.|.	.|.	ENSG00000165795|ENSG00000165795	ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000557633;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397847;ENST00000397856;ENST00000397844;ENST00000403829;ENST00000556008;ENST00000556366;ENST00000556974;ENST00000555026;ENST00000553867;ENST00000557169;ENST00000555869;ENST00000557182;ENST00000555733;ENST00000555384;ENST00000554094;ENST00000553442|ENST00000553593	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.18810|.	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19|.	5.55|5.55	3.73|3.73	0.42828|0.42828	.|.	0.050162|.	0.85682|.	D|.	0.000000|.	T|T	0.63498|0.63498	0.2516|0.2516	M|M	0.69823|0.69823	2.125|2.125	0.49798|0.49798	D|D	0.999825|0.999825	D;D;D;D;D|.	0.69078|.	0.994;0.997;0.993;0.993;0.996|.	P;P;P;P;D|.	0.65443|.	0.87;0.893;0.794;0.794;0.935|.	T|T	0.60732|0.60732	-0.7205|-0.7205	10|5	0.35671|.	T|.	0.21|.	-22.093|-22.093	8.1351|8.1351	0.31050|0.31050	0.0:0.7524:0.0:0.2476|0.0:0.7524:0.0:0.2476	.|.	172;176;162;157;176|.	B4DE86;Q9UN36-3;Q9UN36-5;G3V3N4;Q9UN36|.	.;.;.;.;NDRG2_HUMAN|.	N|M	176;162;157;176;119;89;162;162;176;162;176;162;176;176;162;162;172;162;89;162;162;176;162;162;121;176;176;162;162|92	ENSP00000298687:K176N;ENSP00000344620:K162N;ENSP00000380956:K176N;ENSP00000450835:K119N;ENSP00000452216:K89N;ENSP00000452038:K162N;ENSP00000452306:K162N;ENSP00000380951:K176N;ENSP00000353649:K162N;ENSP00000451712:K176N;ENSP00000452006:K162N;ENSP00000380949:K176N;ENSP00000380945:K176N;ENSP00000380954:K162N;ENSP00000380943:K162N;ENSP00000385889:K172N;ENSP00000451966:K162N;ENSP00000452413:K89N;ENSP00000452362:K162N;ENSP00000451274:K162N;ENSP00000450691:K176N;ENSP00000452334:K162N;ENSP00000451105:K162N;ENSP00000450545:K121N;ENSP00000452482:K176N;ENSP00000451094:K176N;ENSP00000452278:K162N;ENSP00000450493:K162N|.	ENSP00000298687:K176N|.	K|R	-|-	3|2	2|0	NDRG2|NDRG2	20558522|20558522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.923000|0.923000	0.28757|0.28757	0.822000|0.822000	0.34565|0.34565	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.537	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		
PRMT5	10419	broad.mit.edu	37	14	23394139	23394139	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:23394139G>T	ENST00000324366.8	-	8	1111	c.888C>A	c.(886-888)gcC>gcA	p.A296A	PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Silent_p.A190A|PRMT5_ENST00000397440.4_Silent_p.A125A|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Silent_p.A235A|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000397441.2_Silent_p.A279A|PRMT5_ENST00000553897.1_Silent_p.A252A|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	296					cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.A296A(1)|p.A279A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGAGTTCATAGGCATTAGGTG	0.502																																					p.A296A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C888A	14						.						194.0	186.0	189.0					14																	23394139		2203	4300	6503	22463979	SO:0001819	synonymous_variant	10419	exon8			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.888C>A	14.37:g.23394139G>T			22463979	NM_006109	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	ENST00000324366.8	37	CCDS9579.1																																																																																				0.502	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		
CDH24	64403	broad.mit.edu	37	14	23524417	23524417	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:23524417A>G	ENST00000267383.5	-	2	439	c.347T>C	c.(346-348)gTg>gCg	p.V116A	CDH24_ENST00000397359.3_Missense_Mutation_p.V116A|CDH24_ENST00000554034.1_Missense_Mutation_p.V116A|CDH24_ENST00000487137.2_Missense_Mutation_p.V116A			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	116	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.V116A(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)		GGCCAGTAGCACATATTGCGC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V116A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T347C	14						.						76.0	80.0	78.0					14																	23524417		2203	4300	6503	22594257	SO:0001583	missense	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.347T>C	14.37:g.23524417A>G	ENSP00000267383:p.Val116Ala	764	22594257	NM_022478	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738168	0.30774	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.151343	0.44902	D	0.000415	T	0.43211	0.1237	L	0.55834	1.745	0.34566	D	0.712929	B;B;B	0.31153	0.264;0.11;0.31	B;B;B	0.36989	0.153;0.102;0.238	T	0.56535	-0.7963	10	0.46703	T	0.11	.	7.3161	0.26501	0.8919:0.0:0.1081:0.0	.	116;116;116	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	A	116	ENSP00000380517:V116A;ENSP00000434821:V116A;ENSP00000452493:V116A;ENSP00000267383:V116A	ENSP00000267383:V116A	V	-	2	0	CDH24	22594257	0.994000	0.37717	1.000000	0.80357	0.944000	0.59088	2.619000	0.46401	1.689000	0.51079	0.459000	0.35465	GTG		0.552	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	
HOMEZ	57594	broad.mit.edu	37	14	23745293	23745293	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:23745293G>A	ENST00000357460.5	-	2	1308	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	HOMEZ_ENST00000561013.1_Missense_Mutation_p.R384W|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R384W	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	382					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.R382W(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCCTCACGCCGTGCCCACTGG	0.488																																					p.R382W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1144T	14						.						101.0	105.0	104.0					14																	23745293		1970	4145	6115	22815133	SO:0001583	missense	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.1144C>T	14.37:g.23745293G>A	ENSP00000350049:p.Arg382Trp		22815133	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512512	0.64522	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	D;D	0.91894	-2.93;-2.93	5.79	5.79	0.91817	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.183272	0.35207	U	0.003374	D	0.93953	0.8064	L	0.36672	1.1	0.46874	D	0.999234	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.974	D	0.94144	0.7399	10	0.72032	D	0.01	-0.1235	17.3124	0.87213	0.0:0.0:1.0:0.0	.	384;382	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	W	382;384	ENSP00000350049:R382W;ENSP00000406579:R384W	ENSP00000350049:R382W	R	-	1	2	HOMEZ	22815133	0.944000	0.32072	1.000000	0.80357	0.991000	0.79684	2.295000	0.43576	2.899000	0.99337	0.655000	0.94253	CGG		0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
LRRC16B	90668	broad.mit.edu	37	14	24529916	24529916	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:24529916A>G	ENST00000342740.5	+	25	2295	c.2141A>G	c.(2140-2142)gAg>gGg	p.E714G	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	714						cytoplasm (GO:0005737)		p.E714G(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTGCAGGATGAGCTACTCTAC	0.622																																					p.E714G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2141G	14						.						53.0	56.0	55.0					14																	24529916		2203	4300	6503	23599756	SO:0001583	missense	90668	exon25			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2141A>G	14.37:g.24529916A>G	ENSP00000340467:p.Glu714Gly		23599756	NM_138360	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971316	0.74246	.	.	ENSG00000186648	ENST00000342740	T	0.16196	2.36	5.11	5.11	0.69529	.	0.122624	0.53938	D	0.000059	T	0.26048	0.0635	L	0.43152	1.355	0.80722	D	1	D	0.55172	0.97	P	0.54346	0.749	T	0.00611	-1.1645	10	0.46703	T	0.11	-14.5602	13.1633	0.59557	1.0:0.0:0.0:0.0	.	714	Q8ND23	LR16B_HUMAN	G	714	ENSP00000340467:E714G	ENSP00000340467:E714G	E	+	2	0	LRRC16B	23599756	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.171000	0.89675	2.271000	0.75665	0.459000	0.35465	GAG		0.622	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
TINF2	26277	broad.mit.edu	37	14	24709840	24709840	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:24709840G>T	ENST00000267415.7	-	6	1187	c.846C>A	c.(844-846)cgC>cgA	p.R282R	TINF2_ENST00000399423.4_Silent_p.R282R|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_Silent_p.R68R|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000540705.1_Silent_p.R247R	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	282			R -> H (in DKCA3 and DKCA5). {ECO:0000269|PubMed:18252230}.|R -> S (in DKCA3). {ECO:0000269|PubMed:18252230}.		negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)	p.R282R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TGACTGTGGGGCGCTCCTTAT	0.552									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																												p.R282R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C846A	14						.						72.0	70.0	70.0					14																	24709840		1962	4154	6116	23779680	SO:0001819	synonymous_variant	26277	exon6	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.846C>A	14.37:g.24709840G>T			23779680	NM_012461	B3W5Q7|Q9H904|Q9UHC2	Silent	SNP	ENST00000267415.7	37	CCDS41936.1																																																																																				0.552	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2		
CIDEB	27141	broad.mit.edu	37	14	24775269	24775269	+	Silent	SNP	G	G	A	rs142940048		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:24775269G>A	ENST00000336557.5	-	7	1713	c.411C>T	c.(409-411)gaC>gaT	p.D137D	LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000554411.1_Silent_p.D137D|CIDEB_ENST00000258807.5_Silent_p.D137D|NOP9_ENST00000267425.3_3'UTR			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	137					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)	p.D137D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GCTTGTACACGTCAAAGGTGA	0.532																																					p.D137D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	14						.	G		1,4405	2.1+/-5.4	0,1,2202	202.0	172.0	182.0		411	-4.8	0.3	14	dbSNP_134	182	0,8600		0,0,4300	no	coding-synonymous	CIDEB	NM_014430.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/220	24775269	1,13005	2203	4300	6503	23845109	SO:0001819	synonymous_variant	27141	exon6			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.411C>T	14.37:g.24775269G>A			23845109	NM_014430	D3DS73|Q546V8|Q9NNW9	Silent	SNP	ENST00000336557.5	37	CCDS32056.1																																																																																				0.532	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1		
NOVA1	4857	broad.mit.edu	37	14	26917398	26917398	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:26917398T>C	ENST00000539517.2	-	5	1608	c.1291A>G	c.(1291-1293)Aac>Gac	p.N431D	NOVA1_ENST00000465357.2_Missense_Mutation_p.N407D|NOVA1_ENST00000267422.7_Missense_Mutation_p.N309D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	434	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N431D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCAACTAAGTTTTCTGGCACT	0.438																																					p.N431D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1291G	14						.						128.0	110.0	116.0					14																	26917398		2203	4300	6503	25987238	SO:0001583	missense	4857	exon5			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1291A>G	14.37:g.26917398T>C	ENSP00000438875:p.Asn431Asp		25987238	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146535	0.37923	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.27402	1.67;1.67;1.67	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	N	0.11818	0.18	0.54753	D	0.999988	P;B;B	0.51057	0.941;0.046;0.108	D;B;B	0.71414	0.973;0.359;0.245	T	0.07616	-1.0763	10	0.02654	T	1	-23.5402	16.3593	0.83251	0.0:0.0:0.0:1.0	.	434;407;431	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	407;431;309	ENSP00000447391:N407D;ENSP00000438875:N431D;ENSP00000267422:N309D	ENSP00000267422:N309D	N	-	1	0	NOVA1	25987238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.267000	0.75376	0.383000	0.25322	AAC		0.438	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
PRKD1	5587	broad.mit.edu	37	14	30102094	30102094	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:30102094G>A	ENST00000331968.5	-	9	1602	c.1373C>T	c.(1372-1374)aCa>aTa	p.T458I	PRKD1_ENST00000415220.2_Missense_Mutation_p.T466I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.T458I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTGCTTCCTGTGTCATTCTG	0.358																																					p.T458I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1373T	14						.						160.0	149.0	153.0					14																	30102094		2203	4300	6503	29171845	SO:0001583	missense	5587	exon9				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1373C>T	14.37:g.30102094G>A	ENSP00000333568:p.Thr458Ile		29171845	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155155	0.57259	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.76316	-1.01;-1.01;-1.01	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	M	0.66939	2.045	0.80722	D	1	B	0.28760	0.221	B	0.35727	0.209	T	0.78954	-0.2000	10	0.52906	T	0.07	-22.0353	19.4402	0.94817	0.0:0.0:1.0:0.0	.	458	Q15139	KPCD1_HUMAN	I	458;466;39	ENSP00000333568:T458I;ENSP00000390535:T466I;ENSP00000447333:T39I	ENSP00000333568:T458I	T	-	2	0	PRKD1	29171845	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	9.720000	0.98763	2.665000	0.90641	0.561000	0.74099	ACA		0.358	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
SCFD1	23256	broad.mit.edu	37	14	31142521	31142521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:31142521G>T	ENST00000458591.2	+	12	1281	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*	SCFD1_ENST00000396629.2_Nonsense_Mutation_p.E260*|SCFD1_ENST00000541123.1_Nonsense_Mutation_p.E167*|SCFD1_ENST00000544052.2_Nonsense_Mutation_p.E285*|SCFD1_ENST00000421551.3_Nonsense_Mutation_p.E293*	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	352					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)	p.E352*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGAGCACAGGAAGATGAGGT	0.348																																					p.E285X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G853T	14						.						92.0	85.0	88.0					14																	31142521		2203	4300	6503	30212272	SO:0001587	stop_gained	23256	exon11			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1054G>T	14.37:g.31142521G>T	ENSP00000390783:p.Glu352*		30212272	NM_182835	A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Nonsense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	G	41	8.684663	0.98914	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-40.841	20.394	0.98981	0.0:0.0:1.0:0.0	.	.	.	.	X	352;285;293;167;260	.	ENSP00000309417:E360X	E	+	1	0	SCFD1	30212272	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.529000	0.90602	2.830000	0.97506	0.585000	0.79938	GAA		0.348	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	
FAM177A1	283635	broad.mit.edu	37	14	35522622	35522622	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:35522622C>A	ENST00000382406.3	+	3	292	c.235C>A	c.(235-237)Ctg>Atg	p.L79M	FAM177A1_ENST00000396472.1_Missense_Mutation_p.L79M|FAM177A1_ENST00000280987.4_Missense_Mutation_p.L102M			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	79								p.L79M(1)		breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						AGTTGATGGCCTGGAGAAGAA	0.378																																					p.L102M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304A	14						.						212.0	202.0	205.0					14																	35522622		2203	4300	6503	34592373	SO:0001583	missense	283635	exon2			BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 24"""	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.235C>A	14.37:g.35522622C>A	ENSP00000371843:p.Leu79Met		34592373	NM_173607	Q68CT2	Missense_Mutation	SNP	ENST00000382406.3	37	CCDS41944.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747983	0.69533	.	.	ENSG00000151327	ENST00000396472;ENST00000382406;ENST00000280987;ENST00000554794	.	.	.	5.62	4.67	0.58626	.	0.517766	0.20952	N	0.082725	T	0.48223	0.1488	L	0.47716	1.5	0.26456	N	0.975526	P;P	0.48016	0.904;0.547	P;B	0.51135	0.66;0.444	T	0.40440	-0.9563	9	0.46703	T	0.11	.	15.3182	0.74099	0.1405:0.8595:0.0:0.0	.	102;79	Q8N128-2;Q8N128	.;F177A_HUMAN	M	79;79;102;47	.	ENSP00000280987:L102M	L	+	1	2	FAM177A1	34592373	0.119000	0.22226	0.989000	0.46669	0.985000	0.73830	2.162000	0.42367	2.652000	0.90054	0.655000	0.94253	CTG		0.378	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410816.1	NM_173607	
RALGAPA1	253959	broad.mit.edu	37	14	36142118	36142118	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:36142118T>C	ENST00000389698.3	-	24	3900	c.3510A>G	c.(3508-3510)acA>acG	p.T1170T	RALGAPA1_ENST00000382366.3_Silent_p.T1183T|RALGAPA1_ENST00000258840.6_Silent_p.T1217T|RALGAPA1_ENST00000307138.6_Silent_p.T1170T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1170					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.T1170T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTAGAAATGTGTTAGAAAAT	0.249																																					p.T1170T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3510G	14						.						53.0	55.0	54.0					14																	36142118		2190	4260	6450	35211869	SO:0001819	synonymous_variant	253959	exon24			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3510A>G	14.37:g.36142118T>C			35211869	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	CCDS32065.1																																																																																				0.249	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
MBIP	51562	broad.mit.edu	37	14	36784114	36784114	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:36784114A>G	ENST00000416007.4	-	3	344	c.257T>C	c.(256-258)tTa>tCa	p.L86S	MBIP_ENST00000318473.7_Missense_Mutation_p.L86S|MBIP_ENST00000359527.7_Missense_Mutation_p.L86S|MBIP_ENST00000603913.1_5'Flank	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	86					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)	p.L86S(1)		breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AAGTTTTGCTAAAAAAGGCTG	0.323																																					p.L86S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T257C	14						.						72.0	67.0	69.0					14																	36784114		2202	4297	6499	35853865	SO:0001583	missense	51562	exon3			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.257T>C	14.37:g.36784114A>G	ENSP00000399718:p.Leu86Ser		35853865	NM_016586	Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	CCDS9658.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608697	0.46527	.	.	ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298;ENST00000553549;ENST00000556427	T;T;T	0.43688	0.94;0.94;0.94	6.15	6.15	0.99193	.	0.135040	0.53938	D	0.000060	T	0.52256	0.1723	L	0.31065	0.9	0.43480	D	0.995701	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.97;0.984;0.97	T	0.48725	-0.9010	10	0.37606	T	0.19	-4.9175	15.3596	0.74460	1.0:0.0:0.0:0.0	.	86;86;86	Q9NS73-5;Q9NS73-3;Q9NS73	.;.;MBIP1_HUMAN	S	86;86;86;93;46;65;44	ENSP00000399718:L86S;ENSP00000324444:L86S;ENSP00000352517:L86S	ENSP00000324444:L86S	L	-	2	0	MBIP	35853865	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.401000	0.59716	2.363000	0.80096	0.523000	0.50628	TTA		0.323	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586	
MIS18BP1	55320	broad.mit.edu	37	14	45711691	45711691	+	Missense_Mutation	SNP	T	T	A	rs546009721		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:45711691T>A	ENST00000310806.4	-	4	1147	c.689A>T	c.(688-690)aAt>aTt	p.N230I	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	230					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N230I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AGCCAAAAAATTTTCCTGTTC	0.333													T|||	1	0.000199681	0.0	0.0	5008	,	,		17860	0.0		0.001	False		,,,				2504	0.0				p.N230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A689T	14						.						39.0	44.0	42.0					14																	45711691		2203	4296	6499	44781441	SO:0001583	missense	55320	exon4			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.689A>T	14.37:g.45711691T>A	ENSP00000309790:p.Asn230Ile		44781441	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479075	0.26511	.	.	ENSG00000129534	ENST00000310806	T	0.26223	1.75	5.09	2.7	0.31948	.	0.889178	0.09815	N	0.752228	T	0.20901	0.0503	L	0.34521	1.04	0.09310	N	1	P	0.44578	0.838	B	0.42422	0.387	T	0.14952	-1.0454	10	0.87932	D	0	-3.42	5.5502	0.17086	0.0:0.0905:0.1736:0.736	.	230	Q6P0N0	M18BP_HUMAN	I	230	ENSP00000309790:N230I	ENSP00000309790:N230I	N	-	2	0	MIS18BP1	44781441	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	0.125000	0.15749	0.359000	0.24239	-0.346000	0.07831	AAT		0.333	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
TRIM9	114088	broad.mit.edu	37	14	51561112	51561112	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:51561112G>A	ENST00000298355.3	-	1	1667	c.546C>T	c.(544-546)tgC>tgT	p.C182C	TRIM9_ENST00000338969.5_Silent_p.C182C|TRIM9_ENST00000360392.4_Silent_p.C182C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	182					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C182C(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGCACTGTTCGCACATGACGG	0.677																																					p.C182C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C546T	14						.						31.0	29.0	29.0					14																	51561112		2203	4300	6503	50630862	SO:0001819	synonymous_variant	114088	exon1			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.546C>T	14.37:g.51561112G>A			50630862	NM_052978	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	CCDS9703.1																																																																																				0.677	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163	
TXNDC16	57544	broad.mit.edu	37	14	53004378	53004378	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:53004378T>C	ENST00000281741.4	-	5	627	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	86					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.K86E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATTTCTTCTTTGACACAATTA	0.303																																					p.K86E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A256G	14						.						92.0	89.0	90.0					14																	53004378		2191	4292	6483	52074128	SO:0001583	missense	57544	exon5			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.256A>G	14.37:g.53004378T>C	ENSP00000281741:p.Lys86Glu		52074128	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728276	0.30593	.	.	ENSG00000087301	ENST00000281741	T	0.45668	0.89	5.54	1.4	0.22301	.	0.337754	0.37348	N	0.002133	T	0.22437	0.0541	N	0.25647	0.755	0.33999	D	0.650001	B;B	0.18461	0.028;0.017	B;B	0.17433	0.018;0.015	T	0.08827	-1.0703	10	0.30078	T	0.28	-36.7018	2.1914	0.03900	0.1561:0.0867:0.1622:0.595	.	86;86	B7ZME4;Q9P2K2	.;TXD16_HUMAN	E	86	ENSP00000281741:K86E	ENSP00000281741:K86E	K	-	1	0	TXNDC16	52074128	0.061000	0.20836	0.999000	0.59377	0.715000	0.41141	-0.837000	0.04377	0.412000	0.25729	0.533000	0.62120	AAA		0.303	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	
WDHD1	11169	broad.mit.edu	37	14	55429708	55429708	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:55429708T>C	ENST00000360586.3	-	19	2558	c.2493A>G	c.(2491-2493)gaA>gaG	p.E831E	WDHD1_ENST00000421192.1_Silent_p.E708E|WDHD1_ENST00000420358.2_Silent_p.E708E|WDHD1_ENST00000359167.4_Silent_p.E349E	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	831	Glu-rich (acidic).				heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.E831E(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						cttcttcttcttcctcttcCA	0.383																																					p.E831E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2493G	14						.						56.0	57.0	57.0					14																	55429708		2203	4300	6503	54499458	SO:0001819	synonymous_variant	11169	exon19			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2493A>G	14.37:g.55429708T>C			54499458	NM_007086	C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	CCDS9721.1																																																																																				0.383	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
PELI2	57161	broad.mit.edu	37	14	56763572	56763572	+	Silent	SNP	C	C	T	rs142576970		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:56763572C>T	ENST00000267460.4	+	6	1237	c.951C>T	c.(949-951)caC>caT	p.H317H		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	317					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.H317H(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GCCACGTGCACGGGTACCACA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17531	0.0		0.001	False		,,,				2504	0.0				p.H317H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	14						.	C		0,4406		0,0,2203	60.0	52.0	55.0		951	-1.9	1.0	14	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PELI2	NM_021255.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		317/421	56763572	1,13005	2203	4300	6503	55833325	SO:0001819	synonymous_variant	57161	exon6			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.951C>T	14.37:g.56763572C>T			55833325	NM_021255	B2RDY5	Silent	SNP	ENST00000267460.4	37	CCDS9726.1																																																																																				0.617	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1		
SYT16	83851	broad.mit.edu	37	14	62550942	62550942	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:62550942C>T	ENST00000430451.2	+	5	1660	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	488					exocytosis (GO:0006887)			p.A468V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCCATCTGCGGTTTCTCAC	0.547																																					p.A488V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1463T	14						.						109.0	106.0	107.0					14																	62550942		1985	4155	6140	61620695	SO:0001583	missense	83851	exon5			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1463C>T	14.37:g.62550942C>T	ENSP00000394700:p.Ala488Val		61620695	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621573	0.46736	.	.	ENSG00000139973	ENST00000430451	T	0.04275	3.66	5.44	4.55	0.56014	.	0.263223	0.35805	N	0.002963	T	0.05181	0.0138	L	0.36672	1.1	0.80722	D	1	B	0.25667	0.131	B	0.18561	0.022	T	0.40813	-0.9543	10	0.33940	T	0.23	-4.7723	13.4435	0.61127	0.0:0.9243:0.0:0.0757	.	488	Q17RD7	SYT16_HUMAN	V	488	ENSP00000394700:A488V	ENSP00000394700:A488V	A	+	2	0	SYT16	61620695	0.948000	0.32251	0.999000	0.59377	0.992000	0.81027	1.992000	0.40737	1.503000	0.48686	0.643000	0.83706	GCG		0.547	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
SYNE2	23224	broad.mit.edu	37	14	64596619	64596619	+	Splice_Site	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:64596619G>T	ENST00000344113.4	+	75	14351	c.14139G>T	c.(14137-14139)gaG>gaT	p.E4713D	SYNE2_ENST00000554584.1_Splice_Site_p.E4630D|SYNE2_ENST00000394768.2_Splice_Site_p.E1098D|SYNE2_ENST00000357395.3_Splice_Site_p.E1098D|SYNE2_ENST00000358025.3_Splice_Site_p.E4713D|SYNE2_ENST00000555002.1_Splice_Site_p.E1347D|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4713				E -> G (in Ref. 1; AAL33548). {ECO:0000305}.	centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E4713D(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAAATTAGAGGTATGCCTGA	0.463																																					p.E4713D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14139T	14						.						112.0	110.0	111.0					14																	64596619		2203	4300	6503	63666372	SO:0001630	splice_region_variant	23224	exon75			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14139+1G>T	14.37:g.64596619G>T			63666372	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577542	0.45902	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.58940	1.35;1.35;1.35;0.3;1.35;1.35	5.23	5.23	0.72850	.	0.000000	0.51477	D	0.000092	T	0.74966	0.3786	M	0.65975	2.015	0.80722	D	1	D;D;D	0.71674	0.997;0.996;0.998	D;D;D	0.70487	0.968;0.954;0.969	T	0.76080	-0.3090	10	0.56958	D	0.05	.	19.1566	0.93514	0.0:0.0:1.0:0.0	.	1098;4713;4713	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	D	4713;1098;4713;4630;4630;1347;1098	ENSP00000350719:E4713D;ENSP00000349969:E1098D;ENSP00000341781:E4713D;ENSP00000452570:E4630D;ENSP00000450831:E1347D;ENSP00000378249:E1098D	ENSP00000261678:E4630D	E	+	3	2	SYNE2	63666372	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.057000	0.76669	2.621000	0.88768	0.655000	0.94253	GAG		0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Missense_Mutation
SYNE2	23224	broad.mit.edu	37	14	64669642	64669642	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:64669642C>T	ENST00000344113.4	+	100	18374	c.18162C>T	c.(18160-18162)tgC>tgT	p.C6054C	SYNE2_ENST00000555022.1_5'Flank|SYNE2_ENST00000554584.1_Silent_p.C6016C|SYNE2_ENST00000394768.2_Silent_p.C2439C|SYNE2_ENST00000357395.3_Silent_p.C2439C|SYNE2_ENST00000358025.3_Silent_p.C6054C|SYNE2_ENST00000555002.1_Silent_p.C2688C|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6054					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.C6054C(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGATGTCTGCGATGATCAAG	0.483																																					p.C6054C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C18162T	14						.						123.0	108.0	113.0					14																	64669642		2203	4300	6503	63739395	SO:0001819	synonymous_variant	23224	exon100			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18162C>T	14.37:g.64669642C>T			63739395	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.483	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64681007	64681007	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:64681007C>T	ENST00000344113.4	+	106	19364	c.19152C>T	c.(19150-19152)agC>agT	p.S6384S	SYNE2_ENST00000458046.2_Silent_p.S18S|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000555022.1_Silent_p.S262S|SYNE2_ENST00000554584.1_Silent_p.S6326S|SYNE2_ENST00000394768.2_Silent_p.S2769S|SYNE2_ENST00000357395.3_Silent_p.S2769S|SYNE2_ENST00000358025.3_Silent_p.S6384S|SYNE2_ENST00000554805.1_Silent_p.S167S|SYNE2_ENST00000555002.1_Silent_p.S3018S|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6384					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S6384S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGAGAGAGCGAGGAACCGT	0.567																																					p.S18S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	14						.						137.0	135.0	136.0					14																	64681007		2203	4300	6503	63750760	SO:0001819	synonymous_variant	23224	exon1			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19152C>T	14.37:g.64681007C>T			63750760	NM_182913	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.567	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
RDH12	145226	broad.mit.edu	37	14	68192801	68192801	+	Missense_Mutation	SNP	C	C	T	rs202126574		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:68192801C>T	ENST00000551171.1	+	6	701	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RDH12_ENST00000267502.3_Missense_Mutation_p.A126V|RDH12_ENST00000539142.1_Missense_Mutation_p.A126V	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	126			A -> V (in RP53). {ECO:0000269|PubMed:19140180}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)	p.A126V(1)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	ATCAACAATGCGGGAGTAATG	0.463																																					p.A126V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C377T	14						.						191.0	182.0	185.0					14																	68192801		2203	4300	6503	67262554	SO:0001583	missense	145226	exon6			AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.377C>T	14.37:g.68192801C>T	ENSP00000449079:p.Ala126Val		67262554	NM_152443	B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	C	36	5.745571	0.96882	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.95690	-3.78;-3.78;-3.78	6.04	6.04	0.98038	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98888	1.0772	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	126	Q96NR8	RDH12_HUMAN	V	126	ENSP00000449079:A126V;ENSP00000267502:A126V;ENSP00000438715:A126V	ENSP00000267502:A126V	A	+	2	0	RDH12	67262554	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCG		0.463	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1		
RGS6	9628	broad.mit.edu	37	14	72985109	72985109	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:72985109C>T	ENST00000553530.1	+	15	1349	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	RGS6_ENST00000556437.1_Missense_Mutation_p.A381V|RGS6_ENST00000554782.1_Missense_Mutation_p.A242V|RGS6_ENST00000343854.6_Missense_Mutation_p.A344V|RGS6_ENST00000402788.2_Missense_Mutation_p.A381V|RGS6_ENST00000404301.2_Missense_Mutation_p.A381V|RGS6_ENST00000407322.4_Missense_Mutation_p.A381V|RGS6_ENST00000553525.1_Missense_Mutation_p.A381V|RGS6_ENST00000406236.4_Missense_Mutation_p.A381V|RGS6_ENST00000355512.6_Missense_Mutation_p.A381V|RGS6_ENST00000434263.2_Missense_Mutation_p.A312V|RGS6_ENST00000555571.1_Missense_Mutation_p.A381V	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	381	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.A381V(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGGATGTGGCCAAGAGGGTA	0.507																																					p.A381V	Ovarian(143;1926 2468 21071 48641)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1142T	14						.						75.0	77.0	76.0					14																	72985109		2203	4300	6503	72054862	SO:0001583	missense	9628	exon15			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1142C>T	14.37:g.72985109C>T	ENSP00000452331:p.Ala381Val		72054862	NM_004296	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697235	0.68386	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.01918	4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56	5.41	4.52	0.55395	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.262628	0.44285	D	0.000472	T	0.03220	0.0094	L	0.43923	1.385	0.44337	D	0.997222	P;B;P;B	0.40970	0.734;0.013;0.455;0.001	B;B;B;B	0.37346	0.247;0.021;0.119;0.005	T	0.52873	-0.8517	10	0.66056	D	0.02	-1.1056	14.9624	0.71166	0.1438:0.8562:0.0:0.0	.	312;381;386;381	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	V	381;381;381;381;381;381;381;381;381;344;353;312;242;242	ENSP00000451030:A381V;ENSP00000450936:A381V;ENSP00000452331:A381V;ENSP00000451855:A381V;ENSP00000347699:A381V;ENSP00000385243:A381V;ENSP00000384218:A381V;ENSP00000384612:A381V;ENSP00000383953:A381V;ENSP00000341199:A344V;ENSP00000412144:A312V;ENSP00000451912:A242V	ENSP00000341199:A344V	A	+	2	0	RGS6	72054862	0.498000	0.26075	1.000000	0.80357	0.989000	0.77384	4.888000	0.63164	1.399000	0.46721	0.561000	0.74099	GCC		0.507	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2		
ELMSAN1	91748	broad.mit.edu	37	14	74188056	74188056	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:74188056G>A	ENST00000286523.5	-	11	3663	c.2881C>T	c.(2881-2883)Cgc>Tgc	p.R961C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R961C	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	961					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R961C(1)									CGCCTGCTGCGCTCTCGcccc	0.647																																					p.R961C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2881T	14						.						99.0	69.0	79.0					14																	74188056		2203	4300	6503	73257809	SO:0001583	missense	91748	exon11			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2881C>T	14.37:g.74188056G>A	ENSP00000286523:p.Arg961Cys		73257809	NM_001043318	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710556	0.68730	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.88	3.88	0.44766	.	0.191766	0.35615	N	0.003089	T	0.38214	0.1032	N	0.22421	0.69	0.47659	D	0.999487	D;D	0.89917	1.0;1.0	P;P	0.58928	0.848;0.848	T	0.18524	-1.0334	10	0.52906	T	0.07	-10.6169	11.097	0.48150	0.0:0.0:0.8022:0.1978	.	961;961	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	961	ENSP00000377634:R961C;ENSP00000286523:R961C;ENSP00000407767:R961C;ENSP00000402380:R961C	ENSP00000286523:R961C	R	-	1	0	C14orf43	73257809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.029000	0.30140	2.255000	0.74692	0.555000	0.69702	CGC		0.647	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
LTBP2	4053	broad.mit.edu	37	14	74975952	74975952	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:74975952T>A	ENST00000261978.4	-	22	3778	c.3392A>T	c.(3391-3393)gAc>gTc	p.D1131V	LTBP2_ENST00000556690.1_Missense_Mutation_p.D1131V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1131	Cys-rich.|EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D1131V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTCACAGGAGTCACCCAGGGG	0.652																																					p.D1131V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3392T	14						.						49.0	61.0	57.0					14																	74975952		2203	4300	6503	74045705	SO:0001583	missense	4053	exon22				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3392A>T	14.37:g.74975952T>A	ENSP00000261978:p.Asp1131Val		74045705	NM_000428	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.226|8.226	0.803531|0.803531	0.16467|0.16467	.|.	.|.	ENSG00000119681|ENSG00000119681	ENST00000261978;ENST00000556690|ENST00000556206	D;D|.	0.92249|.	-3.0;-3.0|.	5.01|5.01	-0.592|-0.592	0.11671|0.11671	EGF-like calcium-binding (2);|.	0.350261|.	0.20426|.	N|.	0.092577|.	T|.	0.22399|.	0.0540|.	N|N	0.25890|0.25890	0.77|0.77	0.26511|0.26511	N|N	0.974601|0.974601	B|.	0.12013|.	0.005|.	B|.	0.20577|.	0.03|.	T|.	0.27806|.	-1.0063|.	10|.	0.24483|.	T|.	0.36|.	.|.	4.7532|4.7532	0.13071|0.13071	0.1506:0.3935:0.0:0.4559|0.1506:0.3935:0.0:0.4559	.|.	1131|.	Q14767|.	LTBP2_HUMAN|.	V|C	1131|63	ENSP00000261978:D1131V;ENSP00000451477:D1131V|.	ENSP00000261978:D1131V|.	D|X	-|-	2|3	0|0	LTBP2|LTBP2	74045705|74045705	0.000000|0.000000	0.05858|0.05858	0.872000|0.872000	0.34217|0.34217	0.620000|0.620000	0.37586|0.37586	-1.922000|-1.922000	0.01568|0.01568	-0.164000|-0.164000	0.10927|0.10927	0.402000|0.402000	0.26972|0.26972	GAC|TGA		0.652	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
SEL1L	6400	broad.mit.edu	37	14	81953790	81953790	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:81953790C>T	ENST00000336735.4	-	16	1692	c.1576G>A	c.(1576-1578)Gct>Act	p.A526T		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	526	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A526T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGCATCTGAGCTAGGTTATAG	0.463																																					p.A526T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	14						.						73.0	71.0	72.0					14																	81953790		2203	4300	6503	81023543	SO:0001583	missense	6400	exon16				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1576G>A	14.37:g.81953790C>T	ENSP00000337053:p.Ala526Thr		81023543	NM_005065	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143847	0.77888	.	.	ENSG00000071537	ENST00000336735	T	0.53423	0.62	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);	0.106534	0.64402	D	0.000004	T	0.72669	0.3489	M	0.85630	2.765	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.78437	-0.2204	10	0.87932	D	0	.	18.4863	0.90830	0.0:1.0:0.0:0.0	.	526	Q9UBV2	SE1L1_HUMAN	T	526	ENSP00000337053:A526T	ENSP00000337053:A526T	A	-	1	0	SEL1L	81023543	1.000000	0.71417	0.310000	0.25168	0.321000	0.28281	7.487000	0.81328	2.345000	0.79718	0.561000	0.74099	GCT		0.463	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
FLRT2	23768	broad.mit.edu	37	14	86089838	86089838	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:86089838G>A	ENST00000330753.4	+	2	2747	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	FLRT2_ENST00000554746.1_Silent_p.T660T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	660					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.T660T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTGCCATACGTGACAGCCAG	0.483																																					p.T660T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1980A	14						.						155.0	159.0	158.0					14																	86089838		2142	4133	6275	85159591	SO:0001819	synonymous_variant	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1980G>A	14.37:g.86089838G>A			85159591	NM_013231	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.483	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
TDP1	55775	broad.mit.edu	37	14	90455294	90455294	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:90455294C>T	ENST00000335725.4	+	11	1427	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	TDP1_ENST00000393452.3_Missense_Mutation_p.P393S|TDP1_ENST00000357382.3_Missense_Mutation_p.P154S|TDP1_ENST00000555880.1_Missense_Mutation_p.P393S|TDP1_ENST00000393454.2_Missense_Mutation_p.P393S	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	393					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.P393S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGAGTCCTGGCCTGTCGTAGG	0.443								Repair of DNA-protein crosslinks																													p.P393S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1177T	14						.						106.0	104.0	105.0					14																	90455294		2203	4300	6503	89525047	SO:0001583	missense	55775	exon10			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1177C>T	14.37:g.90455294C>T	ENSP00000337353:p.Pro393Ser		89525047	NM_001008744	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.166105|3.166105	0.57476|0.57476	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000556063|ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880	.|T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99	5.93|5.93	5.05|5.05	0.67936|0.67936	.|.	.|0.049322	.|0.85682	.|N	.|0.000000	T|T	0.60625|0.60625	0.2283|0.2283	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.996;0.998;0.999;0.996;0.998	T|T	0.57894|0.57894	-0.7732|-0.7732	5|10	.|0.21014	.|T	.|0.42	-1.3019|-1.3019	14.7858|14.7858	0.69803|0.69803	0.0:0.9306:0.0:0.0694|0.0:0.9306:0.0:0.0694	.|.	.|393;393;393;154;393	.|G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8	.|.;.;.;.;TYDP1_HUMAN	V|S	33|393;393;393;154;393	.|ENSP00000377098:P393S;ENSP00000377099:P393S;ENSP00000337353:P393S;ENSP00000349952:P154S;ENSP00000450628:P393S	.|ENSP00000337353:P393S	A|P	+|+	2|1	0|0	TDP1|TDP1	89525047|89525047	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.180000|0.180000	0.23129|0.23129	6.929000|6.929000	0.75852|0.75852	1.529000|1.529000	0.49120|0.49120	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.443	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319	
CPSF2	53981	broad.mit.edu	37	14	92622916	92622916	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:92622916T>C	ENST00000298875.4	+	12	1821	c.1536T>C	c.(1534-1536)gaT>gaC	p.D512D		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	512					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.D512D(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AACCTATGGATCAGGATTTAT	0.318																																					p.D512D	Ovarian(78;28 1788 18702 44111)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1536C	14						.						96.0	101.0	100.0					14																	92622916		2202	4298	6500	91692669	SO:0001819	synonymous_variant	53981	exon12			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1536T>C	14.37:g.92622916T>C			91692669	NM_017437	B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	CCDS9902.1																																																																																				0.318	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		
RIN3	79890	broad.mit.edu	37	14	93125735	93125735	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:93125735C>A	ENST00000216487.7	+	7	2415	c.2256C>A	c.(2254-2256)gcC>gcA	p.A752A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	752	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A752A(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGCACAAGGCCTACTCACCTG	0.592																																					p.A752A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2256A	14						.						143.0	110.0	121.0					14																	93125735		2203	4300	6503	92195488	SO:0001819	synonymous_variant	79890	exon7			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2256C>A	14.37:g.93125735C>A			92195488	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271117	0.23221	.	.	ENSG00000100599	ENST00000556418	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	T	0.76919	0.4055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74269	-0.3720	4	.	.	.	-31.8729	20.1278	0.97990	0.0:1.0:0.0:0.0	.	.	.	.	I	269	.	.	L	+	1	2	RIN3	92195488	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.099000	0.31013	2.768000	0.95171	0.561000	0.74099	CTA		0.592	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
UNC79	57578	broad.mit.edu	37	14	94089144	94089144	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:94089144C>A	ENST00000393151.2	+	30	5565	c.5565C>A	c.(5563-5565)atC>atA	p.I1855I	UNC79_ENST00000553484.1_Silent_p.I1877I|UNC79_ENST00000256339.4_Silent_p.I1678I|UNC79_ENST00000555664.1_Silent_p.I1855I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1855					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I1678I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTCGACATCTCCTTCAACA	0.448																																					p.I1678I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5034A	14						.						79.0	74.0	75.0					14																	94089144		2203	4300	6503	93158897	SO:0001819	synonymous_variant	57578	exon30			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5565C>A	14.37:g.94089144C>A			93158897	NM_020818	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.448	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
HHIPL1	84439	broad.mit.edu	37	14	100119107	100119107	+	Missense_Mutation	SNP	G	G	A	rs200138544		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:100119107G>A	ENST00000330710.5	+	2	900	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	268					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.V268I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAGGCTCTACGTCTACTACTC	0.617																																					p.V268I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	14						.						48.0	38.0	41.0					14																	100119107		2203	4300	6503	99188860	SO:0001583	missense	84439	exon2			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.802G>A	14.37:g.100119107G>A	ENSP00000330601:p.Val268Ile		99188860	NM_032425	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.085047	0.55861	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14266	2.52;2.52	4.59	3.7	0.42460	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.074462	0.53938	N	0.000051	T	0.14614	0.0353	L	0.28344	0.845	0.49389	D	0.999785	D;P	0.57257	0.979;0.831	P;B	0.51895	0.683;0.267	T	0.06373	-1.0830	10	0.20046	T	0.44	.	12.6027	0.56506	0.081:0.0:0.919:0.0	.	268;268	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	I	268	ENSP00000330601:V268I;ENSP00000349757:V268I	ENSP00000330601:V268I	V	+	1	0	HHIPL1	99188860	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.752000	0.74898	0.919000	0.36945	-0.140000	0.14226	GTC		0.617	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566	
HSP90AA1	3320	broad.mit.edu	37	14	102549598	102549598	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:102549598G>A	ENST00000216281.8	-	9	1733	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R331C|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.R632C	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	510					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.R632C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TTCCGAAGACGTTCCACAAAG	0.418																																					p.R510C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1528T	14						.						128.0	124.0	125.0					14																	102549598		2203	4300	6503	101619351	SO:0001583	missense	3320	exon9			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1528C>T	14.37:g.102549598G>A	ENSP00000216281:p.Arg510Cys		101619351	NM_005348	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.020024	0.54576	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.10960	2.82;2.82;2.82	4.44	4.44	0.53790	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	U	0.000000	T	0.16471	0.0396	M	0.89478	3.035	0.80722	D	1	P;P;B	0.48589	0.639;0.912;0.397	B;B;B	0.35312	0.185;0.2;0.141	T	0.13176	-1.0519	10	0.87932	D	0	-14.5992	11.4864	0.50356	0.0:0.0:0.6856:0.3144	.	331;632;510	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	C	510;632;331	ENSP00000216281:R510C;ENSP00000335153:R632C;ENSP00000396189:R331C	ENSP00000216281:R510C	R	-	1	0	HSP90AA1	101619351	1.000000	0.71417	0.921000	0.36526	0.994000	0.84299	6.248000	0.72418	2.192000	0.70111	0.655000	0.94253	CGT		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348	
TRAF3	7187	broad.mit.edu	37	14	103363626	103363626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:103363626delA	ENST00000560371.1	+	9	1065	c.848delA	c.(847-849)gaafs	p.E283fs	TRAF3_ENST00000539721.1_Frame_Shift_Del_p.E200fs|TRAF3_ENST00000347662.4_Frame_Shift_Del_p.E258fs|TRAF3_ENST00000392745.2_Frame_Shift_Del_p.E283fs|TRAF3_ENST00000351691.5_Frame_Shift_Del_p.E258fs	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	283					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N285fs*38(1)|p.N285fs*13(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GAAAGTGTAGAAAAAAACAAG	0.269																																					p.E283fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.848delA	14						.						52.0	50.0	51.0					14																	103363626		2203	4300	6503	102433379	SO:0001589	frameshift_variant	7187	exon10			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.848delA	14.37:g.103363626delA	ENSP00000454207:p.Glu283fs		102433379	NM_145725	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Frame_Shift_Del	DEL	ENST00000560371.1	37	CCDS9975.1																																																																																				0.269	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr14:89878534delG	ENST00000345097.4	-	2	403	c.287delC	c.(286-288)ccafs	p.P96fs	FOXN3_ENST00000557258.1_Frame_Shift_Del_p.P96fs|RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000555353.1_Frame_Shift_Del_p.P96fs|FOXN3_ENST00000261302.5_Frame_Shift_Del_p.P96fs|RP11-33N16.3_ENST00000555070.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	96					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCAGGGGATGGGGGGGTGTC	0.592																																					p.P96fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.287delC	14						.						56.0	53.0	54.0					14																	89878534		2203	4300	6503	88948287	SO:0001589	frameshift_variant	1112	exon2				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.287delC	14.37:g.89878534delG	ENSP00000343288:p.Pro96fs		88948287	NM_001085471	Q96II7|Q9UIE7	Frame_Shift_Del	DEL	ENST00000345097.4	37	CCDS41977.1																																																																																				0.592	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	
NIPA2	81614	broad.mit.edu	37	15	23003008	23003008	+	IGR	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:23003008C>T	ENST00000337451.3	-	0	3233				CYFIP1_ENST00000313077.7_Missense_Mutation_p.P1244S|CYFIP1_ENST00000560848.1_Missense_Mutation_p.P1244S|CYFIP1_ENST00000435939.2_Missense_Mutation_p.P813S	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2							early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.P1244S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTGCTTCCAGCCGCCCATCCA	0.552																																					p.P1244S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3730T	15						.						42.0	38.0	39.0					15																	23003008		2203	4300	6503	20554449	SO:0001628	intergenic_variant	23191	exon31			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101		15.37:g.23003008C>T			20554449	NM_014608	F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070888	0.93950	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.62941	0.79;-0.01	6.17	5.26	0.73747	.	0.000000	0.64402	D	0.000002	T	0.79131	0.4394	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.82118	-0.0615	10	0.87932	D	0	-24.989	15.7563	0.78030	0.0:0.935:0.0:0.065	.	813;1244	Q7L576-2;Q7L576	.;CYFP1_HUMAN	S	1244;1246;813	ENSP00000324549:P1244S;ENSP00000405956:P813S	ENSP00000324549:P1244S	P	+	1	0	CYFIP1	20554449	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.770000	0.85390	1.626000	0.50381	0.655000	0.94253	CCG		0.552	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
NIPA2	81614	broad.mit.edu	37	15	23006306	23006306	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:23006306T>G	ENST00000337451.3	-	8	1610	c.998A>C	c.(997-999)aAt>aCt	p.N333T	NIPA2_ENST00000398013.3_Missense_Mutation_p.N333T|NIPA2_ENST00000359727.4_Missense_Mutation_p.N314T|NIPA2_ENST00000398014.2_Missense_Mutation_p.N333T|NIPA2_ENST00000539711.2_Missense_Mutation_p.N314T	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	333						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.N314T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TTCTTCATTATTATTAAGAAC	0.363																																					p.N333T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A998C	15						.						58.0	60.0	59.0					15																	23006306		2203	4300	6503	20557747	SO:0001583	missense	81614	exon7			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.998A>C	15.37:g.23006306T>G	ENSP00000337618:p.Asn333Thr		20557747	NM_001008860	F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	t	14.40	2.523679	0.44866	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.90563	-2.69;-2.69;-2.68	5.3	4.18	0.49190	.	0.443997	0.27932	N	0.017261	T	0.80082	0.4558	N	0.08118	0	0.43250	D	0.995174	B;B	0.15141	0.005;0.012	B;B	0.20384	0.029;0.024	T	0.72054	-0.4406	10	0.30854	T	0.27	-7.7218	11.0518	0.47894	0.0:0.0733:0.0:0.9267	.	314;333	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	T	333;333;314;333;314	ENSP00000337618:N333T;ENSP00000381096:N333T;ENSP00000352762:N314T	ENSP00000337618:N333T	N	-	2	0	NIPA2	20557747	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	3.755000	0.55197	0.971000	0.38288	0.533000	0.62120	AAT		0.363	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
SNURF	8926	broad.mit.edu	37	15	25207280	25207280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:25207280C>T	ENST00000577949.1	+	2	97	c.34C>T	c.(34-36)Cga>Tga	p.R12*	SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000338094.6_Nonsense_Mutation_p.R12*|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Nonsense_Mutation_p.R12*|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000551312.2_Nonsense_Mutation_p.R12*			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	12						nucleus (GO:0005634)		p.R12*(1)		breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		ACACCTGAGACGAACTACAGA	0.438																																					p.R12X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C34T	15						.						142.0	120.0	127.0					15																	25207280		2203	4300	6503	22758373	SO:0001587	stop_gained	6638	exon2				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.34C>T	15.37:g.25207280C>T	ENSP00000463201:p.Arg12*		22758373	NM_005678	A6NCW2	De_novo_Start_OutOfFrame	SNP	ENST00000577949.1	37	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.956960	0.92726	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.76	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-4.1271	8.5255	0.33302	0.2303:0.7697:0.0:0.0	.	.	.	.	X	12	.	ENSP00000336543:R12X	R	+	1	2	SNURF	22758373	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	0.481000	0.22260	1.131000	0.42111	0.655000	0.94253	CGA		0.438	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678	
ATP10A	57194	broad.mit.edu	37	15	25925963	25925963	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:25925963T>G	ENST00000356865.6	-	19	3783	c.3672A>C	c.(3670-3672)aaA>aaC	p.K1224N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1224					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K1224N(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTACCCAGGTTTTGGTTTCAA	0.557																																					p.K1224N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3672C	15						.						110.0	110.0	110.0					15																	25925963		2203	4300	6503	23477056	SO:0001583	missense	57194	exon19			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3672A>C	15.37:g.25925963T>G	ENSP00000349325:p.Lys1224Asn		23477056	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719409	0.48728	.	.	ENSG00000206190	ENST00000356865	D	0.88664	-2.41	5.49	3.33	0.38152	.	0.282760	0.43416	D	0.000567	D	0.82664	0.5086	L	0.45137	1.4	0.46631	D	0.999134	B	0.21753	0.06	B	0.25291	0.059	T	0.77172	-0.2685	10	0.48119	T	0.1	-17.0178	6.0681	0.19873	0.0:0.2421:0.0:0.7579	.	1224	O60312	AT10A_HUMAN	N	1224	ENSP00000349325:K1224N	ENSP00000349325:K1224N	K	-	3	2	ATP10A	23477056	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	1.332000	0.33805	1.054000	0.40438	0.533000	0.62120	AAA		0.557	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
RYR3	6263	broad.mit.edu	37	15	33765647	33765647	+	Missense_Mutation	SNP	G	G	A	rs201612485	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:33765647G>A	ENST00000389232.4	+	2	149	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	RYR3_ENST00000415757.3_Missense_Mutation_p.A27T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	27					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.A27T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCAGTGCATCGCCACCATTCA	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001				p.A27T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79A	15						.						107.0	110.0	109.0					15																	33765647		2094	4217	6311	31552939	SO:0001583	missense	6263	exon2				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.79G>A	15.37:g.33765647G>A	ENSP00000373884:p.Ala27Thr		31552939	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.00	3.526215	0.64860	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98474	-4.95;-4.95	4.86	3.95	0.45737	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.138902	0.47455	N	0.000229	D	0.96269	0.8783	M	0.66939	2.045	0.51012	D	0.999902	P;P	0.50528	0.936;0.925	B;B	0.37451	0.196;0.25	D	0.94920	0.8072	10	0.49607	T	0.09	.	12.1928	0.54280	0.0843:0.0:0.9157:0.0	.	27;27	Q15413-2;Q15413	.;RYR3_HUMAN	T	27	ENSP00000373884:A27T;ENSP00000399610:A27T	ENSP00000354735:A27T	A	+	1	0	RYR3	31552939	1.000000	0.71417	0.256000	0.24389	0.944000	0.59088	5.115000	0.64655	1.263000	0.44181	-0.145000	0.13849	GCC		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34040430	34040430	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:34040430A>G	ENST00000389232.4	+	54	8175	c.8105A>G	c.(8104-8106)gAg>gGg	p.E2702G	RYR3_ENST00000415757.3_Missense_Mutation_p.E2702G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2702	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E2702G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGGAAAATGAGAAGCTTCGA	0.582																																					p.E2702G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8105G	15						.						70.0	76.0	74.0					15																	34040430		1954	4151	6105	31827722	SO:0001583	missense	6263	exon54				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8105A>G	15.37:g.34040430A>G	ENSP00000373884:p.Glu2702Gly		31827722	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967579	0.53507	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96716	-4.1;-4.1	5.18	5.18	0.71444	.	0.057310	0.64402	D	0.000002	D	0.90092	0.6905	N	0.08118	0	0.80722	D	1	P;B	0.35033	0.481;0.208	B;B	0.32465	0.146;0.09	D	0.89710	0.3911	10	0.29301	T	0.29	.	15.191	0.73044	1.0:0.0:0.0:0.0	.	2702;2702	Q15413-2;Q15413	.;RYR3_HUMAN	G	2702	ENSP00000373884:E2702G;ENSP00000399610:E2702G	ENSP00000354735:E2702G	E	+	2	0	RYR3	31827722	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.761000	0.91691	2.164000	0.68074	0.533000	0.62120	GAG		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34118903	34118903	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:34118903C>T	ENST00000389232.4	+	84	11265	c.11195C>T	c.(11194-11196)aCg>aTg	p.T3732M	RYR3_ENST00000415757.3_Missense_Mutation_p.T3727M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3732					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.T3731M(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACGAGTTCACGCGTGATCTC	0.423																																					p.T3732M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11195T	15						.						173.0	166.0	168.0					15																	34118903		1952	4145	6097	31906195	SO:0001583	missense	6263	exon84				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11195C>T	15.37:g.34118903C>T	ENSP00000373884:p.Thr3732Met		31906195	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583902	0.86748	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.95272	-3.66	5.15	5.15	0.70609	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.95208	0.8323	10	0.34782	T	0.22	.	18.8209	0.92097	0.0:1.0:0.0:0.0	.	3727;3732	Q15413-2;Q15413	.;RYR3_HUMAN	M	3732;3731;3728	ENSP00000373884:T3732M	ENSP00000354735:T3728M	T	+	2	0	RYR3	31906195	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.278000	0.78587	2.677000	0.91161	0.650000	0.86243	ACG		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
ZNF770	54989	broad.mit.edu	37	15	35274108	35274108	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:35274108T>C	ENST00000356321.4	-	3	1872	c.1528A>G	c.(1528-1530)Aaa>Gaa	p.K510E		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	510					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.K510E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTAAAAGATTTCCCACAAATA	0.348																																					p.K510E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1528G	15						.						54.0	56.0	55.0					15																	35274108		2201	4298	6499	33061400	SO:0001583	missense	54989	exon3			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1528A>G	15.37:g.35274108T>C	ENSP00000348673:p.Lys510Glu		33061400	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669130	0.67814	.	.	ENSG00000198146	ENST00000356321	T	0.60040	0.22	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.76190	0.3953	M	0.78801	2.425	0.40835	D	0.983624	D	0.89917	1.0	D	0.97110	1.0	T	0.80502	-0.1354	10	0.72032	D	0.01	-10.3986	15.0427	0.71803	0.0:0.0:0.0:1.0	.	510	Q6IQ21	ZN770_HUMAN	E	510	ENSP00000348673:K510E	ENSP00000348673:K510E	K	-	1	0	ZNF770	33061400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.038000	0.70964	2.138000	0.66242	0.383000	0.25322	AAA		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
MEIS2	4212	broad.mit.edu	37	15	37390258	37390258	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:37390258C>T	ENST00000561208.1	-	2	573	c.155G>A	c.(154-156)gGc>gAc	p.G52D	MEIS2_ENST00000338564.5_Missense_Mutation_p.G52D|MEIS2_ENST00000444725.1_Missense_Mutation_p.G52D|MEIS2_ENST00000424352.2_Missense_Mutation_p.G52D|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000557796.2_Missense_Mutation_p.G39D|MEIS2_ENST00000382766.2_Missense_Mutation_p.G52D|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000559561.1_Missense_Mutation_p.G52D|MEIS2_ENST00000559085.1_Missense_Mutation_p.G39D|MEIS2_ENST00000340545.5_Missense_Mutation_p.G39D|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000397624.3_5'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	52					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G52D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGCGTGCGCGCCGTAGTGCTG	0.662																																					p.G52D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155A	15						.						55.0	57.0	56.0					15																	37390258		2201	4297	6498	35177550	SO:0001583	missense	4212	exon2			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.155G>A	15.37:g.37390258C>T	ENSP00000453793:p.Gly52Asp		35177550	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657023	0.96724	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;D	0.87256	1.37;1.37;1.37;1.37;1.37;-2.23	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.90007	0.6880	L	0.34521	1.04	0.80722	D	1	B;D;P;P;P;B	0.89917	0.081;1.0;0.948;0.763;0.764;0.072	B;D;P;B;B;B	0.83275	0.098;0.996;0.57;0.387;0.24;0.031	D	0.87670	0.2540	10	0.25751	T	0.34	-5.9175	19.0381	0.92987	0.0:1.0:0.0:0.0	.	39;52;52;52;52;39	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	D	52;52;52;52;52;39;39	ENSP00000326296:G52D;ENSP00000341400:G52D;ENSP00000372216:G52D;ENSP00000404185:G52D;ENSP00000391887:G52D;ENSP00000339549:G39D	ENSP00000326296:G52D	G	-	2	0	MEIS2	35177550	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.708000	0.54845	2.568000	0.86640	0.655000	0.94253	GGC		0.662	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
THBS1	7057	broad.mit.edu	37	15	39874409	39874409	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:39874409A>G	ENST00000260356.5	+	3	248	c.83A>G	c.(82-84)aAc>aGc	p.N28S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	28					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.N28S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GGCGGAGACAACAGCGTGTTT	0.602																																					p.N28S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A83G	15						.						37.0	42.0	40.0					15																	39874409		2200	4297	6497	37661701	SO:0001583	missense	7057	exon3				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.83A>G	15.37:g.39874409A>G	ENSP00000260356:p.Asn28Ser		37661701	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466529	0.43839	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.76839	-1.05;0.79	5.17	1.6	0.23607	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.39407	N	0.001364	T	0.68403	0.2997	L	0.50333	1.59	0.35021	D	0.757866	B	0.12013	0.005	B	0.06405	0.002	T	0.65199	-0.6226	10	0.52906	T	0.07	-20.843	8.3683	0.32399	0.7704:0.0:0.2296:0.0	.	28	P07996	TSP1_HUMAN	S	28	ENSP00000260356:N28S;ENSP00000380720:N28S	ENSP00000260356:N28S	N	+	2	0	THBS1	37661701	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.922000	0.63404	0.105000	0.17753	0.460000	0.39030	AAC		0.602	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
GPR176	11245	broad.mit.edu	37	15	40093636	40093636	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:40093636C>T	ENST00000561100.1	-	3	2110	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Silent_p.G414G|GPR176_ENST00000543580.1_Silent_p.G370G|GPR176_ENST00000560729.1_5'Flank	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	415					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.G415G(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAAACTGTGGCCCCTGCTCTC	0.582																																					p.G415G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1245A	15						.						148.0	144.0	145.0					15																	40093636		2203	4300	6503	37880928	SO:0001819	synonymous_variant	11245	exon3			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1245G>A	15.37:g.40093636C>T			37880928	NM_007223	Q6NXF6	Silent	SNP	ENST00000561100.1	37	CCDS10051.1																																																																																				0.582	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223	
INO80	54617	broad.mit.edu	37	15	41337208	41337208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:41337208G>A	ENST00000361937.3	-	24	3225	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	INO80_ENST00000401393.3_Missense_Mutation_p.A934V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	934	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.A934V(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCTTCTGGCGCTCCCCAGGA	0.507																																					p.A934V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2801T	15						.						86.0	90.0	88.0					15																	41337208		2203	4300	6503	39124500	SO:0001583	missense	54617	exon24			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2801C>T	15.37:g.41337208G>A	ENSP00000355205:p.Ala934Val		39124500	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832632	0.32421	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90732	-2.72;-2.72	4.95	3.82	0.43975	.	0.315621	0.34802	N	0.003663	T	0.79964	0.4537	N	0.08118	0	0.21416	N	0.999691	B	0.17852	0.024	B	0.14578	0.011	T	0.67558	-0.5640	10	0.33940	T	0.23	.	12.2604	0.54647	0.0:0.0:0.1437:0.8563	.	934	Q9ULG1	INO80_HUMAN	V	934	ENSP00000355205:A934V;ENSP00000384686:A934V	ENSP00000355205:A934V	A	-	2	0	INO80	39124500	0.977000	0.34250	1.000000	0.80357	0.974000	0.67602	2.025000	0.41059	1.027000	0.39758	-0.364000	0.07487	GCG		0.507	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
EPB42	2038	broad.mit.edu	37	15	43500944	43500944	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:43500944C>T	ENST00000441366.2	-	7	1087	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000300215.3_Missense_Mutation_p.V318M|EPB42_ENST00000540029.1_Missense_Mutation_p.V210M	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	288					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.V318M(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTGGTCACCACGCGGGCAGGG	0.612																																					p.V288M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G862A	15						.						59.0	61.0	60.0					15																	43500944		2203	4299	6502	41288236	SO:0001583	missense	2038	exon7			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.862G>A	15.37:g.43500944C>T	ENSP00000396616:p.Val288Met		41288236	NM_001114134	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248599	0.39797	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.89746	-2.56;-2.56;-2.56	5.15	5.15	0.70609	Transglutaminase-like (2);	0.125321	0.53938	D	0.000048	D	0.95239	0.8456	M	0.92219	3.285	0.27753	N	0.944094	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.992;0.997	D	0.90434	0.4426	10	0.87932	D	0	-24.1292	11.7837	0.52030	0.0:0.8232:0.1768:0.0	.	210;288;318;288	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	M	318;210;288;288	ENSP00000300215:V318M;ENSP00000444699:V210M;ENSP00000396616:V288M	ENSP00000300215:V318M	V	-	1	0	EPB42	41288236	0.962000	0.33011	0.074000	0.20217	0.031000	0.12232	2.613000	0.46351	2.677000	0.91161	0.561000	0.74099	GTG		0.612	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
ZSCAN29	146050	broad.mit.edu	37	15	43653309	43653309	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:43653309C>T	ENST00000396976.2	-	5	2655	c.2521G>A	c.(2521-2523)Gca>Aca	p.A841T	ZSCAN29_ENST00000396972.1_Missense_Mutation_p.A452T|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.A451T|ZSCAN29_ENST00000562072.1_3'UTR	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	841					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.A841T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTTTCCCGTGCATGGATTTCT	0.438																																					p.A841T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2521A	15						.						94.0	97.0	96.0					15																	43653309		2201	4299	6500	41440601	SO:0001583	missense	146050	exon5			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2521G>A	15.37:g.43653309C>T	ENSP00000380174:p.Ala841Thr		41440601	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	4.757	0.140743	0.09083	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.35973	3.18;1.28	5.06	1.57	0.23409	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.527766	0.18671	N	0.134422	T	0.07188	0.0182	N	0.00566	-1.37	0.23809	N	0.996788	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34725	-0.9817	10	0.02654	T	1	-0.139	3.2335	0.06756	0.1753:0.211:0.0:0.6137	.	452;841	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	T	841;452	ENSP00000380174:A841T;ENSP00000380170:A452T	ENSP00000380170:A452T	A	-	1	0	ZSCAN29	41440601	0.995000	0.38212	0.996000	0.52242	0.996000	0.88848	0.467000	0.22035	0.106000	0.17784	0.655000	0.94253	GCA		0.438	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
ZSCAN29	146050	broad.mit.edu	37	15	43661261	43661261	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:43661261T>A	ENST00000396976.2	-	2	517	c.383A>T	c.(382-384)cAa>cTa	p.Q128L	TUBGCP4_ENST00000260383.7_5'Flank|TUBGCP4_ENST00000564079.1_5'Flank|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.Q128L|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.Q127L|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Q127L|ZSCAN29_ENST00000563508.1_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	128					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.Q128L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TAATAACTCTTGTGATGATTT	0.537																																					p.Q128L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A383T	15						.						103.0	102.0	103.0					15																	43661261		2201	4299	6500	41448553	SO:0001583	missense	146050	exon2			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.383A>T	15.37:g.43661261T>A	ENSP00000380174:p.Gln128Leu		41448553	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	T	10.82	1.456911	0.26161	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.08458	3.09;3.11	5.42	-9.21	0.00678	.	1.212820	0.06161	N	0.675885	T	0.03827	0.0108	N	0.16656	0.425	0.18873	N	0.999989	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.002;0.0	T	0.41998	-0.9477	10	0.17832	T	0.49	2.3556	7.5919	0.28025	0.1912:0.2129:0.0:0.596	.	128;127;128;128	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	L	128	ENSP00000380174:Q128L;ENSP00000380170:Q128L	ENSP00000380170:Q128L	Q	-	2	0	ZSCAN29	41448553	0.029000	0.19370	0.246000	0.24233	0.991000	0.79684	-1.747000	0.01827	-1.639000	0.01527	-0.242000	0.12053	CAA		0.537	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
ZSCAN29	146050	broad.mit.edu	37	15	43661966	43661966	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:43661966G>A	ENST00000396976.2	-	1	280	c.146C>T	c.(145-147)cCg>cTg	p.P49L	TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_5'Flank|TUBGCP4_ENST00000564079.1_5'Flank|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.P49L|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.P48L|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P48L|ZSCAN29_ENST00000563508.1_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	49	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.P49L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCGCACCTCCGGCCTTAGCCA	0.557																																					p.P49L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C146T	15						.						71.0	70.0	71.0					15																	43661966		2201	4299	6500	41449258	SO:0001583	missense	146050	exon1			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.146C>T	15.37:g.43661966G>A	ENSP00000380174:p.Pro49Leu		41449258	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091222	0.55968	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.11930	2.73;2.73	4.79	4.79	0.61399	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.48767	D	0.000168	T	0.51261	0.1664	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.963;1.0;0.984;0.999	T	0.67245	-0.5719	10	0.87932	D	0	-6.6803	15.7016	0.77547	0.0:0.0:1.0:0.0	.	49;48;49;49	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	L	49	ENSP00000380174:P49L;ENSP00000380170:P49L	ENSP00000380170:P49L	P	-	2	0	ZSCAN29	41449258	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.308000	0.51896	2.632000	0.89209	0.655000	0.94253	CCG		0.557	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
GATM	2628	broad.mit.edu	37	15	45654372	45654372	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:45654372C>T	ENST00000396659.3	-	9	1546	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	403					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)	p.G403R(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	TGGAAGCCTCCTCCCAGGGAA	0.498																																					p.G403R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1207A	15						.						95.0	80.0	85.0					15																	45654372		2198	4298	6496	43441664	SO:0001583	missense	2628	exon9			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1207G>A	15.37:g.45654372C>T	ENSP00000379895:p.Gly403Arg		43441664	NM_001482	B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897816	0.91962	.	.	ENSG00000171766	ENST00000396659	D	0.87491	-2.26	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.95274	0.8467	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96089	0.9060	10	0.87932	D	0	-13.5777	17.1627	0.86808	0.0:1.0:0.0:0.0	.	403	P50440	GATM_HUMAN	R	403	ENSP00000379895:G403R	ENSP00000379895:G403R	G	-	1	0	GATM	43441664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.256000	0.78350	2.723000	0.93209	0.655000	0.94253	GGA		0.498	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482	
SPATA5L1	79029	broad.mit.edu	37	15	45706854	45706854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:45706854C>T	ENST00000305560.6	+	4	1619	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.P507L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	507						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P507L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TATGGGCCCCCTGGATGTGCT	0.498																																					p.P507L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1520T	15						.						83.0	77.0	79.0					15																	45706854		2198	4298	6496	43494146	SO:0001583	missense	79029	exon4			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1520C>T	15.37:g.45706854C>T	ENSP00000305494:p.Pro507Leu		43494146	NM_024063	C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889001	0.91814	.	.	ENSG00000171763	ENST00000305560	D	0.96104	-3.91	5.33	5.33	0.75918	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.064020	0.64402	D	0.000005	D	0.98432	0.9478	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99478	1.0947	10	0.87932	D	0	-5.9176	17.9512	0.89053	0.0:1.0:0.0:0.0	.	507	Q9BVQ7	SPA5L_HUMAN	L	507	ENSP00000305494:P507L	ENSP00000305494:P507L	P	+	2	0	SPATA5L1	43494146	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.235000	0.78143	2.639000	0.89480	0.591000	0.81541	CCT		0.498	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063	
FBN1	2200	broad.mit.edu	37	15	48773963	48773963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:48773963C>T	ENST00000316623.5	-	32	4308	c.3853G>A	c.(3853-3855)Gac>Aac	p.D1285N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1285	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D1285N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGATTCAGGTCACACTCATTG	0.363																																					p.D1285N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3853A	15						.						120.0	123.0	122.0					15																	48773963		2198	4296	6494	46561255	SO:0001583	missense	2200	exon32			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3853G>A	15.37:g.48773963C>T	ENSP00000325527:p.Asp1285Asn		46561255	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200040	0.94997	.	.	ENSG00000166147	ENST00000316623	D	0.91945	-2.94	5.55	5.55	0.83447	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.101829	0.64402	D	0.000001	D	0.91047	0.7183	N	0.25332	0.735	0.80722	D	1	P	0.45348	0.856	P	0.51055	0.657	D	0.89587	0.3825	10	0.32370	T	0.25	.	19.4528	0.94875	0.0:1.0:0.0:0.0	.	1285	P35555	FBN1_HUMAN	N	1285	ENSP00000325527:D1285N	ENSP00000325527:D1285N	D	-	1	0	FBN1	46561255	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.727000	0.84838	2.759000	0.94783	0.591000	0.81541	GAC		0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
SHC4	399694	broad.mit.edu	37	15	49254965	49254965	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:49254965A>G	ENST00000332408.4	-	1	676	c.248T>C	c.(247-249)cTg>cCg	p.L83P		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	83	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.L83P(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAAGGTGCACAGTGGGGTGGG	0.637																																					p.L83P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T248C	15						.						42.0	46.0	45.0					15																	49254965		2196	4295	6491	47042257	SO:0001583	missense	399694	exon1			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.248T>C	15.37:g.49254965A>G	ENSP00000329668:p.Leu83Pro		47042257	NM_203349	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342494	0.41498	.	.	ENSG00000185634	ENST00000332408	T	0.49432	0.78	4.91	3.79	0.43588	.	0.202471	0.26780	N	0.022534	T	0.63200	0.2491	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.64630	-0.6362	10	0.87932	D	0	-13.2456	9.9714	0.41757	0.92:0.0:0.08:0.0	.	83	Q6S5L8	SHC4_HUMAN	P	83	ENSP00000329668:L83P	ENSP00000329668:L83P	L	-	2	0	SHC4	47042257	1.000000	0.71417	0.920000	0.36463	0.989000	0.77384	4.829000	0.62737	0.913000	0.36797	0.533000	0.62120	CTG		0.637	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
USP8	9101	broad.mit.edu	37	15	50782562	50782562	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:50782562A>G	ENST00000396444.3	+	14	2412	c.2074A>G	c.(2074-2076)Acc>Gcc	p.T692A	USP8_ENST00000425032.3_Missense_Mutation_p.T586A|USP8_ENST00000433963.1_Missense_Mutation_p.T692A|USP8_ENST00000307179.4_Missense_Mutation_p.T692A	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	692					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.T692A(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACCTCCTTCCACCCCTCCAAC	0.507																																					p.T692A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2074G	15						.						118.0	111.0	113.0					15																	50782562		2196	4294	6490	48569854	SO:0001583	missense	9101	exon15			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2074A>G	15.37:g.50782562A>G	ENSP00000379721:p.Thr692Ala		48569854	NM_001128611	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.348145	0.61183	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.02494	0.0076	L	0.34521	1.04	0.58432	D	0.999999	B;B	0.28971	0.229;0.053	B;B	0.24394	0.053;0.015	T	0.59989	-0.7350	10	0.16420	T	0.52	-12.2882	16.0758	0.80967	1.0:0.0:0.0:0.0	.	586;692	B4DKA8;P40818	.;UBP8_HUMAN	A	692;692;692;586	ENSP00000379721:T692A;ENSP00000405537:T692A;ENSP00000302239:T692A;ENSP00000412682:T586A	ENSP00000302239:T692A	T	+	1	0	USP8	48569854	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.891000	0.75639	2.251000	0.74343	0.528000	0.53228	ACC		0.507	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
SPPL2A	84888	broad.mit.edu	37	15	51012294	51012294	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:51012294T>C	ENST00000261854.5	-	14	1605	c.1331A>G	c.(1330-1332)tAt>tGt	p.Y444C	SPPL2A_ENST00000559293.1_5'Flank	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	444					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.Y444C(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GCCAATAGCATAGGCTGCAAG	0.388																																					p.Y444C	Melanoma(50;790 1209 4069 22965 33125)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1331G	15						.						92.0	84.0	87.0					15																	51012294		2196	4294	6490	48799586	SO:0001583	missense	84888	exon14				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1331A>G	15.37:g.51012294T>C	ENSP00000261854:p.Tyr444Cys		48799586	NM_032802	B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959643	0.74016	.	.	ENSG00000138600	ENST00000261854	T	0.51574	0.7	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80928	-0.1163	10	0.87932	D	0	-13.9209	15.8895	0.79286	0.0:0.0:0.0:1.0	.	444	Q8TCT8	PSL2_HUMAN	C	444	ENSP00000261854:Y444C	ENSP00000261854:Y444C	Y	-	2	0	AC012100.1	48799586	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.306000	0.78905	2.156000	0.67533	0.477000	0.44152	TAT		0.388	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802	
CYP19A1	1588	broad.mit.edu	37	15	51535028	51535028	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:51535028C>T	ENST00000396402.1	-	2	235	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	CYP19A1_ENST00000559878.1_Missense_Mutation_p.V28I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.V28I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V28I|MIR4713_ENST00000582691.1_RNA|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.V28I|CYP19A1_ENST00000557858.1_Missense_Mutation_p.V28I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	28					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.V28I(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	AGGAGCAGGACTGGCATGGTG	0.458																																					p.V28I	Melanoma(142;1016 1807 39614 48966 51721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82A	15						.						164.0	139.0	148.0					15																	51535028		2196	4293	6489	49322320	SO:0001583	missense	1588	exon3			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.82G>A	15.37:g.51535028C>T	ENSP00000379683:p.Val28Ile		49322320	NM_031226	Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204762	0.22205	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.74632	-0.5;-0.5;-0.5;1.98;-0.3;-0.29;-0.86	5.54	1.32	0.21799	.	0.242451	0.42294	N	0.000724	T	0.39809	0.1092	N	0.00760	-1.21	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35773	-0.9775	10	0.22706	T	0.39	-12.5042	9.9006	0.41344	0.0:0.0704:0.5258:0.4037	.	28;28	Q8IYJ7;P11511	.;CP19A_HUMAN	I	28	ENSP00000379683:V28I;ENSP00000260433:V28I;ENSP00000379685:V28I;ENSP00000390614:V28I;ENSP00000383930:V28I;ENSP00000391139:V28I;ENSP00000384389:V28I	ENSP00000260433:V28I	V	-	1	0	CYP19A1	49322320	0.832000	0.29368	0.973000	0.42090	0.971000	0.66376	0.791000	0.26915	0.252000	0.21531	-0.414000	0.06135	GTC		0.458	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
MYO5C	55930	broad.mit.edu	37	15	52532037	52532037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:52532037C>T	ENST00000261839.7	-	21	2757	c.2596G>A	c.(2596-2598)Gca>Aca	p.A866T	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	866	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A866T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CACGCCCGTGCGTATTTCTGT	0.453																																					p.A866T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2596A	15						.						61.0	60.0	61.0					15																	52532037		1964	4156	6120	50319329	SO:0001583	missense	55930	exon21			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2596G>A	15.37:g.52532037C>T	ENSP00000261839:p.Ala866Thr		50319329	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747531	0.89663	.	.	ENSG00000128833	ENST00000261839	T	0.26660	1.72	5.43	5.43	0.79202	.	0.056783	0.64402	D	0.000001	T	0.38054	0.1026	L	0.50847	1.595	0.80722	D	1	D	0.61080	0.989	P	0.53988	0.739	T	0.02546	-1.1143	10	0.22706	T	0.39	.	18.8578	0.92260	0.0:1.0:0.0:0.0	.	866	Q9NQX4	MYO5C_HUMAN	T	866	ENSP00000261839:A866T	ENSP00000261839:A866T	A	-	1	0	MYO5C	50319329	1.000000	0.71417	0.636000	0.29352	0.928000	0.56348	5.765000	0.68834	2.544000	0.85801	0.650000	0.86243	GCA		0.453	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
UNC13C	440279	broad.mit.edu	37	15	54614190	54614190	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:54614190T>C	ENST00000260323.11	+	13	4322	c.4322T>C	c.(4321-4323)aTg>aCg	p.M1441T	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1439T|UNC13C_ENST00000545554.1_Missense_Mutation_p.M1441T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1441					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.M1441T(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCTGCCGTCATGAGCACCTTG	0.383																																					p.M1441T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4322C	15						.						73.0	69.0	70.0					15																	54614190		1904	4108	6012	52401482	SO:0001583	missense	440279	exon12			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4322T>C	15.37:g.54614190T>C	ENSP00000260323:p.Met1441Thr		52401482	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015002	0.54468	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80909	-1.42;-1.43;-1.42	5.67	5.67	0.87782	.	0.040957	0.85682	D	0.000000	D	0.87010	0.6071	L	0.60455	1.87	0.80722	D	1	B;D	0.60160	0.001;0.987	B;D	0.66196	0.005;0.942	D	0.87777	0.2609	10	0.59425	D	0.04	.	15.1454	0.72647	0.0:0.0:0.0:1.0	.	1441;1441	F5H090;Q8NB66	.;UN13C_HUMAN	T	1441;1441;1439	ENSP00000260323:M1441T;ENSP00000438156:M1441T;ENSP00000442569:M1439T	ENSP00000260323:M1441T	M	+	2	0	UNC13C	52401482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.245000	0.72398	2.171000	0.68590	0.529000	0.55759	ATG		0.383	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
RNF111	54778	broad.mit.edu	37	15	59386998	59386998	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:59386998C>T	ENST00000557998.1	+	14	3171	c.2884C>T	c.(2884-2886)Cac>Tac	p.H962Y	RNF111_ENST00000348370.4_Missense_Mutation_p.H954Y|RNF111_ENST00000559209.1_Missense_Mutation_p.H963Y|RNF111_ENST00000560080.1_3'UTR|RNF111_ENST00000434298.1_Missense_Mutation_p.H971Y|RNF111_ENST00000561186.1_Missense_Mutation_p.H971Y	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	962					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H954Y(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCCATGTATGCACCTTTTCCA	0.353																																					p.H954Y	NSCLC(72;983 1365 10746 34387 47081)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2860T	15						.						170.0	156.0	161.0					15																	59386998		2192	4291	6483	57174290	SO:0001583	missense	54778	exon14			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2884C>T	15.37:g.59386998C>T	ENSP00000452732:p.His962Tyr		57174290	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820326	0.71028	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	D;T	0.98012	-4.66;-0.18	5.86	5.86	0.93980	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.99475	4.585	0.80722	D	1	D;D;D	0.59767	0.983;0.983;0.986	P;P;P	0.53593	0.636;0.685;0.73	D	0.98808	1.0742	10	0.87932	D	0	-12.1023	20.1931	0.98233	0.0:1.0:0.0:0.0	.	971;962;954	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Y	954;971	ENSP00000288199:H954Y;ENSP00000393641:H971Y	ENSP00000288199:H954Y	H	+	1	0	RNF111	57174290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	CAC		0.353	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
TPM1	7168	broad.mit.edu	37	15	63362098	63362098	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:63362098C>T	ENST00000334895.5	+	8	904	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	TPM1_ENST00000404484.4_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000317516.7_Missense_Mutation_p.R232C|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559556.1_Intron|RP11-244F12.2_ENST00000558905.1_RNA	NM_001018008.1	NP_001018008.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	268					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.R232C(1)		endometrium(1)|large_intestine(1)|lung(2)	4						TGAGCAAAATCGCCGCCTCAC	0.468																																					p.R232C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C694T	15						.						100.0	93.0	96.0					15																	63362098		2203	4300	6503	61149151	SO:0001583	missense	7168	exon8			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000334895.5:c.694C>T	15.37:g.63362098C>T	ENSP00000334624:p.Arg232Cys		61149151	NM_001018008	B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000334895.5	37	CCDS32264.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378803	0.82682	.	.	ENSG00000140416	ENST00000404484;ENST00000334895	D	0.97430	-4.38	6.07	6.07	0.98685	.	.	.	.	.	D	0.94676	0.8283	N	0.05467	-0.045	0.38681	D	0.952531	D;D	0.61697	0.97;0.99	P;P	0.55161	0.77;0.636	D	0.95396	0.8486	9	0.72032	D	0.01	.	13.1669	0.59575	0.1692:0.8308:0.0:0.0	.	232;232	D9YZV7;Q1ZYL5	.;.	C	290;232	ENSP00000334624:R232C	ENSP00000334624:R232C	R	+	1	0	TPM1	61149151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.811000	0.55620	2.884000	0.98904	0.655000	0.94253	CGC		0.468	TPM1-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417095.3	NM_001018004	
HERC1	8925	broad.mit.edu	37	15	64026991	64026991	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:64026991G>A	ENST00000443617.2	-	13	2665	c.2578C>T	c.(2578-2580)Cgg>Tgg	p.R860W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	860					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R860W(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATTCCATCCGTTCTCGTAAT	0.403																																					p.R860W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2578T	15						.						92.0	82.0	85.0					15																	64026991		1879	4109	5988	61814044	SO:0001583	missense	8925	exon13			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2578C>T	15.37:g.64026991G>A	ENSP00000390158:p.Arg860Trp		61814044	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506162	0.85282	.	.	ENSG00000103657	ENST00000443617	T	0.50277	0.75	5.59	5.59	0.84812	.	0.000000	0.64402	U	0.000004	T	0.64702	0.2622	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.66862	-0.5816	10	0.87932	D	0	.	12.6555	0.56786	0.0:0.0:0.7236:0.2764	.	860	Q15751	HERC1_HUMAN	W	860	ENSP00000390158:R860W	ENSP00000390158:R860W	R	-	1	2	HERC1	61814044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.830000	0.62745	2.612000	0.88384	0.655000	0.94253	CGG		0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
PLEKHO2	80301	broad.mit.edu	37	15	65157748	65157748	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:65157748G>T	ENST00000323544.4	+	6	1262	c.1134G>T	c.(1132-1134)tgG>tgT	p.W378C	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	378	Pro-rich.							p.W378C(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGCCCCCCTGGGACCTGCCAC	0.637																																					p.W328C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G984T	15						.						76.0	75.0	75.0					15																	65157748		2202	4299	6501	62944801	SO:0001583	missense	80301	exon5			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1134G>T	15.37:g.65157748G>T	ENSP00000326706:p.Trp378Cys		62944801	NM_001195059	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	8.862	0.947076	0.18356	.	.	ENSG00000241839	ENST00000323544	T	0.29655	1.56	5.22	3.32	0.38043	.	2.391390	0.01154	N	0.006495	T	0.25044	0.0608	N	0.24115	0.695	0.24756	N	0.992955	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17018	-1.0383	10	0.52906	T	0.07	.	6.9656	0.24621	0.0887:0.0:0.7368:0.1745	.	328;378	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	C	378	ENSP00000326706:W378C	ENSP00000326706:W378C	W	+	3	0	PLEKHO2	62944801	0.006000	0.16342	0.484000	0.27391	0.166000	0.22503	0.659000	0.24994	1.173000	0.42796	0.655000	0.94253	TGG		0.637	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201	
SMAD3	4088	broad.mit.edu	37	15	67482773	67482773	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:67482773C>A	ENST00000327367.4	+	9	1487	c.1177C>A	c.(1177-1179)Ccc>Acc	p.P393T	SMAD3_ENST00000540846.2_Missense_Mutation_p.P288T|SMAD3_ENST00000537194.2_Missense_Mutation_p.P198T|SMAD3_ENST00000439724.3_Missense_Mutation_p.P349T	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	393	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P393T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GACCAGTACCCCCTGCTGGAT	0.527																																					p.P349T												SMAD3,large_intestine,colon,Substitution - Missense,-1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1045A	15						.						61.0	59.0	60.0					15																	67482773		2201	4299	6500	65269827	SO:0001583	missense	4088	exon9			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1177C>A	15.37:g.67482773C>A	ENSP00000332973:p.Pro393Thr		65269827	NM_001145103	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777281	0.90195	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53	5.14	5.14	0.70334	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96529	0.9391	10	0.87932	D	0	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	349;393	B7Z4Z5;P84022	.;SMAD3_HUMAN	T	393;393;288;349;198	ENSP00000332973:P393T;ENSP00000437757:P288T;ENSP00000401133:P349T;ENSP00000445348:P198T	ENSP00000332973:P393T	P	+	1	0	SMAD3	65269827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.723000	0.84788	2.401000	0.81631	0.561000	0.74099	CCC		0.527	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	
CORO2B	10391	broad.mit.edu	37	15	69003177	69003177	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:69003177C>T	ENST00000566799.1	+	4	469	c.440C>T	c.(439-441)cCc>cTc	p.P147L	CORO2B_ENST00000261861.5_Missense_Mutation_p.P142L|CORO2B_ENST00000540068.1_Missense_Mutation_p.P142L|CORO2B_ENST00000543950.1_Missense_Mutation_p.P142L			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	147					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.P147L(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGTGGCACCCCACCACCAAC	0.637																																					p.P147L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440T	15						.						41.0	38.0	39.0					15																	69003177		2200	4297	6497	66790231	SO:0001583	missense	10391	exon4			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.440C>T	15.37:g.69003177C>T	ENSP00000454783:p.Pro147Leu		66790231	NM_006091	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	34	5.401420	0.96030	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.71222	-0.55;-0.55	5.56	5.56	0.83823	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	0.88683	0.6503	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91255	0.5032	10	0.87932	D	0	-26.492	18.5079	0.90904	0.0:1.0:0.0:0.0	.	147	Q9UQ03	COR2B_HUMAN	L	147;142;142	ENSP00000446250:P142L;ENSP00000443819:P142L	ENSP00000261861:P147L	P	+	2	0	CORO2B	66790231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.608000	0.88229	0.561000	0.74099	CCC		0.637	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
KIF23	9493	broad.mit.edu	37	15	69714771	69714771	+	Missense_Mutation	SNP	G	G	A	rs372880878		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:69714771G>A	ENST00000260363.4	+	6	677	c.560G>A	c.(559-561)aGc>aAc	p.S187N	KIF23_ENST00000395392.2_Missense_Mutation_p.S187N|KIF23_ENST00000558585.1_5'Flank|KIF23_ENST00000352331.4_Missense_Mutation_p.S187N|KIF23_ENST00000537891.1_5'Flank|KIF23_ENST00000559279.1_Missense_Mutation_p.S187N	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	187	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.S187N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ACTTCTTCTAGCAAGTAAGTA	0.398																																					p.S187N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G560A	15						.	A	ASN/SER,ASN/SER	0,4398		0,0,2199	89.0	89.0	89.0		560,560	0.8	0.3	15		89	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	KIF23	NM_004856.5,NM_138555.2	46,46	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	187/857,187/961	69714771	1,12993	2199	4298	6497	67501825	SO:0001583	missense	9493	exon6			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.560G>A	15.37:g.69714771G>A	ENSP00000260363:p.Ser187Asn		67501825	NM_004856	Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	g	5.582	0.292108	0.10567	0.0	1.16E-4	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.74947	-0.89;-0.85;-0.89	5.01	0.793	0.18632	Kinesin, motor domain (3);	0.450131	0.27856	N	0.017563	T	0.56140	0.1965	L	0.41710	1.295	0.80722	D	1	B;B	0.26258	0.145;0.001	B;B	0.21708	0.036;0.009	T	0.31081	-0.9956	10	0.17832	T	0.49	.	4.4694	0.11704	0.1481:0.1235:0.6015:0.1269	.	187;187	Q02241-2;Q02241	.;KIF23_HUMAN	N	187	ENSP00000260363:S187N;ENSP00000304978:S187N;ENSP00000378790:S187N	ENSP00000260363:S187N	S	+	2	0	KIF23	67501825	0.979000	0.34478	0.350000	0.25708	0.114000	0.19823	1.308000	0.33528	0.211000	0.20683	-0.185000	0.12909	AGC		0.398	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
TMEM202	338949	broad.mit.edu	37	15	72699530	72699530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:72699530G>A	ENST00000341689.3	+	4	645	c.591G>A	c.(589-591)tgG>tgA	p.W197*	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	197						integral component of membrane (GO:0016021)		p.W197*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATCTTAACTGGTGCAGTGACA	0.478																																					p.W197X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G591A	15						.						218.0	179.0	192.0					15																	72699530		2199	4297	6496	70486584	SO:0001587	stop_gained	338949	exon4				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.591G>A	15.37:g.72699530G>A	ENSP00000340212:p.Trp197*		70486584	NM_001080462		Nonsense_Mutation	SNP	ENST00000341689.3	37	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583837	0.65992	.	.	ENSG00000187806	ENST00000341689	.	.	.	4.83	2.82	0.32997	.	0.416504	0.20988	N	0.082099	.	.	.	.	.	.	0.20403	N	0.999909	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2479	9.4937	0.38976	0.0:0.0:0.6145:0.3855	.	.	.	.	X	197	.	ENSP00000340212:W197X	W	+	3	0	TMEM202	70486584	1.000000	0.71417	0.057000	0.19452	0.569000	0.35902	1.490000	0.35573	0.550000	0.28991	0.561000	0.74099	TGG		0.478	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	
NEO1	4756	broad.mit.edu	37	15	73409116	73409116	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:73409116T>C	ENST00000339362.5	+	3	813	c.366T>C	c.(364-366)ccT>ccC	p.P122P	NEO1_ENST00000558964.1_Silent_p.P122P|NEO1_ENST00000261908.6_Silent_p.P122P|NEO1_ENST00000560262.1_Silent_p.P122P			Q92859	NEO1_HUMAN	neogenin 1	122	Ig-like C2-type 1.				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.P122P(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						ACAATAAACCTGATGAAGGTT	0.388																																					p.P122P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T366C	15						.						119.0	120.0	120.0					15																	73409116		2198	4297	6495	71196169	SO:0001819	synonymous_variant	4756	exon2			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.366T>C	15.37:g.73409116T>C			71196169	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	CCDS10247.1																																																																																				0.388	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
REC114	283677	broad.mit.edu	37	15	73735612	73735612	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:73735612G>A	ENST00000331090.6	+	1	114	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.C29Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		29					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.C29Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TACGCCCGCTGCATACCCTCA	0.642																																					p.C29Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G86A	15						.						17.0	24.0	22.0					15																	73735612		2067	4190	6257	71522665	SO:0001583	missense	283677	exon1																														ENST00000331090.6:c.86G>A	15.37:g.73735612G>A	ENSP00000328423:p.Cys29Tyr		71522665	NM_001042367		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	1.517	-0.547847	0.04024	.	.	ENSG00000183324	ENST00000331090	T	0.41065	1.01	3.45	1.07	0.20283	.	0.123587	0.56097	N	0.000035	T	0.22044	0.0531	N	0.22421	0.69	0.25256	N	0.98963	B	0.18610	0.029	B	0.14023	0.01	T	0.09185	-1.0686	10	0.31617	T	0.26	.	3.7132	0.08428	0.2277:0.0:0.2271:0.5452	.	29	Q7Z4M0	CO060_HUMAN	Y	29	ENSP00000328423:C29Y	ENSP00000328423:C29Y	C	+	2	0	C15orf60	71522665	0.997000	0.39634	0.974000	0.42286	0.052000	0.14988	0.218000	0.17622	0.201000	0.20466	-0.367000	0.07326	TGC		0.642	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		
SCAPER	49855	broad.mit.edu	37	15	77067213	77067213	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:77067213G>T	ENST00000563290.1	-	9	1113	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	SCAPER_ENST00000324767.7_Missense_Mutation_p.L340I|SCAPER_ENST00000562890.1_5'Flank|SCAPER_ENST00000538941.2_Missense_Mutation_p.L94I			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	340						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L340I(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTTTCGGCAAGAGGATGGTCA	0.368																																					p.L94I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280A	15						.						78.0	76.0	77.0					15																	77067213		1842	4087	5929	74854268	SO:0001583	missense	49855	exon9			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1018C>A	15.37:g.77067213G>T	ENSP00000454973:p.Leu340Ile		74854268	NM_001145923	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020562	0.54576	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25579	1.83;1.79	5.68	5.68	0.88126	.	0.351731	0.28630	N	0.014679	T	0.45617	0.1351	M	0.67953	2.075	0.31363	N	0.681164	D;P;P	0.67145	0.996;0.804;0.646	P;B;B	0.58130	0.833;0.307;0.292	T	0.47433	-0.9118	10	0.37606	T	0.19	.	17.9488	0.89046	0.0:0.0:1.0:0.0	.	340;355;94	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	I	340;94;356	ENSP00000326924:L340I;ENSP00000442190:L94I	ENSP00000303560:L356I	L	-	1	0	SCAPER	74854268	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.747000	0.62141	2.676000	0.91093	0.591000	0.81541	CTT		0.368	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
LINGO1	84894	broad.mit.edu	37	15	77906539	77906539	+	Silent	SNP	G	G	A	rs375633103		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:77906539G>A	ENST00000355300.6	-	2	1884	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	LINGO1_ENST00000561030.1_Silent_p.G564G	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	570					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G564G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGAGGACGACGCCCAGGAAAG	0.597																																					p.G570G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1710T	15						.	G		2,4290		0,2,2144	108.0	116.0	113.0		1710	0.1	1.0	15		113	0,8514		0,0,4257	no	coding-synonymous	LINGO1	NM_032808.5		0,2,6401	AA,AG,GG		0.0,0.0466,0.0156		570/621	77906539	2,12804	2146	4257	6403	75693594	SO:0001819	synonymous_variant	84894	exon2			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1710C>T	15.37:g.77906539G>A			75693594	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	CCDS45313.1																																																																																				0.597	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
IREB2	3658	broad.mit.edu	37	15	78780627	78780627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:78780627G>A	ENST00000258886.8	+	15	2049	c.1900G>A	c.(1900-1902)Gct>Act	p.A634T		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	634					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.A634T(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTAGTGGTAGCTTATGCCAT	0.378																																					p.A634T	NSCLC(200;764 2208 35157 49871 50830)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1900A	15						.						147.0	146.0	146.0					15																	78780627		2196	4293	6489	76567682	SO:0001583	missense	3658	exon15			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1900G>A	15.37:g.78780627G>A	ENSP00000258886:p.Ala634Thr		76567682	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574941	0.96553	.	.	ENSG00000136381	ENST00000258886	T	0.66099	-0.19	5.4	5.4	0.78164	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.86920	0.6049	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91209	0.4997	10	0.87932	D	0	.	19.1868	0.93647	0.0:0.0:1.0:0.0	.	634	P48200	IREB2_HUMAN	T	634	ENSP00000258886:A634T	ENSP00000258886:A634T	A	+	1	0	IREB2	76567682	1.000000	0.71417	0.948000	0.38648	0.996000	0.88848	9.572000	0.98179	2.551000	0.86045	0.650000	0.86243	GCT		0.378	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	
KIAA1024	23251	broad.mit.edu	37	15	79748576	79748576	+	Silent	SNP	C	C	T	rs141098308	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:79748576C>T	ENST00000305428.3	+	2	162	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	29						integral component of membrane (GO:0016021)		p.D29D(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTTATCAGGACCTGTGCAAAT	0.473																																					p.D29D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C87T	15						.						116.0	108.0	111.0					15																	79748576		2196	4293	6489	77535631	SO:0001819	synonymous_variant	23251	exon2			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.87C>T	15.37:g.79748576C>T			77535631	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
ABHD17C	58489	broad.mit.edu	37	15	81041981	81041981	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:81041981C>T	ENST00000258884.4	+	2	845	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_Missense_Mutation_p.R5C|ABHD17C_ENST00000558464.1_Intron	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	240							hydrolase activity (GO:0016787)	p.R240C(1)									GTCTGGTTTGCGTGTGGCTTT	0.502																																					p.R240C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C718T	15						.						152.0	149.0	150.0					15																	81041981		1996	4166	6162	78829036	SO:0001583	missense	58489	exon2				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.718C>T	15.37:g.81041981C>T	ENSP00000258884:p.Arg240Cys		78829036	NM_021214	Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	CCDS45323.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074473	0.76415	.	.	ENSG00000136379	ENST00000258884	T	0.46819	0.86	4.19	4.19	0.49359	.	0.000000	0.64402	D	0.000001	T	0.79941	0.4533	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88080	0.2806	10	0.87932	D	0	.	17.0866	0.86612	0.0:1.0:0.0:0.0	.	240	Q6PCB6	F108C_HUMAN	C	240	ENSP00000258884:R240C	ENSP00000258884:R240C	R	+	1	0	FAM108C1	78829036	1.000000	0.71417	0.984000	0.44739	0.780000	0.44128	2.770000	0.47662	2.324000	0.78689	0.655000	0.94253	CGT		0.502	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214	
C15orf26	161502	broad.mit.edu	37	15	81427615	81427615	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:81427615T>G	ENST00000286732.4	+	2	157	c.74T>G	c.(73-75)cTc>cGc	p.L25R		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	25								p.L25R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTTTAGGAGCTCATGAAAGAC	0.333																																					p.L25R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T74G	15						.						67.0	70.0	69.0					15																	81427615		1793	4067	5860	79214670	SO:0001583	missense	161502	exon2			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.74T>G	15.37:g.81427615T>G	ENSP00000286732:p.Leu25Arg		79214670	NM_173528	Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	T	0.042	-1.281655	0.01398	.	.	ENSG00000156206	ENST00000286732	T	0.39997	1.05	5.09	0.169	0.15017	.	1.802960	0.02748	N	0.117138	T	0.19208	0.0461	N	0.03948	-0.315	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.19160	-1.0314	10	0.07990	T	0.79	-0.0517	6.1857	0.20495	0.2226:0.0:0.3779:0.3995	.	25	Q6P656	CO026_HUMAN	R	25	ENSP00000286732:L25R	ENSP00000286732:L25R	L	+	2	0	C15orf26	79214670	0.000000	0.05858	0.916000	0.36221	0.403000	0.30841	-0.471000	0.06631	-0.233000	0.09797	-0.468000	0.05107	CTC		0.333	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	
IL16	3603	broad.mit.edu	37	15	81593823	81593823	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:81593823G>A	ENST00000302987.4	+	14	3288	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Silent_p.E395E|IL16_ENST00000394660.2_Silent_p.E1096E			Q14005	IL16_HUMAN	interleukin 16	1096	Interaction with HTLV-1 tax.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1050E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCATCGAGGAGGTGAAGGTTC	0.468																																					p.E1096E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3288A	15						.						106.0	103.0	104.0					15																	81593823		2203	4300	6503	79380878	SO:0001819	synonymous_variant	3603	exon15			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3288G>A	15.37:g.81593823G>A			79380878	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.468	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
C15orf40	123207	broad.mit.edu	37	15	83677353	83677353	+	Missense_Mutation	SNP	G	G	A	rs566813563		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:83677353G>A	ENST00000513601.2	-	3	320	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	C15orf40_ENST00000304177.5_Missense_Mutation_p.R78W|C15orf40_ENST00000451195.3_Missense_Mutation_p.R105W|C15orf40_ENST00000538348.2_Missense_Mutation_p.R105W|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000565712.1_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	105								p.R105W(1)|p.R78W(1)		large_intestine(3)|lung(2)|skin(1)	6						GAAAGATACCGACAGAGCTCA	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19124	0.0		0.0	False		,,,				2504	0.0				p.R105W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C313T	15						.						107.0	98.0	101.0					15																	83677353		2203	4300	6503	81468357	SO:0001583	missense	123207	exon3			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.313C>T	15.37:g.83677353G>A	ENSP00000424666:p.Arg105Trp		81468357	NM_001160113	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	CCDS32312.2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599018	0.66332	.	.	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000304177;ENST00000513601	.	.	.	5.54	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.91140	3.18	0.51012	D	0.999905	P;B;P;P	0.40875	0.506;0.398;0.731;0.7	B;B;B;B	0.33254	0.158;0.142;0.16;0.16	T	0.76293	-0.3012	9	0.62326	D	0.03	-0.3513	14.9715	0.71238	0.069:0.0:0.931:0.0	.	78;105;105;105	Q8WUR7;F8WD31;F5GX92;G5EA00	CO040_HUMAN;.;.;.	W	105;105;78;105	.	ENSP00000307071:R78W	R	-	1	2	C15orf40	81468357	1.000000	0.71417	0.719000	0.30619	0.990000	0.78478	6.243000	0.72384	1.470000	0.48102	0.655000	0.94253	CGG		0.423	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597	
AGBL1	123624	broad.mit.edu	37	15	86940748	86940748	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:86940748G>A	ENST00000441037.2	+	17	2483	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	AGBL1_ENST00000421325.2_Missense_Mutation_p.M796I|AGBL1_ENST00000389298.3_Missense_Mutation_p.M527I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	796					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.M796I(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCATACCCATGCTCAACCCAG	0.498																																					p.M796I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2388A	15						.						177.0	170.0	172.0					15																	86940748		2056	4187	6243	84741752	SO:0001583	missense	123624	exon17			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2388G>A	15.37:g.86940748G>A	ENSP00000413001:p.Met796Ile		84741752	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818040	0.90790	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11169	2.8;2.8	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.81179	2.53	0.52501	D	0.999952	D	0.76494	0.999	D	0.81914	0.995	T	0.14504	-1.0470	10	0.87932	D	0	-26.5674	18.7311	0.91735	0.0:0.0:1.0:0.0	.	796	Q96MI9	CBPC4_HUMAN	I	825;796;527	ENSP00000397173:M796I;ENSP00000373949:M527I	ENSP00000373949:M527I	M	+	3	0	AGBL1	84741752	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.689000	0.98673	2.733000	0.93635	0.655000	0.94253	ATG		0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
ACAN	176	broad.mit.edu	37	15	89401533	89401533	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:89401533G>A	ENST00000561243.1	+	11	5717	c.5717G>A	c.(5716-5718)gGa>gAa	p.G1906E	ACAN_ENST00000439576.2_Missense_Mutation_p.G1906E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1906E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1906E			P16112	PGCA_HUMAN	aggrecan	1901	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.G1792E(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGTCAGTGGAGAATCCTCC	0.517																																					p.G1906E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5717A	15						.						72.0	76.0	75.0					15																	89401533		2013	4184	6197	87202537	SO:0001583	missense	176	exon12			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5717G>A	15.37:g.89401533G>A	ENSP00000453342:p.Gly1906Glu		87202537	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323476	0.60634	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03951	4.01;3.75	5.56	5.56	0.83823	.	0.000000	0.32068	N	0.006639	T	0.26340	0.0643	M	0.86740	2.835	0.42176	D	0.991661	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02868	-1.1100	10	0.28530	T	0.3	-16.7773	18.5131	0.90925	0.0:0.0:1.0:0.0	.	1906;1906	E7ENV9;E7EX88	.;.	E	1906;1906;1792	ENSP00000387356:G1906E;ENSP00000341615:G1906E	ENSP00000268134:G1792E	G	+	2	0	ACAN	87202537	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	5.255000	0.65462	2.618000	0.88619	0.655000	0.94253	GGA		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
HAPLN3	145864	broad.mit.edu	37	15	89424838	89424838	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:89424838C>T	ENST00000359595.3	-	3	457	c.243G>A	c.(241-243)ccG>ccA	p.P81P	HAPLN3_ENST00000562889.1_Silent_p.P143P	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	81	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.P81P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GCACACGCCGCGGGGAGACCA	0.662																																					p.P81P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A	15						.						66.0	67.0	67.0					15																	89424838		2200	4298	6498	87225842	SO:0001819	synonymous_variant	145864	exon3			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.243G>A	15.37:g.89424838C>T			87225842	NM_178232	A8K7P0	Silent	SNP	ENST00000359595.3	37	CCDS10346.1																																																																																				0.662	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
TICRR	90381	broad.mit.edu	37	15	90127640	90127640	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:90127640C>T	ENST00000268138.7	+	3	1163	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	TICRR_ENST00000560985.1_Missense_Mutation_p.T352M|RP11-429B14.1_ENST00000559041.1_RNA|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	353					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.T353M(1)									TCTCTCCCAACGAGCAGCACT	0.507																																					p.T353M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1058T	15						.						72.0	71.0	72.0					15																	90127640		1913	4124	6037	87928644	SO:0001583	missense	90381	exon3			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1058C>T	15.37:g.90127640C>T	ENSP00000268138:p.Thr353Met		87928644	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	3.216	-0.160613	0.06502	.	.	ENSG00000140534	ENST00000268138	T	0.14022	2.54	5.26	-10.5	0.00291	.	1.226030	0.05256	N	0.514873	T	0.06142	0.0159	N	0.12182	0.205	0.09310	N	1	B	0.22604	0.072	B	0.09377	0.004	T	0.30297	-0.9983	10	0.32370	T	0.25	2.0894	10.6555	0.45673	0.2138:0.5727:0.0:0.2135	.	353	Q7Z2Z1	TICRR_HUMAN	M	353	ENSP00000268138:T353M	ENSP00000268138:T353M	T	+	2	0	C15orf42	87928644	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.690000	0.01922	-2.033000	0.00925	-1.106000	0.02097	ACG		0.507	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
CIB1	10519	broad.mit.edu	37	15	90771577	90771577	+	IGR	SNP	G	G	T	rs373294219		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:90771577G>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R739L|SEMA4B_ENST00000411539.2_Missense_Mutation_p.R739L	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.R739L(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TTGCTCTACCGGCACCGGAAC	0.607																																					p.R739L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2216T	15						.						85.0	91.0	89.0					15																	90771577		2102	4232	6334	88572581	SO:0001628	intergenic_variant	10509	exon14			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771577G>T			88572581	NM_198925	B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780839	0.90195	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.78126	-1.15;-1.15	5.28	5.28	0.74379	.	0.593582	0.16140	N	0.227780	D	0.87771	0.6261	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.67103	0.949;0.946	D	0.87557	0.2469	10	0.54805	T	0.06	.	18.239	0.89960	0.0:0.0:1.0:0.0	.	739;734	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	L	739	ENSP00000332204:R739L;ENSP00000394720:R739L	ENSP00000332204:R739L	R	+	2	0	SEMA4B	88572581	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.216000	0.77974	2.624000	0.88883	0.561000	0.74099	CGG		0.607	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1		
FURIN	5045	broad.mit.edu	37	15	91419722	91419722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:91419722C>T	ENST00000268171.3	+	4	586	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	103					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R103*(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGTGGCAAAGCGACGGACTAA	0.627																																					p.R103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C307T	15						.						124.0	107.0	113.0					15																	91419722		2198	4298	6496	89220726	SO:0001587	stop_gained	5045	exon4			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.307C>T	15.37:g.91419722C>T	ENSP00000268171:p.Arg103*		89220726	NM_002569	Q14336|Q6LBS3|Q9UCZ5	Nonsense_Mutation	SNP	ENST00000268171.3	37	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264980	0.95399	.	.	ENSG00000140564	ENST00000268171	.	.	.	4.79	2.81	0.32909	.	0.423085	0.23633	N	0.046112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2287	9.2203	0.37373	0.2962:0.5607:0.1431:0.0	.	.	.	.	X	103	.	ENSP00000268171:R103X	R	+	1	2	FURIN	89220726	1.000000	0.71417	0.877000	0.34402	0.555000	0.35460	2.393000	0.44442	0.570000	0.29347	0.650000	0.86243	CGA		0.627	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569	
MEF2A	4205	broad.mit.edu	37	15	100211568	100211568	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:100211568A>G	ENST00000557785.1	+	5	648	c.299A>G	c.(298-300)gAt>gGt	p.D100G	MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000558812.1_Missense_Mutation_p.D32G|MEF2A_ENST00000449277.2_Missense_Mutation_p.D32G|MEF2A_ENST00000338042.6_Missense_Mutation_p.D100G|MEF2A_ENST00000557942.1_Missense_Mutation_p.D100G|MEF2A_ENST00000453228.2_Missense_Mutation_p.D100G	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	100					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.D100G(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GAGAGCCCTGATGCTGACGAT	0.383																																					p.D100G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A299G	15						.						180.0	169.0	172.0					15																	100211568		1568	3582	5150	98029091	SO:0001583	missense	4205	exon6				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.299A>G	15.37:g.100211568A>G	ENSP00000453441:p.Asp100Gly		98029091	NM_001171894	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468541	0.84533	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.64618	-0.11;-0.11;-0.11	5.54	5.54	0.83059	.	.	.	.	.	T	0.77890	0.4198	M	0.66297	2.02	0.53005	D	0.999969	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.80365	-0.1413	9	0.87932	D	0	.	15.9546	0.79876	1.0:0.0:0.0:0.0	.	32;21;100;100	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	G	100;100;32	ENSP00000404110:D100G;ENSP00000337202:D100G;ENSP00000399460:D32G	ENSP00000337202:D100G	D	+	2	0	MEF2A	98029091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.229000	0.72834	0.533000	0.62120	GAT		0.383	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
CERS3	204219	broad.mit.edu	37	15	100996220	100996220	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:100996220A>G	ENST00000394113.1	-	13	1567	c.877T>C	c.(877-879)Tat>Cat	p.Y293H	CERS3_ENST00000538112.2_Missense_Mutation_p.Y293H|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.Y293H			Q8IU89	CERS3_HUMAN	ceramide synthase 3	293	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.Y293H(1)									TCGAGGTGATACATAGGCAAG	0.378																																					p.Y293H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T877C	15						.						102.0	93.0	96.0					15																	100996220		2203	4300	6503	98813743	SO:0001583	missense	204219	exon12				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.877T>C	15.37:g.100996220A>G	ENSP00000377672:p.Tyr293His		98813743	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	A	1.093	-0.663418	0.03428	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.85013	-1.93;-1.93	5.66	-2.98	0.05513	TRAM/LAG1/CLN8 homology domain (3);	0.781236	0.12551	N	0.459073	T	0.68467	0.3004	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.54255	-0.8321	10	0.39692	T	0.17	-2.2365	11.3142	0.49381	0.6826:0.0:0.3174:0.0	.	293	Q8IU89	CERS3_HUMAN	H	293;304;293	ENSP00000284382:Y293H;ENSP00000437640:Y293H	ENSP00000284382:Y293H	Y	-	1	0	CERS3	98813743	0.277000	0.24220	0.013000	0.15412	0.306000	0.27790	-0.476000	0.06591	-0.373000	0.07979	-0.242000	0.12053	TAT		0.378	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
KLHL25	64410	broad.mit.edu	37	15	86312608	86312608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:86312608delA	ENST00000337975.5	-	2	708	c.434delT	c.(433-435)ttcfs	p.F145fs	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Frame_Shift_Del_p.F145fs|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	145					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.F145fs*8(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTTGGAGGGGAAAAGGTTCTT	0.607																																					p.F145fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.434delT	15						.						92.0	90.0	90.0					15																	86312608		2202	4299	6501	84113612	SO:0001589	frameshift_variant	64410	exon2				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.434delT	15.37:g.86312608delA	ENSP00000336800:p.Phe145fs		84113612	NM_022480	B2RDH2|B3KRT7	Frame_Shift_Del	DEL	ENST00000337975.5	37	CCDS10339.1																																																																																				0.607	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480	
LRRK1	79705	broad.mit.edu	37	15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T	rs202112893	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr15:101528929C>T	ENST00000388948.3	+	5	883	c.524C>T	c.(523-525)aCg>aTg	p.T175M	LRRK1_ENST00000532029.2_Missense_Mutation_p.T175M|LRRK1_ENST00000284395.5_Missense_Mutation_p.T172M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.T148M(2)|p.T175M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632													C|||	5	0.000998403	0.0	0.0014	5008	,	,		18218	0.001		0.0	False		,,,				2504	0.0031				p.T175M												.	.	3	Substitution - Missense(3)	large_intestine(2)|central_nervous_system(1)	c.C524T	15						.	C	MET/THR	3,4077		0,3,2037	61.0	66.0	65.0		524	4.6	0.8	15		65	0,8350		0,0,4175	yes	missense	LRRK1	NM_024652.3	81	0,3,6212	TT,TC,CC		0.0,0.0735,0.0241	possibly-damaging	175/2016	101528929	3,12427	2040	4175	6215	99346452	SO:0001583	missense	79705	exon5			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.524C>T	15.37:g.101528929C>T	ENSP00000373600:p.Thr175Met		99346452	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783124	0.49891	7.35E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.65732	-0.17;0.61;-0.17	5.5	4.56	0.56223	Ankyrin repeat-containing domain (4);	0.227982	0.34853	N	0.003634	T	0.66458	0.2791	L	0.31578	0.945	0.25143	N	0.990487	D;D	0.89917	0.995;1.0	P;D	0.63703	0.778;0.917	T	0.61008	-0.7149	10	0.48119	T	0.1	.	13.8269	0.63357	0.0:0.7077:0.2923:0.0	.	175;175	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	M	175;172;175	ENSP00000373600:T175M;ENSP00000284395:T172M;ENSP00000433268:T175M	ENSP00000284395:T172M	T	+	2	0	LRRK1	99346452	0.962000	0.33011	0.848000	0.33437	0.409000	0.31022	2.165000	0.42396	1.288000	0.44600	0.650000	0.86243	ACG		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
TEKT5	146279	broad.mit.edu	37	16	10729663	10729663	+	Missense_Mutation	SNP	C	C	T	rs143414845		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:10729663C>T	ENST00000283025.2	-	6	1270	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	400						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R400Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GTTGGGGCGCCGGGTCCGGCA	0.622																																					p.R400Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199A	16						.	C	GLN/ARG	0,4394		0,0,2197	101.0	106.0	104.0		1199	3.6	1.0	16	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	TEKT5	NM_144674.1	43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	400/486	10729663	1,12993	2197	4300	6497	10637164	SO:0001583	missense	146279	exon6				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1199G>A	16.37:g.10729663C>T	ENSP00000283025:p.Arg400Gln		10637164	NM_144674	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411906	0.62511	0.0	1.16E-4	ENSG00000153060	ENST00000283025	T	0.02197	4.4	4.56	3.6	0.41247	.	0.417330	0.20033	N	0.100665	T	0.02418	0.0074	L	0.39085	1.19	0.40513	D	0.980759	B	0.22080	0.064	B	0.18263	0.021	T	0.52689	-0.8542	10	0.34782	T	0.22	-10.7452	10.7308	0.46096	0.0:0.9054:0.0:0.0946	.	400	Q96M29	TEKT5_HUMAN	Q	400	ENSP00000283025:R400Q	ENSP00000283025:R400Q	R	-	2	0	TEKT5	10637164	0.001000	0.12720	0.959000	0.39883	0.693000	0.40251	1.408000	0.34668	2.090000	0.63153	0.555000	0.69702	CGG		0.622	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
ERCC4	2072	broad.mit.edu	37	16	14041623	14041623	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:14041623G>T	ENST00000311895.7	+	11	2179	c.2170G>T	c.(2170-2172)Gtg>Ttg	p.V724L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	724	ERCC4.|Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.V724L(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGAAATGTGCGTGGAGCGCAA	0.498			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.V724L		yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2170T	16						.						93.0	89.0	91.0					16																	14041623		2197	4300	6497	13949124	SO:0001583	missense	2072	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2170G>T	16.37:g.14041623G>T	ENSP00000310520:p.Val724Leu		13949124	NM_005236	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651093	0.88056	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.45276	0.9	5.58	5.58	0.84498	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (2);	0.056666	0.64402	D	0.000001	T	0.70919	0.3279	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76022	-0.3111	10	0.87932	D	0	-28.364	18.5707	0.91135	0.0:0.0:1.0:0.0	.	724	Q92889	XPF_HUMAN	L	724;712	ENSP00000310520:V724L	ENSP00000310520:V724L	V	+	1	0	ERCC4	13949124	1.000000	0.71417	0.995000	0.50966	0.446000	0.32137	6.013000	0.70776	2.624000	0.88883	0.655000	0.94253	GTG		0.498	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
ABCC6	368	broad.mit.edu	37	16	16291968	16291968	+	Silent	SNP	G	G	A	rs143487365	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:16291968G>A	ENST00000205557.7	-	10	1277	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	416	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D416D(1)|p.D416E(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)	GCCGCTGCACGTCCACGGACA	0.612																																					p.D416D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C1248T	16						.	G		3,4391	6.2+/-15.9	0,3,2194	70.0	49.0	56.0		1248	-4.4	0.9	16	dbSNP_134	56	32,8566	21.6+/-65.8	0,32,4267	no	coding-synonymous	ABCC6	NM_001171.5		0,35,6461	AA,AG,GG		0.3722,0.0683,0.2694		416/1504	16291968	35,12957	2197	4299	6496	16199469	SO:0001819	synonymous_variant	368	exon10			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.1248C>T	16.37:g.16291968G>A			16199469	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	CCDS10568.1																																																																																				0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
XYLT1	64131	broad.mit.edu	37	16	17235068	17235068	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:17235068G>A	ENST00000261381.6	-	7	1613	c.1529C>T	c.(1528-1530)aCa>aTa	p.T510I	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	510					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.T510I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGATCGTCTGTGGAGAAGGT	0.532																																					p.T510I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1529T	16						.						227.0	228.0	228.0					16																	17235068		2197	4300	6497	17142569	SO:0001583	missense	64131	exon7			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1529C>T	16.37:g.17235068G>A	ENSP00000261381:p.Thr510Ile		17142569	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010058	0.54361	.	.	ENSG00000103489	ENST00000261381	T	0.11495	2.77	5.92	3.83	0.44106	.	0.305128	0.41294	D	0.000915	T	0.10380	0.0254	N	0.19112	0.55	0.34305	D	0.684817	P	0.45283	0.855	P	0.47346	0.544	T	0.25537	-1.0129	10	0.39692	T	0.17	-14.3731	12.0325	0.53406	0.0:0.0:0.4725:0.5275	.	510	Q86Y38	XYLT1_HUMAN	I	510	ENSP00000261381:T510I	ENSP00000261381:T510I	T	-	2	0	XYLT1	17142569	0.998000	0.40836	0.974000	0.42286	0.791000	0.44710	2.723000	0.47277	1.491000	0.48482	0.555000	0.69702	ACA		0.532	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
ZP2	7783	broad.mit.edu	37	16	21210987	21210987	+	Splice_Site	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:21210987C>T	ENST00000574002.1	-	17	2313	c.1831G>A	c.(1831-1833)Gtc>Atc	p.V611I	ZP2_ENST00000574091.1_Splice_Site_p.V602I|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Splice_Site_p.V611I			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	611	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.V611I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGGAAGTAGACCTGGAGACAG	0.512																																					p.V611I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1831A	16						.						144.0	134.0	137.0					16																	21210987		2200	4300	6500	21118488	SO:0001630	splice_region_variant	7783	exon16			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1831-1G>A	16.37:g.21210987C>T			21118488	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527100	0.44969	.	.	ENSG00000103310	ENST00000219593	D	0.84800	-1.9	5.43	1.96	0.26148	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.215449	0.31051	N	0.008357	T	0.76328	0.3972	L	0.31157	0.91	0.34870	D	0.743484	P;P	0.40578	0.581;0.722	B;B	0.41946	0.371;0.371	T	0.76170	-0.3057	10	0.23302	T	0.38	-10.7039	10.9595	0.47376	0.0:0.7562:0.0:0.2438	.	602;611	Q4VAP1;Q05996	.;ZP2_HUMAN	I	611	ENSP00000219593:V611I	ENSP00000219593:V611I	V	-	1	0	ZP2	21118488	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.207000	0.42788	0.680000	0.31366	-0.245000	0.11935	GTC		0.512	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		Missense_Mutation
GGA2	23062	broad.mit.edu	37	16	23507062	23507062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:23507062C>T	ENST00000309859.4	-	2	211	c.129G>A	c.(127-129)tgG>tgA	p.W43*	GGA2_ENST00000567468.1_Nonsense_Mutation_p.W43*	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	43	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				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.W43*(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)		GGATAGCTGACCAATCCTGTT	0.448																																					p.W43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G129A	16						.						175.0	133.0	147.0					16																	23507062		2197	4300	6497	23414563	SO:0001587	stop_gained	23062	exon2			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.129G>A	16.37:g.23507062C>T	ENSP00000311962:p.Trp43*		23414563	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Nonsense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118099	0.94385	.	.	ENSG00000103365	ENST00000309859	.	.	.	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8545	15.3364	0.74260	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000311962:W43X	W	-	3	0	GGA2	23414563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.351000	0.79395	2.217000	0.71921	0.448000	0.29417	TGG		0.448	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
SRRM2	23524	broad.mit.edu	37	16	2812538	2812538	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:2812538G>A	ENST00000301740.8	+	11	2558	c.2009G>A	c.(2008-2010)cGc>cAc	p.R670H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	670	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.R670H(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						GGCCGCTCACGCTCTAGAACC	0.622																																					p.R670H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2009A	16						.						95.0	98.0	97.0					16																	2812538		2198	4300	6498	2752539	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.2009G>A	16.37:g.2812538G>A	ENSP00000301740:p.Arg670His		2752539	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	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413940	0.25465	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.33216	1.42	5.91	5.91	0.95273	.	0.100901	0.44688	N	0.000423	T	0.38134	0.1029	L	0.27053	0.805	0.40946	D	0.984507	D	0.69078	0.997	P	0.54965	0.765	T	0.15350	-1.0440	10	0.66056	D	0.02	-1.467	17.7727	0.88497	0.0:0.0:1.0:0.0	.	670	Q9UQ35	SRRM2_HUMAN	H	670;670;635	ENSP00000301740:R670H	ENSP00000301740:R670H	R	+	2	0	SRRM2	2752539	0.888000	0.30383	0.404000	0.26397	0.362000	0.29581	4.736000	0.62059	2.801000	0.96364	0.655000	0.94253	CGC		0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
ARHGAP17	55114	broad.mit.edu	37	16	24971073	24971073	+	Splice_Site	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:24971073A>G	ENST00000289968.6	-	9	712	c.643T>C	c.(643-645)Tta>Cta	p.L215L	ARHGAP17_ENST00000303665.5_Splice_Site_p.L215L|ARHGAP17_ENST00000575975.1_Intron|ARHGAP17_ENST00000441763.2_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	215	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.L215L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTTCTAATAACTGAGAACAG	0.418																																					p.L215L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T643C	16						.						111.0	102.0	105.0					16																	24971073		2197	4300	6497	24878574	SO:0001630	splice_region_variant	55114	exon9			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.643-1T>C	16.37:g.24971073A>G			24878574	NM_001006634	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																				0.418	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	Silent
TUFM	7284	broad.mit.edu	37	16	28854370	28854370	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:28854370G>T	ENST00000313511.3	-	10	1432	c.1294C>A	c.(1294-1296)Cgg>Agg	p.R432R	MIR4721_ENST00000577590.1_RNA	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	429					translational elongation (GO:0006414)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation elongation factor activity (GO:0003746)	p.R432R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CCAATAGTCCGGTTGCCATCT	0.547																																					p.R432R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1294A	16						.						166.0	139.0	148.0					16																	28854370		2197	4300	6497	28761871	SO:0001819	synonymous_variant	7284	exon10			L38995	CCDS10642.1	16p11.2	2010-10-26			ENSG00000178952	ENSG00000178952			12420	protein-coding gene	gene with protein product		602389				9332382, 9545647	Standard	NM_003321		Approved	EFTu, EF-TuMT, EFTU	uc002drh.2	P49411	OTTHUMG00000097039	ENST00000313511.3:c.1294C>A	16.37:g.28854370G>T			28761871	NM_003321	O15276	Silent	SNP	ENST00000313511.3	37	CCDS10642.1																																																																																				0.547	TUFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214140.1	NM_003321	
TBC1D10B	26000	broad.mit.edu	37	16	30369538	30369538	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:30369538G>A	ENST00000409939.3	-	9	2234	c.2154C>T	c.(2152-2154)agC>agT	p.S718S	CD2BP2_ENST00000305596.3_5'Flank|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	718					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.S443S(1)		endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGGTCTCCTTGCTGGAACCCA	0.622																																					p.S718S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2154T	16						.						57.0	43.0	48.0					16																	30369538		2158	4244	6402	30277039	SO:0001819	synonymous_variant	26000	exon9			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.2154C>T	16.37:g.30369538G>A			30277039	NM_015527	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	CCDS10676.2																																																																																				0.622	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527	
ZNF768	79724	broad.mit.edu	37	16	30535855	30535855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:30535855C>T	ENST00000380412.5	-	2	1781	c.1606G>A	c.(1606-1608)Gcg>Acg	p.A536T	ZNF768_ENST00000562803.1_Missense_Mutation_p.A505T	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	536					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A536T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGCCCGCCGCGTGGGTCCGC	0.662																																					p.A536T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1606A	16						.						25.0	30.0	28.0					16																	30535855		2193	4291	6484	30443356	SO:0001583	missense	79724	exon2			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1606G>A	16.37:g.30535855C>T	ENSP00000369777:p.Ala536Thr		30443356	NM_024671	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101340	0.06967	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07114	3.22	4.81	4.81	0.61882	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42053	D	0.000762	T	0.02119	0.0066	N	0.01009	-1.055	0.09310	N	1	B	0.31599	0.33	B	0.15052	0.012	T	0.38693	-0.9649	10	0.02654	T	1	-6.85	13.2385	0.59983	0.0:1.0:0.0:0.0	.	536	Q9H5H4	ZN768_HUMAN	T	536;449	ENSP00000369777:A536T	ENSP00000369777:A536T	A	-	1	0	ZNF768	30443356	0.000000	0.05858	0.204000	0.23530	0.453000	0.32348	-0.207000	0.09384	2.518000	0.84900	0.511000	0.50034	GCG		0.662	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671	
ZNF764	92595	broad.mit.edu	37	16	30566563	30566563	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:30566563C>T	ENST00000252797.2	-	3	1259	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	ZNF764_ENST00000395091.2_Silent_p.P392P|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	393					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.P393P(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGCCCACGGGCGGGTCCAGGT	0.657																																					p.P392P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1176A	16						.						27.0	31.0	29.0					16																	30566563		2190	4294	6484	30474064	SO:0001819	synonymous_variant	92595	exon3			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.1179G>A	16.37:g.30566563C>T			30474064	NM_001172679	A8MZF4|B3KSN2|H9KV99|Q9BWS1	Silent	SNP	ENST00000252797.2	37	CCDS10683.1																																																																																				0.657	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410	
ZNF688	146542	broad.mit.edu	37	16	30582813	30582813	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:30582813C>T	ENST00000223459.6	-	1	1242	c.138G>A	c.(136-138)gcG>gcA	p.A46A	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000563707.1_Silent_p.A46A|AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000567855.1_Silent_p.A46A|ZNF688_ENST00000395219.1_Intron	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	46	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.A46A(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GAGCCCTCTGCGCGGGCCGCA	0.711																																					p.A46A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G138A	16						.						13.0	16.0	15.0					16																	30582813		2187	4290	6477	30490314	SO:0001819	synonymous_variant	146542	exon1			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.138G>A	16.37:g.30582813C>T			30490314	NM_145271	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	CCDS10684.1																																																																																				0.711	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271	
SETD1A	9739	broad.mit.edu	37	16	30977163	30977163	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:30977163C>T	ENST00000262519.8	+	8	2647	c.1961C>T	c.(1960-1962)cCg>cTg	p.P654L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	654	Pro-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.P654L(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						CCACCACCCCCGCACATCTAT	0.607																																					p.P654L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1961T	16						.						47.0	47.0	47.0					16																	30977163		2197	4300	6497	30884664	SO:0001583	missense	9739	exon8			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.1961C>T	16.37:g.30977163C>T	ENSP00000262519:p.Pro654Leu		30884664	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883753	0.33255	.	.	ENSG00000099381	ENST00000262519	D	0.94793	-3.52	4.67	4.67	0.58626	.	0.067298	0.64402	D	0.000011	D	0.93739	0.7999	L	0.42245	1.32	0.53005	D	0.999965	D	0.67145	0.996	P	0.53006	0.715	D	0.92031	0.5633	10	0.23302	T	0.38	.	16.5112	0.84286	0.0:1.0:0.0:0.0	.	654	O15047	SET1A_HUMAN	L	654	ENSP00000262519:P654L	ENSP00000262519:P654L	P	+	2	0	SETD1A	30884664	0.999000	0.42202	0.993000	0.49108	0.545000	0.35147	2.800000	0.47900	2.434000	0.82447	0.655000	0.94253	CCG		0.607	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
SETD1A	9739	broad.mit.edu	37	16	30990750	30990750	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:30990750G>A	ENST00000262519.8	+	14	4329	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1215					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.A1215T(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						CCTGGACCACGCATCTCTGGT	0.721																																					p.A1215T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3643A	16						.						11.0	13.0	12.0					16																	30990750		2172	4261	6433	30898251	SO:0001583	missense	9739	exon14			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.3643G>A	16.37:g.30990750G>A	ENSP00000262519:p.Ala1215Thr		30898251	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063037	0.36373	.	.	ENSG00000099381	ENST00000262519	D	0.95342	-3.68	5.25	5.25	0.73442	.	0.130003	0.50627	D	0.000119	D	0.95456	0.8524	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95675	0.8727	10	0.51188	T	0.08	.	17.6127	0.88059	0.0:0.0:1.0:0.0	.	1215	O15047	SET1A_HUMAN	T	1215	ENSP00000262519:A1215T	ENSP00000262519:A1215T	A	+	1	0	SETD1A	30898251	1.000000	0.71417	0.218000	0.23776	0.113000	0.19764	9.097000	0.94193	2.446000	0.82766	0.557000	0.71058	GCA		0.721	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
HSD3B7	80270	broad.mit.edu	37	16	30997990	30997990	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:30997990G>A	ENST00000297679.5	+	5	589	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	HSD3B7_ENST00000262520.6_Missense_Mutation_p.A166T|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_Missense_Mutation_p.A166T	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	166					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.A166T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGGCCCTGGCCGAGTGGCT	0.627																																					p.A166T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	16						.						59.0	63.0	61.0					16																	30997990		2197	4300	6497	30905491	SO:0001583	missense	80270	exon5			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.496G>A	16.37:g.30997990G>A	ENSP00000297679:p.Ala166Thr		30905491	NM_025193	Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729319	0.96856	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.91295	-2.82;-2.82;-2.82	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96639	0.8903	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;0.986	D;D	0.87578	0.998;0.929	D	0.97376	0.9979	10	0.87932	D	0	-16.6741	17.2199	0.86954	0.0:0.0:1.0:0.0	.	166;166	Q96M28;Q9H2F3	.;3BHS7_HUMAN	T	166	ENSP00000262520:A166T;ENSP00000370662:A166T;ENSP00000297679:A166T	ENSP00000262520:A166T	A	+	1	0	HSD3B7	30905491	1.000000	0.71417	0.266000	0.24541	0.812000	0.45895	5.899000	0.69846	2.667000	0.90743	0.561000	0.74099	GCC		0.627	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2		
ZNF205	7755	broad.mit.edu	37	16	3166467	3166467	+	Missense_Mutation	SNP	C	C	T	rs143032070		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:3166467C>T	ENST00000382192.3	+	5	608	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R135W|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	135	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|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.R135W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GTACCTCTCCCGGGAGGAGTG	0.562													C|||	0	0.0	0.0	0.0	5008	,	,		20391	0.0		0.0	False		,,,				2504	0.0				p.R135W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403T	16						.	C	TRP/ARG,TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	177.0	115.0	136.0		403,403	3.8	1.0	16	dbSNP_134	136	0,8600		0,0,4300	yes	missense,missense	ZNF205	NM_001042428.1,NM_003456.2	101,101	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	135/555,135/555	3166467	1,12993	2197	4300	6497	3106468	SO:0001583	missense	7755	exon5			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.403C>T	16.37:g.3166467C>T	ENSP00000371627:p.Arg135Trp		3106468	NM_001042428	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.54	3.846968	0.71603	2.28E-4	0.0	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.01887	4.58;4.58;4.58	4.85	3.84	0.44239	Krueppel-associated box (4);	0.690949	0.12447	N	0.468080	T	0.02083	0.0065	L	0.28274	0.84	0.21627	N	0.999617	B	0.28552	0.215	B	0.30401	0.115	T	0.43845	-0.9366	10	0.40728	T	0.16	-6.0356	5.387	0.16224	0.2128:0.6845:0.0:0.1027	.	135	O95201	ZN205_HUMAN	W	135	ENSP00000371627:R135W;ENSP00000219091:R135W;ENSP00000403306:R135W	ENSP00000219091:R135W	R	+	1	2	ZNF205	3106468	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-1.027000	0.03592	2.534000	0.85438	0.650000	0.86243	CGG		0.562	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456	
ZNF75A	7627	broad.mit.edu	37	16	3367639	3367639	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:3367639T>C	ENST00000574298.1	+	6	1134	c.661T>C	c.(661-663)Tgg>Cgg	p.W221R	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	221					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.W221R(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TAAATGTTCATGGTGTGGGAA	0.343																																					p.W221R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T661C	16						.						66.0	62.0	64.0					16																	3367639		2197	4300	6497	3307640	SO:0001583	missense	7627	exon6			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.661T>C	16.37:g.3367639T>C	ENSP00000459566:p.Trp221Arg		3307640	NM_153028	Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505413	0.44558	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.37	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000819	T	0.20455	0.0492	N	0.03224	-0.385	0.25597	N	0.986638	P	0.47191	0.891	P	0.51266	0.664	T	0.04090	-1.0978	9	0.87932	D	0	.	8.1827	0.31319	0.0:0.0:0.2033:0.7967	.	221	Q96N20	ZN75A_HUMAN	R	221	.	ENSP00000293995:W221R	W	+	1	0	ZNF75A	3307640	0.530000	0.26330	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	1.961000	0.56991	0.455000	0.32223	TGG		0.343	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028	
NMRAL1	57407	broad.mit.edu	37	16	4519449	4519449	+	Missense_Mutation	SNP	C	C	T	rs77934295		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:4519449C>T	ENST00000574733.1	-	3	787	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	NMRAL1_ENST00000404295.3_Missense_Mutation_p.V20M|NMRAL1_ENST00000574425.1_Missense_Mutation_p.V20M|NMRAL1_ENST00000283429.6_Missense_Mutation_p.V20M|NMRAL1_ENST00000572391.1_Intron			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	20						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V20M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GTGCGGGCCACGGAGCCACCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		16905	0.001		0.0	False		,,,				2504	0.0				p.V20M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58A	16						.	C	MET/VAL	2,4392	4.2+/-10.8	0,2,2195	176.0	169.0	171.0		58	5.4	1.0	16	dbSNP_131	171	0,8600		0,0,4300	no	missense	NMRAL1	NM_020677.3	21	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	20/300	4519449	2,12992	2197	4300	6497	4459450	SO:0001583	missense	57407	exon3			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.58G>A	16.37:g.4519449C>T	ENSP00000458762:p.Val20Met		4459450	NM_020677		Missense_Mutation	SNP	ENST00000574733.1	37	CCDS10516.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.7	4.329370	0.81690	4.55E-4	0.0	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	NAD(P)-binding domain (1);NmrA-like (1);	0.298810	0.28730	N	0.014332	T	0.76941	0.4058	M	0.93763	3.455	0.44927	D	0.997948	D	0.89917	1.0	D	0.91635	0.999	T	0.83259	-0.0049	10	0.87932	D	0	-27.0687	16.2746	0.82638	0.0:1.0:0.0:0.0	.	20	Q9HBL8	NMRL1_HUMAN	M	20	ENSP00000283429:V20M;ENSP00000383962:V20M	ENSP00000283429:V20M	V	-	1	0	NMRAL1	4459450	0.993000	0.37304	0.958000	0.39756	0.969000	0.65631	3.302000	0.51849	2.534000	0.85438	0.561000	0.74099	GTG		0.567	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677	
STX1B	112755	broad.mit.edu	37	16	31004540	31004540	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:31004540C>T	ENST00000215095.5	-	9	928	c.697G>A	c.(697-699)Gag>Aag	p.E233K	STX1B_ENST00000565419.1_Missense_Mutation_p.E233K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	233	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)	p.E233*(1)|p.E233K(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						ACGTTGTACTCGATGCGGTCA	0.597																																					p.E233K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G697A	16						.						148.0	133.0	138.0					16																	31004540		2197	4300	6497	30912041	SO:0001583	missense	112755	exon9			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.697G>A	16.37:g.31004540C>T	ENSP00000215095:p.Glu233Lys		30912041	NM_052874	Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595901	0.96602	.	.	ENSG00000099365	ENST00000215095	T	0.32023	1.47	5.0	5.0	0.66597	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.059855	0.64402	D	0.000004	T	0.72890	0.3517	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.986	D	0.85446	0.1158	10	0.87932	D	0	.	17.0941	0.86630	0.0:1.0:0.0:0.0	.	233;233	Q2VPS2;P61266	.;STX1B_HUMAN	K	233	ENSP00000215095:E233K	ENSP00000215095:E233K	E	-	1	0	STX1B	30912041	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.487000	0.81328	2.309000	0.77851	0.561000	0.74099	GAG		0.597	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2		
VPS35	55737	broad.mit.edu	37	16	46713061	46713061	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:46713061T>C	ENST00000299138.7	-	6	572	c.514A>G	c.(514-516)Aca>Gca	p.T172A	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	172					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.T172A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCACCAGTTGTTTCTTCACTG	0.403																																					p.T172A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A514G	16						.						119.0	104.0	109.0					16																	46713061		2203	4300	6503	45270562	SO:0001583	missense	55737	exon6			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.514A>G	16.37:g.46713061T>C	ENSP00000299138:p.Thr172Ala		45270562	NM_018206	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.252802	0.22965	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.41065	1.01	5.37	5.37	0.77165	.	0.153654	0.56097	D	0.000022	T	0.18882	0.0453	N	0.05230	-0.09	0.33508	D	0.590727	B	0.02656	0.0	B	0.06405	0.002	T	0.21724	-1.0237	10	0.06891	T	0.86	-14.6324	10.0954	0.42471	0.0:0.0753:0.0:0.9247	.	172	Q96QK1	VPS35_HUMAN	A	172;37	ENSP00000299138:T172A	ENSP00000299138:T172A	T	-	1	0	VPS35	45270562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.204000	0.58460	2.152000	0.67230	0.455000	0.32223	ACA		0.403	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3		
ZNF500	26048	broad.mit.edu	37	16	4802786	4802786	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:4802786C>T	ENST00000219478.6	-	6	1333	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	ZNF500_ENST00000545009.1_Missense_Mutation_p.R345H|ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA			O60304	ZN500_HUMAN	zinc finger protein 500	345					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.R345H(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CGTGTGTGTGCGCTGGTGCTT	0.617																																					p.R345H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	16						.						112.0	95.0	101.0					16																	4802786		2197	4300	6497	4742787	SO:0001583	missense	26048	exon6			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.1034G>A	16.37:g.4802786C>T	ENSP00000219478:p.Arg345His		4742787	NM_021646	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793553	0.70452	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.25749	1.78;1.78	3.76	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29716	0.0742	M	0.83953	2.67	0.23649	N	0.997208	D;D	0.54047	0.964;0.964	B;B	0.38921	0.285;0.285	T	0.26360	-1.0105	9	0.66056	D	0.02	.	8.9806	0.35964	0.0:0.8848:0.0:0.1152	.	345;345	B4DNN9;O60304	.;ZN500_HUMAN	H	345	ENSP00000445714:R345H;ENSP00000219478:R345H	ENSP00000219478:R345H	R	-	2	0	ZNF500	4742787	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.805000	0.27112	0.573000	0.29400	0.655000	0.94253	CGC		0.617	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507	
ABCC11	85320	broad.mit.edu	37	16	48212569	48212569	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:48212569C>T	ENST00000394747.1	-	23	3636	c.3287G>A	c.(3286-3288)cGg>cAg	p.R1096Q	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096Q|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096Q|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1096	ABC transmembrane type-1 2. {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.R1096Q(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)	CAAGCCAATCCGGGCAGTGGC	0.582																																					p.R1096Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3287A	16						.						94.0	85.0	88.0					16																	48212569		2201	4300	6501	46770070	SO:0001583	missense	85320	exon24			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.3287G>A	16.37:g.48212569C>T	ENSP00000378230:p.Arg1096Gln		46770070	NM_145186	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841940	0.71488	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	3.75	3.75	0.43078	ABC transporter, transmembrane domain, type 1 (1);	0.226724	0.33217	N	0.005149	D	0.96923	0.8995	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.964	D	0.96694	0.9513	10	0.54805	T	0.06	-11.3576	10.9387	0.47260	0.0:1.0:0.0:0.0	.	1096;1096	Q96J66-2;Q96J66	.;ABCCB_HUMAN	Q	1096	ENSP00000311326:R1096Q;ENSP00000349017:R1096Q;ENSP00000378231:R1096Q;ENSP00000378230:R1096Q	ENSP00000311326:R1096Q	R	-	2	0	ABCC11	46770070	0.897000	0.30589	0.006000	0.13384	0.002000	0.02628	4.417000	0.59822	1.953000	0.56701	0.462000	0.41574	CGG		0.582	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
NKD1	85407	broad.mit.edu	37	16	50583353	50583353	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:50583353G>A	ENST00000268459.3	+	3	303	c.79G>A	c.(79-81)Gct>Act	p.A27T	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.1_ENST00000569940.2_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	27					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A27T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CGCCGTGAGCGCTGCCTGGGC	0.682																																					p.A27T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79A	16						.						31.0	34.0	33.0					16																	50583353		2198	4300	6498	49140854	SO:0001583	missense	85407	exon3			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.79G>A	16.37:g.50583353G>A	ENSP00000268459:p.Ala27Thr		49140854	NM_033119	B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540887	0.85917	.	.	ENSG00000140807	ENST00000268459	T	0.67698	-0.28	4.12	4.12	0.48240	.	0.127302	0.51477	D	0.000088	T	0.78572	0.4304	M	0.62723	1.935	0.51012	D	0.999902	D	0.76494	0.999	D	0.77557	0.99	T	0.81258	-0.1014	10	0.72032	D	0.01	-11.8123	14.343	0.66641	0.0:0.0:1.0:0.0	.	27	Q969G9	NKD1_HUMAN	T	27	ENSP00000268459:A27T	ENSP00000268459:A27T	A	+	1	0	NKD1	49140854	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.502000	0.66956	2.134000	0.65973	0.313000	0.20887	GCT		0.682	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		
SEC14L5	9717	broad.mit.edu	37	16	5009368	5009368	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:5009368C>T	ENST00000251170.7	+	2	224	c.44C>T	c.(43-45)cCg>cTg	p.P15L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	15	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.P15L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TACAAGTACCCGTTTGAGCTG	0.577																																					p.P15L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	16						.						121.0	122.0	122.0					16																	5009368		2095	4226	6321	4949369	SO:0001583	missense	9717	exon2			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.44C>T	16.37:g.5009368C>T	ENSP00000251170:p.Pro15Leu		4949369	NM_014692		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629083	0.46944	.	.	ENSG00000103184	ENST00000251170	T	0.75704	-0.96	3.77	3.77	0.43336	PRELI/MSF1 (1);	0.000000	0.64402	D	0.000016	T	0.74824	0.3767	M	0.86651	2.83	0.80722	D	1	P	0.39665	0.682	B	0.33521	0.165	T	0.81711	-0.0808	10	0.87932	D	0	-20.0528	12.9837	0.58579	0.0:1.0:0.0:0.0	.	15	O43304	S14L5_HUMAN	L	15	ENSP00000251170:P15L	ENSP00000251170:P15L	P	+	2	0	SEC14L5	4949369	0.996000	0.38824	0.943000	0.38184	0.804000	0.45430	4.927000	0.63440	2.114000	0.64651	0.462000	0.41574	CCG		0.577	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
NKD1	85407	broad.mit.edu	37	16	50659455	50659455	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:50659455G>A	ENST00000268459.3	+	6	650	c.426G>A	c.(424-426)ctG>ctA	p.L142L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	142	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L142L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CCTTCACCCTGTATGACTTTG	0.622																																					p.L142L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G426A	16						.						98.0	85.0	89.0					16																	50659455		2198	4300	6498	49216956	SO:0001819	synonymous_variant	85407	exon6			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.426G>A	16.37:g.50659455G>A			49216956	NM_033119	B2RC39|Q8WZ08	Silent	SNP	ENST00000268459.3	37	CCDS10743.1																																																																																				0.622	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		
SLC12A3	6559	broad.mit.edu	37	16	56913480	56913480	+	Silent	SNP	G	G	A	rs372425406		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:56913480G>A	ENST00000563236.1	+	11	1387	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	SLC12A3_ENST00000566786.1_Silent_p.A453A|SLC12A3_ENST00000262502.5_Silent_p.A453A|SLC12A3_ENST00000438926.2_Silent_p.A454A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	454					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.A454A(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CAGGCTTCGCGCCCCTGATCA	0.642																																					p.A454A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1362A	16						.	G	,,	0,4396		0,0,2198	63.0	52.0	56.0		1362,1359,1362	-2.9	0.9	16		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	454/1031,453/1030,454/1022	56913480	1,12995	2198	4300	6498	55470981	SO:0001819	synonymous_variant	6559	exon11				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1362G>A	16.37:g.56913480G>A			55470981	NM_000339	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																				0.642	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
NLRC5	84166	broad.mit.edu	37	16	57060174	57060174	+	Missense_Mutation	SNP	T	T	C	rs371278281		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:57060174T>C	ENST00000262510.6	+	6	1544	c.1319T>C	c.(1318-1320)aTg>aCg	p.M440T	NLRC5_ENST00000436936.1_Missense_Mutation_p.M440T|NLRC5_ENST00000308149.7_Missense_Mutation_p.M440T|NLRC5_ENST00000539144.1_Missense_Mutation_p.M440T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	440	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.M440T(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)				CAGCTCTATATGCAGATGGTG	0.647																																					p.M440T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1319C	16						.	T	THR/MET	0,4396		0,0,2198	59.0	56.0	57.0		1319	5.2	0.8	16		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRC5	NM_032206.3	81	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	benign	440/1867	57060174	1,12995	2198	4300	6498	55617675	SO:0001583	missense	84166	exon6			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.1319T>C	16.37:g.57060174T>C	ENSP00000262510:p.Met440Thr		55617675	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	3.709	-0.059952	0.07317	0.0	1.16E-4	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.71934	-0.41;-0.44;-0.61;-0.44	5.21	5.21	0.72293	.	0.611650	0.13401	N	0.390650	T	0.52468	0.1736	N	0.12569	0.235	0.24821	N	0.992586	B;B;B;B	0.22909	0.077;0.037;0.005;0.005	B;B;B;B	0.24974	0.012;0.017;0.007;0.057	T	0.40534	-0.9558	10	0.23891	T	0.37	.	10.4442	0.44483	0.0:0.0:0.1633:0.8367	.	440;440;440;440	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	T	440	ENSP00000262510:M440T;ENSP00000308886:M440T;ENSP00000389739:M440T;ENSP00000441727:M440T	ENSP00000262510:M440T	M	+	2	0	NLRC5	55617675	0.738000	0.28186	0.751000	0.31187	0.113000	0.19764	3.816000	0.55658	1.966000	0.57179	0.459000	0.35465	ATG		0.647	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
ARL2BP	23568	broad.mit.edu	37	16	57282532	57282532	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:57282532T>C	ENST00000219204.3	+	3	454	c.184T>C	c.(184-186)Tac>Cac	p.Y62H	RP11-407G23.4_ENST00000562409.1_RNA|ARL2BP_ENST00000562023.1_Intron|RP11-407G23.3_ENST00000564376.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	62					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)	p.Y62H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TAAACTCATCTACACACCTAT	0.343																																					p.Y62H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T184C	16						.						90.0	91.0	91.0					16																	57282532		2198	4300	6498	55840033	SO:0001583	missense	23568	exon3			AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.184T>C	16.37:g.57282532T>C	ENSP00000219204:p.Tyr62His		55840033	NM_012106	B3KQJ5|Q504R0	Missense_Mutation	SNP	ENST00000219204.3	37	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763986	0.89932	.	.	ENSG00000102931	ENST00000219204	T	0.48201	0.82	5.77	5.77	0.91146	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.000000	0.64402	U	0.000002	T	0.74935	0.3782	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80930	-0.1162	10	0.87932	D	0	-9.5859	16.1043	0.81209	0.0:0.0:0.0:1.0	.	30;62	B4DQD8;Q9Y2Y0	.;AR2BP_HUMAN	H	62	ENSP00000219204:Y62H	ENSP00000219204:Y62H	Y	+	1	0	ARL2BP	55840033	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.594000	0.82698	2.201000	0.70794	0.528000	0.53228	TAC		0.343	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106	
MMP15	4324	broad.mit.edu	37	16	58073844	58073844	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:58073844G>A	ENST00000219271.3	+	4	1291	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	169					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R169H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	AGGGCCTTCCGCGTGTGGGAG	0.637																																					p.R169H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	16						.						50.0	47.0	48.0					16																	58073844		2198	4300	6498	56631345	SO:0001583	missense	4324	exon4			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.506G>A	16.37:g.58073844G>A	ENSP00000219271:p.Arg169His		56631345	NM_002428	A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614122	0.46631	.	.	ENSG00000102996	ENST00000219271	T	0.23147	1.92	4.94	1.22	0.21188	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.473476	0.23896	N	0.043486	T	0.23572	0.0570	M	0.64567	1.98	0.30614	N	0.759156	B	0.13145	0.007	B	0.06405	0.002	T	0.13361	-1.0512	10	0.59425	D	0.04	.	7.7957	0.29146	0.3996:0.0:0.6004:0.0	.	169	P51511	MMP15_HUMAN	H	169	ENSP00000219271:R169H	ENSP00000219271:R169H	R	+	2	0	MMP15	56631345	0.148000	0.22702	0.233000	0.24025	0.995000	0.86356	0.933000	0.28897	-0.007000	0.14345	0.455000	0.32223	CGC		0.637	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428	
CCDC113	29070	broad.mit.edu	37	16	58292419	58292419	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:58292419C>T	ENST00000219299.4	+	4	617	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	CCDC113_ENST00000443128.2_Missense_Mutation_p.R126C	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	180						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R180C(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GGACATGAACCGCCGGAGGGT	0.418																																					p.R126C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	16						.						65.0	63.0	64.0					16																	58292419		2198	4300	6498	56849920	SO:0001583	missense	29070	exon3			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.538C>T	16.37:g.58292419C>T	ENSP00000219299:p.Arg180Cys		56849920	NM_001142302	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955130	0.53293	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.36340	1.29;1.26	5.18	4.17	0.49024	.	0.352176	0.27275	N	0.020112	T	0.60547	0.2277	M	0.85373	2.75	0.48571	D	0.999672	D;D	0.89917	1.0;1.0	D;D	0.65323	0.91;0.934	T	0.66428	-0.5926	10	0.62326	D	0.03	-4.0362	13.4729	0.61290	0.1564:0.8436:0.0:0.0	.	126;180	B4DR20;Q9H0I3	.;CC113_HUMAN	C	126;180	ENSP00000402588:R126C;ENSP00000219299:R180C	ENSP00000219299:R180C	R	+	1	0	CCDC113	56849920	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	3.463000	0.53050	2.575000	0.86900	0.655000	0.94253	CGC		0.418	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157	
FHOD1	29109	broad.mit.edu	37	16	67272026	67272026	+	Missense_Mutation	SNP	C	C	A	rs148338011		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:67272026C>A	ENST00000258201.4	-	6	800	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	185	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.G185C(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATCAGCTGGCCGAGCGCTGGG	0.597																																					p.G185C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553T	16						.						68.0	61.0	64.0					16																	67272026		2198	4300	6498	65829527	SO:0001583	missense	29109	exon6			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.553G>T	16.37:g.67272026C>A	ENSP00000258201:p.Gly185Cys		65829527	NM_013241	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355040	0.41700	.	.	ENSG00000135723	ENST00000258201	T	0.80824	-1.42	4.93	4.93	0.64822	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.101203	0.64402	D	0.000004	D	0.84524	0.5491	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	D	0.85369	0.1112	10	0.87932	D	0	.	7.2123	0.25941	0.0:0.8092:0.0:0.1908	.	185	Q9Y613	FHOD1_HUMAN	C	185	ENSP00000258201:G185C	ENSP00000258201:G185C	G	-	1	0	FHOD1	65829527	1.000000	0.71417	0.960000	0.40013	0.205000	0.24178	4.088000	0.57678	2.295000	0.77249	0.561000	0.74099	GGC		0.597	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2		
KCTD19	146212	broad.mit.edu	37	16	67328039	67328039	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:67328039G>A	ENST00000304372.5	-	12	1681	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	542					protein homooligomerization (GO:0051260)			p.C542C(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCCTGTCACTGCAGTCTTCGA	0.557																																					p.C542C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1626T	16						.						204.0	195.0	198.0					16																	67328039		2008	4192	6200	65885540	SO:0001819	synonymous_variant	146212	exon12			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1626C>T	16.37:g.67328039G>A			65885540	NM_001100915	B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	CCDS42179.1																																																																																				0.557	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
FAM65A	79567	broad.mit.edu	37	16	67575911	67575911	+	Missense_Mutation	SNP	G	G	A	rs369179324		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:67575911G>A	ENST00000379312.3	+	13	1355	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.E428K|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.E422K|FAM65A_ENST00000422602.2_Missense_Mutation_p.E428K|FAM65A_ENST00000042381.4_Missense_Mutation_p.E408K|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	412						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E408K(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)		GCAGCAGCCCGAGCCCCTTCC	0.652																																					p.E412K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1234A	16						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4394		0,0,2197	37.0	42.0	40.0		1234,1282,1264,1222	5.1	1.0	16		40	1,8599		0,1,4299	no	missense,missense,missense,missense	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	56,56,56,56	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	412/1224,428/1240,422/1234,408/1220	67575911	1,12993	2197	4300	6497	66133412	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.1234G>A	16.37:g.67575911G>A	ENSP00000368614:p.Glu412Lys		66133412	NM_001193522	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.436236|2.436236	0.43224|0.43224	0.0|0.0	1.16E-4|1.16E-4	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.15256|.	2.44;2.44;2.44|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.462385|.	0.21901|.	N|.	0.067445|.	T|T	0.27349|0.27349	0.0671|0.0671	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.29508|.	0.154;0.154;0.154;0.246|.	B;B;B;B|.	0.16289|.	0.006;0.004;0.006;0.015|.	T|T	0.14699|0.14699	-1.0463|-1.0463	10|5	0.31617|.	T|.	0.26|.	-1.6967|-1.6967	8.1461|8.1461	0.31113|0.31113	0.0874:0.2133:0.6993:0.0|0.0874:0.2133:0.6993:0.0	.|.	422;428;412;428|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	K|Q	412;408;428;422|402	ENSP00000368614:E412K;ENSP00000042381:E408K;ENSP00000400099:E428K|.	ENSP00000042381:E408K|.	E|R	+|+	1|2	0|0	FAM65A|FAM65A	66133412|66133412	0.941000|0.941000	0.31946|0.31946	0.997000|0.997000	0.53966|0.53966	0.485000|0.485000	0.33311|0.33311	3.717000|3.717000	0.54911|0.54911	2.408000|2.408000	0.81797|0.81797	0.543000|0.543000	0.68304|0.68304	GAG|CGA		0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
TSNAXIP1	55815	broad.mit.edu	37	16	67857538	67857538	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:67857538G>T	ENST00000388833.3	+	5	612	c.235G>T	c.(235-237)Gag>Tag	p.E79*	TSNAXIP1_ENST00000561639.1_Nonsense_Mutation_p.E133*|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1									p.E79*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCCTTACAGAGAGATCTTTGA	0.458																																					p.E79X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G235T	16						.						99.0	98.0	98.0					16																	67857538		1920	4160	6080	66415039	SO:0001587	stop_gained	55815	exon5			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.235G>T	16.37:g.67857538G>T	ENSP00000373485:p.Glu79*		66415039	NM_018430		Nonsense_Mutation	SNP	ENST00000388833.3	37	CCDS10846.2	.	.	.	.	.	.	.	.	.	.	G	38	6.932020	0.97944	.	.	ENSG00000102904	ENST00000388833	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.3288	18.0348	0.89296	0.0:0.0:1.0:0.0	.	.	.	.	X	79	.	ENSP00000373485:E79X	E	+	1	0	TSNAXIP1	66415039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.512000	0.73737	2.793000	0.96121	0.655000	0.94253	GAG		0.458	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430	
WWP2	11060	broad.mit.edu	37	16	69922111	69922111	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:69922111G>A	ENST00000359154.2	+	8	974	c.873G>A	c.(871-873)caG>caA	p.Q291Q	WWP2_ENST00000542271.1_Silent_p.Q175Q|WWP2_ENST00000356003.2_Silent_p.Q291Q|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.Q291Q|WWP2_ENST00000569174.1_Silent_p.Q291Q	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	291					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.Q291Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTACACAGCAGCTCCCAGCGG	0.607																																					p.Q291Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G873A	16						.						48.0	49.0	49.0					16																	69922111		2198	4300	6498	68479612	SO:0001819	synonymous_variant	11060	exon9			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.873G>A	16.37:g.69922111G>A			68479612	NM_199423	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																				0.607	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
IL34	146433	broad.mit.edu	37	16	70693626	70693626	+	Missense_Mutation	SNP	C	C	T	rs142214904	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:70693626C>T	ENST00000288098.2	+	5	891	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	IL34_ENST00000566361.1_Missense_Mutation_p.R145W|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.R170W	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	170					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.R170W(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CAACTGCTTCCGGGTCATGGA	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		17059	0.002		0.0	False		,,,				2504	0.0				p.R169W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C505T	16						.						45.0	40.0	42.0					16																	70693626		2198	4300	6498	69251127	SO:0001583	missense	146433	exon6			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.508C>T	16.37:g.70693626C>T	ENSP00000288098:p.Arg170Trp		69251127	NM_001172771	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	CCDS10895.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	19.60	3.858896	0.71834	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.52526	0.66;0.66	5.08	2.83	0.33086	.	0.358111	0.21111	N	0.079997	T	0.65585	0.2705	M	0.75447	2.3	0.39037	D	0.960052	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.70923	-0.4740	10	0.87932	D	0	-20.4635	11.4312	0.50041	0.3876:0.6124:0.0:0.0	.	169;170	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	W	170	ENSP00000397863:R170W;ENSP00000288098:R170W	ENSP00000288098:R170W	R	+	1	2	IL34	69251127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.743000	0.26231	1.071000	0.40834	0.462000	0.41574	CGG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456	
HYDIN	54768	broad.mit.edu	37	16	71127814	71127814	+	Missense_Mutation	SNP	C	C	T	rs7200485	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:71127814C>T	ENST00000393567.2	-	11	1502	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	HYDIN_ENST00000538248.1_Missense_Mutation_p.R478Q|HYDIN_ENST00000321489.5_Missense_Mutation_p.R451Q|HYDIN_ENST00000541601.1_Missense_Mutation_p.R468Q|HYDIN_ENST00000288168.10_Missense_Mutation_p.R468Q|HYDIN_ENST00000393550.2_Missense_Mutation_p.R451Q|HYDIN_ENST00000448691.1_Missense_Mutation_p.R451Q|RP11-23E19.1_ENST00000563968.1_RNA|HYDIN_ENST00000448089.2_Missense_Mutation_p.R451Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	451			R -> P (in dbSNP:rs7200485).		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.R451Q(7)		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)				CCCTTTGATTCGGAGGGGCAG	0.428																																					p.R451Q												.	.	7	Substitution - Missense(7)	large_intestine(7)	c.G1352A	16						.						52.0	52.0	52.0					16																	71127814		2198	4300	6498	69685315	SO:0001583	missense	54768	exon11			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.1352G>A	16.37:g.71127814C>T	ENSP00000377197:p.Arg451Gln		69685315	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939087	0.52972	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.13778	5.63;3.81;3.84;3.84;3.79;3.79;3.45;2.56	4.95	4.95	0.65309	.	0.000000	0.29260	U	0.012674	T	0.30572	0.0769	L	0.49350	1.555	0.40935	D	0.984426	D;D;B;D;D	0.89917	0.971;0.971;0.417;0.971;1.0	P;P;B;P;D	0.83275	0.507;0.507;0.119;0.507;0.996	T	0.04115	-1.0976	10	0.14656	T	0.56	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	478;468;468;451;451	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	Q	451;451;451;451;451;478;468;468;451	ENSP00000377197:R451Q;ENSP00000398544:R451Q;ENSP00000394826:R451Q;ENSP00000314736:R451Q;ENSP00000444970:R478Q;ENSP00000437341:R468Q;ENSP00000288168:R468Q;ENSP00000377181:R451Q	ENSP00000288168:R468Q	R	-	2	0	HYDIN	69685315	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.908000	0.48750	2.337000	0.79520	0.194000	0.17425	CGA		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
ZNF19	7567	broad.mit.edu	37	16	71509701	71509701	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:71509701C>G	ENST00000288177.5	-	6	1004	c.749G>C	c.(748-750)tGt>tCt	p.C250S	ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.C250S|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.C180S|ZNF19_ENST00000565637.1_Missense_Mutation_p.C208S	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	250					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.C250Y(1)|p.C250S(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACTATTCCCACACTCTGTACA	0.443																																					p.C250S												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G749C	16						.						106.0	112.0	110.0					16																	71509701		2198	4300	6498	70067202	SO:0001583	missense	7567	exon6			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.749G>C	16.37:g.71509701C>G	ENSP00000288177:p.Cys250Ser		70067202	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184743	0.38609	.	.	ENSG00000157429	ENST00000288177	D	0.85861	-2.04	3.49	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38548	N	0.001657	D	0.93556	0.7943	M	0.93898	3.47	0.47009	D	0.999289	D	0.76494	0.999	D	0.79784	0.993	D	0.94782	0.7954	10	0.87932	D	0	.	13.3384	0.60530	0.0:1.0:0.0:0.0	.	250	P17023	ZNF19_HUMAN	S	250	ENSP00000288177:C250S	ENSP00000288177:C250S	C	-	2	0	ZNF19	70067202	1.000000	0.71417	0.992000	0.48379	0.221000	0.24807	4.586000	0.60984	2.250000	0.74265	0.655000	0.94253	TGT		0.443	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
CHST4	10164	broad.mit.edu	37	16	71571006	71571006	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:71571006A>G	ENST00000338482.5	+	3	769	c.426A>G	c.(424-426)ccA>ccG	p.P142P	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.P142P|CHST4_ENST00000539698.3_Silent_p.P142P|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	142					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.P142P(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACATCATCCCACAAGATGAAA	0.597																																					p.P142P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A426G	16						.						58.0	61.0	60.0					16																	71571006		2198	4300	6498	70128507	SO:0001819	synonymous_variant	10164	exon2			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.426A>G	16.37:g.71571006A>G			70128507	NM_001166395	Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	CCDS10902.1																																																																																				0.597	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769	
AP1G1	164	broad.mit.edu	37	16	71773224	71773224	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:71773224C>T	ENST00000299980.4	-	20	2461	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	AP1G1_ENST00000569748.1_Missense_Mutation_p.A674T|AP1G1_ENST00000423132.2_Missense_Mutation_p.A677T|AP1G1_ENST00000393512.3_Missense_Mutation_p.A677T|AP1G1_ENST00000433195.2_Missense_Mutation_p.A697T|AP1G1_ENST00000564155.1_Missense_Mutation_p.A99T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	674					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.A674T(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GAGGCAGGGGCAGGAGCAGCA	0.453																																					p.A677T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2029A	16						.						61.0	64.0	63.0					16																	71773224		2198	4300	6498	70330725	SO:0001583	missense	164	exon21			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2020G>A	16.37:g.71773224C>T	ENSP00000299980:p.Ala674Thr		70330725	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	7.527	0.657936	0.14645	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.15139	2.46;2.46;2.47;2.45	4.78	-4.88	0.03113	.	0.766497	0.13010	N	0.420967	T	0.04092	0.0114	N	0.01705	-0.755	0.26931	N	0.966473	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.40979	-0.9534	10	0.12430	T	0.62	1.3527	6.017	0.19608	0.132:0.2841:0.0:0.5838	.	674;697;677	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	T	674;677;677;697	ENSP00000299980:A674T;ENSP00000377148:A677T;ENSP00000409153:A677T;ENSP00000403259:A697T	ENSP00000299980:A674T	A	-	1	0	AP1G1	70330725	1.000000	0.71417	0.387000	0.26183	0.896000	0.52359	1.723000	0.38053	-0.978000	0.03533	-0.302000	0.09304	GCC		0.453	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
ZNF821	55565	broad.mit.edu	37	16	71894306	71894306	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:71894306C>T	ENST00000565601.1	-	7	1261	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	ZNF821_ENST00000564134.1_3'UTR|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000425432.1_Missense_Mutation_p.R285Q|ZNF821_ENST00000313565.6_Missense_Mutation_p.R243Q|ZNF821_ENST00000446827.2_Missense_Mutation_p.R243Q	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	285					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.R243Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CTCATTGTCCCGCCGGCTCTT	0.642																																					p.R243Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	16						.						44.0	42.0	42.0					16																	71894306		2198	4300	6498	70451807	SO:0001583	missense	55565	exon6			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.854G>A	16.37:g.71894306C>T	ENSP00000455648:p.Arg285Gln		70451807	NM_017530	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468060	0.96257	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.02140	6.03;4.43;4.43	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.72982	0.968;0.979;0.968	T	0.00123	-1.2025	10	0.87932	D	0	-11.252	19.9352	0.97137	0.0:1.0:0.0:0.0	.	285;243;285	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	Q	285;243;243	ENSP00000398089:R285Q;ENSP00000313822:R243Q;ENSP00000405908:R243Q	ENSP00000313822:R243Q	R	-	2	0	ZNF821	70451807	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.228000	0.78079	2.703000	0.92315	0.655000	0.94253	CGG		0.642	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530	
DHODH	1723	broad.mit.edu	37	16	72046133	72046133	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:72046133G>A	ENST00000219240.4	+	2	227	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000572887.1_Missense_Mutation_p.R69Q	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	69					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)	p.R69Q(1)		breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CTCCTTCCACGGGCCAGATTT	0.562																																					p.R69Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G206A	16						.						52.0	57.0	55.0					16																	72046133		2143	4273	6416	70603634	SO:0001583	missense	1723	exon2				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.206G>A	16.37:g.72046133G>A	ENSP00000219240:p.Arg69Gln		70603634	NM_001361	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533593	0.27387	.	.	ENSG00000102967	ENST00000219240	D	0.94092	-3.35	4.73	3.77	0.43336	Aldolase-type TIM barrel (1);	0.441573	0.24766	N	0.035769	D	0.87305	0.6144	L	0.43152	1.355	0.35098	D	0.764931	B	0.26002	0.139	B	0.10450	0.005	D	0.84374	0.0545	10	0.31617	T	0.26	-2.8062	5.7946	0.18379	0.0986:0.0:0.7102:0.1912	.	69	Q02127	PYRD_HUMAN	Q	69	ENSP00000219240:R69Q	ENSP00000219240:R69Q	R	+	2	0	DHODH	70603634	0.752000	0.28338	0.827000	0.32855	0.574000	0.36063	1.447000	0.35101	1.198000	0.43158	0.462000	0.41574	CGG		0.562	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361	
CLEC18B	497190	broad.mit.edu	37	16	74443484	74443484	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:74443484G>A	ENST00000339953.5	-	12	1415	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	432	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R432C(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTTTTGCAGCGCTGGTCGTTC	0.597																																					p.R432C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1294T	16						.						62.0	58.0	60.0					16																	74443484		2196	4292	6488	73000985	SO:0001583	missense	497190	exon12			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1294C>T	16.37:g.74443484G>A	ENSP00000341051:p.Arg432Cys		73000985	NM_001011880	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	13.46	2.243283	0.39697	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.55588	0.51	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.069626	0.64402	D	0.000019	T	0.57533	0.2060	M	0.90650	3.135	0.52099	D	0.999948	B;B	0.26775	0.069;0.159	B;B	0.23150	0.044;0.044	T	0.64491	-0.6395	10	0.54805	T	0.06	.	10.7141	0.46002	0.0:0.0:1.0:0.0	.	423;432	C9JSV1;Q6UXF7	.;CL18B_HUMAN	C	423;432	ENSP00000341051:R432C	ENSP00000341051:R432C	R	-	1	0	CLEC18B	73000985	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	7.802000	0.85969	1.866000	0.54105	0.430000	0.28490	CGC		0.597	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880	
GLG1	2734	broad.mit.edu	37	16	74530355	74530355	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:74530355T>C	ENST00000422840.2	-	5	961	c.962A>G	c.(961-963)gAg>gGg	p.E321G	GLG1_ENST00000447066.2_Missense_Mutation_p.E310G|GLG1_ENST00000205061.5_Missense_Mutation_p.E321G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	321					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E321G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACAAAAACGCTCCCGATCATC	0.368																																					p.E310G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A929G	16						.						56.0	61.0	60.0					16																	74530355		2198	4300	6498	73087856	SO:0001583	missense	2734	exon4				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.962A>G	16.37:g.74530355T>C	ENSP00000405984:p.Glu321Gly		73087856	NM_001145666	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418862	0.83559	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.94	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79784	0.993;0.97;0.963	T	0.76016	-0.3113	9	0.35671	T	0.21	-6.6317	11.8346	0.52316	0.0:0.0679:0.0:0.9321	.	321;321;310	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	G	321;310;321	.	ENSP00000205061:E321G	E	-	2	0	GLG1	73087856	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.800000	0.85949	1.080000	0.41073	0.528000	0.53228	GAG		0.368	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
ADAMTS18	170692	broad.mit.edu	37	16	77401507	77401507	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:77401507G>A	ENST00000282849.5	-	4	1027	c.609C>T	c.(607-609)taC>taT	p.Y203Y	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	203					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y203Y(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGTCCTTTTGTACAGTACGT	0.542																																					p.Y203Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C609T	16						.						112.0	97.0	102.0					16																	77401507		2198	4300	6498	75959008	SO:0001819	synonymous_variant	170692	exon4			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.609C>T	16.37:g.77401507G>A			75959008	NM_199355	Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
VAT1L	57687	broad.mit.edu	37	16	77822783	77822783	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:77822783C>T	ENST00000302536.2	+	1	357	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	68							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.D68D(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGCCTCAGGACGGCGAGCTCA	0.662																																					p.D68D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204T	16						.						27.0	33.0	31.0					16																	77822783		2177	4277	6454	76380284	SO:0001819	synonymous_variant	57687	exon1			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.204C>T	16.37:g.77822783C>T			76380284	NM_020927	Q8IYW8	Silent	SNP	ENST00000302536.2	37	CCDS32492.1																																																																																				0.662	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
SLC38A8	146167	broad.mit.edu	37	16	84043424	84043424	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:84043424G>T	ENST00000299709.3	-	10	1272	c.1273C>A	c.(1273-1275)Cag>Aag	p.Q425K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	425					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.Q425K(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCGTGCTCTGCCCAAAGATG	0.602																																					p.Q425K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1273A	16						.						47.0	51.0	49.0					16																	84043424		2200	4300	6500	82600925	SO:0001583	missense	146167	exon10				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1273C>A	16.37:g.84043424G>T	ENSP00000299709:p.Gln425Lys		82600925	NM_001080442		Missense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558773	0.65538	.	.	ENSG00000166558	ENST00000299709	T	0.11277	2.79	4.92	4.92	0.64577	.	0.128838	0.53938	D	0.000048	T	0.34221	0.0890	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.06752	-1.0809	10	0.30078	T	0.28	-15.7927	15.6184	0.76787	0.0:0.0:1.0:0.0	.	425	A6NNN8	S38A8_HUMAN	K	425	ENSP00000299709:Q425K	ENSP00000299709:Q425K	Q	-	1	0	SLC38A8	82600925	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	8.282000	0.89907	2.285000	0.76669	0.549000	0.68633	CAG		0.602	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442	
ZDHHC7	55625	broad.mit.edu	37	16	85024144	85024144	+	Silent	SNP	C	C	T	rs139426376		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:85024144C>T	ENST00000313732.4	-	3	433	c.81G>A	c.(79-81)tcG>tcA	p.S27S	ZDHHC7_ENST00000564466.1_Silent_p.S27S|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	27					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S27S(1)		large_intestine(6)|lung(4)	10						AGGAGGAGGACGATGAAGAGT	0.582																																					p.S27S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G81A	16						.	C	,	4,4394	8.1+/-20.4	0,4,2195	99.0	78.0	85.0		81,81	-1.7	0.2	16	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZDHHC7	NM_001145548.1,NM_017740.2	,	0,4,6495	TT,TC,CC		0.0,0.091,0.0308	,	27/346,27/309	85024144	4,12994	2199	4300	6499	83581645	SO:0001819	synonymous_variant	55625	exon3			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.81G>A	16.37:g.85024144C>T			83581645	NM_017740	D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	ENST00000313732.4	37	CCDS10950.1																																																																																				0.582	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740	
ZC3H18	124245	broad.mit.edu	37	16	88666254	88666254	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:88666254G>T	ENST00000301011.5	+	6	1186	c.986G>T	c.(985-987)aGg>aTg	p.R329M	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R353M	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	329						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R329M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAAGAGAAAAGGTTTACGGTG	0.398																																					p.R329M	Ovarian(121;375 2276 20373 38669)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G986T	16						.						144.0	165.0	157.0					16																	88666254		2198	4300	6498	87193755	SO:0001583	missense	124245	exon6			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.986G>T	16.37:g.88666254G>T	ENSP00000301011:p.Arg329Met		87193755	NM_144604	Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991774	0.74703	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.42513	0.97;0.97	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.64786	-0.6325	10	0.72032	D	0.01	-28.5501	16.815	0.85732	0.0:0.0:1.0:0.0	.	353;353;329	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	M	329;353;353;212	ENSP00000301011:R329M;ENSP00000416951:R353M	ENSP00000289509:R353M	R	+	2	0	ZC3H18	87193755	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	9.201000	0.95017	2.390000	0.81377	0.561000	0.74099	AGG		0.398	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
CHMP1A	5119	broad.mit.edu	37	16	89718016	89718016	+	Silent	SNP	C	C	T	rs183210691	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:89718016C>T	ENST00000397901.3	-	3	322	c.66G>A	c.(64-66)gcG>gcA	p.A22A	CHMP1A_ENST00000550102.1_Silent_p.A22A|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.G16R|CHMP1A_ENST00000535997.2_5'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	22					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.G16R(1)		endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		AGTCCTTCTCCGCCTTCTTGG	0.612													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15947	0.002		0.0	False		,,,				2504	0.0				p.G16R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G46A	16						.						74.0	81.0	79.0					16																	89718016		2033	4177	6210	88245517	SO:0001819	synonymous_variant	5119	exon2			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.66G>A	16.37:g.89718016C>T			88245517	NM_001083314	A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	CCDS45552.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.94	1.493541	0.26774	.	.	ENSG00000131165	ENST00000253475	.	.	.	4.81	-9.62	0.00547	.	1.040050	0.07714	N	0.942603	T	0.22589	0.0545	.	.	.	0.09310	N	0.999997	B	0.19200	0.034	B	0.12837	0.008	T	0.31336	-0.9947	8	0.87932	D	0	.	2.6586	0.05019	0.2857:0.0891:0.139:0.4863	.	16	A6NG32	.	R	16	.	ENSP00000253475:G16R	G	-	1	0	CHMP1A	88245517	0.000000	0.05858	0.792000	0.32020	0.982000	0.71751	-3.406000	0.00482	-2.188000	0.00758	-0.345000	0.07892	GGA		0.612	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768	
DNAJA3	9093	broad.mit.edu	37	16	4498736	4498736	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:4498736delC	ENST00000262375.6	+	9	1205	c.1128delC	c.(1126-1128)atcfs	p.I376fs	DNAJA3_ENST00000431375.2_Frame_Shift_Del_p.I223fs|DNAJA3_ENST00000355296.4_Frame_Shift_Del_p.I376fs	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	376					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.P378fs*39(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTTTATAGATCCCCCCTGGGA	0.458																																					p.I376fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1128delC	16						.						42.0	39.0	40.0					16																	4498736		2197	4300	6497	4438737	SO:0001589	frameshift_variant	9093	exon9			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1128delC	16.37:g.4498736delC	ENSP00000262375:p.Ile376fs		4438737	NM_001135110	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Frame_Shift_Del	DEL	ENST00000262375.6	37	CCDS10515.1																																																																																				0.458	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1		
FANCA	2175	broad.mit.edu	37	16	89833630	89833630	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr16:89833630T>C	ENST00000389301.3	-	27	2550	c.2520A>G	c.(2518-2520)gcA>gcG	p.A840A	FANCA_ENST00000568369.1_Silent_p.A840A	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	840					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A840A(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGTAAGAAATTGCTGCTGTAC	0.338			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.A840A		yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2520G	16						.						72.0	76.0	75.0					16																	89833630		2198	4300	6498	88361131	SO:0001819	synonymous_variant	2175	exon27	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2520A>G	16.37:g.89833630T>C			88361131	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																				0.338	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		
MYH8	4626	broad.mit.edu	37	17	10323355	10323355	+	Missense_Mutation	SNP	C	C	T	rs372076449		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:10323355C>T	ENST00000403437.2	-	3	284	c.190G>A	c.(190-192)Gta>Ata	p.V64I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	64					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.V64I(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCAGTCTTTACGGTTACTTTC	0.418									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.V64I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190A	17						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	323.0	311.0	315.0		190	4.6	0.9	17		315	0,8600		0,0,4300	no	missense	MYH8	NM_002472.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	64/1938	10323355	1,13005	2203	4300	6503	10264080	SO:0001583	missense	4626	exon3	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.190G>A	17.37:g.10323355C>T	ENSP00000384330:p.Val64Ile		10264080	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341302	0.60963	2.27E-4	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90563	-2.69	4.59	4.59	0.56863	Myosin, N-terminal, SH3-like (1);	0.000000	0.37577	U	0.002028	D	0.91805	0.7407	M	0.82923	2.615	0.58432	D	0.999996	B	0.10296	0.003	B	0.25291	0.059	D	0.90296	0.4326	10	0.56958	D	0.05	.	17.5857	0.87981	0.0:1.0:0.0:0.0	.	64	P13535	MYH8_HUMAN	I	64	ENSP00000384330:V64I	ENSP00000252173:V64I	V	-	1	0	MYH8	10264080	0.999000	0.42202	0.934000	0.37439	0.768000	0.43524	5.753000	0.68736	2.395000	0.81488	0.467000	0.42956	GTA		0.418	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH4	4622	broad.mit.edu	37	17	10359004	10359004	+	Missense_Mutation	SNP	C	C	T	rs143134132		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:10359004C>T	ENST00000255381.2	-	19	2211	c.2101G>A	c.(2101-2103)Ggt>Agt	p.G701S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	701	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.G701S(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGCACACCGTTACACCTC	0.493																																					p.G701S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2101A	17						.	C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	90.0	77.0	81.0		2101	4.9	0.8	17	dbSNP_134	81	0,8596		0,0,4298	no	missense	MYH4	NM_017533.2	56	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	701/1940	10359004	1,13001	2203	4298	6501	10299729	SO:0001583	missense	4622	exon19				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2101G>A	17.37:g.10359004C>T	ENSP00000255381:p.Gly701Ser		10299729	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048143	0.75846	2.27E-4	0.0	ENSG00000141048	ENST00000255381	D	0.98666	-5.06	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.38164	U	0.001785	D	0.99381	0.9782	H	0.95611	3.695	0.80722	D	1	D	0.53462	0.96	D	0.63488	0.915	D	0.98550	1.0636	10	0.87932	D	0	.	18.5313	0.90993	0.0:1.0:0.0:0.0	.	701	Q9Y623	MYH4_HUMAN	S	701	ENSP00000255381:G701S	ENSP00000255381:G701S	G	-	1	0	MYH4	10299729	1.000000	0.71417	0.820000	0.32676	0.409000	0.31022	7.689000	0.84165	2.445000	0.82738	0.305000	0.20034	GGT		0.493	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
RTN4RL1	146760	broad.mit.edu	37	17	1840206	1840206	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:1840206A>G	ENST00000331238.6	-	2	1389	c.910T>C	c.(910-912)Tgc>Cgc	p.C304R		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1									p.C304R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGTCCCGTGCAGTTCCGGAAG	0.692																																					p.C304R	GBM(68;949 1139 14865 32798 38342)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T910C	17						.						15.0	18.0	17.0					17																	1840206		2162	4252	6414	1786956	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.910T>C	17.37:g.1840206A>G	ENSP00000330631:p.Cys304Arg		1786956	NM_178568		Missense_Mutation	SNP	ENST00000331238.6	37	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101032	0.56183	.	.	ENSG00000185924	ENST00000331238	T	0.70631	-0.5	4.94	4.94	0.65067	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.42964	D	0.000621	D	0.84951	0.5586	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87284	0.2294	10	0.87932	D	0	.	10.087	0.42423	0.9214:0.0:0.0786:0.0	.	304	Q86UN2	R4RL1_HUMAN	R	304	ENSP00000330631:C304R	ENSP00000330631:C304R	C	-	1	0	RTN4RL1	1786956	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.992000	0.76238	2.088000	0.63022	0.524000	0.50904	TGC		0.692	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568	
NCOR1	9611	broad.mit.edu	37	17	15995264	15995264	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:15995264G>A	ENST00000268712.3	-	22	3186	c.2929C>T	c.(2929-2931)Cgg>Tgg	p.R977W	NCOR1_ENST00000395848.1_Missense_Mutation_p.R884W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R993W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	977					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.R977W(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)		TGTCTCTGCCGCTGCTCCTCC	0.483																																					p.R993W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2977T	17						.						152.0	142.0	145.0					17																	15995264		2203	4300	6503	15935989	SO:0001583	missense	9611	exon21			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.2929C>T	17.37:g.15995264G>A	ENSP00000268712:p.Arg977Trp		15935989	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895591	0.72639	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.44482	0.92;0.92;0.92	5.26	4.27	0.50696	.	0.213738	0.47093	D	0.000245	T	0.57140	0.2033	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.928;0.982;0.996	T	0.60078	-0.7333	10	0.87932	D	0	-8.7548	12.3602	0.55199	0.0:0.0:0.6935:0.3065	.	884;884;977;993	E9PGV6;Q7Z516;O75376;O75376-2	.;.;NCOR1_HUMAN;.	W	977;993;884;884	ENSP00000268712:R977W;ENSP00000379192:R993W;ENSP00000379189:R884W	ENSP00000268712:R977W	R	-	1	2	NCOR1	15935989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.523000	0.60545	1.294000	0.44707	0.650000	0.86243	CGG		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
MYO15A	51168	broad.mit.edu	37	17	18054732	18054732	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:18054732C>T	ENST00000205890.5	+	40	8016	c.7678C>T	c.(7678-7680)Cgg>Tgg	p.R2560W	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2560	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2560W(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAGCTGGTCCGGTACTCTAC	0.627																																					p.R2560W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7678T	17						.						68.0	73.0	71.0					17																	18054732		2085	4220	6305	17995457	SO:0001583	missense	51168	exon39			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7678C>T	17.37:g.18054732C>T	ENSP00000205890:p.Arg2560Trp		17995457	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948009	0.53186	.	.	ENSG00000091536	ENST00000205890	D	0.90069	-2.61	5.25	4.27	0.50696	.	.	.	.	.	D	0.92358	0.7575	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.92949	0.6379	9	0.66056	D	0.02	.	15.1104	0.72351	0.1432:0.8568:0.0:0.0	.	2560	Q9UKN7	MYO15_HUMAN	W	2560	ENSP00000205890:R2560W	ENSP00000205890:R2560W	R	+	1	2	MYO15A	17995457	0.623000	0.27094	0.990000	0.47175	0.843000	0.47879	1.161000	0.31773	1.322000	0.45245	-0.181000	0.13052	CGG		0.627	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
TOP3A	7156	broad.mit.edu	37	17	18202896	18202896	+	Missense_Mutation	SNP	G	G	A	rs138933272	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:18202896G>A	ENST00000321105.5	-	9	1181	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.R228W	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	323					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.R323W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCTTGAGGCCGCCACTTGCTC	0.507																																					p.R323W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C967T	17						.						317.0	278.0	291.0					17																	18202896		2203	4300	6503	18143621	SO:0001583	missense	7156	exon9			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.967C>T	17.37:g.18202896G>A	ENSP00000321636:p.Arg323Trp		18143621	NM_004618	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.138423|2.138423	0.37728|0.37728	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000412083|ENST00000321105;ENST00000542570	.|T;T	.|0.24151	.|1.87;1.88	5.5|5.5	0.556|0.556	0.17253|0.17253	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63189|0.63189	0.2490|0.2490	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.76377|0.76377	-0.2981|-0.2981	5|10	.|0.87932	.|D	.|0	-31.4551|-31.4551	15.473|15.473	0.75456|0.75456	0.0:0.0:0.5448:0.4552|0.0:0.0:0.5448:0.4552	.|.	.|228;323	.|B4DK80;Q13472	.|.;TOP3A_HUMAN	V|W	302|323;228	.|ENSP00000321636:R323W;ENSP00000442336:R228W	.|ENSP00000321636:R323W	A|R	-|-	2|1	0|2	TOP3A|TOP3A	18143621|18143621	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	2.644000|2.644000	0.46613|0.46613	-0.101000|-0.101000	0.12219|0.12219	0.644000|0.644000	0.83932|0.83932	GCG|CGG		0.507	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2		
FBXW10	10517	broad.mit.edu	37	17	18675940	18675940	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:18675940T>C	ENST00000395665.4	+	12	2443	c.2222T>C	c.(2221-2223)cTa>cCa	p.L741P	FBXW10_ENST00000308799.4_Missense_Mutation_p.L770P|FBXW10_ENST00000395667.1_Missense_Mutation_p.L741P|FBXW10_ENST00000301938.4_Missense_Mutation_p.L688P|FBXW10_ENST00000573605.1_3'UTR			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	741								p.L741P(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAAGAGCTCCTACCAGGCAAA	0.443																																					p.L741P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2222C	17						.						125.0	139.0	134.0					17																	18675940		2203	4300	6503	18616665	SO:0001583	missense	10517	exon12			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2222T>C	17.37:g.18675940T>C	ENSP00000379025:p.Leu741Pro		18616665	NM_031456	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483560	0.26598	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.62788	0.04;0.23;-0.0;0.16	3.89	0.411	0.16392	.	0.401335	0.13910	U	0.354289	T	0.67011	0.2848	L	0.56769	1.78	0.09310	N	1	D;D;D;D	0.69078	0.997;0.993;0.994;0.993	D;P;P;P	0.66351	0.943;0.884;0.879;0.884	T	0.55347	-0.8155	10	0.72032	D	0.01	.	2.3589	0.04302	0.2117:0.2417:0.0:0.5466	.	688;770;741;741	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	P	741;770;688;741	ENSP00000379026:L741P;ENSP00000310382:L770P;ENSP00000306937:L688P;ENSP00000379025:L741P	ENSP00000306937:L688P	L	+	2	0	FBXW10	18616665	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.063000	0.11655	0.031000	0.15407	-0.376000	0.06991	CTA		0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
GRAP	10750	broad.mit.edu	37	17	18927546	18927546	+	Silent	SNP	G	G	A	rs9893211		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:18927546G>A	ENST00000284154.5	-	4	1160	c.450C>T	c.(448-450)gaC>gaT	p.D150D	GRAP_ENST00000573099.1_Intron|GRAP_ENST00000395635.1_Silent_p.D121D	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	150	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)	p.D150D(1)		large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					AGGGCTCCTCGTCGCGCAGGA	0.622																																					p.D150D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	17						.						30.0	24.0	26.0					17																	18927546		2203	4298	6501	18868271	SO:0001819	synonymous_variant	10750	exon4			U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016		"""SH2 domain containing"""	4562	protein-coding gene	gene with protein product		604330				8647802, 8995379	Standard	NM_006613		Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000284154.5:c.450C>T	17.37:g.18927546G>A			18868271	NM_006613		Silent	SNP	ENST00000284154.5	37	CCDS11202.1																																																																																				0.622	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132176.2	NM_006613	
SPECC1	92521	broad.mit.edu	37	17	20108849	20108849	+	Missense_Mutation	SNP	G	G	A	rs181092726		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:20108849G>A	ENST00000261503.5	+	4	1538	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.R415Q|SPECC1_ENST00000395525.3_Missense_Mutation_p.R415Q|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395529.3_Missense_Mutation_p.R496Q|SPECC1_ENST00000395530.2_Missense_Mutation_p.R415Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.R496Q|SPECC1_ENST00000536879.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	496					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.R496Q(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGTAGCTTGCGGAAGGTTGAG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20179	0.0		0.0	False		,,,				2504	0.0				p.R415Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1244A	17						.						68.0	72.0	71.0					17																	20108849		2203	4300	6503	20049441	SO:0001583	missense	92521	exon2			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1487G>A	17.37:g.20108849G>A	ENSP00000261503:p.Arg496Gln		20049441	NM_001033555	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	28.8	4.954001	0.92660	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.65549	-0.16;2.84;2.84;2.84	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.89917	0.973;1.0;1.0;1.0;0.987	B;D;D;D;P	0.87578	0.394;0.998;0.998;0.998;0.672	T	0.79827	-0.1639	10	0.56958	D	0.05	-24.5629	17.4622	0.87622	0.0:0.0:1.0:0.0	.	496;415;415;496;496	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	Q	496;496;496;415;415;415	ENSP00000261503:R496Q;ENSP00000378900:R496Q;ENSP00000378893:R415Q;ENSP00000378896:R415Q	ENSP00000261503:R496Q	R	+	2	0	SPECC1	20049441	1.000000	0.71417	0.459000	0.27081	0.964000	0.63967	7.658000	0.83755	2.808000	0.96608	0.655000	0.94253	CGG		0.413	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	
MAP2K3	5606	broad.mit.edu	37	17	21217526	21217526	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:21217526T>C	ENST00000342679.4	+	12	1277	c.1028T>C	c.(1027-1029)cTg>cCg	p.L343P	MAP2K3_ENST00000316920.6_Missense_Mutation_p.L314P|MAP2K3_ENST00000361818.5_Missense_Mutation_p.L314P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	343					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.L347P(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGGAGATCCTGGGAGAAGAC	0.607																																					p.L314P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T941C	17						.						240.0	234.0	236.0					17																	21217526		2203	4300	6503	21158119	SO:0001583	missense	5606	exon12			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.1028T>C	17.37:g.21217526T>C	ENSP00000345083:p.Leu343Pro		21158119	NM_002756	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.256843	0.59321	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.73575	-0.76;-0.74	4.9	3.8	0.43715	.	0.000000	0.41294	D	0.000909	D	0.85217	0.5646	M	0.86028	2.79	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	D	0.86131	0.1575	10	0.87932	D	0	-20.4328	11.6366	0.51207	0.0:0.0:0.1492:0.8508	.	343	P46734	MP2K3_HUMAN	P	343;314;314;347	ENSP00000345083:L343P;ENSP00000355081:L314P	ENSP00000319139:L347P	L	+	2	0	MAP2K3	21158119	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.299000	0.78831	0.683000	0.31428	0.402000	0.26972	CTG		0.607	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
NLK	51701	broad.mit.edu	37	17	26518186	26518186	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:26518186C>A	ENST00000407008.3	+	9	2094	c.1376C>A	c.(1375-1377)aCc>aAc	p.T459N		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	459	Required for homodimerization and kinase activation and localization to the nucleus. {ECO:0000250}.|Required for interaction with TAB2. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAGCCTGTCACCAATCCCAAA	0.443																																					p.T459N												.	.	0			c.C1376A	17						.						128.0	105.0	113.0					17																	26518186		2203	4300	6503	23542313	SO:0001583	missense	51701	exon9			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1376C>A	17.37:g.26518186C>A	ENSP00000384625:p.Thr459Asn		23542313	NM_016231	B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761487	0.69763	.	.	ENSG00000087095	ENST00000407008	T	0.70631	-0.5	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	N	0.03608	-0.345	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.51442	-0.8705	10	0.59425	D	0.04	-3.1184	19.1228	0.93371	0.0:1.0:0.0:0.0	.	459	Q9UBE8	NLK_HUMAN	N	459	ENSP00000384625:T459N	ENSP00000384625:T459N	T	+	2	0	NLK	23542313	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.247000	0.78257	2.765000	0.95021	0.655000	0.94253	ACC		0.443	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231	
SARM1	23098	broad.mit.edu	37	17	26711399	26711399	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:26711399C>T	ENST00000457710.3	+	3	1482	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	371					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)		p.I369I(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCGGCGCCATCCAGAGCCTGA	0.657																																					p.P371S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1111T	17						.						49.0	49.0	49.0					17																	26711399		2203	4300	6503	23735526	SO:0001819	synonymous_variant	23098	exon3			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1011C>T	17.37:g.26711399C>T			23735526	NM_015077	O60277|Q7LGG3|Q9NXY5	Silent	SNP	ENST00000457710.3	37																																																																																					0.657	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077	
RAP1GAP2	23108	broad.mit.edu	37	17	2867170	2867170	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:2867170G>A	ENST00000254695.8	+	7	390	c.300G>A	c.(298-300)ccG>ccA	p.P100P	RAP1GAP2_ENST00000540393.2_Silent_p.P81P|RAP1GAP2_ENST00000366401.4_Silent_p.P85P|RAP1GAP2_ENST00000542807.1_Silent_p.P100P|CTD-3060P21.1_ENST00000574885.1_RNA	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	100					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.P100P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGGGAGGCCCGTACCCTCAGG	0.672																																					p.P100P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	17						.						24.0	27.0	26.0					17																	2867170		1984	4151	6135	2813920	SO:0001819	synonymous_variant	23108	exon7			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.300G>A	17.37:g.2867170G>A			2813920	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	CCDS45573.1																																																																																				0.672	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2		
FOXN1	8456	broad.mit.edu	37	17	26861380	26861380	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:26861380G>A	ENST00000226247.2	+	6	988	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320Q	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R320Q(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AATTCTGTCCGGCACAACCTA	0.577																																					p.R320Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959A	17						.						81.0	79.0	80.0					17																	26861380		2203	4300	6503	23885507	SO:0001583	missense	8456	exon6			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.959G>A	17.37:g.26861380G>A	ENSP00000226247:p.Arg320Gln		23885507	NM_003593	B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679260	0.96774	.	.	ENSG00000109101	ENST00000226247	D	0.98060	-4.69	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98166	1.0449	10	0.87932	D	0	.	19.8853	0.96910	0.0:0.0:1.0:0.0	.	320	O15353	FOXN1_HUMAN	Q	320	ENSP00000226247:R320Q	ENSP00000226247:R320Q	R	+	2	0	FOXN1	23885507	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.701000	0.92244	0.655000	0.94253	CGG		0.577	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		
ACACA	31	broad.mit.edu	37	17	35545377	35545377	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:35545377C>T	ENST00000394406.2	-	39	4695	c.4505G>A	c.(4504-4506)cGc>cAc	p.R1502H	ACACA_ENST00000353139.5_Missense_Mutation_p.R1539H|ACACA_ENST00000335166.5_Missense_Mutation_p.R1424H|ACACA_ENST00000360679.3_Missense_Mutation_p.R1444H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1502					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R1444H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCCACAGGCGACTTCCATA	0.478																																					p.R1539H	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4616A	17						.						168.0	154.0	159.0					17																	35545377		2203	4300	6503	32619490	SO:0001583	missense	31	exon39			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4505G>A	17.37:g.35545377C>T	ENSP00000377928:p.Arg1502His		32619490	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369292	0.95900	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.6	5.6	0.85130	Acetyl-CoA carboxylase, central domain (1);	0.054728	0.85682	D	0.000000	T	0.82019	0.4946	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.99;0.955;0.98;0.966	D	0.85734	0.1333	10	0.87932	D	0	-14.1498	19.2254	0.93816	0.0:1.0:0.0:0.0	.	250;1539;1502;1444	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	H	1539;1444;1502;1526;1424;250	ENSP00000344789:R1539H;ENSP00000353898:R1444H;ENSP00000377928:R1502H;ENSP00000335323:R1424H	ENSP00000335323:R1424H	R	-	2	0	ACACA	32619490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.630000	0.89119	0.655000	0.94253	CGC		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
DUSP14	11072	broad.mit.edu	37	17	35872650	35872650	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:35872650C>A	ENST00000487847.1	+	2	1254	c.276C>A	c.(274-276)acC>acA	p.T92T	DUSP14_ENST00000394386.1_Silent_p.T92T|DUSP14_ENST00000394389.4_Silent_p.T92T			O95147	DUS14_HUMAN	dual specificity phosphatase 14	92	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T92T(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ACTTTGACACCGTGGCTGACA	0.557																																					p.T92T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C276A	17						.						98.0	86.0	90.0					17																	35872650		2203	4300	6503	32946763	SO:0001819	synonymous_variant	11072	exon3			AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.276C>A	17.37:g.35872650C>A			32946763	NM_007026		Silent	SNP	ENST00000487847.1	37	CCDS11320.1																																																																																				0.557	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026	
GPR179	440435	broad.mit.edu	37	17	36482820	36482820	+	Missense_Mutation	SNP	G	G	A	rs574735535		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:36482820G>A	ENST00000342292.4	-	11	6652	c.6632C>T	c.(6631-6633)gCa>gTa	p.A2211V	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2211					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A2211V(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGCTGCCTGCTTCCTTGGG	0.572																																					p.A2211V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6632T	17						.						91.0	91.0	91.0					17																	36482820		2066	4212	6278	33736346	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6632C>T	17.37:g.36482820G>A	ENSP00000345060:p.Ala2211Val		33736346	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039158	0.35989	.	.	ENSG00000188888	ENST00000342292	T	0.54866	0.55	3.99	0.806	0.18708	.	0.653996	0.12603	N	0.454502	T	0.34571	0.0902	N	0.25144	0.715	0.26748	N	0.970251	B	0.15473	0.013	B	0.16722	0.016	T	0.24297	-1.0164	10	0.48119	T	0.1	-3.7494	6.1562	0.20338	0.1727:0.0:0.6767:0.1507	.	2211	Q6PRD1	GP179_HUMAN	V	2211	ENSP00000345060:A2211V	ENSP00000345060:A2211V	A	-	2	0	GPR179	33736346	0.065000	0.20965	0.079000	0.20413	0.069000	0.16628	1.525000	0.35953	0.230000	0.21059	0.460000	0.39030	GCA		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
TRPV1	7442	broad.mit.edu	37	17	3480432	3480432	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:3480432C>T	ENST00000571088.1	-	12	1981	c.1768G>A	c.(1768-1770)Ggg>Agg	p.G590R	TRPV1_ENST00000425167.2_Missense_Mutation_p.G601R|TRPV1_ENST00000310522.5_Missense_Mutation_p.G530R|SHPK_ENST00000572705.1_Missense_Mutation_p.G590R|TRPV1_ENST00000576351.1_Missense_Mutation_p.G580R|TRPV1_ENST00000174621.6_Missense_Mutation_p.G588R|RP11-235E17.3_ENST00000573568.1_RNA|TRPV1_ENST00000399756.4_Missense_Mutation_p.G590R|TRPV1_ENST00000399759.3_Missense_Mutation_p.G590R	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	590					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.G590R(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)	GTGGAAAACCCGAACAAGAAG	0.572																																					p.G590R	Melanoma(38;962 1762 15789)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1768A	17						.						38.0	37.0	37.0					17																	3480432		2012	4166	6178	3427181	SO:0001583	missense	7442	exon12			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.1768G>A	17.37:g.3480432C>T	ENSP00000461007:p.Gly590Arg		3427181	NM_018727	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811522	0.70797	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	5.14	5.14	0.70334	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.997	D;D;D;P	0.83275	0.95;0.966;0.996;0.816	D	0.99368	1.0919	10	0.87932	D	0	-30.7453	17.9694	0.89108	0.0:1.0:0.0:0.0	.	590;588;530;601	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	R	590;590;588;601;530	ENSP00000382661:G590R;ENSP00000382659:G590R;ENSP00000174621:G588R;ENSP00000409627:G601R;ENSP00000311692:G530R	ENSP00000174621:G588R	G	-	1	0	TRPV1	3427181	1.000000	0.71417	0.999000	0.59377	0.424000	0.31475	7.074000	0.76791	2.560000	0.86352	0.557000	0.71058	GGG		0.572	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	
SRCIN1	80725	broad.mit.edu	37	17	36719074	36719074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:36719074C>T	ENST00000264659.7	-	6	1047	c.823G>A	c.(823-825)Ggg>Agg	p.G275R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G309R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	147					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.G275R(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGGAGGTCCCCGTTGGTGAGA	0.622																																					p.G275R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G823A	17						.						42.0	51.0	48.0					17																	36719074		2113	4233	6346	33972600	SO:0001583	missense	80725	exon6				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.823G>A	17.37:g.36719074C>T	ENSP00000264659:p.Gly275Arg		33972600	NM_025248	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308571	0.95629	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.56275	0.47	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76974	-0.2760	10	0.87932	D	0	-30.0517	17.312	0.87212	0.0:1.0:0.0:0.0	.	129;147;147;275	B4DHC2;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	275;56;129	ENSP00000264659:G275R	ENSP00000264659:G275R	G	-	1	0	SRCIN1	33972600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.972000	0.70448	2.378000	0.81104	0.561000	0.74099	GGG		0.622	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
NEUROD2	4761	broad.mit.edu	37	17	37762592	37762592	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:37762592C>T	ENST00000302584.4	-	2	481	c.261G>A	c.(259-261)gaG>gaA	p.E87E		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	87	Poly-Glu.				associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E87E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			cttcctcctcctcttcctcct	0.672																																					p.E87E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G261A	17						.						28.0	23.0	25.0					17																	37762592		2203	4299	6502	35016118	SO:0001819	synonymous_variant	4761	exon2			U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.261G>A	17.37:g.37762592C>T			35016118	NM_006160	Q8TBI7|Q9UQC6	Silent	SNP	ENST00000302584.4	37	CCDS11338.1																																																																																				0.672	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160	
PGAP3	93210	broad.mit.edu	37	17	37842239	37842239	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:37842239C>T	ENST00000300658.4	-	2	307	c.215G>A	c.(214-216)tGt>tAt	p.C72Y	ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000378011.4_Missense_Mutation_p.C72Y|PGAP3_ENST00000579146.1_Missense_Mutation_p.C72Y|PGAP3_ENST00000429199.2_Missense_Mutation_p.C72Y|ERBB2_ENST00000584601.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	72					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.C72Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GACCCACATACACTCATACTT	0.537																																					p.C72Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215A	17						.						143.0	95.0	112.0					17																	37842239		2203	4300	6503	35095765	SO:0001583	missense	93210	exon2			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.215G>A	17.37:g.37842239C>T	ENSP00000300658:p.Cys72Tyr		35095765	NM_033419	B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630655	0.87660	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	M	0.93328	3.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.996;0.998	D	0.90216	0.4268	9	0.87932	D	0	-13.9615	17.5327	0.87819	0.0:1.0:0.0:0.0	.	72;16;72;72	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	Y	72;72;16;72	.	ENSP00000300658:C72Y	C	-	2	0	PGAP3	35095765	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.759000	0.74934	2.440000	0.82611	0.561000	0.74099	TGT		0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419	
ITGAE	3682	broad.mit.edu	37	17	3657205	3657205	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:3657205C>T	ENST00000263087.4	-	13	1497	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	467					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.V467M(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTGTGCAGCACGGCCACAGCG	0.637																																					p.V467M	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1399A	17						.						64.0	51.0	55.0					17																	3657205		2203	4300	6503	3603954	SO:0001583	missense	3682	exon13			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1399G>A	17.37:g.3657205C>T	ENSP00000263087:p.Val467Met		3603954	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697879	0.30142	.	.	ENSG00000083457	ENST00000263087	T	0.09445	2.98	4.56	3.58	0.41010	.	.	.	.	.	T	0.18299	0.0439	M	0.81112	2.525	0.09310	N	1	D	0.56035	0.974	B	0.43478	0.421	T	0.13124	-1.0521	9	0.66056	D	0.02	.	11.0859	0.48086	0.0:0.7957:0.2043:0.0	.	467	P38570	ITAE_HUMAN	M	467	ENSP00000263087:V467M	ENSP00000263087:V467M	V	-	1	0	ITGAE	3603954	0.144000	0.22641	0.630000	0.29268	0.225000	0.24961	1.702000	0.37836	1.212000	0.43366	0.462000	0.41574	GTG		0.637	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
PSMD3	5709	broad.mit.edu	37	17	38151682	38151682	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:38151682C>T	ENST00000264639.4	+	9	1396	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PSMD3_ENST00000541736.1_Missense_Mutation_p.R270C	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	408	PCI.				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)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.R408C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCCAGGTGTACGCATGATCAG	0.567																																					p.R408C	Ovarian(186;531 2051 6385 19668 48409)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1222T	17						.						106.0	100.0	102.0					17																	38151682		2203	4300	6503	35405208	SO:0001583	missense	5709	exon9			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1222C>T	17.37:g.38151682C>T	ENSP00000264639:p.Arg408Cys		35405208	NM_002809	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386855	0.82902	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.33654	1.4;1.4	4.74	3.77	0.43336	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.158302	0.53938	D	0.000041	T	0.67411	0.2890	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75850	-0.3172	10	0.87932	D	0	-14.4632	12.1274	0.53924	0.0:0.9153:0.0:0.0847	.	408	O43242	PSMD3_HUMAN	C	408;395;270	ENSP00000264639:R408C;ENSP00000442508:R270C	ENSP00000264639:R408C	R	+	1	0	PSMD3	35405208	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.690000	0.68241	1.204000	0.43247	0.655000	0.94253	CGC		0.567	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809	
KRT28	162605	broad.mit.edu	37	17	38954595	38954595	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:38954595G>A	ENST00000306658.7	-	3	647	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_181535.3	NP_853513.2			keratin 28									p.N194N(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GCCGTAATCCGTTGATGTCGG	0.498																																					p.N194N	Melanoma(19;789 869 15380 26882 39836)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C582T	17						.						103.0	108.0	106.0					17																	38954595		2203	4300	6503	36208121	SO:0001819	synonymous_variant	162605	exon3			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.582C>T	17.37:g.38954595G>A			36208121	NM_181535		Silent	SNP	ENST00000306658.7	37	CCDS11376.1																																																																																				0.498	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535	
KRT23	25984	broad.mit.edu	37	17	39092583	39092583	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:39092583G>A	ENST00000209718.3	-	2	697	c.273C>T	c.(271-273)cgC>cgT	p.R91R	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	91	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R91R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CCTCCAGGGCGCGAACCTTCT	0.552																																					p.R91R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	17						.						97.0	99.0	98.0					17																	39092583		2203	4300	6503	36346109	SO:0001819	synonymous_variant	25984	exon2			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.273C>T	17.37:g.39092583G>A			36346109	NM_015515	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	CCDS11380.1																																																																																				0.552	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1		
ATP6V0A1	535	broad.mit.edu	37	17	40646371	40646371	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:40646371G>A	ENST00000343619.4	+	12	1317	c.1194G>A	c.(1192-1194)acG>acA	p.T398T	ATP6V0A1_ENST00000585525.1_Silent_p.T355T|MIR548AT_ENST00000578714.1_RNA|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000537728.1_Silent_p.T355T|ATP6V0A1_ENST00000546249.1_Silent_p.T398T|ATP6V0A1_ENST00000393829.2_Silent_p.T398T|ATP6V0A1_ENST00000544137.1_Silent_p.T44T|ATP6V0A1_ENST00000264649.6_Silent_p.T405T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	398					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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.T398T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTATTATCACGTTCCCTTTTC	0.373																																					p.T398T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1194A	17						.						156.0	141.0	146.0					17																	40646371		2203	4300	6503	37899897	SO:0001819	synonymous_variant	535	exon12			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1194G>A	17.37:g.40646371G>A			37899897	NM_001130021	B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	CCDS45684.1																																																																																				0.373	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	
FAM134C	162427	broad.mit.edu	37	17	40761170	40761170	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:40761170G>A	ENST00000309428.5	-	1	232	c.173C>T	c.(172-174)gCa>gTa	p.A58V	TUBG1_ENST00000251413.3_5'Flank|FAM134C_ENST00000543197.1_5'UTR|FAM134C_ENST00000585894.1_Intron	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	58						integral component of membrane (GO:0016021)		p.A58V(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CACCAGGGCTGCCTGCACCCG	0.682																																					p.A58V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C173T	17						.						14.0	17.0	16.0					17																	40761170		2173	4255	6428	38014696	SO:0001583	missense	162427	exon1			BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.173C>T	17.37:g.40761170G>A	ENSP00000309432:p.Ala58Val		38014696	NM_178126	B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701544	0.96812	.	.	ENSG00000141699	ENST00000309428	T	0.47177	0.85	5.7	5.7	0.88788	.	0.101983	0.64402	D	0.000002	T	0.63616	0.2526	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.57940	-0.7724	10	0.36615	T	0.2	-18.9571	19.8377	0.96663	0.0:0.0:1.0:0.0	.	58	Q86VR2	F134C_HUMAN	V	58	ENSP00000309432:A58V	ENSP00000309432:A58V	A	-	2	0	FAM134C	38014696	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.711000	0.92665	0.561000	0.74099	GCA		0.682	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126	
ANKFY1	51479	broad.mit.edu	37	17	4088178	4088178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:4088178G>A	ENST00000341657.4	-	12	1669	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	ANKFY1_ENST00000570535.1_Missense_Mutation_p.T587M|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T545M|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron|Y_RNA_ENST00000516003.1_RNA	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	545					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.T545M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGCAGTGGCGTCTGCAGATG	0.567																																					p.T545M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1634T	17						.						90.0	97.0	95.0					17																	4088178		2172	4264	6436	4034927	SO:0001583	missense	51479	exon12			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1634C>T	17.37:g.4088178G>A	ENSP00000343362:p.Thr545Met		4034927	NM_016376	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.991840	0.74703	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.64260	-0.09	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.103397	0.64402	D	0.000003	D	0.83894	0.5353	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;P;D;D	0.65874	0.917;0.87;0.939;0.939	D	0.87298	0.2303	10	0.87932	D	0	-16.0984	18.9587	0.92670	0.0:0.0:1.0:0.0	.	486;545;545;587	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	M	545;486	ENSP00000343362:T545M	ENSP00000343362:T545M	T	-	2	0	ANKFY1	4034927	1.000000	0.71417	0.966000	0.40874	0.498000	0.33706	5.851000	0.69481	2.728000	0.93425	0.655000	0.94253	ACG		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	
SLC4A1	6521	broad.mit.edu	37	17	42335953	42335953	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:42335953C>A	ENST00000262418.6	-	10	1070	c.915G>T	c.(913-915)ggG>ggT	p.G305G	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)	305	Dimerization arm.				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.G305G(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)		GCAGCAGCTCCCCTCGGCTCT	0.652																																					p.G305G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G915T	17						.						32.0	33.0	33.0					17																	42335953		2200	4299	6499	39691479	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.915G>T	17.37:g.42335953C>A			39691479	NM_000342	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																				0.652	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
KIF1C	10749	broad.mit.edu	37	17	4923939	4923939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:4923939C>T	ENST00000320785.5	+	20	2260	c.1903C>T	c.(1903-1905)Caa>Taa	p.Q635*	KIF1C_ENST00000573815.1_3'UTR|AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	635					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.Q635*(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCTGGAGCAGCAAGGCATCGA	0.652																																					p.Q635X	Melanoma(96;1023 1447 10250 19259 33730)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1903T	17						.						52.0	50.0	51.0					17																	4923939		2203	4300	6503	4864663	SO:0001587	stop_gained	10749	exon20			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1903C>T	17.37:g.4923939C>T	ENSP00000320821:p.Gln635*		4864663	NM_006612	D3DTL6|O75186|Q5U618	Nonsense_Mutation	SNP	ENST00000320785.5	37	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	43	10.266793	0.99371	.	.	ENSG00000129250	ENST00000320785	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.2982	0.87174	0.0:1.0:0.0:0.0	.	.	.	.	X	635	.	ENSP00000320821:Q635X	Q	+	1	0	KIF1C	4864663	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.727000	0.84838	2.683000	0.91414	0.655000	0.94253	CAA		0.652	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1		
ITGA3	3675	broad.mit.edu	37	17	48156200	48156200	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:48156200G>A	ENST00000320031.8	+	19	2640	c.2310G>A	c.(2308-2310)cgG>cgA	p.R770R	ITGA3_ENST00000007722.7_Silent_p.R770R	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	770					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.R770R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TAAATCACCGGCTACAAAGCT	0.552																																					p.R770R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2310A	17						.						98.0	103.0	101.0					17																	48156200		2203	4300	6503	45511199	SO:0001819	synonymous_variant	3675	exon19			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2310G>A	17.37:g.48156200G>A			45511199	NM_002204	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	9.846	1.192264	0.21954	.	.	ENSG00000005884	ENST00000506827	.	.	.	4.77	1.33	0.21861	.	.	.	.	.	T	0.51244	0.1663	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41466	-0.9507	4	.	.	.	.	4.9048	0.13793	0.087:0.146:0.6172:0.1498	.	.	.	.	T	149	.	.	A	+	1	0	ITGA3	45511199	0.012000	0.17670	1.000000	0.80357	0.984000	0.73092	-0.095000	0.11077	0.690000	0.31570	0.491000	0.48974	GCT		0.552	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
MPO	4353	broad.mit.edu	37	17	56349189	56349189	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:56349189C>T	ENST00000225275.3	-	11	2033	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	MPO_ENST00000340482.3_Silent_p.T651T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	619					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T619T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TCCTCAGCACCGTGCCCAGCT	0.612																																					p.T619T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1857A	17						.						116.0	85.0	96.0					17																	56349189		2203	4300	6503	53704188	SO:0001819	synonymous_variant	4353	exon11				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1857G>A	17.37:g.56349189C>T			53704188	NM_000250	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	CCDS11604.1																																																																																				0.612	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
BZRAP1	9256	broad.mit.edu	37	17	56397481	56397481	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:56397481C>T	ENST00000343736.4	-	12	1646	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	BZRAP1_ENST00000355701.3_Missense_Mutation_p.D495N|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D435N			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	495						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.D495N(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCATGGAATCCAAGGTAGAC	0.592																																					p.D495N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1483A	17						.						112.0	96.0	101.0					17																	56397481		2203	4300	6503	53752480	SO:0001583	missense	9256	exon12			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1483G>A	17.37:g.56397481C>T	ENSP00000345824:p.Asp495Asn		53752480	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580511	0.86645	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04156	3.69;3.69;3.69	4.99	4.99	0.66335	.	0.127118	0.51477	D	0.000095	T	0.13200	0.0320	L	0.43152	1.355	0.33548	D	0.595797	D;P;P	0.69078	0.997;0.825;0.922	P;P;P	0.61397	0.888;0.451;0.632	T	0.02893	-1.1097	10	0.52906	T	0.07	.	15.3512	0.74389	0.0:1.0:0.0:0.0	.	495;435;495	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	N	495;495;435	ENSP00000347929:D495N;ENSP00000345824:D495N;ENSP00000268893:D435N	ENSP00000268893:D435N	D	-	1	0	BZRAP1	53752480	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.453000	0.60061	2.455000	0.83008	0.561000	0.74099	GAT		0.592	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
VPS53	55275	broad.mit.edu	37	17	600715	600715	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:600715A>G	ENST00000571805.1	-	4	364	c.228T>C	c.(226-228)gaT>gaC	p.D76D	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.D76D|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000437048.2_Silent_p.D76D|VPS53_ENST00000401468.3_Silent_p.D76D			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	76					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.D76D(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GAATATTGTCATCCAGTCTCC	0.378																																					p.D76D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T228C	17						.						196.0	155.0	169.0					17																	600715		2203	4300	6503	547465	SO:0001819	synonymous_variant	55275	exon4				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.228T>C	17.37:g.600715A>G			547465	NM_001128159	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37																																																																																					0.378	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	
RNF43	54894	broad.mit.edu	37	17	56492796	56492796	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:56492796A>G	ENST00000584437.1	-	1	2098	c.143T>C	c.(142-144)aTc>aCc	p.I48T	RNF43_ENST00000581868.1_Intron|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000583753.1_Missense_Mutation_p.I48T|RNF43_ENST00000577716.1_Missense_Mutation_p.I48T|RNF43_ENST00000500597.2_Missense_Mutation_p.I48T|RNF43_ENST00000407977.2_Missense_Mutation_p.I48T|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	48					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I48T(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATCACTCTGATAATAGCTTT	0.498																																					p.I48T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T143C	17						.						100.0	93.0	95.0					17																	56492796		2203	4300	6503	53847795	SO:0001583	missense	54894	exon2				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.143T>C	17.37:g.56492796A>G	ENSP00000463069:p.Ile48Thr		53847795	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.800571	0.70567	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.15718	2.83;2.4	5.49	5.49	0.81192	.	0.319384	0.27437	N	0.019365	T	0.28101	0.0693	N	0.19112	0.55	0.50813	D	0.999895	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.06752	-1.0809	10	0.59425	D	0.04	-15.982	15.0675	0.72008	1.0:0.0:0.0:0.0	.	48;48	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	T	48	ENSP00000385328:I48T;ENSP00000441969:I48T	ENSP00000385328:I48T	I	-	2	0	RNF43	53847795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.322000	0.90000	2.208000	0.71279	0.533000	0.62120	ATC		0.498	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
MED13	9969	broad.mit.edu	37	17	60042562	60042562	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:60042562A>G	ENST00000397786.2	-	20	4725	c.4649T>C	c.(4648-4650)gTa>gCa	p.V1550A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1550	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.V1550A(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTGATGATACTCCACTATT	0.418																																					p.V1550A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4649C	17						.						152.0	145.0	148.0					17																	60042562		2010	4177	6187	57397344	SO:0001583	missense	9969	exon20			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4649T>C	17.37:g.60042562A>G	ENSP00000380888:p.Val1550Ala		57397344	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	7.398	0.632145	0.14322	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73897	-0.79	5.86	3.63	0.41609	.	0.930568	0.09204	N	0.834238	T	0.51736	0.1692	N	0.08118	0	0.28528	N	0.912732	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	10	0.06099	T	0.92	-19.6286	10.3199	0.43760	0.8675:0.0:0.1325:0.0	.	1550	Q9UHV7	MED13_HUMAN	A	1550;1549	ENSP00000380888:V1550A	ENSP00000262436:V1549A	V	-	2	0	MED13	57397344	0.966000	0.33281	0.997000	0.53966	0.995000	0.86356	4.374000	0.59543	0.461000	0.27071	0.533000	0.62120	GTA		0.418	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MARCH10	162333	broad.mit.edu	37	17	60865855	60865855	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:60865855A>C	ENST00000311269.5	-	3	470	c.196T>G	c.(196-198)Tca>Gca	p.S66A	MARCH10_ENST00000456609.2_Missense_Mutation_p.S66A|MARCH10_ENST00000583600.1_Missense_Mutation_p.S66A|MARCH10_ENST00000544856.2_Missense_Mutation_p.S66A	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	66					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S66A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGGAAGATGACCTGCTAGAA	0.483																																					p.S66A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T196G	17						.						98.0	85.0	90.0					17																	60865855		2203	4300	6503	58219587	SO:0001583	missense	162333	exon3			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.196T>G	17.37:g.60865855A>C	ENSP00000311496:p.Ser66Ala		58219587	NM_001100875	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	A	8.809	0.934796	0.18206	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.21031	2.03;2.03;2.03	5.28	1.69	0.24217	.	0.249386	0.21184	N	0.078761	T	0.18718	0.0449	M	0.71581	2.175	0.20926	N	0.999821	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.16722	0.007;0.016;0.007	T	0.27706	-1.0066	10	0.44086	T	0.13	-6.302	1.4944	0.02463	0.542:0.185:0.0954:0.1776	.	66;66;66	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	A	66	ENSP00000416177:S66A;ENSP00000311496:S66A;ENSP00000443746:S66A	ENSP00000311496:S66A	S	-	1	0	MARCH10	58219587	0.563000	0.26594	0.687000	0.30102	0.534000	0.34807	1.086000	0.30853	0.270000	0.21984	0.459000	0.35465	TCA		0.483	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
TANC2	26115	broad.mit.edu	37	17	61482553	61482553	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:61482553G>T	ENST00000424789.2	+	18	3184	c.3180G>T	c.(3178-3180)gtG>gtT	p.V1060V	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.V1060V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1060					in utero embryonic development (GO:0001701)			p.V1060V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGGCGGCAGTGGCCCAGCCAA	0.607																																					p.V1060V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3180T	17						.						22.0	25.0	24.0					17																	61482553		1993	4147	6140	58836285	SO:0001819	synonymous_variant	26115	exon18			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3180G>T	17.37:g.61482553G>T			58836285	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.607	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
CACNG5	27091	broad.mit.edu	37	17	64881072	64881072	+	Intron	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:64881072C>T	ENST00000533854.1	+	6	807				CACNG5_ENST00000169565.3_Silent_p.S288S|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.S288S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAGCAGCGAGCCCATCCTCTG	0.627																																					p.S288S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	17						.						79.0	74.0	76.0					17																	64881072		2203	4300	6503	62311534	SO:0001627	intron_variant	27091	exon4			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.571-28C>T	17.37:g.64881072C>T			62311534	NM_014404	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	CCDS11665.1																																																																																				0.627	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811	
CACNG4	27092	broad.mit.edu	37	17	65027110	65027110	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:65027110C>T	ENST00000262138.3	+	4	976	c.974C>T	c.(973-975)aCc>aTc	p.T325I	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	325					membrane depolarization (GO:0051899)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.T325I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACGGACGACCCCTGTGTGA	0.582																																					p.T325I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C974T	17						.						46.0	46.0	46.0					17																	65027110		2203	4300	6503	62457572	SO:0001583	missense	27092	exon4			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.974C>T	17.37:g.65027110C>T	ENSP00000262138:p.Thr325Ile		62457572	NM_014405	B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552038	0.86127	.	.	ENSG00000075461	ENST00000262138	T	0.64438	-0.1	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.83082	-0.0137	10	0.87932	D	0	-5.4416	18.7326	0.91741	0.0:1.0:0.0:0.0	.	325	Q9UBN1	CCG4_HUMAN	I	325	ENSP00000262138:T325I	ENSP00000262138:T325I	T	+	2	0	CACNG4	62457572	1.000000	0.71417	0.988000	0.46212	0.847000	0.48162	7.236000	0.78154	2.431000	0.82371	0.655000	0.94253	ACC		0.582	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405	
ASGR2	433	broad.mit.edu	37	17	7005010	7005010	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:7005010C>T	ENST00000380952.2	-	9	1084	c.820G>A	c.(820-822)Gga>Aga	p.G274R	ASGR2_ENST00000254850.7_Missense_Mutation_p.G250R|ASGR2_ENST00000355035.5_Missense_Mutation_p.G274R|ASGR2_ENST00000446679.2_Missense_Mutation_p.G255R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	274	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.G274R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TCTTCACTTCCACCCAGCTCG	0.572																																					p.G274R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G820A	17						.						84.0	72.0	76.0					17																	7005010		2203	4300	6503	6945734	SO:0001583	missense	433	exon9			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.820G>A	17.37:g.7005010C>T	ENSP00000370339:p.Gly274Arg		6945734	NM_001181	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.970983	0.53614	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.78	3.77	0.43336	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.804588	0.10383	N	0.681279	T	0.47893	0.1470	M	0.80616	2.505	0.09310	N	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.917;0.996;0.993;0.988;0.996	T	0.22208	-1.0223	10	0.62326	D	0.03	.	10.0025	0.41938	0.2014:0.7986:0.0:0.0	.	250;274;269;255;274	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	R	274;250;274;255	ENSP00000347140:G274R;ENSP00000254850:G250R;ENSP00000370339:G274R;ENSP00000405844:G255R	ENSP00000254850:G250R	G	-	1	0	ASGR2	6945734	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.665000	0.25083	1.186000	0.42985	0.644000	0.83932	GGA		0.572	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914	
ABCA8	10351	broad.mit.edu	37	17	66913554	66913554	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:66913554C>T	ENST00000269080.2	-	15	2103	c.1966G>A	c.(1966-1968)Gcg>Acg	p.A656T	ABCA8_ENST00000430352.2_Missense_Mutation_p.A696T|ABCA8_ENST00000586539.1_Missense_Mutation_p.A696T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	656	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.A656T(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)					GAAGAGCCCGCGCACTTTAGC	0.408																																					p.A656T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1966A	17						.						107.0	117.0	113.0					17																	66913554		2203	4300	6503	64425149	SO:0001583	missense	10351	exon15			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.1966G>A	17.37:g.66913554C>T	ENSP00000269080:p.Ala656Thr		64425149	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431150	0.43122	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.62941	-0.01;-0.01	4.91	4.91	0.64330	ABC transporter-like (1);	0.000000	0.52532	D	0.000077	T	0.43523	0.1251	N	0.04655	-0.195	0.45139	D	0.998156	P;B;B;B;P	0.52061	0.95;0.394;0.314;0.163;0.599	B;B;B;B;B	0.42593	0.392;0.147;0.046;0.197;0.22	T	0.54105	-0.8343	10	0.45353	T	0.12	.	17.2483	0.87034	0.0:1.0:0.0:0.0	.	635;696;696;696;656	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	656;696;635	ENSP00000269080:A656T;ENSP00000402814:A696T	ENSP00000269080:A656T	A	-	1	0	ABCA8	64425149	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	3.277000	0.51654	2.554000	0.86153	0.549000	0.68633	GCG		0.408	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
SLC2A4	6517	broad.mit.edu	37	17	7187883	7187883	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:7187883T>C	ENST00000317370.8	+	7	1075	c.807T>C	c.(805-807)cgT>cgC	p.R269R	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Silent_p.R269R|SLC2A4_ENST00000424875.2_Silent_p.R259R	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	269					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.R269R(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGCTGGAGCGTGAGCGGCCAC	0.642																																					p.R269R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T807C	17						.						45.0	49.0	48.0					17																	7187883		2203	4300	6503	7128607	SO:0001819	synonymous_variant	6517	exon7			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.807T>C	17.37:g.7187883T>C			7128607	NM_001042	Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	37	CCDS11097.1																																																																																				0.642	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		
NEURL4	84461	broad.mit.edu	37	17	7226074	7226074	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:7226074G>A	ENST00000399464.2	-	16	2720	c.2705C>T	c.(2704-2706)tCc>tTc	p.S902F	NEURL4_ENST00000570460.1_Missense_Mutation_p.S878F|NEURL4_ENST00000315614.7_Missense_Mutation_p.S900F	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	902						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S902F(1)|p.S900F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGTGGGAAGGACTTCTCGGT	0.622																																					p.S902F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2705T	17						.						154.0	167.0	163.0					17																	7226074		2064	4208	6272	7166798	SO:0001583	missense	84461	exon16				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2705C>T	17.37:g.7226074G>A	ENSP00000382390:p.Ser902Phe		7166798	NM_032442	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018894	0.75275	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.34472	1.36;1.37	5.44	5.44	0.79542	.	0.135523	0.51477	D	0.000093	T	0.54127	0.1839	L	0.44542	1.39	0.43292	D	0.995277	D;D	0.65815	0.994;0.995	P;D	0.72982	0.904;0.979	T	0.53358	-0.8450	10	0.66056	D	0.02	-10.2505	18.397	0.90502	0.0:0.0:1.0:0.0	.	900;902	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	F	900;902	ENSP00000319826:S900F;ENSP00000382390:S902F	ENSP00000319826:S900F	S	-	2	0	NEURL4	7166798	1.000000	0.71417	0.994000	0.49952	0.757000	0.42996	6.292000	0.72725	2.712000	0.92718	0.563000	0.77884	TCC		0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442	
RECQL5	9400	broad.mit.edu	37	17	73663547	73663547	+	5'Flank	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:73663547G>A	ENST00000317905.5	-	0	0				RECQL5_ENST00000584999.1_5'Flank|RECQL5_ENST00000423245.2_5'Flank|SAP30BP_ENST00000584667.1_Missense_Mutation_p.G32D|RECQL5_ENST00000420326.2_5'Flank|RECQL5_ENST00000340830.5_5'Flank|SAP30BP_ENST00000355423.3_Missense_Mutation_p.G32D|SAP30BP_ENST00000579864.1_3'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						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.G32D(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)			GAGGCGGTGGGCAGCGCGGCT	0.597								Other identified genes with known or suspected DNA repair function																													p.G32D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G95A	17						.						50.0	50.0	50.0					17																	73663547		2203	4300	6503	71175142	SO:0001631	upstream_gene_variant	29115	exon1			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			17.37:g.73663547G>A	Exception_encountered		71175142	NM_013260	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857270	0.51376	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.4	5.4	0.78164	.	0.156338	0.56097	D	0.000029	T	0.66829	0.2829	L	0.36672	1.1	0.58432	D	0.999997	D;B;B	0.89917	1.0;0.0;0.0	D;B;B	0.79784	0.993;0.002;0.001	T	0.64622	-0.6364	9	0.37606	T	0.19	-18.1134	15.5406	0.76043	0.0:0.1382:0.8618:0.0	.	32;32;32	F5H478;Q9UHR5-2;Q9UHR5	.;.;S30BP_HUMAN	D	32	.	ENSP00000293208:G32D	G	+	2	0	SAP30BP	71175142	1.000000	0.71417	0.959000	0.39883	0.966000	0.64601	4.329000	0.59260	2.509000	0.84616	0.650000	0.86243	GGC		0.597	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
ABR	29	broad.mit.edu	37	17	975885	975885	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:975885C>T	ENST00000302538.5	-	8	1009	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ABR_ENST00000574437.1_Missense_Mutation_p.R242H|ABR_ENST00000536794.2_Missense_Mutation_p.R70H|ABR_ENST00000291107.2_Missense_Mutation_p.R251H|ABR_ENST00000544583.2_Missense_Mutation_p.R242H	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	288					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R288H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCAGTCCGGCGGGGGTCGAT	0.642																																					p.R288H	Esophageal Squamous(197;2016 2115 4129 29033 46447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863A	17						.						73.0	59.0	63.0					17																	975885		2203	4300	6503	922635	SO:0001583	missense	29	exon8			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.863G>A	17.37:g.975885C>T	ENSP00000303909:p.Arg288His		922635	NM_021962	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827148	0.96996	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000382259	T;T;T;T	0.22539	1.97;1.98;1.95;3.21	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.80764	0.985;0.943;0.994;0.985	T	0.15578	-1.0432	10	0.39692	T	0.17	.	19.0001	0.92830	0.0:1.0:0.0:0.0	.	70;172;251;288	B7Z683;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	H	288;242;251;70;172	ENSP00000303909:R288H;ENSP00000442048:R242H;ENSP00000291107:R251H;ENSP00000437429:R70H	ENSP00000291107:R251H	R	-	2	0	ABR	922635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.712000	0.92718	0.650000	0.86243	CGC		0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
CHD3	1107	broad.mit.edu	37	17	7810227	7810227	+	Missense_Mutation	SNP	C	C	T	rs368103933		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:7810227C>T	ENST00000330494.7	+	30	4694	c.4544C>T	c.(4543-4545)cCg>cTg	p.P1515L	CHD3_ENST00000358181.4_Missense_Mutation_p.P1515L|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000380358.4_Missense_Mutation_p.P1574L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1515					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1515L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGGTCAATGCCGGAACTGATG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17925	0.001		0.0	False		,,,				2504	0.0				p.P1515L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4544T	17						.	C	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	122.0	122.0	122.0		4721,4544,4544	4.5	1.0	17		122	0,8600		0,0,4300	no	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1574/2060,1515/2001,1515/1967	7810227	1,13005	2203	4300	6503	7750952	SO:0001583	missense	1107	exon30			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4544C>T	17.37:g.7810227C>T	ENSP00000332628:p.Pro1515Leu		7750952	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274498	0.59649	2.27E-4	0.0	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.94537	-3.45;-3.37;-3.36	4.52	4.52	0.55395	Domain of unknown function DUF1086 (1);	0.000000	0.45867	D	0.000325	D	0.97192	0.9082	M	0.80847	2.515	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;0.998;0.999;0.999	D	0.97862	1.0281	10	0.87932	D	0	-12.9622	17.3957	0.87444	0.0:1.0:0.0:0.0	.	91;1515;1515;1574	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	L	1574;1515;1515	ENSP00000369716:P1574L;ENSP00000350907:P1515L;ENSP00000332628:P1515L	ENSP00000332628:P1515L	P	+	2	0	CHD3	7750952	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	5.548000	0.67255	2.493000	0.84123	0.462000	0.41574	CCG		0.592	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
CTC1	80169	broad.mit.edu	37	17	8139185	8139185	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:8139185G>A	ENST00000315684.8	-	7	1177	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	390					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.G390G(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCCGCCTAAGGCCACGGAACT	0.567																																					p.G390G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1170T	17						.						50.0	53.0	52.0					17																	8139185		2049	4200	6249	8079910	SO:0001819	synonymous_variant	80169	exon7			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1170C>T	17.37:g.8139185G>A			8079910	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																				0.567	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	
WDR16	146845	broad.mit.edu	37	17	9538836	9538836	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:9538836G>A	ENST00000352665.5	+	11	1504	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	WDR16_ENST00000299764.5_Missense_Mutation_p.A489T|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.A411T	NM_145054.4	NP_659491.4			WD repeat domain 16									p.A479T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGTGTCACCGCCAGCACCGA	0.512																																					p.A479T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1435A	17						.						155.0	119.0	131.0					17																	9538836		2203	4300	6503	9479561	SO:0001583	missense	146845	exon11			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1435G>A	17.37:g.9538836G>A	ENSP00000339449:p.Ala479Thr		9479561	NM_145054		Missense_Mutation	SNP	ENST00000352665.5	37	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	33	5.287069	0.95517	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.64618	-0.11;-0.11;-0.11	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.982	D	0.86726	0.1945	10	0.72032	D	0.01	-23.9909	17.2628	0.87075	0.0:0.0:1.0:0.0	.	489;411;479	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	T	479;411;489	ENSP00000339449:A479T;ENSP00000379521:A411T;ENSP00000299764:A489T	ENSP00000299764:A489T	A	+	1	0	WDR16	9479561	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	9.169000	0.94788	2.351000	0.79841	0.655000	0.94253	GCC		0.512	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054	
USP43	124739	broad.mit.edu	37	17	9604818	9604818	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:9604818G>A	ENST00000285199.7	+	12	1908	c.1812G>A	c.(1810-1812)acG>acA	p.T604T	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.T604T	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	604	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.T605T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCTCTCCACGCTGGTGAAGT	0.587																																					p.T604T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1812A	17						.						33.0	35.0	34.0					17																	9604818		2054	4208	6262	9545543	SO:0001819	synonymous_variant	124739	exon12			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1812G>A	17.37:g.9604818G>A			9545543	NM_153210	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	CCDS45610.1																																																																																				0.587	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210	
APOH	350	broad.mit.edu	37	17	64213027	64213027	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:64213027delT	ENST00000205948.6	-	6	700	c.663delA	c.(661-663)aaafs	p.K221fs		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	221	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.K221fs*26(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AAAGTGTTGGTTTTGCAGGAT	0.368																																					p.K221fs	Melanoma(155;624 1882 16869 48804 51309)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.663delA	17						.						182.0	181.0	182.0					17																	64213027		2203	4300	6503	61643489	SO:0001589	frameshift_variant	350	exon6				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.663delA	17.37:g.64213027delT	ENSP00000205948:p.Lys221fs		61643489	NM_000042	B2R9M3|Q9UCN7	Frame_Shift_Del	DEL	ENST00000205948.6	37	CCDS11663.1																																																																																				0.368	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042	
MFSD11	79157	broad.mit.edu	37	17	74763523	74763523	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr17:74763523T>C	ENST00000588460.1	+	9	2780	c.738T>C	c.(736-738)acT>acC	p.T246T	MFSD11_ENST00000593181.1_Silent_p.T194T|MFSD11_ENST00000586622.1_Silent_p.T246T|MFSD11_ENST00000355954.3_Silent_p.T194T|MFSD11_ENST00000590514.1_Silent_p.T246T|MFSD11_ENST00000336509.4_Silent_p.T246T	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	246						integral component of membrane (GO:0016021)		p.T246T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GTATTACAACTGCTTATACAG	0.308																																					p.T246T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T738C	17						.						108.0	99.0	102.0					17																	74763523		2203	4300	6503	72275118	SO:0001819	synonymous_variant	79157	exon10			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.738T>C	17.37:g.74763523T>C			72275118	NM_024311	O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	CCDS11750.1																																																																																				0.308	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311	
FAM210A	125228	broad.mit.edu	37	18	13682057	13682057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:13682057C>T	ENST00000322247.3	-	3	407	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.R7Q	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	7						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R7Q(1)									AGATACAGTCCGTGGTACATT	0.368																																					p.R7Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G20A	18						.						124.0	109.0	114.0					18																	13682057		2203	4300	6503	13672057	SO:0001583	missense	125228	exon2			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.20G>A	18.37:g.13682057C>T	ENSP00000323635:p.Arg7Gln		13672057	NM_152352	D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	C	8.484	0.860535	0.17178	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.49720	0.77;0.77	5.48	0.604	0.17547	.	0.820831	0.11254	N	0.583365	T	0.41971	0.1182	L	0.57536	1.79	0.09310	N	0.999998	B	0.16166	0.016	B	0.06405	0.002	T	0.35822	-0.9773	10	0.54805	T	0.06	-1.1223	8.7854	0.34818	0.0:0.4579:0.0:0.5421	.	7	Q96ND0	CR019_HUMAN	Q	7	ENSP00000323635:R7Q;ENSP00000386115:R7Q	ENSP00000323635:R7Q	R	-	2	0	C18orf19	13672057	1.000000	0.71417	0.057000	0.19452	0.009000	0.06853	0.393000	0.20817	-0.184000	0.10567	-0.768000	0.03414	CGG		0.368	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352	
NPC1	4864	broad.mit.edu	37	18	21115458	21115458	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:21115458G>A	ENST00000269228.5	-	22	4006	c.3452C>T	c.(3451-3453)gCt>gTt	p.A1151V	NPC1_ENST00000412552.2_Missense_Mutation_p.A833V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1151					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.A1151V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAAGGATACAGCGTTCAGACT	0.512																																					p.A1151V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3452T	18						.						177.0	135.0	149.0					18																	21115458		2203	4300	6503	19369456	SO:0001583	missense	4864	exon22			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3452C>T	18.37:g.21115458G>A	ENSP00000269228:p.Ala1151Val		19369456	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534246	0.85812	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.86956	-2.19;-2.19	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95359	0.8454	10	0.87932	D	0	-25.7963	20.063	0.97692	0.0:0.0:1.0:0.0	.	1162;1151	Q59GR1;O15118	.;NPC1_HUMAN	V	1151;833	ENSP00000269228:A1151V;ENSP00000408606:A833V	ENSP00000269228:A1151V	A	-	2	0	NPC1	19369456	1.000000	0.71417	0.168000	0.22838	0.411000	0.31082	9.863000	0.99569	2.735000	0.93741	0.655000	0.94253	GCT		0.512	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
OSBPL1A	114876	broad.mit.edu	37	18	21912975	21912975	+	Missense_Mutation	SNP	G	G	A	rs201206540		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:21912975G>A	ENST00000319481.3	-	7	762	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	186	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.R186W(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTATGGGCCCGGTAAGCTGCA	0.423																																					p.R186W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C556T	18						.	G	TRP/ARG	0,4406		0,0,2203	126.0	114.0	118.0		556	4.8	1.0	18		118	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OSBPL1A	NM_080597.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	186/951	21912975	1,13005	2203	4300	6503	20166973	SO:0001583	missense	114876	exon7			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.556C>T	18.37:g.21912975G>A	ENSP00000320291:p.Arg186Trp		20166973	NM_080597	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980097	0.74474	0.0	1.16E-4	ENSG00000141447	ENST00000319481	D	0.83506	-1.73	4.84	4.84	0.62591	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89052	0.3456	10	0.87932	D	0	-17.3894	18.2723	0.90072	0.0:0.0:1.0:0.0	.	186	Q9BXW6	OSBL1_HUMAN	W	186	ENSP00000320291:R186W	ENSP00000320291:R186W	R	-	1	2	OSBPL1A	20166973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.459000	0.53021	2.379000	0.81126	0.650000	0.86243	CGG		0.423	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	
AQP4	361	broad.mit.edu	37	18	24436335	24436335	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:24436335T>C	ENST00000383168.4	-	5	940	c.812A>G	c.(811-813)cAg>cGg	p.Q271R	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.Q249R|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.Q249R	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	271					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.Q271R(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)					TTTTGTTTGCTGGGCAGCTTT	0.468																																					p.Q271R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A812G	18						.						245.0	215.0	225.0					18																	24436335		2203	4300	6503	22690333	SO:0001583	missense	361	exon5			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.812A>G	18.37:g.24436335T>C	ENSP00000372654:p.Gln271Arg		22690333	NM_001650	P78564	Missense_Mutation	SNP	ENST00000383168.4	37	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668727	0.47677	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.86097	-2.07	5.75	5.75	0.90469	.	0.000000	0.32952	N	0.005444	T	0.78259	0.4255	L	0.27053	0.805	0.46416	D	0.999039	B	0.16802	0.019	B	0.17098	0.017	T	0.72620	-0.4238	10	0.32370	T	0.25	.	16.0475	0.80731	0.0:0.0:0.0:1.0	.	271	P55087	AQP4_HUMAN	R	271;251;167	ENSP00000372654:Q271R	ENSP00000372654:Q271R	Q	-	2	0	AQP4	22690333	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	2.725000	0.47294	2.193000	0.70182	0.528000	0.53228	CAG		0.468	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028	
CDH2	1000	broad.mit.edu	37	18	25565698	25565698	+	Missense_Mutation	SNP	G	G	A	rs201191002		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:25565698G>A	ENST00000269141.3	-	12	2192	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M	CDH2_ENST00000399380.3_Missense_Mutation_p.T559M	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	590	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.T590M(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCTGCAGCGTTCCTGTTCC	0.398																																					p.T590M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1769T	18						.						68.0	72.0	71.0					18																	25565698		2203	4300	6503	23819696	SO:0001583	missense	1000	exon12			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1769C>T	18.37:g.25565698G>A	ENSP00000269141:p.Thr590Met		23819696	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583910	0.65992	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.55588	0.51;0.51	5.96	5.96	0.96718	Cadherin (5);Cadherin-like (1);	0.094256	0.64402	D	0.000001	T	0.78304	0.4262	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.983	T	0.80569	-0.1324	10	0.87932	D	0	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	559;590	A8MWK3;P19022	.;CADH2_HUMAN	M	590;559	ENSP00000269141:T590M;ENSP00000382312:T559M	ENSP00000269141:T590M	T	-	2	0	CDH2	23819696	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	7.638000	0.83328	2.830000	0.97506	0.585000	0.79938	ACG		0.398	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
GAREM	64762	broad.mit.edu	37	18	29867873	29867873	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:29867873C>T	ENST00000269209.6	-	4	690	c.687G>A	c.(685-687)atG>atA	p.M229I	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.M229I|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	229	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.M229I(1)									CGCCCTCTTGCATCTGAAGTT	0.527																																					p.M229I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G687A	18						.						147.0	123.0	131.0					18																	29867873		2203	4300	6503	28121871	SO:0001583	missense	64762	exon4			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.687G>A	18.37:g.29867873C>T	ENSP00000269209:p.Met229Ile		28121871	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856246	0.91355	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15952	2.38;2.38	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	M	0.73962	2.25	0.80722	D	1	D;P	0.59357	0.985;0.941	D;P	0.72338	0.977;0.676	T	0.32561	-0.9902	10	0.72032	D	0.01	-35.0516	20.1095	0.97908	0.0:1.0:0.0:0.0	.	229;229	Q9H706;Q9H706-3	FA59A_HUMAN;.	I	229	ENSP00000382165:M229I;ENSP00000269209:M229I	ENSP00000269209:M229I	M	-	3	0	FAM59A	28121871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.831000	0.97527	0.655000	0.94253	ATG		0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
COLEC12	81035	broad.mit.edu	37	18	346456	346456	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:346456A>G	ENST00000400256.3	-	5	1373	c.1166T>C	c.(1165-1167)cTg>cCg	p.L389P		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	389					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.L389P(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GATGTTGGCCAGGGTATTATT	0.453																																					p.L389P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1166C	18						.						194.0	164.0	174.0					18																	346456		2203	4300	6503	336456	SO:0001583	missense	81035	exon5			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1166T>C	18.37:g.346456A>G	ENSP00000383115:p.Leu389Pro		336456	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862963	0.32884	.	.	ENSG00000158270	ENST00000400256	D	0.97831	-4.56	5.76	5.76	0.90799	.	0.131393	0.52532	D	0.000072	D	0.96858	0.8974	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	D	0.96614	0.9454	10	0.32370	T	0.25	-10.8537	16.0637	0.80856	1.0:0.0:0.0:0.0	.	389	Q5KU26	COL12_HUMAN	P	389	ENSP00000383115:L389P	ENSP00000383115:L389P	L	-	2	0	COLEC12	336456	1.000000	0.71417	0.846000	0.33378	0.419000	0.31324	8.904000	0.92590	2.197000	0.70478	0.533000	0.62120	CTG		0.453	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
ZSCAN30	100101467	broad.mit.edu	37	18	32844146	32844146	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:32844146A>G	ENST00000420878.3	-	3	626	c.171T>C	c.(169-171)tcT>tcC	p.S57S	ZSCAN30_ENST00000333206.5_Silent_p.S57S|ZSCAN30_ENST00000592278.1_Silent_p.S57S|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000589178.1_Silent_p.S57S|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000383091.2_Silent_p.S57S	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	57	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.S57S(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						CAGTGGAGTCAGAGTAACTAA	0.547																																					p.S57S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T171C	18						.						54.0	57.0	56.0					18																	32844146		1568	3582	5150	31098144	SO:0001819	synonymous_variant	100101467	exon2			AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.171T>C	18.37:g.32844146A>G			31098144	NM_001112734	B4E0N0|Q6ZNB3|Q96PN3	Silent	SNP	ENST00000420878.3	37	CCDS42427.1																																																																																				0.547	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734	
ST8SIA5	29906	broad.mit.edu	37	18	44260433	44260433	+	Missense_Mutation	SNP	C	C	T	rs371266233		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:44260433C>T	ENST00000315087.7	-	7	1363	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.V271M|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.V204M	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	235					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.V235M(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ACCTGCAGCACGCGATAGAAC	0.632																																					p.V235M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	18						.	C	MET/VAL	0,4404		0,0,2202	44.0	25.0	32.0		703	5.3	1.0	18		32	1,8593		0,1,4296	no	missense	ST8SIA5	NM_013305.4	21	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	235/377	44260433	1,12997	2202	4297	6499	42514431	SO:0001583	missense	29906	exon7			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.703G>A	18.37:g.44260433C>T	ENSP00000321343:p.Val235Met		42514431	NM_013305	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807614	0.70797	0.0	1.16E-4	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.30714	1.52;1.52;1.52	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	L	0.49640	1.575	0.80722	D	1	D;P;D	0.89917	0.999;0.839;1.0	P;P;D	0.69824	0.884;0.5;0.966	T	0.35025	-0.9805	10	0.33940	T	0.23	-0.8357	19.0155	0.92892	0.0:1.0:0.0:0.0	.	204;271;235	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	M	235;271;204	ENSP00000321343:V235M;ENSP00000445492:V271M;ENSP00000443683:V204M	ENSP00000321343:V235M	V	-	1	0	ST8SIA5	42514431	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.006000	0.70724	2.482000	0.83794	0.561000	0.74099	GTG		0.632	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
KATNAL2	83473	broad.mit.edu	37	18	44627320	44627320	+	Missense_Mutation	SNP	G	G	A	rs374246841		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:44627320G>A	ENST00000245121.5	+	15	1539	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	KATNAL2_ENST00000356157.7_Missense_Mutation_p.A521T	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.A449T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CAAGCCCTCCGCAAAGAATCT	0.483											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A449T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1345A	18						.	G	THR/ALA	0,4406		0,0,2203	73.0	65.0	68.0		1345	4.6	1.0	18		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	KATNAL2	NM_031303.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	449/467	44627320	1,13005	2203	4300	6503	42881318	SO:0001583	missense	83473	exon15			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.1345G>A	18.37:g.44627320G>A	ENSP00000245121:p.Ala449Thr	925	42881318	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355708	0.61293	0.0	1.16E-4	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.97994	-4.65;-4.65	5.51	4.64	0.57946	.	0.190773	0.43747	D	0.000530	D	0.95532	0.8548	L	0.56199	1.76	0.45427	D	0.998408	P	0.43024	0.798	B	0.36289	0.221	D	0.94876	0.8034	10	0.49607	T	0.09	-5.4408	14.5524	0.68075	0.0703:0.0:0.9297:0.0	.	521	Q8IYT4	KATL2_HUMAN	T	521;449	ENSP00000348478:A521T;ENSP00000245121:A449T	ENSP00000245121:A449T	A	+	1	0	KATNAL2	42881318	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.162000	0.77515	1.466000	0.48025	0.655000	0.94253	GCA		0.483	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
ZBTB7C	201501	broad.mit.edu	37	18	45566725	45566725	+	Missense_Mutation	SNP	C	C	T	rs116118566	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:45566725C>T	ENST00000588982.1	-	3	1255	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.A252T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.A252T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.A252T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.A252T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	252							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A252T(1)|p.A252S(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGTCCGGGGCGAATGGAGAC	0.597													C|||	15	0.00299521	0.0106	0.0	5008	,	,		16958	0.0		0.0	False		,,,				2504	0.001				p.A252T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G754A	18						.	C	THR/ALA	42,4364	43.1+/-76.7	0,42,2161	34.0	37.0	36.0		754	-1.5	0.4	18	dbSNP_132	36	0,8600		0,0,4300	yes	missense	ZBTB7C	NM_001039360.2	58	0,42,6461	TT,TC,CC		0.0,0.9532,0.3229	benign	252/620	45566725	42,12964	2203	4300	6503	43820723	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.754G>A	18.37:g.45566725C>T	ENSP00000468782:p.Ala252Thr		43820723	NM_001039360	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	10.88	1.475970	0.26511	0.009532	0.0	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.10668	2.85;2.85	5.25	-1.48	0.08745	.	0.660541	0.15585	N	0.254700	T	0.01800	0.0057	N	0.14661	0.345	0.20403	N	0.99991	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.40175	-0.9577	10	0.17832	T	0.49	.	1.6251	0.02721	0.2061:0.4095:0.1766:0.2078	.	252;252	B2RG49;A1YPR0	.;ZBT7C_HUMAN	T	252	ENSP00000439781:A252T;ENSP00000328732:A252T	ENSP00000328732:A252T	A	-	1	0	ZBTB7C	43820723	0.000000	0.05858	0.378000	0.26068	0.889000	0.51656	-1.061000	0.03472	-0.017000	0.14103	-0.339000	0.08088	GCC		0.597	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360	
MYO5B	4645	broad.mit.edu	37	18	47431168	47431168	+	Silent	SNP	C	C	A	rs372848572		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:47431168C>A	ENST00000285039.7	-	20	2744	c.2445G>T	c.(2443-2445)gcG>gcT	p.A815A	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	815	Arg-rich.|IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.A815A(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCACCACAGCCGCTCTGATCC	0.622																																					p.A815A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2445T	18						.						35.0	40.0	39.0					18																	47431168		2003	4161	6164	45685166	SO:0001819	synonymous_variant	4645	exon20			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2445G>T	18.37:g.47431168C>A			45685166	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.622	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
DCC	1630	broad.mit.edu	37	18	50589730	50589730	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:50589730T>A	ENST00000442544.2	+	6	1657	c.1041T>A	c.(1039-1041)gaT>gaA	p.D347E	DCC_ENST00000581580.1_Missense_Mutation_p.D2E|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.D195E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	347	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.D347E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAAGCATGGATATTGAGTTTG	0.418																																					p.D347E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1041A	18						.						285.0	270.0	275.0					18																	50589730		2203	4300	6503	48843728	SO:0001583	missense	1630	exon6			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1041T>A	18.37:g.50589730T>A	ENSP00000389140:p.Asp347Glu		48843728	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.494908	0.44352	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.66460	-0.21;-0.21	5.95	-0.0325	0.13905	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.31476	0.935	0.32426	N	0.548721	P;P;P	0.50943	0.759;0.94;0.606	B;P;P	0.49999	0.419;0.628;0.603	T	0.65154	-0.6237	10	0.36615	T	0.2	.	12.5267	0.56089	0.0:0.6695:0.0:0.3305	.	195;195;347	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	E	347;280;195	ENSP00000389140:D347E;ENSP00000397322:D195E	ENSP00000304146:D280E	D	+	3	2	DCC	48843728	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	0.429000	0.21412	-0.342000	0.08363	-0.263000	0.10527	GAT		0.418	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
NEDD4L	23327	broad.mit.edu	37	18	56033344	56033344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:56033344G>A	ENST00000400345.3	+	21	2230	c.1947G>A	c.(1945-1947)tgG>tgA	p.W649*	NEDD4L_ENST00000356462.6_Nonsense_Mutation_p.W585*|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Nonsense_Mutation_p.W528*|NEDD4L_ENST00000357895.5_Nonsense_Mutation_p.W641*|NEDD4L_ENST00000586263.1_Nonsense_Mutation_p.W621*|NEDD4L_ENST00000456173.2_Nonsense_Mutation_p.W508*|NEDD4L_ENST00000256830.9_Nonsense_Mutation_p.W545*|NEDD4L_ENST00000435432.2_Nonsense_Mutation_p.W508*|NEDD4L_ENST00000382850.4_Nonsense_Mutation_p.W629*|NEDD4L_ENST00000256832.7_Nonsense_Mutation_p.W509*|NEDD4L_ENST00000456986.1_Nonsense_Mutation_p.W528*	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	649	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.W629*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTAGACTGTGGATTGAGTTTG	0.413																																					p.W629X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1887A	18						.						120.0	114.0	116.0					18																	56033344		1872	4106	5978	54184324	SO:0001587	stop_gained	23327	exon20			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1947G>A	18.37:g.56033344G>A	ENSP00000383199:p.Trp649*		54184324	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Nonsense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	44	11.052606	0.99508	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	.	.	.	X	649;629;585;545;509;528;641;508;508;528	.	ENSP00000256830:W545X	W	+	3	0	NEDD4L	54184324	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	TGG		0.413	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
NEDD4L	23327	broad.mit.edu	37	18	56035073	56035073	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:56035073C>T	ENST00000400345.3	+	22	2442	c.2159C>T	c.(2158-2160)gCc>gTc	p.A720V	NEDD4L_ENST00000356462.6_Missense_Mutation_p.A656V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A599V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A712V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A692V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A579V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A616V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A579V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A700V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A580V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A599V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	720	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.A700V(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCTGGTCTGGCCGTATTTCAT	0.418																																					p.A700V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2099T	18						.						120.0	108.0	112.0					18																	56035073		1891	4100	5991	54186053	SO:0001583	missense	23327	exon21			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2159C>T	18.37:g.56035073C>T	ENSP00000383199:p.Ala720Val		54186053	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454625	0.96223	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.991;0.979;1.0;1.0	D	0.84831	0.0802	10	0.87932	D	0	.	19.5873	0.95495	0.0:1.0:0.0:0.0	.	692;712;579;656;720;700	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	V	720;700;656;616;580;599;712;579;579;599	ENSP00000383199:A720V;ENSP00000372301:A700V;ENSP00000348847:A656V;ENSP00000256830:A616V;ENSP00000256832:A580V;ENSP00000411947:A599V;ENSP00000350569:A712V;ENSP00000393395:A579V;ENSP00000405440:A579V;ENSP00000389406:A599V	ENSP00000256830:A616V	A	+	2	0	NEDD4L	54186053	1.000000	0.71417	0.972000	0.41901	0.912000	0.54170	7.776000	0.85560	2.702000	0.92279	0.650000	0.86243	GCC		0.418	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
ZNF532	55205	broad.mit.edu	37	18	56585741	56585741	+	Silent	SNP	C	C	T	rs376177159		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:56585741C>T	ENST00000336078.4	+	4	998	c.222C>T	c.(220-222)tcC>tcT	p.S74S	ZNF532_ENST00000589288.1_Silent_p.S74S|ZNF532_ENST00000591230.1_Silent_p.S74S|ZNF532_ENST00000591808.1_Silent_p.S74S|ZNF532_ENST00000591083.1_Silent_p.S74S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	74					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.S74S(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						TTGACTCTTCCGAGGGCGGGG	0.507													c|||	1	0.000199681	0.0008	0.0	5008	,	,		23445	0.0		0.0	False		,,,				2504	0.0				p.S74S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	18						.	C		1,4405	2.1+/-5.4	0,1,2202	84.0	71.0	75.0		222	-10.3	0.0	18		75	0,8600		0,0,4300	no	coding-synonymous	ZNF532	NM_018181.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		74/1302	56585741	1,13005	2203	4300	6503	54736721	SO:0001819	synonymous_variant	55205	exon4			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.222C>T	18.37:g.56585741C>T			54736721	NM_018181	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	CCDS11969.1																																																																																				0.507	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181	
HMSD	284293	broad.mit.edu	37	18	61621687	61621687	+	Nonsense_Mutation	SNP	C	C	T	rs559021231	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:61621687C>T	ENST00000408945.3	+	3	320	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HMSD_ENST00000526932.1_Silent_p.I5I|HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	40						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R40*(1)		kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						AGATATTCATCGAGGTTTTCA	0.348																																					p.R40X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C118T	18						.						146.0	135.0	139.0					18																	61621687		1567	3582	5149	59772667	SO:0001587	stop_gained	284293	exon3			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.118C>T	18.37:g.61621687C>T	ENSP00000386207:p.Arg40*		59772667	NM_001123366		Nonsense_Mutation	SNP	ENST00000408945.3	37	CCDS42441.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.229233	0.79688	.	.	ENSG00000221887	ENST00000408945	.	.	.	3.19	-1.26	0.09376	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.0907	0.09968	0.0:0.3341:0.1936:0.4723	.	.	.	.	X	40	.	ENSP00000386207:R40X	R	+	1	2	HMSD	59772667	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.444000	0.01012	-0.299000	0.08909	-1.292000	0.01352	CGA		0.348	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134010.2	XM_209104	
FBXO15	201456	broad.mit.edu	37	18	71740731	71740731	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:71740731C>T	ENST00000419743.2	-	10	1577	c.1498G>A	c.(1498-1500)Gca>Aca	p.A500T	FBXO15_ENST00000269500.5_Missense_Mutation_p.A424T|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	500						SCF ubiquitin ligase complex (GO:0019005)		p.A424T(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTGATTTTTGCGATACTAAGA	0.408																																					p.A424T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1270A	18						.						166.0	164.0	165.0					18																	71740731		2203	4300	6503	69891711	SO:0001583	missense	201456	exon10			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1498G>A	18.37:g.71740731C>T	ENSP00000393154:p.Ala500Thr		69891711	NM_152676	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	c	9.804	1.181231	0.21787	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.42131	0.98;0.98	5.78	3.05	0.35203	.	0.532611	0.21485	N	0.073761	T	0.35219	0.0924	L	0.59436	1.845	0.09310	N	1	B;B	0.22480	0.07;0.041	B;B	0.13407	0.009;0.003	T	0.30268	-0.9984	10	0.52906	T	0.07	-25.1684	6.7033	0.23236	0.0:0.6066:0.1229:0.2705	.	500;424	B3KST3;Q8NCQ5	.;FBX15_HUMAN	T	424;500	ENSP00000269500:A424T;ENSP00000393154:A500T	ENSP00000269500:A424T	A	-	1	0	FBXO15	69891711	0.000000	0.05858	0.006000	0.13384	0.113000	0.19764	0.112000	0.15479	0.810000	0.34279	0.651000	0.88453	GCA		0.408	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
ZNF407	55628	broad.mit.edu	37	18	72343694	72343694	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:72343694C>T	ENST00000299687.5	+	1	719	c.719C>T	c.(718-720)cCa>cTa	p.P240L	ZNF407_ENST00000577538.1_Missense_Mutation_p.P240L|ZNF407_ENST00000309902.6_Missense_Mutation_p.P240L|ZNF407_ENST00000582337.1_Missense_Mutation_p.P240L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	240					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.P240L(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)		GCACATGGGCCACAGAAGGTC	0.443																																					p.P240L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719T	18						.						139.0	143.0	142.0					18																	72343694		2064	4217	6281	70472682	SO:0001583	missense	55628	exon1			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.719C>T	18.37:g.72343694C>T	ENSP00000299687:p.Pro240Leu		70472682	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	7.901	0.734427	0.15574	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.15256	2.44;2.44	5.3	1.33	0.21861	.	1.208170	0.07136	U	0.846430	T	0.13670	0.0331	L	0.38175	1.15	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.001	T	0.42749	-0.9433	10	0.27082	T	0.32	.	5.4334	0.16466	0.1942:0.5569:0.0:0.2489	.	240;240;240	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	240	ENSP00000299687:P240L;ENSP00000310359:P240L	ENSP00000299687:P240L	P	+	2	0	ZNF407	70472682	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.651000	0.24873	-2.871000	0.00323	-1.410000	0.01125	CCA		0.443	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72589278	72589278	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:72589278T>C	ENST00000299687.5	+	4	5003	c.5003T>C	c.(5002-5004)cTc>cCc	p.L1668P	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.L1668P	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1668					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.L1668P(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)		TACTCATTCCTCACAGCCTCC	0.552																																					p.L1668P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5003C	18						.						100.0	101.0	101.0					18																	72589278		1964	4158	6122	70718266	SO:0001583	missense	55628	exon4			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.5003T>C	18.37:g.72589278T>C	ENSP00000299687:p.Leu1668Pro		70718266	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266175	0.80358	.	.	ENSG00000215421	ENST00000299687	T	0.18960	2.18	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000050	T	0.26011	0.0634	N	0.05078	-0.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.26985	-1.0087	10	0.30078	T	0.28	.	14.9446	0.71020	0.0:0.0:0.0:1.0	.	1668;1668	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	P	1668	ENSP00000299687:L1668P	ENSP00000299687:L1668P	L	+	2	0	ZNF407	70718266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.675000	0.84002	0.868000	0.35678	0.591000	0.81541	CTC		0.552	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF236	7776	broad.mit.edu	37	18	74620330	74620330	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:74620330C>T	ENST00000253159.8	+	14	2544	c.2346C>T	c.(2344-2346)gaC>gaT	p.D782D	ZNF236_ENST00000320610.9_Silent_p.D784D	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	782					cellular response to glucose stimulus (GO:0071333)|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.D782D(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGATAGATGACAGCACTGTAG	0.537																																					p.D782D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2346T	18						.						113.0	121.0	118.0					18																	74620330		2094	4219	6313	72749318	SO:0001819	synonymous_variant	7776	exon14			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2346C>T	18.37:g.74620330C>T			72749318	NM_007345	B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	CCDS42447.1																																																																																				0.537	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
MTCL1	23255	broad.mit.edu	37	18	8793003	8793003	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:8793003G>C	ENST00000359865.3	+	8	2037	c.1895G>C	c.(1894-1896)gGc>gCc	p.G632A	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2												p.G632A(1)									CAGCTCAGGGGCCCCCCCGTT	0.557																																					p.G632A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1895C	18						.						98.0	108.0	104.0					18																	8793003		2203	4300	6503	8783003	SO:0001583	missense	23255	exon8																														ENST00000359865.3:c.1895G>C	18.37:g.8793003G>C	ENSP00000352927:p.Gly632Ala		8783003	NM_015210		Missense_Mutation	SNP	ENST00000359865.3	37	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	G	7.950	0.744701	0.15710	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.53423	0.62	5.11	1.73	0.24493	.	1.118990	0.06938	N	0.812347	T	0.26593	0.0650	N	0.22421	0.69	0.37725	D	0.925079	P	0.36535	0.557	B	0.31101	0.124	T	0.26815	-1.0092	10	0.08837	T	0.75	.	5.8219	0.18532	0.2929:0.1603:0.5467:0.0	.	632	Q9Y4B5-3	.	A	653;632	ENSP00000352927:G632A	ENSP00000305027:G653A	G	+	2	0	CCDC165	8783003	0.564000	0.26602	0.142000	0.22268	0.831000	0.47069	0.578000	0.23773	0.518000	0.28383	0.561000	0.74099	GGC		0.557	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1		
TWSG1	57045	broad.mit.edu	37	18	9399374	9399374	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:9399374A>G	ENST00000262120.5	+	5	712	c.521A>G	c.(520-522)gAc>gGc	p.D174G		NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	174					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D174G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TATTTTGATGACTGCATGTCC	0.363																																					p.D174G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521G	18						.						114.0	103.0	106.0					18																	9399374		2203	4300	6503	9389374	SO:0001583	missense	57045	exon5			AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.521A>G	18.37:g.9399374A>G	ENSP00000262120:p.Asp174Gly		9389374	NM_020648	B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825175	0.71143	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.06	5.06	0.68205	.	0.137580	0.64402	D	0.000004	T	0.53530	0.1802	L	0.54323	1.7	0.80722	D	1	P	0.38677	0.642	B	0.36808	0.233	T	0.60161	-0.7317	9	0.66056	D	0.02	-36.1303	13.995	0.64390	1.0:0.0:0.0:0.0	.	174	Q9GZX9	TWSG1_HUMAN	G	174	.	ENSP00000262120:D174G	D	+	2	0	TWSG1	9389374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.248000	0.95456	1.914000	0.55421	0.397000	0.26171	GAC		0.363	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2		
ADNP2	22850	broad.mit.edu	37	18	77894375	77894375	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr18:77894375G>A	ENST00000262198.4	+	4	1534	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	360	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.G360E(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTTCTCACGGGGTTCCACTT	0.562																																					p.G360E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1079A	18						.						68.0	64.0	66.0					18																	77894375		2203	4300	6503	75995366	SO:0001583	missense	22850	exon4			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1079G>A	18.37:g.77894375G>A	ENSP00000262198:p.Gly360Glu		75995366	NM_014913	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.225054	0.22457	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.23	4.36	0.52297	.	0.312116	0.26875	N	0.022049	T	0.32315	0.0825	N	0.24115	0.695	0.09310	N	1	B	0.33612	0.419	B	0.37943	0.261	T	0.17623	-1.0363	8	.	.	.	-11.328	14.0369	0.64651	0.0723:0.0:0.9277:0.0	.	360	Q6IQ32	ADNP2_HUMAN	E	360	.	.	G	+	2	0	ADNP2	75995366	0.997000	0.39634	0.079000	0.20413	0.194000	0.23727	4.564000	0.60830	1.439000	0.47511	0.650000	0.86243	GGG		0.562	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
CDC37	11140	broad.mit.edu	37	19	10506775	10506775	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:10506775C>A	ENST00000222005.2	-	2	260	c.207G>T	c.(205-207)aaG>aaT	p.K69N		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	69					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.K69N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTCCAGCTCCTTCAGTTTCC	0.662																																					p.K69N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G207T	19						.						88.0	91.0	90.0					19																	10506775		2203	4300	6503	10367775	SO:0001583	missense	11140	exon2			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.207G>T	19.37:g.10506775C>A	ENSP00000222005:p.Lys69Asn		10367775	NM_007065	Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060591	0.19987	.	.	ENSG00000105401	ENST00000222005	T	0.48201	0.82	4.11	3.05	0.35203	Cdc37, N-terminal (1);	0.252016	0.39020	N	0.001499	T	0.24851	0.0603	N	0.17474	0.49	0.35205	D	0.774623	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.007	T	0.17623	-1.0363	10	0.20046	T	0.44	.	4.6096	0.12395	0.2201:0.6649:0.0:0.115	.	69;69	Q6FG59;Q16543	.;CDC37_HUMAN	N	69	ENSP00000222005:K69N	ENSP00000222005:K69N	K	-	3	2	CDC37	10367775	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	1.728000	0.38105	2.013000	0.59113	0.555000	0.69702	AAG		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065	
DOCK6	57572	broad.mit.edu	37	19	11353977	11353977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:11353977C>T	ENST00000294618.7	-	12	1354	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	448					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.G448D(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGGACGGAAGCCAGAGAAGCT	0.662											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G448D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1343A	19						.						21.0	26.0	24.0					19																	11353977		1975	4139	6114	11214977	SO:0001583	missense	57572	exon12				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1343G>A	19.37:g.11353977C>T	ENSP00000294618:p.Gly448Asp	671	11214977	NM_020812	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439288	0.43326	.	.	ENSG00000130158	ENST00000294618	T	0.34275	1.37	4.15	2.84	0.33178	.	0.481287	0.21909	N	0.067332	T	0.16171	0.0389	N	0.04880	-0.145	0.80722	D	1	B	0.14012	0.009	B	0.19946	0.027	T	0.07028	-1.0794	10	0.52906	T	0.07	-15.4332	4.8716	0.13635	0.0:0.6023:0.2118:0.1859	.	448	Q96HP0	DOCK6_HUMAN	D	448	ENSP00000294618:G448D	ENSP00000294618:G448D	G	-	2	0	DOCK6	11214977	0.005000	0.15991	0.937000	0.37676	0.928000	0.56348	0.611000	0.24268	1.861000	0.53984	0.462000	0.41574	GGC		0.662	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	
ZNF20	7568	broad.mit.edu	37	19	12243917	12243917	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:12243917T>C	ENST00000334213.5	-	4	1308	c.1084A>G	c.(1084-1086)Act>Gct	p.T362A	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'Flank|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	362					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.T362A(1)		endometrium(1)|kidney(1)|lung(6)	8						TTATCCTCAGTGTGTGTCTTT	0.458																																					p.T362A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1084G	19						.						55.0	56.0	56.0					19																	12243917		2198	4295	6493	12104917	SO:0001583	missense	7568	exon4			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1084A>G	19.37:g.12243917T>C	ENSP00000335437:p.Thr362Ala		12104917	NM_021143	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706639	0.30232	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.26518	1.73	0.874	0.874	0.19124	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	L	0.52573	1.65	0.29103	N	0.881389	B	0.22414	0.069	B	0.27715	0.082	T	0.29852	-0.9998	9	0.87932	D	0	.	5.9089	0.19016	0.0:0.0:0.0:1.0	.	362	P17024	ZNF20_HUMAN	A	362	ENSP00000335437:T362A	ENSP00000292241:T362A	T	-	1	0	ZNF20	12104917	0.920000	0.31207	0.020000	0.16555	0.086000	0.17979	0.633000	0.24598	0.618000	0.30179	0.172000	0.16884	ACT		0.458	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143	
LPHN1	22859	broad.mit.edu	37	19	14272287	14272287	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:14272287C>T	ENST00000340736.6	-	7	1659	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Silent_p.L449L|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	454					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.L454L(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGCTGGAGGCAGATCAGGTC	0.716																																					p.L449L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1347A	19						.						14.0	15.0	15.0					19																	14272287		2164	4248	6412	14133287	SO:0001819	synonymous_variant	22859	exon6			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1362G>A	19.37:g.14272287C>T			14133287	NM_014921	Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	CCDS32928.1																																																																																				0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
EMR3	84658	broad.mit.edu	37	19	14748918	14748918	+	Splice_Site	SNP	G	G	A	rs149254238		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:14748918G>A	ENST00000253673.5	-	11	1583	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*	EMR3_ENST00000344373.4_Splice_Site_p.R443*|EMR3_ENST00000443157.2_Splice_Site_p.R369*|EMR3_ENST00000599900.1_Splice_Site_p.R280*	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	495					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R495*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAAGCTCACCGATCAGCAGTT	0.498																																					p.R495X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1483T	19						.	G	stop/ARG	0,4406		0,0,2203	102.0	88.0	93.0		1483	0.8	0.0	19	dbSNP_134	93	3,8597	3.0+/-9.4	0,3,4297	no	stop-gained-near-splice	EMR3	NM_032571.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		495/653	14748918	3,13003	2203	4300	6503	14609918	SO:0001630	splice_region_variant	84658	exon11			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1484+1C>T	19.37:g.14748918G>A			14609918	NM_032571		Nonsense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253892	0.95336	0.0	3.49E-4	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	.	.	.	4.35	0.774	0.18521	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2962	0.10902	0.111:0.0:0.4803:0.4087	.	.	.	.	X	369;495;443	.	ENSP00000253673:R495X	R	-	1	2	EMR3	14609918	0.052000	0.20516	0.034000	0.17996	0.008000	0.06430	0.728000	0.26013	0.988000	0.38734	0.655000	0.94253	CGA		0.498	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	Nonsense_Mutation
NOTCH3	4854	broad.mit.edu	37	19	15273350	15273350	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:15273350C>T	ENST00000263388.2	-	32	5914	c.5839G>A	c.(5839-5841)Gcg>Acg	p.A1947T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1947					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A1947T(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTCACAGCCGCAGCCCAGTGT	0.577																																					p.A1947T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5839A	19						.						68.0	56.0	60.0					19																	15273350		2203	4300	6503	15134350	SO:0001583	missense	4854	exon32			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5839G>A	19.37:g.15273350C>T	ENSP00000263388:p.Ala1947Thr		15134350	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164974	0.94727	.	.	ENSG00000074181	ENST00000263388	T	0.71817	-0.6	4.55	4.55	0.56014	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.84570	0.5501	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86960	0.2091	9	0.87932	D	0	.	16.6067	0.84831	0.0:1.0:0.0:0.0	.	1947	Q9UM47	NOTC3_HUMAN	T	1947	ENSP00000263388:A1947T	ENSP00000263388:A1947T	A	-	1	0	NOTCH3	15134350	1.000000	0.71417	0.983000	0.44433	0.948000	0.59901	7.304000	0.78882	2.541000	0.85698	0.650000	0.86243	GCG		0.577	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
CYP4F12	66002	broad.mit.edu	37	19	15791241	15791241	+	Missense_Mutation	SNP	G	G	A	rs201727887	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:15791241G>A	ENST00000550308.1	+	5	817	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R146H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	146					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R146H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AAGTGGAGCCGCCACCGTCGG	0.552													.|||	8	0.00159744	0.003	0.0	5008	,	,		18381	0.004		0.0	False		,,,				2504	0.0				p.R146H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	19						.	G	HIS/ARG	7,4397		0,7,2195	26.0	30.0	29.0		437	-3.0	0.0	19		29	2,8592		0,2,4295	no	missense	CYP4F12	NM_023944.3	29	0,9,6490	AA,AG,GG		0.0233,0.1589,0.0692	benign	146/525	15791241	9,12989	2202	4297	6499	15652241	SO:0001583	missense	66002	exon5			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.437G>A	19.37:g.15791241G>A	ENSP00000448998:p.Arg146His		15652241	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	3.972	-0.008247	0.07727	0.001589	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69306	-0.39;-0.39	2.92	-2.95	0.05564	.	0.171432	0.39475	N	0.001360	T	0.54983	0.1892	L	0.53249	1.67	0.22693	N	0.998841	B;B	0.28439	0.212;0.031	B;B	0.32465	0.146;0.04	T	0.50575	-0.8812	10	0.44086	T	0.13	.	7.658	0.28386	0.5238:0.0:0.4762:0.0	.	146;146	B4E270;Q9HCS2	.;CP4FC_HUMAN	H	146	ENSP00000448998:R146H;ENSP00000321821:R146H	ENSP00000321821:R146H	R	+	2	0	CYP4F12	15652241	0.000000	0.05858	0.020000	0.16555	0.049000	0.14656	-0.517000	0.06275	-0.303000	0.08856	-0.458000	0.05436	CGC		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
SIN3B	23309	broad.mit.edu	37	19	16957795	16957795	+	Silent	SNP	C	C	T	rs191373709		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:16957795C>T	ENST00000248054.5	+	5	618	c.597C>T	c.(595-597)aaC>aaT	p.N199N	SIN3B_ENST00000596802.1_Silent_p.N199N|CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000379803.1_Silent_p.N199N					SIN3 transcription regulator family member B									p.N199N(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCAGCTGAACACGAGGGGCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18142	0.0		0.001	False		,,,				2504	0.0				p.N199N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C597T	19						.						81.0	86.0	85.0					19																	16957795		2203	4300	6503	16818795	SO:0001819	synonymous_variant	23309	exon5			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.597C>T	19.37:g.16957795C>T			16818795	NM_015260		Silent	SNP	ENST00000248054.5	37																																																																																					0.592	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
GTPBP3	84705	broad.mit.edu	37	19	17449472	17449472	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:17449472G>A	ENST00000324894.8	+	4	581	c.513G>A	c.(511-513)gcG>gcA	p.A171A	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Silent_p.A193A|GTPBP3_ENST00000600625.1_Silent_p.A171A|GTPBP3_ENST00000358792.7_Silent_p.A171A	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	171					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A171A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AAACAGAGGCGCAGCGGCGGC	0.657																																					p.A171A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G513A	19						.						36.0	48.0	44.0					19																	17449472		2202	4298	6500	17310472	SO:0001819	synonymous_variant	84705	exon4			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.513G>A	19.37:g.17449472G>A			17310472	NM_032620	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																				0.657	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
COLGALT1	79709	broad.mit.edu	37	19	17678290	17678290	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:17678290G>A	ENST00000252599.4	+	4	685	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	189					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)	p.A189T(1)									GACGGTGGTCGCCCCCATGCT	0.577																																					p.A189T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565A	19						.						88.0	70.0	76.0					19																	17678290		2203	4300	6503	17539290	SO:0001583	missense	79709	exon4			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.565G>A	19.37:g.17678290G>A	ENSP00000252599:p.Ala189Thr		17539290	NM_024656	Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961675	0.92791	.	.	ENSG00000130309	ENST00000252599	D	0.86432	-2.12	4.56	4.56	0.56223	.	0.056167	0.64402	D	0.000001	D	0.93808	0.8020	M	0.93062	3.375	0.80722	D	1	D	0.64830	0.994	P	0.58928	0.848	D	0.95315	0.8415	10	0.87932	D	0	-5.6402	14.8241	0.70097	0.0:0.0:1.0:0.0	.	189	Q8NBJ5	GT251_HUMAN	T	189	ENSP00000252599:A189T	ENSP00000252599:A189T	A	+	1	0	GLT25D1	17539290	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.278000	0.72614	2.106000	0.64143	0.491000	0.48974	GCC		0.577	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656	
MAP1S	55201	broad.mit.edu	37	19	17831799	17831799	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:17831799A>G	ENST00000324096.4	+	2	324	c.173A>G	c.(172-174)aAg>aGg	p.K58R	MAP1S_ENST00000544059.2_Missense_Mutation_p.K32R|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	58	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.K58R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GAACAGCTCAAGGTCTTTGTG	0.587																																					p.K58R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A173G	19						.						145.0	125.0	132.0					19																	17831799		2203	4300	6503	17692799	SO:0001583	missense	55201	exon2			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.173A>G	19.37:g.17831799A>G	ENSP00000325313:p.Lys58Arg		17692799	NM_018174	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	a	16.03	3.008336	0.54361	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.21734	1.99;1.99	3.87	2.85	0.33270	.	0.261049	0.26635	N	0.023296	T	0.34019	0.0883	L	0.52266	1.64	0.44825	D	0.997836	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.929	T	0.02371	-1.1169	10	0.36615	T	0.2	-20.2612	7.1898	0.25818	0.8861:0.0:0.1139:0.0	.	32;58;58	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	R	58;32	ENSP00000325313:K58R;ENSP00000439243:K32R	ENSP00000325313:K58R	K	+	2	0	MAP1S	17692799	1.000000	0.71417	0.940000	0.37924	0.531000	0.34715	4.456000	0.60081	0.487000	0.27698	0.398000	0.26397	AAG		0.587	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
UBA52	7311	broad.mit.edu	37	19	18685701	18685701	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:18685701T>C	ENST00000442744.2	+	4	270	c.212T>C	c.(211-213)tTg>tCg	p.L71S	UBA52_ENST00000595683.1_Missense_Mutation_p.L71S|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.L71S|UBA52_ENST00000596304.1_Missense_Mutation_p.L71S|UBA52_ENST00000599595.1_Missense_Mutation_p.L71S|UBA52_ENST00000596273.1_Missense_Mutation_p.L71S|UBA52_ENST00000430157.2_Missense_Mutation_p.L71S|UBA52_ENST00000598780.1_Missense_Mutation_p.L71S|UBA52_ENST00000597451.1_Missense_Mutation_p.L71S|UBA52_ENST00000595158.1_Missense_Mutation_p.L71S	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	71	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.L71S(1)		endometrium(1)|large_intestine(2)	3						CACCTGGTGTTGCGCCTGCGA	0.607																																					p.L71S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T212C	19						.						41.0	35.0	37.0					19																	18685701		2203	4300	6503	18546701	SO:0001583	missense	7311	exon4				CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.212T>C	19.37:g.18685701T>C	ENSP00000388107:p.Leu71Ser		18546701	NM_001033930	P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257872	0.80246	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.75367	-0.93;-0.93	4.52	4.52	0.55395	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.85388	0.5685	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.87160	0.2214	10	0.87932	D	0	-18.7256	11.7658	0.51930	0.0:0.0:0.0:1.0	.	71	P62987	RL40_HUMAN	S	71	ENSP00000388107:L71S;ENSP00000396910:L71S	ENSP00000396910:L71S	L	+	2	0	UBA52	18546701	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	7.852000	0.86927	1.667000	0.50832	0.379000	0.24179	TTG		0.607	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333	
UPF1	5976	broad.mit.edu	37	19	18972856	18972856	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:18972856G>A	ENST00000599848.1	+	18	2737	c.2528G>A	c.(2527-2529)cGc>cAc	p.R843H	UPF1_ENST00000262803.5_Missense_Mutation_p.R832H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	843					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R832H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTTCAGGGACGCGAGAAGGAC	0.582																																					p.R832H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2495A	19						.						93.0	74.0	80.0					19																	18972856		2203	4300	6503	18833856	SO:0001583	missense	5976	exon18			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2528G>A	19.37:g.18972856G>A	ENSP00000470142:p.Arg843His		18833856	NM_002911	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.146625	0.77888	.	.	ENSG00000005007	ENST00000262803	D	0.93488	-3.23	5.06	5.06	0.68205	.	0.062962	0.64402	D	0.000004	D	0.96119	0.8735	M	0.93854	3.465	0.80722	D	1	D;D	0.64830	0.963;0.994	B;P	0.49665	0.443;0.618	D	0.97158	0.9836	10	0.87932	D	0	-28.5328	15.5613	0.76249	0.0:0.0:1.0:0.0	.	843;832	Q92900;Q92900-2	RENT1_HUMAN;.	H	832	ENSP00000262803:R832H	ENSP00000262803:R832H	R	+	2	0	UPF1	18833856	1.000000	0.71417	0.152000	0.22495	0.964000	0.63967	9.396000	0.97270	2.341000	0.79615	0.563000	0.77884	CGC		0.582	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
NCAN	1463	broad.mit.edu	37	19	19329890	19329890	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:19329890G>T	ENST00000252575.6	+	3	339	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	80	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.K80N(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGTGGACCAAGGTGCGGACTG	0.652																																					p.K80N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G240T	19						.						58.0	51.0	53.0					19																	19329890		2203	4300	6503	19190890	SO:0001583	missense	1463	exon3			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.240G>T	19.37:g.19329890G>T	ENSP00000252575:p.Lys80Asn		19190890	NM_004386	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917373	0.33815	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.71698	-0.59	4.55	1.14	0.20703	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39909	N	0.001231	T	0.79299	0.4422	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.76547	-0.2919	10	0.46703	T	0.11	.	6.448	0.21887	0.388:0.0:0.612:0.0	.	80	O14594	NCAN_HUMAN	N	94;80	ENSP00000252575:K80N	ENSP00000252575:K80N	K	+	3	2	NCAN	19190890	0.974000	0.33945	1.000000	0.80357	0.775000	0.43874	0.110000	0.15437	0.857000	0.35407	0.491000	0.48974	AAG		0.652	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
HAPLN4	404037	broad.mit.edu	37	19	19369425	19369425	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:19369425C>T	ENST00000291481.7	-	4	787	c.724G>A	c.(724-726)Ggc>Agc	p.G242S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	242	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.G242S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCATCACCGCCGCCCCCTGCA	0.701																																					p.G242S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	19						.						39.0	36.0	37.0					19																	19369425		2203	4299	6502	19230425	SO:0001583	missense	404037	exon4			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.724G>A	19.37:g.19369425C>T	ENSP00000291481:p.Gly242Ser		19230425	NM_023002	A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	9.349	1.065126	0.20067	.	.	ENSG00000187664	ENST00000291481	T	0.05996	3.36	2.79	0.648	0.17801	C-type lectin fold (1);Link (3);C-type lectin-like (1);	.	.	.	.	T	0.24774	0.0601	M	0.91300	3.195	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.05716	-1.0868	9	0.52906	T	0.07	-7.4325	4.0073	0.09607	0.0:0.6093:0.2488:0.1419	.	242	Q86UW8	HPLN4_HUMAN	S	242	ENSP00000291481:G242S	ENSP00000291481:G242S	G	-	1	0	HAPLN4	19230425	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.145000	0.10265	0.258000	0.21686	-0.651000	0.03910	GGC		0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002	
ZNF430	80264	broad.mit.edu	37	19	21239956	21239956	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:21239956T>C	ENST00000261560.5	+	5	1023	c.842T>C	c.(841-843)aTa>aCa	p.I281T	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	281					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I281T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACACATAAGATAATTCATACT	0.393																																					p.I280T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T839C	19						.						56.0	61.0	59.0					19																	21239956		2203	4297	6500	21031796	SO:0001583	missense	80264	exon5			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.842T>C	19.37:g.21239956T>C	ENSP00000261560:p.Ile281Thr		21031796	NM_001172671	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.882	-0.728399	0.03135	.	.	ENSG00000118620	ENST00000261560	T	0.18338	2.22	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.03999	-0.3	0.25355	N	0.988835	P;B	0.43231	0.801;0.082	B;B	0.43225	0.412;0.055	T	0.13495	-1.0507	9	0.51188	T	0.08	.	0.7341	0.00962	0.1968:0.2047:0.3701:0.2284	.	280;281	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	T	281	ENSP00000261560:I281T	ENSP00000261560:I281T	I	+	2	0	ZNF430	21031796	0.000000	0.05858	0.015000	0.15790	0.014000	0.08584	0.263000	0.18478	-0.649000	0.05430	-0.714000	0.03626	ATA		0.393	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
ZNF676	163223	broad.mit.edu	37	19	22364250	22364250	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:22364250T>C	ENST00000397121.2	-	3	586	c.269A>G	c.(268-270)gAg>gGg	p.E90G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	90					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.E90G(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACGTTACACTCATCCACATT	0.323																																					p.E90G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A269G	19						.						120.0	111.0	114.0					19																	22364250		1964	4172	6136	22156090	SO:0001583	missense	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.269A>G	19.37:g.22364250T>C	ENSP00000380310:p.Glu90Gly		22156090	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	6.207	0.406351	0.11754	.	.	ENSG00000196109	ENST00000397121	T	0.08720	3.06	0.398	0.398	0.16319	.	.	.	.	.	T	0.14485	0.0350	M	0.90145	3.09	0.09310	N	1	P	0.41232	0.743	B	0.41332	0.354	T	0.20371	-1.0277	9	0.72032	D	0.01	.	2.5018	0.04635	0.4512:0.0:0.0:0.5488	.	90	Q8N7Q3	ZN676_HUMAN	G	90	ENSP00000380310:E90G	ENSP00000380310:E90G	E	-	2	0	ZNF676	22156090	0.010000	0.17322	0.073000	0.20177	0.254000	0.26022	1.212000	0.32394	0.382000	0.24878	0.156000	0.16432	GAG		0.323	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF675	171392	broad.mit.edu	37	19	23836142	23836142	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:23836142A>G	ENST00000359788.4	-	4	1761	c.1593T>C	c.(1591-1593)acT>acC	p.T531T	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	531					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T531T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTTCTCTCCAGTATGAATTA	0.343																																					p.T531T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1593C	19						.						70.0	71.0	70.0					19																	23836142		2202	4300	6502	23627982	SO:0001819	synonymous_variant	171392	exon4				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1593T>C	19.37:g.23836142A>G			23627982	NM_138330	Q8N211	Silent	SNP	ENST00000359788.4	37	CCDS32981.1																																																																																				0.343	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
TSHZ3	57616	broad.mit.edu	37	19	31770477	31770477	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:31770477G>A	ENST00000240587.4	-	2	549	c.222C>T	c.(220-222)agC>agT	p.S74S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	74					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S74S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGTGTGACTCGCTGTCCATTT	0.592																																					p.S74S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	19						.						55.0	54.0	54.0					19																	31770477		1982	4150	6132	36462317	SO:0001819	synonymous_variant	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.222C>T	19.37:g.31770477G>A			36462317	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
GPATCH1	55094	broad.mit.edu	37	19	33585113	33585113	+	Missense_Mutation	SNP	G	G	A	rs375323278		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:33585113G>A	ENST00000170564.2	+	5	805	c.491G>A	c.(490-492)gGt>gAt	p.G164D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	164	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.G164D(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGAAAAATGGGTTGGAAAGAA	0.378																																					p.G164D	Pancreas(67;88 1713 4567 18227)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	19						.						109.0	112.0	111.0					19																	33585113		2203	4300	6503	38276953	SO:0001583	missense	55094	exon5			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.491G>A	19.37:g.33585113G>A	ENSP00000170564:p.Gly164Asp		38276953	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948570	0.92593	.	.	ENSG00000076650	ENST00000170564	D	0.99270	-5.66	5.46	5.46	0.80206	D111/G-patch (3);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98554	1.0638	10	0.87932	D	0	-19.133	18.3148	0.90217	0.0:0.0:1.0:0.0	.	164	Q9BRR8	GPTC1_HUMAN	D	164	ENSP00000170564:G164D	ENSP00000170564:G164D	G	+	2	0	GPATCH1	38276953	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.536000	0.90627	2.574000	0.86865	0.460000	0.39030	GGT		0.378	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
UBA2	10054	broad.mit.edu	37	19	34935922	34935922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:34935922G>A	ENST00000246548.4	+	8	737	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	UBA2_ENST00000439527.2_Missense_Mutation_p.E127K	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	223					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.E223K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AACGGAAGCCGAAGCCAGAGC	0.353																																					p.E223K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G667A	19						.						93.0	92.0	92.0					19																	34935922		2203	4300	6503	39627762	SO:0001583	missense	10054	exon8			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.667G>A	19.37:g.34935922G>A	ENSP00000246548:p.Glu223Lys		39627762	NM_005499	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993248	0.54041	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.58940	0.3;1.47	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.047359	0.85682	D	0.000000	T	0.48804	0.1520	L	0.40543	1.245	0.80722	D	1	B	0.18863	0.031	B	0.04013	0.001	T	0.42481	-0.9449	10	0.11794	T	0.64	-28.048	18.524	0.90965	0.0:0.0:1.0:0.0	.	223	Q9UBT2	SAE2_HUMAN	K	96;223;127	ENSP00000246548:E223K;ENSP00000437484:E127K	ENSP00000246548:E223K	E	+	1	0	UBA2	39627762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.713000	0.91408	2.736000	0.93811	0.591000	0.81541	GAA		0.353	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	
LGI4	163175	broad.mit.edu	37	19	35622933	35622933	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:35622933T>C	ENST00000310123.3	-	4	847	c.328A>G	c.(328-330)Aat>Gat	p.N110D	LGI4_ENST00000591633.1_Missense_Mutation_p.N110D|LGI4_ENST00000392225.3_Missense_Mutation_p.N110D|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	110					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)		p.N110D(1)		endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAATCTCATTGTCCTCGATG	0.602																																					p.N110D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A328G	19						.						118.0	88.0	98.0					19																	35622933		2202	4297	6499	40314773	SO:0001583	missense	163175	exon4			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.328A>G	19.37:g.35622933T>C	ENSP00000312273:p.Asn110Asp		40314773	NM_139284	B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308765	0.81247	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.74526	-0.85;-0.85	3.66	3.66	0.41972	.	0.000000	0.56097	D	0.000027	D	0.88793	0.6533	H	0.95539	3.685	0.37084	D	0.899128	D;D	0.76494	0.999;0.995	D;P	0.83275	0.996;0.802	D	0.92088	0.5678	10	0.87932	D	0	.	10.3597	0.43987	0.0:0.0:0.0:1.0	.	110;110	Q8N135-2;Q8N135	.;LGI4_HUMAN	D	110	ENSP00000312273:N110D;ENSP00000376059:N110D	ENSP00000312273:N110D	N	-	1	0	LGI4	40314773	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.423000	0.80229	1.553000	0.49476	0.248000	0.18094	AAT		0.602	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1		
FXYD5	53827	broad.mit.edu	37	19	35648346	35648346	+	Silent	SNP	G	G	A	rs148496458		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:35648346G>A	ENST00000342879.3	+	2	862	c.84G>A	c.(82-84)acG>acA	p.T28T	FXYD5_ENST00000590686.1_Silent_p.T28T|FXYD5_ENST00000423817.3_Silent_p.T28T|FXYD5_ENST00000588699.1_Silent_p.T28T|FXYD5_ENST00000541435.2_Silent_p.T28T|FXYD5_ENST00000392218.2_Silent_p.T28T|FXYD5_ENST00000543307.1_Silent_p.T28T|FXYD5_ENST00000392219.2_Silent_p.T28T			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	28					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)	p.T28T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			AAGATACCACGTCCAGTTCTT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18956	0.0		0.0	False		,,,				2504	0.001				p.T28T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G84A	19						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	103.0	82.0	89.0		84,84,84	-0.4	0.0	19	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FXYD5	NM_001164605.1,NM_014164.5,NM_144779.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	28/179,28/179,28/179	35648346	1,13005	2203	4300	6503	40340186	SO:0001819	synonymous_variant	53827	exon3			AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.84G>A	19.37:g.35648346G>A			40340186	NM_001164605	B7WNZ8|Q6UW44|Q9HC34|Q9P039	Silent	SNP	ENST00000342879.3	37	CCDS12447.1																																																																																				0.557	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164	
ARHGAP33	115703	broad.mit.edu	37	19	36271177	36271177	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:36271177C>T	ENST00000007510.4	+	7	710	c.566C>T	c.(565-567)gCg>gTg	p.A189V	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A53V|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A189V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	189	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.A189V(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCTGCAGTGGCGGCCGCCCAT	0.592																																					p.A189V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C566T	19						.						45.0	46.0	45.0					19																	36271177		2203	4300	6503	40963017	SO:0001583	missense	115703	exon7			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.566C>T	19.37:g.36271177C>T	ENSP00000007510:p.Ala189Val		40963017	NM_052948	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.932910	0.73442	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27890	1.64;1.64;1.64	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000002	T	0.52741	0.1753	L	0.58428	1.81	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.55347	-0.8155	10	0.62326	D	0.03	.	16.6967	0.85337	0.0:1.0:0.0:0.0	.	53;189	O14559-10;O14559-11	.;.	V	189;189;53	ENSP00000007510:A189V;ENSP00000320038:A189V;ENSP00000368227:A53V	ENSP00000007510:A189V	A	+	2	0	ARHGAP33	40963017	1.000000	0.71417	0.956000	0.39512	0.031000	0.12232	7.382000	0.79729	2.227000	0.72691	0.561000	0.74099	GCG		0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	
NPHS1	4868	broad.mit.edu	37	19	36334475	36334475	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:36334475G>T	ENST00000378910.5	-	17	2232	c.2233C>A	c.(2233-2235)Ctc>Atc	p.L745I	NPHS1_ENST00000353632.6_Missense_Mutation_p.L745I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	745	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.L745I(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGTCCTGGAGGGCACGGATG	0.617																																					p.L745I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2233A	19						.						104.0	89.0	94.0					19																	36334475		2203	4300	6503	41026315	SO:0001583	missense	4868	exon17				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2233C>A	19.37:g.36334475G>T	ENSP00000368190:p.Leu745Ile		41026315	NM_004646	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385311	0.25031	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.12569	2.67;2.67	5.04	3.9	0.45041	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.374645	0.26213	N	0.025665	T	0.07548	0.0190	N	0.26092	0.79	0.25864	N	0.983782	B	0.29955	0.263	B	0.27170	0.077	T	0.30208	-0.9986	10	0.06365	T	0.9	-23.3666	9.4904	0.38955	0.0:0.0:0.7372:0.2628	.	745	O60500	NPHN_HUMAN	I	745	ENSP00000368190:L745I;ENSP00000343634:L745I	ENSP00000343634:L745I	L	-	1	0	NPHS1	41026315	0.997000	0.39634	0.992000	0.48379	0.968000	0.65278	1.334000	0.33827	2.532000	0.85374	0.456000	0.33151	CTC		0.617	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
SHD	56961	broad.mit.edu	37	19	4280101	4280101	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:4280101G>A	ENST00000543264.2	+	1	1504	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	SHD_ENST00000599689.1_Missense_Mutation_p.R14Q	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	14								p.R14Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGGGGGTCGGAGGCCCCCT	0.667																																					p.R14Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G41A	19						.						16.0	21.0	19.0					19																	4280101		2199	4297	6496	4231101	SO:0001583	missense	56961	exon1			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.41G>A	19.37:g.4280101G>A	ENSP00000446058:p.Arg14Gln		4231101	NM_020209	Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952479	0.92660	.	.	ENSG00000105251	ENST00000543264	T	0.33654	1.4	4.36	4.36	0.52297	.	0.502736	0.20927	N	0.083166	T	0.45875	0.1364	L	0.59436	1.845	0.34167	D	0.669395	D	0.71674	0.998	P	0.57057	0.812	T	0.58457	-0.7633	10	0.42905	T	0.14	-12.2801	8.5899	0.33682	0.1092:0.0:0.8908:0.0	.	14	Q96IW2	SHD_HUMAN	Q	14	ENSP00000446058:R14Q	ENSP00000446058:R14Q	R	+	2	0	SHD	4231101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.862000	0.62976	2.118000	0.64928	0.484000	0.47621	CGG		0.667	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209	
ZNF790	388536	broad.mit.edu	37	19	37309860	37309860	+	Silent	SNP	G	G	A	rs529209345		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:37309860G>A	ENST00000356725.4	-	5	1506	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G462G(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TAAACTCTGAGCCATGAAGAA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		21260	0.0		0.001	False		,,,				2504	0.0				p.G462G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1386T	19						.						71.0	71.0	71.0					19																	37309860		2203	4300	6503	42001700	SO:0001819	synonymous_variant	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1386C>T	19.37:g.37309860G>A			42001700	NM_206894		Silent	SNP	ENST00000356725.4	37	CCDS12496.1																																																																																				0.373	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF585B	92285	broad.mit.edu	37	19	37680606	37680606	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:37680606T>C	ENST00000532828.2	-	4	500	c.249A>G	c.(247-249)gaA>gaG	p.E83E	ZNF585B_ENST00000527838.1_Silent_p.E83E|CTC-454I21.3_ENST00000585860.2_Silent_p.E83E|ZNF585B_ENST00000586320.1_Silent_p.E68E|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000531805.1_Silent_p.E28E	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E83E(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGCCCATGGTTCCTTTCCTT	0.502																																					p.E83E	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A249G	19						.						186.0	147.0	160.0					19																	37680606		2203	4300	6503	42372446	SO:0001819	synonymous_variant	92285	exon4			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.249A>G	19.37:g.37680606T>C			42372446	NM_152279	Q8IZD3|Q96JW6	Silent	SNP	ENST00000532828.2	37	CCDS12500.1																																																																																				0.502	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
ZNF540	163255	broad.mit.edu	37	19	38102835	38102835	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:38102835G>C	ENST00000592533.1	+	5	986	c.654G>C	c.(652-654)gaG>gaC	p.E218D	ZNF540_ENST00000589117.1_Missense_Mutation_p.E186D|ZNF540_ENST00000343599.5_Missense_Mutation_p.E218D|ZNF540_ENST00000316433.4_Missense_Mutation_p.E218D	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	218					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.E218D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTAAATGTGAGAAATGTGGGA	0.353																																					p.E218D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G654C	19						.						48.0	49.0	49.0					19																	38102835		2203	4299	6502	42794675	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.654G>C	19.37:g.38102835G>C	ENSP00000466274:p.Glu218Asp		42794675	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	6.318	0.426826	0.11987	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.16897	2.31	2.17	-4.34	0.03666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.21545	0.675	0.09310	N	1	B;B	0.18166	0.021;0.026	B;B	0.14023	0.006;0.01	T	0.29971	-0.9994	9	0.34782	T	0.22	.	3.7181	0.08446	0.2212:0.0:0.3912:0.3876	.	186;218	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	D	218;186	ENSP00000324598:E218D	ENSP00000324598:E218D	E	+	3	2	ZNF540	42794675	0.000000	0.05858	0.000000	0.03702	0.416000	0.31233	-8.220000	0.00023	-1.521000	0.01771	-0.657000	0.03884	GAG		0.353	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
DPF1	8193	broad.mit.edu	37	19	38707024	38707024	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:38707024G>T	ENST00000420980.2	-	7	722	c.696C>A	c.(694-696)gcC>gcA	p.A232A	DPF1_ENST00000412732.1_Silent_p.A194A|DPF1_ENST00000416611.1_Silent_p.A250A|DPF1_ENST00000456296.1_Silent_p.A250A|DPF1_ENST00000414789.1_Silent_p.A194A|DPF1_ENST00000355526.4_Silent_p.A276A	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	232					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.A205A(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGGACCCAGGCCAATTCTT	0.607																																					p.A194A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C582A	19						.						72.0	68.0	69.0					19																	38707024		2203	4300	6503	43398864	SO:0001819	synonymous_variant	8193	exon8			U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.696C>A	19.37:g.38707024G>T			43398864	NM_001135156	B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	G	8.924	0.961815	0.18583	.	.	ENSG00000011332	ENST00000355526	.	.	.	4.29	2.16	0.27623	.	.	.	.	.	T	0.55321	0.1913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50642	-0.8804	4	.	.	.	-5.5042	7.3969	0.26942	0.2739:0.0:0.7261:0.0	.	.	.	.	M	269	.	.	L	-	1	2	DPF1	43398864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.549000	0.23329	1.144000	0.42321	0.561000	0.74099	CTG		0.607	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1		
KCNK6	9424	broad.mit.edu	37	19	38817416	38817416	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:38817416C>T	ENST00000263372.3	+	2	613	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	169					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.A169V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CGGCGGGCGGCCTGCTGGCAC	0.667																																					p.A169V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C506T	19						.						56.0	58.0	58.0					19																	38817416		2203	4300	6503	43509256	SO:0001583	missense	9424	exon2			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.506C>T	19.37:g.38817416C>T	ENSP00000263372:p.Ala169Val		43509256	NM_004823	Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533201	0.64972	.	.	ENSG00000099337	ENST00000263372	T	0.25579	1.79	5.26	5.26	0.73747	.	0.109676	0.64402	D	0.000007	T	0.41789	0.1174	M	0.82630	2.6	0.40012	D	0.975303	P	0.50710	0.938	P	0.47162	0.54	T	0.49652	-0.8917	10	0.48119	T	0.1	.	16.3718	0.83365	0.0:1.0:0.0:0.0	.	169	Q9Y257	KCNK6_HUMAN	V	169	ENSP00000263372:A169V	ENSP00000263372:A169V	A	+	2	0	KCNK6	43509256	0.996000	0.38824	0.962000	0.40283	0.232000	0.25224	4.672000	0.61597	2.470000	0.83445	0.561000	0.74099	GCC		0.667	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823	
GGN	199720	broad.mit.edu	37	19	38877204	38877204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:38877204G>A	ENST00000334928.6	-	3	830	c.698C>T	c.(697-699)gCg>gTg	p.A233V	SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	233	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.A233V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCGGAATCCGCAGGCTGGGC	0.662																																					p.A233V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	19						.						15.0	17.0	16.0					19																	38877204		2084	4137	6221	43569044	SO:0001583	missense	199720	exon3			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.698C>T	19.37:g.38877204G>A	ENSP00000334940:p.Ala233Val		43569044	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	1.765	-0.485795	0.04352	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.91	-1.23	0.09465	.	0.574699	0.14472	N	0.317540	T	0.24967	0.0606	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.10450	0.005;0.005	T	0.17258	-1.0375	9	0.30854	T	0.27	-0.8878	9.3713	0.38256	0.3789:0.0:0.6211:0.0	.	150;233	Q86UU5-2;Q86UU5	.;GGN_HUMAN	V	233	.	ENSP00000334940:A233V	A	-	2	0	GGN	43569044	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.064000	0.14437	-0.266000	0.09339	-1.598000	0.00824	GCG		0.662	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
CHAF1A	10036	broad.mit.edu	37	19	4430604	4430604	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:4430604A>G	ENST00000301280.5	+	11	2014	c.1913A>G	c.(1912-1914)cAt>cGt	p.H638R	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	638					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.H638R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGTGCCCCATGGGTACCTG	0.493								Chromatin Structure																													p.H638R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1913G	19						.						153.0	121.0	132.0					19																	4430604		2203	4300	6503	4381604	SO:0001583	missense	10036	exon11			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1913A>G	19.37:g.4430604A>G	ENSP00000301280:p.His638Arg		4381604	NM_005483	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315217	0.60524	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25414	1.8	4.25	4.25	0.50352	.	.	.	.	.	T	0.51381	0.1671	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.58312	-0.7658	9	0.87932	D	0	-25.3162	12.6767	0.56897	1.0:0.0:0.0:0.0	.	638	Q13111	CAF1A_HUMAN	R	638	ENSP00000301280:H638R	ENSP00000301280:H638R	H	+	2	0	CHAF1A	4381604	1.000000	0.71417	0.989000	0.46669	0.563000	0.35712	8.189000	0.89712	1.785000	0.52413	0.260000	0.18958	CAT		0.493	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
RYR1	6261	broad.mit.edu	37	19	38993211	38993211	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:38993211C>T	ENST00000359596.3	+	48	7679	c.7679C>T	c.(7678-7680)cCg>cTg	p.P2560L	RYR1_ENST00000360985.3_Missense_Mutation_p.P2560L|RYR1_ENST00000355481.4_Missense_Mutation_p.P2560L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2560	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P2560L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCGTGCTGCCGCTCATCACC	0.647																																					p.P2560L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7679T	19						.						62.0	47.0	52.0					19																	38993211		2203	4300	6503	43685051	SO:0001583	missense	6261	exon48			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7679C>T	19.37:g.38993211C>T	ENSP00000352608:p.Pro2560Leu		43685051	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270284	0.59540	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93488	-3.23;-3.23;-3.23	3.99	3.99	0.46301	.	0.000000	0.64402	U	0.000002	D	0.96722	0.8930	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.87578	0.998;0.566	D	0.97436	1.0018	10	0.87932	D	0	.	15.367	0.74531	0.0:1.0:0.0:0.0	.	2560;2560	P21817-2;P21817	.;RYR1_HUMAN	L	2560	ENSP00000352608:P2560L;ENSP00000347667:P2560L;ENSP00000354254:P2560L	ENSP00000347667:P2560L	P	+	2	0	RYR1	43685051	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	5.785000	0.68998	2.218000	0.71995	0.313000	0.20887	CCG		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
SUPT5H	6829	broad.mit.edu	37	19	39960839	39960839	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:39960839C>T	ENST00000599117.1	+	18	1822	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	SUPT5H_ENST00000598725.1_Silent_p.F485F|SUPT5H_ENST00000402194.2_Silent_p.F481F|SUPT5H_ENST00000432763.2_Silent_p.F485F|SUPT5H_ENST00000359191.6_Silent_p.F481F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	485	KOW 3.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.F485F(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGGCCGATTCGAGGGCGACA	0.547																																					p.F485F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455T	19						.						154.0	136.0	142.0					19																	39960839		2203	4300	6503	44652679	SO:0001819	synonymous_variant	6829	exon16			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1455C>T	19.37:g.39960839C>T			44652679	NM_003169	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																				0.547	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
DYRK1B	9149	broad.mit.edu	37	19	40318964	40318964	+	Silent	SNP	G	G	A	rs373276735		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:40318964G>A	ENST00000593685.1	-	6	1248	c.780C>T	c.(778-780)ttC>ttT	p.F260F	DYRK1B_ENST00000597639.1_Silent_p.F260F|DYRK1B_ENST00000430012.2_Silent_p.F260F|DYRK1B_ENST00000323039.5_Silent_p.F260F|DYRK1B_ENST00000348817.3_Silent_p.F260F			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.F260F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGGAGCTGCCGAAGTCCACAA	0.627																																					p.F260F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C780T	19						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	47.0	42.0	44.0		780,780,780	-6.6	0.9	19		44	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DYRK1B	NM_004714.1,NM_006483.1,NM_006484.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	260/630,260/590,260/602	40318964	1,13005	2203	4300	6503	45010804	SO:0001819	synonymous_variant	9149	exon6			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.780C>T	19.37:g.40318964G>A			45010804	NM_006483	O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	CCDS12543.1																																																																																				0.627	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	
FBL	2091	broad.mit.edu	37	19	40329725	40329725	+	Missense_Mutation	SNP	C	C	T	rs371072739		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:40329725C>T	ENST00000221801.3	-	5	612	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	167					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G167R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GAGGCAGCCCCGAGGTAGAGA	0.602																																					p.G167R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499A	19						.	C	ARG/GLY	0,4406		0,0,2203	133.0	121.0	125.0		499	5.3	1.0	19		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBL	NM_001436.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	167/322	40329725	1,13005	2203	4300	6503	45021565	SO:0001583	missense	2091	exon5			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.499G>A	19.37:g.40329725C>T	ENSP00000221801:p.Gly167Arg		45021565	NM_001436	B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141279	0.94560	0.0	1.16E-4	ENSG00000105202	ENST00000221801	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94026	0.7297	9	0.87932	D	0	-12.565	16.4518	0.83993	0.0:1.0:0.0:0.0	.	167;106;167	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	R	167	.	ENSP00000221801:G167R	G	-	1	0	FBL	45021565	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	7.197000	0.77814	2.478000	0.83669	0.561000	0.74099	GGG		0.602	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436	
FCGBP	8857	broad.mit.edu	37	19	40380286	40380286	+	Missense_Mutation	SNP	C	C	T	rs374131117		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:40380286C>T	ENST00000221347.6	-	23	11036	c.11029G>A	c.(11029-11031)Gtg>Atg	p.V3677M	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3677	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.V3677M(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCACATACACGCAGGTGCCC	0.652																																					p.V3677M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11029A	19						.	C	MET/VAL	2,1570		1,0,785	64.0	74.0	72.0		11029	1.9	1.0	19		72	0,5482		0,0,2741	no	missense	FCGBP	NM_003890.2	21	1,0,3526	TT,TC,CC		0.0,0.1272,0.0284	probably-damaging	3677/5406	40380286	2,7052	786	2741	3527	45072126	SO:0001583	missense	8857	exon23			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11029G>A	19.37:g.40380286C>T	ENSP00000221347:p.Val3677Met		45072126	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.283549	0.40394	0.001272	0.0	ENSG00000090920	ENST00000221347	T	0.59364	0.27	2.96	1.9	0.25705	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.62270	0.2414	L	0.48362	1.52	0.09310	N	0.999996	D	0.89917	1.0	D	0.68353	0.957	T	0.47636	-0.9102	9	0.33940	T	0.23	.	5.0664	0.14583	0.0:0.6108:0.0:0.3892	.	3677	Q9Y6R7	FCGBP_HUMAN	M	3677	ENSP00000221347:V3677M	ENSP00000221347:V3677M	V	-	1	0	FCGBP	45072126	0.000000	0.05858	0.988000	0.46212	0.653000	0.38743	-0.458000	0.06737	0.563000	0.29222	0.194000	0.17425	GTG		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
GRIK5	2901	broad.mit.edu	37	19	42557824	42557824	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:42557824T>A	ENST00000262895.3	-	10	1198	c.1199A>T	c.(1198-1200)aAt>aTt	p.N400I	GRIK5_ENST00000593562.1_Missense_Mutation_p.N400I|GRIK5_ENST00000301218.4_Missense_Mutation_p.N400I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	400					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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.N400I(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGTGGTGGCATTCATGGCCAG	0.622																																					p.N400I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1199T	19						.						125.0	99.0	107.0					19																	42557824		2203	4300	6503	47249664	SO:0001583	missense	2901	exon10				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1199A>T	19.37:g.42557824T>A	ENSP00000262895:p.Asn400Ile		47249664	NM_002088	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	T	30	5.054509	0.93793	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.16597	2.33;2.33	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	N	0.25890	0.77	0.51482	D	0.999927	P	0.48230	0.907	P	0.44772	0.46	T	0.01316	-1.1387	10	0.87932	D	0	.	14.5977	0.68419	0.0:0.0:0.0:1.0	.	400	Q16478	GRIK5_HUMAN	I	400	ENSP00000262895:N400I;ENSP00000301218:N400I	ENSP00000262895:N400I	N	-	2	0	GRIK5	47249664	1.000000	0.71417	0.936000	0.37596	0.952000	0.60782	7.509000	0.81698	2.088000	0.63022	0.533000	0.62120	AAT		0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		
PSG9	5678	broad.mit.edu	37	19	43766041	43766041	+	Missense_Mutation	SNP	C	C	T	rs147736357	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:43766041C>T	ENST00000270077.3	-	3	776	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PSG9_ENST00000593948.1_Missense_Mutation_p.R227H|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Missense_Mutation_p.R227H	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	227	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R227L(1)|p.R227H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGTCACTGCGACTGGCACT	0.517													C|||	6	0.00119808	0.0008	0.0029	5008	,	,		21432	0.002		0.001	False		,,,				2504	0.0				p.R227H												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G680A	19						.	C	HIS/ARG	1,4405		0,1,2202	201.0	197.0	198.0		680	-0.9	0.0	19	dbSNP_134	198	0,8596		0,0,4298	no	missense	PSG9	NM_002784.3	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	227/427	43766041	1,13001	2203	4298	6501	48457881	SO:0001583	missense	5678	exon3			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.680G>A	19.37:g.43766041C>T	ENSP00000270077:p.Arg227His		48457881	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	N	8.754	0.922042	0.17982	2.27E-4	0.0	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.12672	2.66;2.66	2.12	-0.937	0.10415	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14874	0.0359	M	0.68952	2.095	0.09310	N	1	P;B;B	0.35551	0.509;0.245;0.115	B;B;B	0.40444	0.329;0.12;0.072	T	0.27773	-1.0064	9	0.48119	T	0.1	.	2.1797	0.03871	0.3012:0.4907:0.0:0.2082	.	227;227;227	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	H	227;188;227	ENSP00000270077:R227H;ENSP00000244293:R227H	ENSP00000244293:R227H	R	-	2	0	PSG9	48457881	0.000000	0.05858	0.008000	0.14137	0.113000	0.19764	-1.268000	0.02836	0.008000	0.14787	0.194000	0.17425	CGC		0.517	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
UHRF1	29128	broad.mit.edu	37	19	4944462	4944462	+	RNA	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:4944462G>T	ENST00000592666.1	+	0	1881							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q448H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCCGAGTCCAGGTACCTGCAG	0.662																																					p.Q435H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1305T	19						.						38.0	42.0	41.0					19																	4944462		1952	4150	6102	4895462			29128	exon9			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944462G>T			4895462	NM_001048201	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.646439	0.87958	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.67	4.67	0.58626	SRA-YDG (4);	0.000000	0.85682	D	0.000000	D	0.82797	0.5115	M	0.81682	2.555	.	.	.	D;D	0.89917	0.999;1.0	D;D	0.83275	0.964;0.996	D	0.85576	0.1237	8	0.72032	D	0.01	-19.8428	17.7489	0.88428	0.0:0.0:1.0:0.0	.	448;435	Q2HIX7;Q96T88	.;UHRF1_HUMAN	H	435;50;435;435;448	.	ENSP00000262952:Q435H	Q	+	3	2	UHRF1	4895462	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	9.539000	0.98076	2.428000	0.82296	0.561000	0.74099	CAG		0.662	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201	
SMG9	56006	broad.mit.edu	37	19	44254856	44254856	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:44254856C>A	ENST00000270066.6	-	2	380	c.38G>T	c.(37-39)gGg>gTg	p.G13V	SMG9_ENST00000601170.1_Missense_Mutation_p.G13V	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	13					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)	p.G13V(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CCGCTCTATCCCATAGAGTCC	0.572																																					p.G13V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G38T	19						.						91.0	92.0	91.0					19																	44254856		1928	4112	6040	48946696	SO:0001583	missense	56006	exon2			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.38G>T	19.37:g.44254856C>A	ENSP00000270066:p.Gly13Val		48946696	NM_019108	O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863519	0.91511	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.66187	0.2764	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66292	-0.5960	8	0.48119	T	0.1	-12.5906	17.4554	0.87605	0.0:1.0:0.0:0.0	.	13;13	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	V	13	.	ENSP00000270066:G13V	G	-	2	0	SMG9	48946696	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	6.221000	0.72243	2.724000	0.93272	0.561000	0.74099	GGG		0.572	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108	
ZNF45	7596	broad.mit.edu	37	19	44418917	44418917	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:44418917G>A	ENST00000269973.5	-	10	1761	c.671C>T	c.(670-672)gCa>gTa	p.A224V	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A224V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	224					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A224V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CCTGTAACTTGCATCATTTGT	0.423																																					p.A224V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671T	19						.						153.0	161.0	158.0					19																	44418917		2203	4300	6503	49110757	SO:0001583	missense	7596	exon10			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.671C>T	19.37:g.44418917G>A	ENSP00000269973:p.Ala224Val		49110757	NM_003425	P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837393	0.16891	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.14144	2.53	4.03	-8.06	0.01102	Zinc finger, C2H2 (1);	1.447100	0.05245	U	0.512931	T	0.03053	0.0090	N	0.00783	-1.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42899	-0.9424	10	0.52906	T	0.07	5.7293	1.5287	0.02531	0.4577:0.1677:0.1167:0.2579	.	224	Q02386	ZNF45_HUMAN	V	224	ENSP00000269973:A224V	ENSP00000269973:A224V	A	-	2	0	ZNF45	49110757	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.315000	0.01124	-2.429000	0.00558	-0.379000	0.06801	GCA		0.423	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425	
PVRL2	5819	broad.mit.edu	37	19	45375336	45375336	+	Silent	SNP	G	G	A	rs572960076		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:45375336G>A	ENST00000252483.5	+	3	705	c.705G>A	c.(703-705)acG>acA	p.T235T	PVRL2_ENST00000252485.4_Silent_p.T235T	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	235	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.T235T(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ATGGTGTCACGGTCACCTGCA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20169	0.0		0.0	False		,,,				2504	0.0				p.T235T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G705A	19						.						158.0	118.0	132.0					19																	45375336		2203	4300	6503	50067176	SO:0001819	synonymous_variant	5819	exon3			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.705G>A	19.37:g.45375336G>A			50067176	NM_002856	A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	CCDS42576.1																																																																																				0.612	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	
VASP	7408	broad.mit.edu	37	19	46027893	46027893	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:46027893A>G	ENST00000245932.6	+	11	1378	c.1022A>G	c.(1021-1023)tAc>tGc	p.Y341C		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	341	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)	p.Y341C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TCCAGTGATTACTCGGACCTA	0.572																																					p.Y341C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1022G	19						.						80.0	71.0	74.0					19																	46027893		2203	4300	6503	50719733	SO:0001583	missense	7408	exon11				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.1022A>G	19.37:g.46027893A>G	ENSP00000245932:p.Tyr341Cys		50719733	NM_003370	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.250942	0.22880	.	.	ENSG00000125753	ENST00000245932	T	0.69806	-0.43	5.23	5.23	0.72850	VASP tetramerisation (1);	0.578320	0.17088	N	0.187507	T	0.53899	0.1825	N	0.08118	0	0.24664	N	0.993453	B	0.33826	0.427	B	0.42882	0.401	T	0.55075	-0.8197	10	0.56958	D	0.05	-8.0644	11.4512	0.50154	1.0:0.0:0.0:0.0	.	341	P50552	VASP_HUMAN	C	341	ENSP00000245932:Y341C	ENSP00000245932:Y341C	Y	+	2	0	VASP	50719733	1.000000	0.71417	0.895000	0.35142	0.069000	0.16628	5.210000	0.65214	2.191000	0.70037	0.533000	0.62120	TAC		0.572	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1		
STRN4	29888	broad.mit.edu	37	19	47234095	47234095	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:47234095C>T	ENST00000263280.6	-	6	822	c.773G>A	c.(772-774)gGc>gAc	p.G258D	STRN4_ENST00000391910.3_Missense_Mutation_p.G258D|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.G139D	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	258						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.G258D(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CACTGAGCCGCCCAAGCGCTC	0.597																																					p.G258D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G773A	19						.						191.0	145.0	160.0					19																	47234095		2203	4300	6503	51925935	SO:0001583	missense	29888	exon6			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.773G>A	19.37:g.47234095C>T	ENSP00000263280:p.Gly258Asp		51925935	NM_001039877	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336020	0.41398	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.63417	-0.03;-0.04;0.09	4.93	3.88	0.44766	.	0.193332	0.44483	D	0.000449	T	0.59307	0.2184	L	0.61218	1.895	0.47994	D	0.999566	P;D	0.54047	0.454;0.964	B;B	0.44224	0.287;0.444	T	0.58956	-0.7544	10	0.28530	T	0.3	-8.5471	12.2181	0.54418	0.0:0.8094:0.1906:0.0	.	258;258	F8VYA6;Q9NRL3	.;STRN4_HUMAN	D	258;258;139;139	ENSP00000375777:G258D;ENSP00000263280:G258D;ENSP00000440901:G139D	ENSP00000263280:G258D	G	-	2	0	STRN4	51925935	0.927000	0.31430	0.882000	0.34594	0.420000	0.31355	3.247000	0.51422	1.271000	0.44313	0.511000	0.50034	GGC		0.597	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		
ZC3H4	23211	broad.mit.edu	37	19	47597290	47597290	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:47597290C>T	ENST00000253048.5	-	4	466	c.429G>A	c.(427-429)tcG>tcA	p.S143S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	143							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S143S(2)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGCTGAAATCCGAGTCATCTG	0.577																																					p.S143S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G429A	19						.						100.0	102.0	102.0					19																	47597290		2016	4178	6194	52289130	SO:0001819	synonymous_variant	23211	exon4			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.429G>A	19.37:g.47597290C>T			52289130	NM_015168	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																				0.577	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1		
CABP5	56344	broad.mit.edu	37	19	48542565	48542565	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:48542565C>T	ENST00000293255.2	-	4	378	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.R83H(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AAAGTCTACACGGCCACCCAC	0.537																																					p.R83H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	19						.						146.0	105.0	119.0					19																	48542565		2203	4300	6503	53234377	SO:0001583	missense	56344	exon4			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.248G>A	19.37:g.48542565C>T	ENSP00000293255:p.Arg83His		53234377	NM_019855	A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227909	0.22542	.	.	ENSG00000105507	ENST00000293255	T	0.10005	2.92	4.51	4.51	0.55191	EF-hand-like domain (1);	0.061993	0.64402	D	0.000009	T	0.09024	0.0223	L	0.35723	1.085	0.50467	D	0.999877	B	0.06786	0.001	B	0.04013	0.001	T	0.10567	-1.0624	10	0.40728	T	0.16	-6.2328	9.1879	0.37182	0.0:0.8979:0.0:0.1021	.	83	Q9NP86	CABP5_HUMAN	H	83	ENSP00000293255:R83H	ENSP00000293255:R83H	R	-	2	0	CABP5	53234377	0.118000	0.22208	1.000000	0.80357	0.996000	0.88848	0.479000	0.22228	2.459000	0.83118	0.655000	0.94253	CGT		0.537	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	
CCDC114	93233	broad.mit.edu	37	19	48807027	48807027	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:48807027C>T	ENST00000315396.7	-	8	1439	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	253					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.E46K(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CAGACGCCCTCGGCCACCTCC	0.632																																					p.E253K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757A	19						.						71.0	73.0	72.0					19																	48807027		2203	4300	6503	53498839	SO:0001583	missense	93233	exon8			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.757G>A	19.37:g.48807027C>T	ENSP00000318429:p.Glu253Lys		53498839	NM_144577	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819186	0.32145	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	2.93	0.636	0.17729	.	.	.	.	.	T	0.38108	0.1028	L	0.35723	1.085	0.28482	N	0.914887	D;D;D	0.76494	0.999;0.994;0.988	P;P;B	0.58928	0.848;0.548;0.388	T	0.23511	-1.0186	9	0.52906	T	0.07	-6.3599	4.3615	0.11205	0.0:0.6283:0.2332:0.1385	.	46;253;253	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	253	ENSP00000318429:E253K	ENSP00000318429:E253K	E	-	1	0	CCDC114	53498839	0.001000	0.12720	0.349000	0.25694	0.059000	0.15707	-0.085000	0.11250	0.111000	0.17947	-1.132000	0.01976	GAG		0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577	
GRIN2D	2906	broad.mit.edu	37	19	48925170	48925170	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:48925170C>T	ENST00000263269.3	+	10	2308	c.2220C>T	c.(2218-2220)cgC>cgT	p.R740R		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	740					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.R740R(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCAGCCCCGCGTAGAGGAAG	0.632																																					p.R740R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2220T	19						.						76.0	72.0	73.0					19																	48925170		2203	4300	6503	53616982	SO:0001819	synonymous_variant	2906	exon10			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2220C>T	19.37:g.48925170C>T			53616982	NM_000836		Silent	SNP	ENST00000263269.3	37	CCDS12719.1																																																																																				0.632	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
SULT2B1	6820	broad.mit.edu	37	19	49102458	49102458	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:49102458G>A	ENST00000201586.2	+	7	1071	c.893G>A	c.(892-894)cGc>cAc	p.R298H	SULT2B1_ENST00000323090.4_Missense_Mutation_p.R283H|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	298					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)	p.R298H(1)|p.R283H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CGTGCCTACCGCAAGCAGATG	0.672																																					p.R283H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G848A	19						.						39.0	34.0	36.0					19																	49102458		2199	4298	6497	53794270	SO:0001583	missense	6820	exon6			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.893G>A	19.37:g.49102458G>A	ENSP00000201586:p.Arg298His		53794270	NM_004605	O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038621	0.55003	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	D;D	0.82803	-1.65;-1.65	5.29	-0.598	0.11649	Sulfotransferase domain (1);	0.665201	0.12306	U	0.480648	D	0.82893	0.5136	L	0.56340	1.77	0.09310	N	1	D;D	0.71674	0.996;0.998	P;P	0.57548	0.685;0.823	T	0.71334	-0.4624	10	0.49607	T	0.09	.	5.1162	0.14834	0.3979:0.1405:0.4616:0.0	.	283;298	O00204-2;O00204	.;ST2B1_HUMAN	H	298;283	ENSP00000201586:R298H;ENSP00000312880:R283H	ENSP00000201586:R298H	R	+	2	0	SULT2B1	53794270	0.842000	0.29525	0.000000	0.03702	0.002000	0.02628	1.481000	0.35476	-0.128000	0.11641	-0.794000	0.03295	CGC		0.672	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605	
CA11	770	broad.mit.edu	37	19	49148885	49148885	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:49148885C>G	ENST00000084798.4	-	1	684	c.5G>C	c.(4-6)gGg>gCg	p.G2A	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	2						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.G2A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AGCTGCAGCCCCCATCCCCAG	0.701																																					p.G2A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5C	19						.						13.0	16.0	15.0					19																	49148885		2191	4289	6480	53840697	SO:0001583	missense	770	exon1			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.5G>C	19.37:g.49148885C>G	ENSP00000084798:p.Gly2Ala		53840697	NM_001217	O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404273	0.62288	.	.	ENSG00000063180	ENST00000084798	T	0.72615	-0.67	3.83	1.67	0.24075	.	0.000000	0.42964	D	0.000628	T	0.41166	0.1147	N	0.08118	0	0.23528	N	0.997483	P	0.42409	0.779	B	0.41135	0.348	T	0.45086	-0.9285	10	0.07175	T	0.84	.	4.6372	0.12530	0.388:0.5065:0.0:0.1054	.	2	O75493	CAH11_HUMAN	A	2	ENSP00000084798:G2A	ENSP00000084798:G2A	G	-	2	0	CA11	53840697	0.780000	0.28664	0.793000	0.32043	0.994000	0.84299	0.904000	0.28491	0.574000	0.29417	0.455000	0.32223	GGG		0.701	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217	
SLC17A7	57030	broad.mit.edu	37	19	49936195	49936195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:49936195C>T	ENST00000221485.3	-	8	1061	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SLC17A7_ENST00000600601.1_Missense_Mutation_p.R230H|SLC17A7_ENST00000543531.1_Missense_Mutation_p.R285H	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	297					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.R297H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGTGAAGAAGCGCCGCCAGGG	0.627																																					p.R297H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G890A	19						.						37.0	37.0	37.0					19																	49936195		2203	4300	6503	54628007	SO:0001583	missense	57030	exon8			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.890G>A	19.37:g.49936195C>T	ENSP00000221485:p.Arg297His		54628007	NM_020309	B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965975	0.53507	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59906	0.23;0.23	3.97	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.472817	0.18716	N	0.133155	T	0.38321	0.1036	N	0.16567	0.415	0.36548	D	0.871677	B	0.06786	0.001	B	0.13407	0.009	T	0.41734	-0.9492	10	0.45353	T	0.12	.	7.6955	0.28592	0.0:0.8844:0.0:0.1156	.	297	Q9P2U7	VGLU1_HUMAN	H	297;285	ENSP00000221485:R297H;ENSP00000441767:R285H	ENSP00000221485:R297H	R	-	2	0	SLC17A7	54628007	0.928000	0.31464	1.000000	0.80357	0.991000	0.79684	3.157000	0.50716	2.223000	0.72356	0.491000	0.48974	CGC		0.627	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		
IZUMO2	126123	broad.mit.edu	37	19	50662504	50662504	+	Missense_Mutation	SNP	C	C	T	rs141774263	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:50662504C>T	ENST00000293405.3	-	4	398	c.398G>A	c.(397-399)tGc>tAc	p.C133Y		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	133						integral component of membrane (GO:0016021)		p.C133Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TTTGGGGTTGCAGGCTGCAAG	0.502																																					p.C133Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	19						.						64.0	69.0	68.0					19																	50662504		1900	4122	6022	55354316	SO:0001583	missense	126123	exon4			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.398G>A	19.37:g.50662504C>T	ENSP00000293405:p.Cys133Tyr		55354316	NM_152358	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430854	0.43122	.	.	ENSG00000161652	ENST00000293405	T	0.24538	1.85	3.96	3.96	0.45880	.	0.162165	0.29737	N	0.011330	T	0.37679	0.1012	L	0.32530	0.975	0.35461	D	0.796518	D	0.89917	1.0	D	0.87578	0.998	T	0.47471	-0.9115	10	0.87932	D	0	.	11.7908	0.52068	0.0:1.0:0.0:0.0	.	133	Q6UXV1	IZUM2_HUMAN	Y	133	ENSP00000293405:C133Y	ENSP00000293405:C133Y	C	-	2	0	IZUMO2	55354316	0.708000	0.27876	0.946000	0.38457	0.505000	0.33919	1.898000	0.39809	2.505000	0.84491	0.561000	0.74099	TGC		0.502	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358	
KCNC3	3748	broad.mit.edu	37	19	50826886	50826886	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:50826886G>A	ENST00000477616.1	-	2	1618	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KCNC3_ENST00000376959.2_Missense_Mutation_p.R442C|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	442					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R442C(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GTGCTGGCGCGGAGCGTGTGT	0.642																																					p.R442C	Melanoma(91;1496 2324 50908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1324T	19						.						66.0	66.0	66.0					19																	50826886		2203	4300	6503	55518698	SO:0001583	missense	3748	exon2			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1324C>T	19.37:g.50826886G>A	ENSP00000434241:p.Arg442Cys		55518698	NM_004977		Missense_Mutation	SNP	ENST00000477616.1	37	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	17.36	3.371125	0.61624	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98585	-5.01;-5.01	3.19	2.1	0.27182	Ion transport (1);	0.000000	0.64402	U	0.000003	D	0.98757	0.9582	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98498	1.0613	10	0.87932	D	0	.	7.3491	0.26680	0.0:0.1851:0.6251:0.1898	.	442;442	Q14003;E7ETH1	KCNC3_HUMAN;.	C	442;442;256	ENSP00000366158:R442C;ENSP00000434241:R442C	ENSP00000366158:R442C	R	-	1	0	KCNC3	55518698	1.000000	0.71417	0.753000	0.31225	0.964000	0.63967	4.132000	0.57977	0.656000	0.30886	0.486000	0.48141	CGC		0.642	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977	
POLD1	5424	broad.mit.edu	37	19	50905152	50905152	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:50905152C>A	ENST00000440232.2	+	4	487	c.434C>A	c.(433-435)gCt>gAt	p.A145D	POLD1_ENST00000595904.1_Missense_Mutation_p.A145D|POLD1_ENST00000599857.1_Missense_Mutation_p.A145D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	145			A -> D (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.A145D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CACGGCTTCGCTCCCTACTTC	0.692								DNA polymerases (catalytic subunits)																													p.A145D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C434A	19						.						61.0	63.0	62.0					19																	50905152		2203	4300	6503	55596964	SO:0001583	missense	5424	exon4				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.434C>A	19.37:g.50905152C>A	ENSP00000406046:p.Ala145Asp		55596964	NM_002691	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362157	0.24684	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18502	2.21	4.04	2.96	0.34315	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.321368	0.27056	N	0.021146	T	0.10380	0.0254	N	0.20685	0.6	0.58432	D	0.999998	B;B	0.25609	0.13;0.066	B;B	0.28232	0.087;0.06	T	0.17198	-1.0377	10	0.16896	T	0.51	-8.1225	10.0999	0.42497	0.0:0.8902:0.0:0.1098	.	145;145	E7EVW0;P28340	.;DPOD1_HUMAN	D	145;146	ENSP00000406046:A145D	ENSP00000366129:A146D	A	+	2	0	POLD1	55596964	0.998000	0.40836	0.727000	0.30756	0.895000	0.52256	4.060000	0.57477	0.787000	0.33731	0.455000	0.32223	GCT		0.692	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
GPR32	2854	broad.mit.edu	37	19	51274828	51274828	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:51274828A>G	ENST00000270590.4	+	1	1108	c.971A>G	c.(970-972)cAa>cGa	p.Q324R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	324					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.Q324R(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGAGATTTCCAAGAAAAGTTT	0.567																																					p.Q324R	Esophageal Squamous(113;152 1581 5732 15840 44398)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A971G	19						.						67.0	68.0	68.0					19																	51274828		2203	4300	6503	55966640	SO:0001583	missense	2854	exon1			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.971A>G	19.37:g.51274828A>G	ENSP00000270590:p.Gln324Arg		55966640	NM_001506	Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.037098	0.00406	.	.	ENSG00000142511	ENST00000270590	T	0.20881	2.04	2.71	0.54	0.17163	.	.	.	.	.	T	0.07458	0.0188	N	0.08118	0	0.20638	N	0.99987	B	0.09022	0.002	B	0.06405	0.002	T	0.39881	-0.9592	9	0.02654	T	1	.	5.3255	0.15905	0.7012:0.0:0.2988:0.0	.	324	O75388	GPR32_HUMAN	R	324	ENSP00000270590:Q324R	ENSP00000270590:Q324R	Q	+	2	0	GPR32	55966640	0.845000	0.29573	0.423000	0.26634	0.252000	0.25951	1.423000	0.34837	0.240000	0.21263	0.260000	0.18958	CAA		0.567	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1		
KLK7	5650	broad.mit.edu	37	19	51480887	51480887	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:51480887T>G	ENST00000391807.1	-	6	768	c.667A>C	c.(667-669)Act>Cct	p.T223P	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.T223P|KLK7_ENST00000336317.4_Missense_Mutation_p.T110P|KLK7_ENST00000597707.1_Missense_Mutation_p.T151P	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	223	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T223P(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		CAAGGGAAAGTTCCCCAGGAC	0.522																																					p.T223P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A667C	19						.						148.0	127.0	134.0					19																	51480887		2203	4300	6503	56172699	SO:0001583	missense	5650	exon6			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.667A>C	19.37:g.51480887T>G	ENSP00000375683:p.Thr223Pro		56172699	NM_005046	A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	t	15.86	2.958565	0.53400	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;T	0.87966	-2.32;3.32	5.14	-2.46	0.06461	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.823335	0.09819	U	0.751752	T	0.64940	0.2644	N	0.03115	-0.41	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.52675	-0.8544	10	0.40728	T	0.16	.	0.294	0.00262	0.2766:0.2541:0.1423:0.327	.	223	P49862	KLK7_HUMAN	P	223;223;110	ENSP00000375683:T223P;ENSP00000337540:T110P	ENSP00000304791:T223P	T	-	1	0	KLK7	56172699	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	-0.537000	0.06128	-0.530000	0.06349	0.368000	0.22195	ACT		0.522	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046	
SIGLEC9	27180	broad.mit.edu	37	19	51630383	51630383	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:51630383C>A	ENST00000250360.3	+	4	912	c.845C>A	c.(844-846)cCt>cAt	p.P282H	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.P282H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	282	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.P282H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGCAATCCCCCTGCCAGGCTG	0.612																																					p.P282H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C845A	19						.						98.0	94.0	95.0					19																	51630383		2203	4300	6503	56322195	SO:0001583	missense	27180	exon4			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.845C>A	19.37:g.51630383C>A	ENSP00000250360:p.Pro282His		56322195	NM_001198558	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	12.94	2.089239	0.36855	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.12879	2.64;2.64	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.206681	0.24375	N	0.039063	T	0.40171	0.1106	M	0.92026	3.265	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13710	-1.0499	10	0.87932	D	0	.	7.7535	0.28911	0.0:1.0:0.0:0.0	.	282	Q9Y336	SIGL9_HUMAN	H	282	ENSP00000413861:P282H;ENSP00000250360:P282H	ENSP00000250360:P282H	P	+	2	0	SIGLEC9	56322195	0.141000	0.22595	0.107000	0.21349	0.054000	0.15201	1.626000	0.37039	1.127000	0.42034	0.407000	0.27541	CCT		0.612	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
SIGLEC8	27181	broad.mit.edu	37	19	51958672	51958672	+	Splice_Site	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:51958672C>A	ENST00000321424.3	-	4	1117	c.1051G>T	c.(1051-1053)Ggc>Tgc	p.G351C	SIGLEC8_ENST00000430817.1_Splice_Site_p.G242C|SIGLEC8_ENST00000340550.5_Splice_Site_p.G258C|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	351					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G351C(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTTACCCACCTGTGCCCTCA	0.617																																					p.G351C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1051T	19						.						44.0	43.0	43.0					19																	51958672		2203	4300	6503	56650484	SO:0001630	splice_region_variant	27181	exon4			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1051+1G>T	19.37:g.51958672C>A			56650484	NM_014442	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788133	0.31593	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.66280	1.12;-0.2;0.89	1.51	0.0889	0.14456	.	.	.	.	.	T	0.68805	0.3041	L	0.61036	1.89	0.09310	N	1	D;D;B	0.76494	0.998;0.999;0.073	P;D;B	0.63192	0.818;0.912;0.022	T	0.56366	-0.7991	8	.	.	.	.	6.1074	0.20081	0.0:0.5897:0.4103:0.0	.	242;258;351	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	242;351;258	ENSP00000389142:G242C;ENSP00000321077:G351C;ENSP00000339448:G258C	.	G	-	1	0	SIGLEC8	56650484	.	.	0.001000	0.08648	0.344000	0.29017	.	.	0.100000	0.17581	0.393000	0.25936	GGC		0.617	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	Missense_Mutation
FUT6	2528	broad.mit.edu	37	19	5831897	5831897	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:5831897G>T	ENST00000318336.4	-	3	1876	c.682C>A	c.(682-684)Ctg>Atg	p.L228M	FUT6_ENST00000286955.5_Missense_Mutation_p.L228M|FUT6_ENST00000524754.1_Missense_Mutation_p.L228M|FUT6_ENST00000592563.1_Missense_Mutation_p.L228M|FUT6_ENST00000527106.1_Missense_Mutation_p.L228M	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	228					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.L228M(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CCCTGGGGCAGGGGCTTGTGG	0.612																																					p.L228M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682A	19						.						130.0	123.0	125.0					19																	5831897		2203	4300	6503	5782897	SO:0001583	missense	2528	exon2				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.682C>A	19.37:g.5831897G>T	ENSP00000313398:p.Leu228Met		5782897	NM_001040701	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304701	0.40795	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	3.07	3.07	0.35406	.	0.000000	0.38897	N	0.001533	T	0.51193	0.1660	M	0.83384	2.64	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.42816	-0.9429	10	0.72032	D	0.01	.	12.4152	0.55490	0.0:0.0:1.0:0.0	.	228;228	C9J8A2;P51993	.;FUT6_HUMAN	M	228	ENSP00000431708:L228M;ENSP00000432954:L228M;ENSP00000313398:L228M;ENSP00000286955:L228M	ENSP00000286955:L228M	L	-	1	2	FUT6	5782897	0.247000	0.23920	0.322000	0.25334	0.037000	0.13140	2.017000	0.40981	1.677000	0.50941	0.430000	0.28490	CTG		0.612	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150	
ZNF534	147658	broad.mit.edu	37	19	52937350	52937350	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:52937350G>A	ENST00000332323.6	+	2	219	c.158G>A	c.(157-159)cGt>cAt	p.R53H	ZNF534_ENST00000433050.1_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R53H(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GATAATGTCCGTCCAGAAGCC	0.493																																					p.R53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	19						.						95.0	91.0	92.0					19																	52937350		1568	3582	5150	57629162	SO:0001583	missense	147658	exon2			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.158G>A	19.37:g.52937350G>A	ENSP00000327538:p.Arg53His		57629162	NM_001143939	Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128154	0.01770	.	.	ENSG00000198633	ENST00000332323;ENST00000391790	T	0.00824	5.65	0.843	-1.69	0.08186	Krueppel-associated box (3);	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.04013	0.001	T	0.44605	-0.9317	8	.	.	.	.	3.528	0.07766	0.0:0.2579:0.2154:0.5267	.	53	Q76KX8	ZN534_HUMAN	H	53;52	ENSP00000327538:R53H	.	R	+	2	0	ZNF534	57629162	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.178000	0.16820	-1.433000	0.01977	-1.042000	0.02369	CGT		0.493	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
CACNG8	59283	broad.mit.edu	37	19	54466540	54466540	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:54466540C>T	ENST00000270458.2	+	1	247	c.144C>T	c.(142-144)cgC>cgT	p.R48R		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	48					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R48R(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TCTACACGCGCGCCCTCATCT	0.716																																					p.R48R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C144T	19						.						37.0	35.0	36.0					19																	54466540		2203	4299	6502	59158352	SO:0001819	synonymous_variant	59283	exon1			AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.144C>T	19.37:g.54466540C>T			59158352	NM_031895	Q9BXT0|Q9BY23	Silent	SNP	ENST00000270458.2	37	CCDS33104.1																																																																																				0.716	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3		
LILRB5	10990	broad.mit.edu	37	19	54757921	54757921	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:54757921C>A	ENST00000316219.5	-	8	1421	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D	LILRB5_ENST00000345866.6_Missense_Mutation_p.E339D|LILRB5_ENST00000450632.1_Missense_Mutation_p.E430D|LILRB5_ENST00000449561.2_Missense_Mutation_p.E439D	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	438					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.E430D(1)|p.E438D(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCTGGTCCTCAGGGCCTG	0.711																																					p.E439D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1317T	19						.						21.0	23.0	22.0					19																	54757921		2197	4291	6488	59449733	SO:0001583	missense	10990	exon8			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1314G>T	19.37:g.54757921C>A	ENSP00000320390:p.Glu438Asp		59449733	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	6.047	0.376954	0.11466	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00483	7.17;7.09;7.13;7.11	1.75	-0.641	0.11490	.	.	.	.	.	T	0.00328	0.0010	L	0.54323	1.7	0.09310	N	1	P;B;B;B	0.34864	0.473;0.012;0.151;0.007	B;B;B;B	0.24848	0.056;0.012;0.039;0.003	T	0.39961	-0.9588	9	0.49607	T	0.09	.	4.3615	0.11205	0.0:0.6106:0.0:0.3894	.	430;339;439;438	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	D	438;430;439;339	ENSP00000320390:E438D;ENSP00000414225:E430D;ENSP00000406478:E439D;ENSP00000263430:E339D	ENSP00000320390:E438D	E	-	3	2	LILRB5	59449733	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.417000	0.07088	-0.080000	0.12685	-0.450000	0.05554	GAG		0.711	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
NLRP7	199713	broad.mit.edu	37	19	55451510	55451510	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:55451510A>G	ENST00000590030.1	-	3	717	c.677T>C	c.(676-678)cTg>cCg	p.L226P	NLRP7_ENST00000340844.2_Missense_Mutation_p.L226P|NLRP7_ENST00000446217.1_Missense_Mutation_p.L254P|NLRP7_ENST00000328092.5_Missense_Mutation_p.L226P|NLRP7_ENST00000448121.2_Missense_Mutation_p.L226P|NLRP7_ENST00000592784.1_Missense_Mutation_p.L226P|NLRP7_ENST00000588756.1_Missense_Mutation_p.L226P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	226	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.L226P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTTGGAGATCAGCTCTGCAAA	0.552																																					p.L226P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T677C	19						.						113.0	112.0	112.0					19																	55451510		2203	4300	6503	60143322	SO:0001583	missense	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.677T>C	19.37:g.55451510A>G	ENSP00000465520:p.Leu226Pro		60143322	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974918	0.53720	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	1.88	1.88	0.25563	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.91808	0.7408	M	0.93638	3.44	0.29547	N	0.85166	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.995	D	0.84567	0.0653	9	0.87932	D	0	.	7.7397	0.28835	1.0:0.0:0.0:0.0	.	254;226;226;226	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	P	226;226;226;254	ENSP00000329568:L226P;ENSP00000409137:L226P;ENSP00000339491:L226P;ENSP00000414273:L254P	ENSP00000329568:L226P	L	-	2	0	NLRP7	60143322	0.935000	0.31712	0.021000	0.16686	0.326000	0.28443	6.518000	0.73764	1.123000	0.41961	0.379000	0.24179	CTG		0.552	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
BRSK1	84446	broad.mit.edu	37	19	55800861	55800861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:55800861G>T	ENST00000309383.1	+	4	608	c.331G>T	c.(331-333)Gag>Tag	p.E111*	BRSK1_ENST00000585418.1_Nonsense_Mutation_p.E111*|BRSK1_ENST00000590333.1_Nonsense_Mutation_p.E127*	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.E111*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTGGTTCTGGAGCACGTCTC	0.592																																					p.E111X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G331T	19						.						64.0	56.0	59.0					19																	55800861		2203	4300	6503	60492673	SO:0001587	stop_gained	84446	exon4			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.331G>T	19.37:g.55800861G>T	ENSP00000310649:p.Glu111*		60492673	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Nonsense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	40	8.250941	0.98727	.	.	ENSG00000160469	ENST00000309383	.	.	.	5.46	5.46	0.80206	.	0.065244	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4809	0.90811	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000310649:E111X	E	+	1	0	BRSK1	60492673	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	9.248000	0.95456	2.742000	0.94016	0.550000	0.68814	GAG		0.592	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
USP29	57663	broad.mit.edu	37	19	57640182	57640182	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:57640182T>A	ENST00000254181.4	+	4	593	c.139T>A	c.(139-141)Ttt>Att	p.F47I	USP29_ENST00000598197.1_Missense_Mutation_p.F47I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	47					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.F47I(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTGGAAAATTTATAAGAAT	0.363																																					p.F47I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T139A	19						.						45.0	48.0	47.0					19																	57640182		2203	4300	6503	62331994	SO:0001583	missense	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.139T>A	19.37:g.57640182T>A	ENSP00000254181:p.Phe47Ile		62331994	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	1.443	-0.567125	0.03910	.	.	ENSG00000131864	ENST00000254181	T	0.39787	1.06	2.79	-4.24	0.03777	.	3.800890	0.01128	N	0.005932	T	0.18593	0.0446	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07868	-1.0750	10	0.17832	T	0.49	0.8423	3.3445	0.07131	0.5086:0.234:0.0:0.2573	.	47	Q9HBJ7	UBP29_HUMAN	I	47	ENSP00000254181:F47I	ENSP00000254181:F47I	F	+	1	0	USP29	62331994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.517000	0.02248	-1.331000	0.02252	-1.531000	0.00922	TTT		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
AURKC	6795	broad.mit.edu	37	19	57742667	57742667	+	Silent	SNP	C	C	T	rs375232125		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:57742667C>T	ENST00000302804.7	+	1	237	c.51C>T	c.(49-51)ggC>ggT	p.G17G	AURKC_ENST00000415300.2_Intron|AURKC_ENST00000599062.1_Silent_p.G17G|AURKC_ENST00000598785.1_5'Flank|AURKC_ENST00000448930.1_Intron	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	17					attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.G17G(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AACCTGCAGGCGAAGAGTGTG	0.627																																					p.G17G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	19						.						34.0	27.0	30.0					19																	57742667		2164	4178	6342	62434479	SO:0001819	synonymous_variant	6795	exon1				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.51C>T	19.37:g.57742667C>T			62434479	NM_001015878	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	CCDS33128.1																																																																																				0.627	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
ZNF304	57343	broad.mit.edu	37	19	57867683	57867683	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:57867683A>G	ENST00000282286.5	+	3	619	c.446A>G	c.(445-447)gAt>gGt	p.D149G	ZNF304_ENST00000598744.1_Missense_Mutation_p.D107G|ZNF304_ENST00000443917.2_Missense_Mutation_p.D196G|ZNF304_ENST00000391705.3_Missense_Mutation_p.D149G			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	149					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.D149G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		AGAGGGGATGATGGAGGGGCC	0.498																																					p.D149G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A446G	19						.						73.0	64.0	67.0					19																	57867683		2203	4300	6503	62559495	SO:0001583	missense	57343	exon3			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.446A>G	19.37:g.57867683A>G	ENSP00000282286:p.Asp149Gly		62559495	NM_020657		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	a	9.105	1.005191	0.19199	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15256	2.44;2.44;3.23	3.63	-7.01	0.01594	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.37663	-0.9696	9	0.51188	T	0.08	.	5.6954	0.17853	0.1965:0.5514:0.1496:0.1026	.	149;196	Q9HCX3;E7EQD3	ZN304_HUMAN;.	G	149;149;196	ENSP00000282286:D149G;ENSP00000375586:D149G;ENSP00000401642:D196G	ENSP00000282286:D149G	D	+	2	0	ZNF304	62559495	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-1.642000	0.02006	-1.799000	0.01248	0.375000	0.23000	GAT		0.498	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		
ZNF548	147694	broad.mit.edu	37	19	57910183	57910183	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:57910183C>T	ENST00000366197.5	+	3	778	c.528C>T	c.(526-528)agC>agT	p.S176S	AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Silent_p.S188S	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	176					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.S188S(1)		breast(1)	1		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;0.026)		GCCCTCAAAGCGAGTGGAAGC	0.512																																					p.S176S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C528T	19						.						61.0	62.0	62.0					19																	57910183		2045	4204	6249	62601995	SO:0001819	synonymous_variant	147694	exon3			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.528C>T	19.37:g.57910183C>T			62601995	NM_152909	Q96M05	Silent	SNP	ENST00000366197.5	37	CCDS46209.1																																																																																				0.512	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
ZNF416	55659	broad.mit.edu	37	19	58087212	58087212	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:58087212G>A	ENST00000196489.3	-	3	384	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	54	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.R54R(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GCATCACATCGCGGTACAGGA	0.547																																					p.R54R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	19						.						191.0	169.0	177.0					19																	58087212		2203	4300	6503	62779024	SO:0001819	synonymous_variant	55659	exon3			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.162C>T	19.37:g.58087212G>A			62779024	NM_017879	Q9NWW8	Silent	SNP	ENST00000196489.3	37	CCDS12954.1																																																																																				0.547	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879	
ZNF134	7693	broad.mit.edu	37	19	58132755	58132755	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:58132755C>T	ENST00000396161.5	+	3	1578	c.1268C>T	c.(1267-1269)aCt>aTt	p.T423I		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	423					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.T423I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AAAGTTCACACTGCAGGCAGG	0.453																																					p.T423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1268T	19						.						183.0	191.0	189.0					19																	58132755		2203	4300	6503	62824567	SO:0001583	missense	7693	exon3			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1268C>T	19.37:g.58132755C>T	ENSP00000379464:p.Thr423Ile		62824567	NM_003435	Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796870	0.50208	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.07800	3.16	4.08	-0.607	0.11615	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	M	0.71871	2.18	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.39981	-0.9587	9	0.72032	D	0.01	.	1.592	0.02656	0.1469:0.4366:0.1438:0.2727	.	423	P52741	ZN134_HUMAN	I	490;343;423	ENSP00000379464:T423I	ENSP00000379464:T423I	T	+	2	0	ZNF134	62824567	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	0.795000	0.26972	0.106000	0.17784	0.563000	0.77884	ACT		0.453	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435	
MED16	10025	broad.mit.edu	37	19	885862	885862	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:885862G>T	ENST00000589119.1	-	4	786	c.787C>A	c.(787-789)Ctg>Atg	p.L263M	MED16_ENST00000312090.6_Missense_Mutation_p.L263M|MED16_ENST00000269814.4_Missense_Mutation_p.L263M|MED16_ENST00000395808.3_Missense_Mutation_p.L263M|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.L263M			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	263					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L263M(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		CGCATGAACAGGGAGGGCAGG	0.637																																					p.L263M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C787A	19						.						138.0	122.0	127.0					19																	885862		2203	4300	6503	836862	SO:0001583	missense	10025	exon5			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.787C>A	19.37:g.885862G>T	ENSP00000464810:p.Leu263Met		836862	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614179	0.66672	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000424039	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	3.49	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.147425	0.46758	D	0.000263	T	0.65238	0.2672	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.997;0.998	T	0.66212	-0.5980	10	0.44086	T	0.13	-17.6913	14.1741	0.65529	0.0:0.0:1.0:0.0	.	263;263;263;263	E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	M	263	ENSP00000325612:L263M;ENSP00000308528:L263M;ENSP00000379153:L263M;ENSP00000269814:L263M	ENSP00000269814:L263M	L	-	1	2	MED16	836862	1.000000	0.71417	0.351000	0.25721	0.738000	0.42128	6.985000	0.76193	1.808000	0.52836	0.561000	0.74099	CTG		0.637	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481	
SLC25A23	79085	broad.mit.edu	37	19	6442163	6442163	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:6442163G>A	ENST00000301454.4	-	10	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC25A23_ENST00000601760.1_Intron|SLC25A23_ENST00000414491.2_Silent_p.I171I	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	410					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.I410I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGCCACCCTCGATGGAGGCTG	0.667																																					p.I410I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1230T	19						.						8.0	9.0	8.0					19																	6442163		2187	4267	6454	6393163	SO:0001819	synonymous_variant	79085	exon10			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1230C>T	19.37:g.6442163G>A			6393163	NM_024103	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	CCDS32882.1																																																																																				0.667	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103	
C3	718	broad.mit.edu	37	19	6678194	6678194	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:6678194G>A	ENST00000245907.6	-	40	4911	c.4819C>T	c.(4819-4821)Ctc>Ttc	p.L1607F	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1607	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.L1607F(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCGGAGGAGAGACCCCACATG	0.612																																					p.L1607F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4819T	19						.						70.0	58.0	62.0					19																	6678194		2203	4300	6503	6629194	SO:0001583	missense	718	exon40			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4819C>T	19.37:g.6678194G>A	ENSP00000245907:p.Leu1607Phe		6629194	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303599	0.40795	.	.	ENSG00000125730	ENST00000245907	T	0.22539	1.95	5.24	-10.5	0.00291	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	3.007000	0.01454	U	0.015586	T	0.32346	0.0826	M	0.75264	2.295	0.09310	N	1	D;P	0.53462	0.96;0.846	P;B	0.56278	0.795;0.444	T	0.59762	-0.7393	10	0.52906	T	0.07	.	5.907	0.19006	0.0664:0.3934:0.1302:0.4101	.	1607;1042	P01024;B4E216	CO3_HUMAN;.	F	1607	ENSP00000245907:L1607F	ENSP00000245907:L1607F	L	-	1	0	C3	6629194	0.000000	0.05858	0.012000	0.15200	0.017000	0.09413	-1.048000	0.03517	-1.474000	0.01879	0.454000	0.30748	CTC		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
INSR	3643	broad.mit.edu	37	19	7267509	7267509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:7267509C>T	ENST00000302850.5	-	2	641	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	INSR_ENST00000341500.5_Missense_Mutation_p.V167M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	167	Leu-rich.		V -> L (in IRAN type A). {ECO:0000269|PubMed:10733238}.		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.V167M(1)		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)"""	TTATCCTCCACGGAATCCAGG	0.532																																					p.V167M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499A	19	GRCh37	CM000406	INSR	M		.						149.0	121.0	131.0					19																	7267509		2203	4300	6503	7218509	SO:0001583	missense	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.499G>A	19.37:g.7267509C>T	ENSP00000303830:p.Val167Met		7218509	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275887	0.80580	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82711	-1.64;-1.64	5.1	5.1	0.69264	.	0.000000	0.40302	U	0.001132	D	0.90075	0.6900	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.965;0.999;0.998	P;D;P	0.64877	0.739;0.93;0.853	D	0.90263	0.4302	10	0.46703	T	0.11	.	16.0231	0.80512	0.0:1.0:0.0:0.0	.	158;167;167	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	M	167	ENSP00000303830:V167M;ENSP00000342838:V167M	ENSP00000303830:V167M	V	-	1	0	INSR	7218509	1.000000	0.71417	0.944000	0.38274	0.827000	0.46813	5.652000	0.67959	2.363000	0.80096	0.563000	0.77884	GTG		0.532	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
CLEC4M	10332	broad.mit.edu	37	19	7830886	7830886	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:7830886G>T	ENST00000327325.5	+	4	695	c.577G>T	c.(577-579)Ggt>Tgt	p.G193C	CLEC4M_ENST00000357361.2_Missense_Mutation_p.G193C|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596363.1_Missense_Mutation_p.G165C|CLEC4M_ENST00000359059.5_Missense_Mutation_p.G149C|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.G171C|CLEC4M_ENST00000334806.5_Missense_Mutation_p.G142C|CLEC4M_ENST00000394122.2_Missense_Mutation_p.G181C|CLEC4M_ENST00000596707.1_Missense_Mutation_p.G172C	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	193	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.G193C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGCTGCAGTGGGTGAGTTGCC	0.582																																					p.G142C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424T	19						.						46.0	36.0	40.0					19																	7830886		2012	4147	6159	7736886	SO:0001583	missense	10332	exon4			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.577G>T	19.37:g.7830886G>T	ENSP00000316228:p.Gly193Cys		7736886	NM_001144904	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583969	0.28268	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.23950	1.93;1.88;1.88;1.93;4.05;1.93	1.1	1.1	0.20463	.	.	.	.	.	T	0.41373	0.1156	M	0.63843	1.955	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	0.975;0.998;1.0;0.998;0.999;0.995;0.998;0.999	P;D;D;P;P;D;D;D	0.77557	0.832;0.919;0.99;0.906;0.879;0.926;0.946;0.979	T	0.10543	-1.0625	9	0.52906	T	0.07	.	5.5872	0.17281	0.0:0.0:1.0:0.0	.	142;172;165;193;181;170;165;137	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.	C	193;181;171;142;149;193;137	ENSP00000316228:G193C;ENSP00000377680:G181C;ENSP00000248228:G171C;ENSP00000335228:G142C;ENSP00000351954:G149C;ENSP00000349924:G193C	ENSP00000248228:G171C	G	+	1	0	CLEC4M	7736886	0.014000	0.17966	0.008000	0.14137	0.074000	0.17049	0.752000	0.26362	0.903000	0.36546	0.430000	0.28490	GGT		0.582	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
ELAVL1	1994	broad.mit.edu	37	19	8028533	8028533	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:8028533T>C	ENST00000407627.2	-	6	944	c.815A>G	c.(814-816)aAt>aGt	p.N272S	ELAVL1_ENST00000351593.5_Missense_Mutation_p.N299S|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Missense_Mutation_p.N272S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	272	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.N272S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CACTTTCACATTGGTGACGGC	0.547																																					p.N272S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A815G	19						.						141.0	122.0	128.0					19																	8028533		2203	4300	6503	7934533	SO:0001583	missense	1994	exon6			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.815A>G	19.37:g.8028533T>C	ENSP00000385269:p.Asn272Ser		7934533	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	T	8.274	0.814013	0.16537	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.13901	2.55;2.55	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.01091	-1.02	0.58432	D	0.999999	P	0.35714	0.517	B	0.42916	0.402	T	0.39440	-0.9614	10	0.02654	T	1	.	14.3758	0.66874	0.0:0.0:0.0:1.0	.	272	Q15717	ELAV1_HUMAN	S	272;299	ENSP00000385269:N272S;ENSP00000264073:N299S	ENSP00000264073:N299S	N	-	2	0	ELAVL1	7934533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.279000	0.76181	0.533000	0.62120	AAT		0.547	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419	
MUC16	94025	broad.mit.edu	37	19	9059163	9059163	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:9059163T>C	ENST00000397910.4	-	3	28486	c.28283A>G	c.(28282-28284)gAa>gGa	p.E9428G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9430	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.E9428G(1)|p.E5061G(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						GCTGTTTTTTTCCACAGACAG	0.507																																					p.E9428G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A28283G	19						.						107.0	107.0	107.0					19																	9059163		2015	4182	6197	8920163	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.28283A>G	19.37:g.9059163T>C	ENSP00000381008:p.Glu9428Gly		8920163	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.102	0.204545	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.30981	1.51	2.14	1.11	0.20524	.	.	.	.	.	T	0.19046	0.0457	L	0.27053	0.805	.	.	.	B	0.18968	0.032	B	0.20184	0.028	T	0.20174	-1.0283	8	0.87932	D	0	.	3.9434	0.09338	0.0:0.1861:0.0:0.8139	.	9428	B5ME49	.	G	9428	ENSP00000381008:E9428G	ENSP00000381008:E9428G	E	-	2	0	MUC16	8920163	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.486000	0.06513	0.283000	0.22279	0.255000	0.18592	GAA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9061421	9061421	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:9061421T>C	ENST00000397910.4	-	3	26228	c.26025A>G	c.(26023-26025)ccA>ccG	p.P8675P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8677	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.P8675P(2)|p.P4308P(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						TGGTAGCCATTGGAGATGTGG	0.463																																					p.P8675P												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A26025G	19						.						107.0	98.0	101.0					19																	9061421		1923	4140	6063	8922421	SO:0001819	synonymous_variant	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.26025A>G	19.37:g.9061421T>C			8922421	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9063557	9063557	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:9063557G>T	ENST00000397910.4	-	3	24092	c.23889C>A	c.(23887-23889)ccC>ccA	p.P7963P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7965	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.P7963P(2)|p.P3596P(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						TTTCCAGAAGGGGAGGGCTCA	0.458																																					p.P7963P												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C23889A	19						.						107.0	102.0	104.0					19																	9063557		1967	4144	6111	8924557	SO:0001819	synonymous_variant	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.23889C>A	19.37:g.9063557G>T			8924557	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9074664	9074664	+	Missense_Mutation	SNP	G	G	T	rs554809960	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:9074664G>T	ENST00000397910.4	-	3	12985	c.12782C>A	c.(12781-12783)cCt>cAt	p.P4261H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4263	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.P4261H(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						GCCTGGGATAGGAGAATATTC	0.473																																					p.P4261H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C12782A	19						.						128.0	127.0	127.0					19																	9074664		2015	4162	6177	8935664	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.12782C>A	19.37:g.9074664G>T	ENSP00000381008:p.Pro4261His		8935664	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.346	-0.350053	0.05173	.	.	ENSG00000181143	ENST00000397910	T	0.21543	2.0	1.12	1.12	0.20585	.	.	.	.	.	T	0.13670	0.0331	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.50049	0.629	T	0.15578	-1.0432	8	0.87932	D	0	.	5.5856	0.17274	0.0:0.0:1.0:0.0	.	4261	B5ME49	.	H	4261	ENSP00000381008:P4261H	ENSP00000381008:P4261H	P	-	2	0	MUC16	8935664	0.001000	0.12720	0.001000	0.08648	0.050000	0.14768	0.496000	0.22499	0.911000	0.36747	0.205000	0.17691	CCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF317	57693	broad.mit.edu	37	19	9271707	9271707	+	Silent	SNP	C	C	A	rs149506507	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:9271707C>A	ENST00000247956.6	+	7	1691	c.1386C>A	c.(1384-1386)acC>acA	p.T462T	ZNF317_ENST00000360385.3_Silent_p.T430T	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T462T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAAACCTCACCGCACACAGGA	0.542																																					p.T430T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1290A	19						.						59.0	54.0	56.0					19																	9271707		2203	4300	6503	9132707	SO:0001819	synonymous_variant	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.1386C>A	19.37:g.9271707C>A			9132707	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	CCDS12210.1																																																																																				0.542	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
ZNF559	84527	broad.mit.edu	37	19	9453515	9453515	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:9453515G>T	ENST00000393883.2	+	6	2036	c.1388G>T	c.(1387-1389)aGg>aTg	p.R463M	ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R527M|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.R463M|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R383M	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	463					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.R463M(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ACAGGGGAGAGGCCATATAAA	0.448																																					p.R463M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1388T	19						.						72.0	64.0	67.0					19																	9453515		2203	4300	6503	9314515	SO:0001583	missense	84527	exon6			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1388G>T	19.37:g.9453515G>T	ENSP00000377461:p.Arg463Met		9314515	NM_032497	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922915	0.18056	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.20332	2.08;2.08	2.22	-1.21	0.09524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37265	0.0997	M	0.83774	2.66	0.20074	N	0.999936	P;P;P	0.52170	0.541;0.951;0.527	B;P;P	0.56163	0.04;0.793;0.529	T	0.22173	-1.0224	9	0.87932	D	0	.	6.6388	0.22897	0.5988:0.0:0.4012:0.0	.	463;463;383	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	M	463;383;463	ENSP00000442832:R383M;ENSP00000377461:R463M	ENSP00000325393:R463M	R	+	2	0	ZNF559	9314515	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	-0.168000	0.09925	-0.421000	0.07416	-1.786000	0.00637	AGG		0.448	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
ICAM1	3383	broad.mit.edu	37	19	10395602	10395602	+	Frame_Shift_Del	DEL	G	G	-	rs374722531		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:10395602delG	ENST00000264832.3	+	6	1649	c.1324delG	c.(1324-1326)gggfs	p.G442fs	ICAM1_ENST00000423829.2_Frame_Shift_Del_p.G220fs|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	442	Ig-like C2-type 5.				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.E443fs*3(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)	ACTGCCCATCGGGGAATCAGT	0.577																																					p.G442fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1324delG	19						.						60.0	58.0	59.0					19																	10395602		2203	4300	6503	10256602	SO:0001589	frameshift_variant	3383	exon6				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.1324delG	19.37:g.10395602delG	ENSP00000264832:p.Gly442fs		10256602	NM_000201	B2R6M3|Q5NKV7|Q96B50	Frame_Shift_Del	DEL	ENST00000264832.3	37	CCDS12231.1																																																																																				0.577	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		
BRD4	23476	broad.mit.edu	37	19	15353819	15353819	+	Frame_Shift_Del	DEL	G	G	-	rs577673376	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:15353819delG	ENST00000263377.2	-	14	3282	c.3061delC	c.(3061-3063)catfs	p.H1021fs		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1021					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.H1021fs*47(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGGGCGGATGGGGGGGCTGC	0.692			T	C15orf55	lethal midline carcinoma of young people																																p.H1021fs			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3061delC	19						.						6.0	6.0	6.0					19																	15353819		2076	4124	6200	15214819	SO:0001589	frameshift_variant	23476	exon14			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3061delC	19.37:g.15353819delG	ENSP00000263377:p.His1021fs		15214819	NM_058243	O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	CCDS12328.1																																																																																				0.692	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	
ADM5	199800	broad.mit.edu	37	19	50193734	50193734	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:50193734delC	ENST00000420022.3	+	2	1620	c.446delC	c.(445-447)tccfs	p.S149fs	CPT1C_ENST00000323446.5_5'Flank|CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000354199.5_5'Flank|CPT1C_ENST00000392518.4_5'Flank|CPT1C_ENST00000405931.2_5'Flank|CPT1C_ENST00000598293.1_5'Flank	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)	149						extracellular region (GO:0005576)		p.P150fs*>4(1)									CCCAGTCCCTCCCCGGGCTGC	0.562																																					p.S149fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.446delC	19						.						26.0	30.0	29.0					19																	50193734		1351	2755	4106	54885546	SO:0001589	frameshift_variant	199800	exon2			BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 76"", ""adrenomedullin 5 homolog (pig)"""	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6		ENST00000420022.3:c.446delC	19.37:g.50193734delC	ENSP00000393631:p.Ser149fs		54885546	NM_001101340		Frame_Shift_Del	DEL	ENST00000420022.3	37	CCDS46146.1																																																																																				0.562	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340	
ZSCAN1	284312	broad.mit.edu	37	19	58565162	58565162	+	Missense_Mutation	SNP	G	G	A	rs141134066		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:58565162G>A	ENST00000282326.1	+	6	1217	c.970G>A	c.(970-972)Gag>Aag	p.E324K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	324					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)|transcription coactivator activity (GO:0003713)	p.E324K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCGTGCCCCGAGTGTGGCAA	0.627																																					p.E324K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	19						.	G	LYS/GLU	0,4406		0,0,2203	69.0	61.0	64.0		970	1.2	0.0	19	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZSCAN1	NM_182572.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	324/409	58565162	1,13005	2203	4300	6503	63256974	SO:0001583	missense	284312	exon6			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.970G>A	19.37:g.58565162G>A	ENSP00000282326:p.Glu324Lys		63256974	NM_182572	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797431	0.50208	0.0	1.16E-4	ENSG00000152467	ENST00000282326	T	0.16597	2.33	1.22	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17534	0.0421	N	0.25094	0.71	0.58432	D	0.999997	D	0.65815	0.995	P	0.55345	0.774	T	0.04621	-1.0938	9	0.51188	T	0.08	.	8.3292	0.32175	0.0:0.0:1.0:0.0	.	324	Q8NBB4	ZSCA1_HUMAN	K	324	ENSP00000282326:E324K	ENSP00000282326:E324K	E	+	1	0	ZSCAN1	63256974	0.653000	0.27358	0.045000	0.18777	0.344000	0.29017	0.651000	0.24873	0.965000	0.38133	0.313000	0.20887	GAG		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
ZSCAN18	65982	broad.mit.edu	37	19	58596656	58596656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:58596656delG	ENST00000240727.6	-	7	1328	c.929delC	c.(928-930)cctfs	p.P310fs	ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.P174fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.P366fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.P310fs	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	310					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.P310fs*119(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCGTCCCCAGGGGGCGCCTC	0.746																																					p.P366fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1097delC	19						.						7.0	10.0	9.0					19																	58596656		1837	3758	5595	63288468	SO:0001589	frameshift_variant	65982	exon7			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.929delC	19.37:g.58596656delG	ENSP00000240727:p.Pro310fs		63288468	NM_001145542	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Frame_Shift_Del	DEL	ENST00000240727.6	37	CCDS12971.1																																																																																				0.746	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926	
PNPLA6	10908	broad.mit.edu	37	19	7625960	7625960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr19:7625960delC	ENST00000221249.6	+	33	4194	c.3763delC	c.(3763-3765)cccfs	p.P1256fs	PNPLA6_ENST00000545201.2_Frame_Shift_Del_p.P1229fs|PNPLA6_ENST00000450331.3_Frame_Shift_Del_p.P1256fs|PNPLA6_ENST00000414982.3_Frame_Shift_Del_p.P1304fs|PNPLA6_ENST00000600737.1_Frame_Shift_Del_p.P1294fs	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1295					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.T1257fs*17(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						CCGGATTGAGCCCCCCACGAG	0.642																																					p.P1303fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3907delC	19						.						33.0	32.0	32.0					19																	7625960		2203	4300	6503	7531960	SO:0001589	frameshift_variant	10908	exon32			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.3763delC	19.37:g.7625960delC	ENSP00000221249:p.Pro1256fs		7531960	NM_001166111	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Frame_Shift_Del	DEL	ENST00000221249.6	37	CCDS32891.1																																																																																				0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
SASS6	163786	broad.mit.edu	37	1	100551125	100551125	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:100551125G>A	ENST00000287482.5	-	16	1974	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	SASS6_ENST00000535161.1_Missense_Mutation_p.R445C|SASS6_ENST00000462159.1_5'UTR|RP4-714D9.2_ENST00000432294.1_RNA	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	612					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.R612C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTGAGTCCGCGTAAAGGAATG	0.323																																					p.R612C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1834T	1						.						146.0	144.0	145.0					1																	100551125		2203	4300	6503	100323713	SO:0001583	missense	163786	exon16			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1834C>T	1.37:g.100551125G>A	ENSP00000287482:p.Arg612Cys		100323713	NM_194292	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629981	0.87660	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.29142	1.58;1.58	5.45	5.45	0.79879	.	0.208574	0.42053	D	0.000776	T	0.46698	0.1406	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.46442	-0.9191	10	0.87932	D	0	-10.0868	19.2911	0.94100	0.0:0.0:1.0:0.0	.	612	Q6UVJ0	SAS6_HUMAN	C	612;585;445	ENSP00000287482:R612C;ENSP00000440169:R445C	ENSP00000287482:R612C	R	-	1	0	SASS6	100323713	1.000000	0.71417	0.992000	0.48379	0.890000	0.51754	5.655000	0.67981	2.571000	0.86741	0.650000	0.86243	CGC		0.323	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292	
S1PR1	1901	broad.mit.edu	37	1	101705325	101705325	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:101705325T>C	ENST00000305352.6	+	2	1160	c.785T>C	c.(784-786)cTg>cCg	p.L262P		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	262					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.L262P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ATTATCGTCCTGAGCGTCTTC	0.592																																					p.L262P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T785C	1						.						105.0	105.0	105.0					1																	101705325		2203	4300	6503	101477913	SO:0001583	missense	1901	exon2			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.785T>C	1.37:g.101705325T>C	ENSP00000305416:p.Leu262Pro		101477913	NM_001400	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032361	0.75504	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.75367	-0.93	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.87834	0.6277	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91259	0.5035	10	0.87932	D	0	.	15.1582	0.72761	0.0:0.0:0.0:1.0	.	262	P21453	S1PR1_HUMAN	P	262	ENSP00000305416:L262P	ENSP00000305416:L262P	L	+	2	0	S1PR1	101477913	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	1.974000	0.57490	0.369000	0.22263	CTG		0.592	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400	
COL11A1	1301	broad.mit.edu	37	1	103544235	103544235	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:103544235G>C	ENST00000370096.3	-	3	779	c.467C>G	c.(466-468)aCt>aGt	p.T156S	COL11A1_ENST00000353414.4_Missense_Mutation_p.T156S|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156S|COL11A1_ENST00000358392.2_Missense_Mutation_p.T156S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	156	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.T156I(2)|p.T156S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGTTAACAGTTCTGAAGAG	0.368																																					p.T156S												.	.	3	Substitution - Missense(3)	prostate(2)|large_intestine(1)	c.C467G	1						.						81.0	86.0	84.0					1																	103544235		2203	4300	6503	103316823	SO:0001583	missense	1301	exon3			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.467C>G	1.37:g.103544235G>C	ENSP00000359114:p.Thr156Ser		103316823	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685421	0.47991	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.01933	4.55;4.55;4.55;4.55;4.55;4.55	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.181585	0.49305	D	0.000160	T	0.00875	0.0029	N	0.05383	-0.06	0.42444	D	0.992727	B;B;B;B	0.16603	0.003;0.004;0.018;0.012	B;B;B;B	0.15052	0.008;0.005;0.007;0.012	T	0.63646	-0.6590	10	0.33940	T	0.23	.	19.4381	0.94806	0.0:0.0:1.0:0.0	.	156;156;156;156	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	156;156;156;156;156;83	ENSP00000359114:T156S;ENSP00000351163:T156S;ENSP00000302551:T156S;ENSP00000426533:T156S;ENSP00000408640:T156S;ENSP00000410177:T83S	ENSP00000302551:T156S	T	-	2	0	COL11A1	103316823	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.812000	0.55628	2.602000	0.87976	0.650000	0.86243	ACT		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
KIAA1324	57535	broad.mit.edu	37	1	109740697	109740697	+	Splice_Site	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:109740697G>T	ENST00000369939.3	+	17	2582	c.2399G>T	c.(2398-2400)aGg>aTg	p.R800M	KIAA1324_ENST00000529753.1_Splice_Site_p.R713M|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	800					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.R800M(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)		TTCTTTTATAGGTGAAGATGA	0.493																																					p.R800M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2399T	1						.						74.0	72.0	73.0					1																	109740697		2203	4300	6503	109542220	SO:0001630	splice_region_variant	57535	exon17			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.2399+1G>T	1.37:g.109740697G>T			109542220	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841641	0.91197	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.03982	3.74;3.74;3.74	5.69	5.69	0.88448	Mannose-6-phosphate receptor, binding (1);	0.087086	0.85682	D	0.000000	T	0.12944	0.0314	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.976;0.974;0.976;0.976	T	0.00294	-1.1840	10	0.62326	D	0.03	-21.0915	16.7322	0.85438	0.0:0.0:1.0:0.0	.	800;713;800;800	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	M	800;750;713	ENSP00000358955:R800M;ENSP00000393964:R750M;ENSP00000434595:R713M	ENSP00000358955:R800M	R	+	2	0	KIAA1324	109542220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.211000	0.65219	2.699000	0.92147	0.655000	0.94253	AGG		0.493	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	Missense_Mutation
PSMA5	5686	broad.mit.edu	37	1	109955744	109955744	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:109955744A>G	ENST00000271308.4	-	4	257	c.237T>C	c.(235-237)agT>agC	p.S79S	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Silent_p.S21S	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	79					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)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.S79S(1)		kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CAATTAGCCCACTCATGGCAC	0.423																																					p.S21S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T63C	1						.						127.0	120.0	122.0					1																	109955744		2203	4300	6503	109757267	SO:0001819	synonymous_variant	5686	exon4			X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.237T>C	1.37:g.109955744A>G			109757267	NM_001199774	B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Silent	SNP	ENST00000271308.4	37	CCDS799.1																																																																																				0.423	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790	
GSTM4	2948	broad.mit.edu	37	1	110201661	110201661	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:110201661C>A	ENST00000369836.4	+	7	805	c.496C>A	c.(496-498)Ctc>Atc	p.L166I	GSTM4_ENST00000369833.1_Missense_Mutation_p.L125I|GSTM4_ENST00000326729.5_Missense_Mutation_p.L166I|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.L105I	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	166	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)	p.L125I(1)|p.L166I(1)		endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TGTCCTTGACCTCCACCGTAT	0.483																																					p.L166I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C496A	1						.						537.0	498.0	511.0					1																	110201661		2203	4300	6503	110003184	SO:0001583	missense	2948	exon7			M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.496C>A	1.37:g.110201661C>A	ENSP00000358851:p.Leu166Ile		110003184	NM_147148	A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	37	CCDS807.1	.	.	.	.	.	.	.	.	.	.	C	7.794	0.712148	0.15306	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729;ENST00000369833	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	4.01	-2.38	0.06622	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.283377	0.28983	N	0.013508	T	0.00524	0.0017	N	0.16166	0.38	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.19666	0.026;0.006;0.01	T	0.44034	-0.9354	10	0.48119	T	0.1	-12.0343	9.5157	0.39104	0.6563:0.2143:0.1294:0.0	.	105;166;166	Q4JNT8;Q03013-2;Q03013	.;.;GSTM4_HUMAN	I	166;105;166;125	ENSP00000358851:L166I;ENSP00000336744:L105I;ENSP00000316471:L166I;ENSP00000358848:L125I	ENSP00000316471:L166I	L	+	1	0	GSTM4	110003184	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.029000	0.13666	-0.529000	0.06358	-0.676000	0.03789	CTC		0.483	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850	
MTOR	2475	broad.mit.edu	37	1	11264627	11264627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:11264627G>A	ENST00000361445.4	-	26	4011	c.3935C>T	c.(3934-3936)cCg>cTg	p.P1312L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1312					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|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.P1312L(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCTGGCCATCGGGTTGTAGGC	0.527																																					p.P1312L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3935T	1						.						59.0	61.0	60.0					1																	11264627		2203	4300	6503	11187214	SO:0001583	missense	2475	exon26			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3935C>T	1.37:g.11264627G>A	ENSP00000354558:p.Pro1312Leu		11187214	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331307	0.81690	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.67171	-0.25	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83954	0.5366	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.84686	0.0720	10	0.59425	D	0.04	-15.9588	20.0407	0.97588	0.0:0.0:1.0:0.0	.	1312	P42345	MTOR_HUMAN	L	1312	ENSP00000354558:P1312L	ENSP00000354558:P1312L	P	-	2	0	MTOR	11187214	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	9.373000	0.97168	2.746000	0.94184	0.561000	0.74099	CCG		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
OVGP1	5016	broad.mit.edu	37	1	111966276	111966276	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:111966276A>G	ENST00000369732.3	-	5	427	c.372T>C	c.(370-372)gtT>gtC	p.V124V	OVGP1_ENST00000540696.1_Silent_p.V64V|OVGP1_ENST00000481495.1_5'Flank	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	124					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.V124V(1)|p.V188V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GAAGGGATATAACTGAAGCAA	0.448																																					p.V124V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T372C	1						.						127.0	110.0	116.0					1																	111966276		2203	4300	6503	111767799	SO:0001819	synonymous_variant	5016	exon5			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.372T>C	1.37:g.111966276A>G			111767799	NM_002557	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																				0.448	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
ST7L	54879	broad.mit.edu	37	1	113140607	113140607	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:113140607C>T	ENST00000358039.4	-	5	912	c.608G>A	c.(607-609)cGt>cAt	p.R203H	ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369669.1_Missense_Mutation_p.R20H|ST7L_ENST00000544629.1_Intron|ST7L_ENST00000543570.1_Missense_Mutation_p.R186H|ST7L_ENST00000360743.4_Missense_Mutation_p.R203H|ST7L_ENST00000369666.1_Missense_Mutation_p.R186H|ST7L_ENST00000490067.1_Missense_Mutation_p.R186H|ST7L_ENST00000538187.1_Missense_Mutation_p.R147H|ST7L_ENST00000369668.2_Missense_Mutation_p.R203H|ST7L_ENST00000343210.7_Missense_Mutation_p.R203H	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	203					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)		p.R203H(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTGAAGGACGTAAAAAATC	0.358																																					p.R203H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	1						.						155.0	147.0	149.0					1																	113140607		2203	4300	6503	112942130	SO:0001583	missense	54879	exon5			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.608G>A	1.37:g.113140607C>T	ENSP00000350734:p.Arg203His		112942130	NM_138728	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.182440|4.182440	0.78677|0.78677	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665;ENST00000369664|ENST00000418497	T;T;T;T;T;T;T;T;T;T|.	0.22134|.	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70824|0.70824	0.3268|0.3268	M|M	0.71296|0.71296	2.17|2.17	0.80722|0.80722	D|D	1|1	P;D;B;B;B;B;B|.	0.89917|.	0.786;1.0;0.187;0.187;0.187;0.325;0.224|.	P;D;B;B;B;B;B|.	0.91635|.	0.46;0.999;0.071;0.071;0.105;0.071;0.117|.	T|T	0.69101|0.69101	-0.5234|-0.5234	10|5	0.59425|.	D|.	0.04|.	-9.5617|-9.5617	19.109|19.109	0.93309|0.93309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	186;147;203;186;186;203;203|.	B7Z8V6;B7Z7D4;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4|.	.;.;.;.;.;.;ST7L_HUMAN|.	H|I	203;203;81;20;186;203;203;186;147;186;81;147|75	ENSP00000350734:R203H;ENSP00000353972:R203H;ENSP00000358683:R20H;ENSP00000417140:R186H;ENSP00000358682:R203H;ENSP00000345312:R203H;ENSP00000358680:R186H;ENSP00000444021:R147H;ENSP00000444088:R186H;ENSP00000358678:R147H|.	ENSP00000345312:R203H|.	R|V	-|-	2|1	0|0	ST7L|ST7L	112942130|112942130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.037000|6.037000	0.70956|0.70956	2.613000|2.613000	0.88420|0.88420	0.467000|0.467000	0.42956|0.42956	CGT|GTC		0.358	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3		
HIPK1	204851	broad.mit.edu	37	1	114499798	114499798	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:114499798T>C	ENST00000369558.1	+	7	1877	c.1645T>C	c.(1645-1647)Tat>Cat	p.Y549H	HIPK1_ENST00000369553.1_Missense_Mutation_p.Y155H|HIPK1_ENST00000406344.1_Missense_Mutation_p.Y155H|HIPK1_ENST00000369561.4_Missense_Mutation_p.Y549H|HIPK1_ENST00000426820.2_Missense_Mutation_p.Y549H|HIPK1_ENST00000369555.2_Missense_Mutation_p.Y549H|HIPK1_ENST00000369559.4_Missense_Mutation_p.Y549H|HIPK1_ENST00000369554.2_Missense_Mutation_p.Y549H|HIPK1_ENST00000340480.4_Missense_Mutation_p.Y175H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	549					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.Y549H(1)		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)		GGTTCACATGTATGATACAGT	0.388																																					p.Y175H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T523C	1						.						153.0	131.0	139.0					1																	114499798		2203	4300	6503	114301321	SO:0001583	missense	204851	exon6			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.1645T>C	1.37:g.114499798T>C	ENSP00000358571:p.Tyr549His		114301321	NM_198269	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953908	0.73902	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.72;0.74;0.69;0.69;0.74;0.79;3.78;1.85;1.85	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000005	T	0.53610	0.1807	L	0.57536	1.79	0.58432	D	0.999999	P;D;D	0.69078	0.925;0.99;0.997	P;P;D	0.78314	0.561;0.723;0.991	T	0.47799	-0.9089	10	0.22109	T	0.4	.	15.4963	0.75653	0.0:0.0:0.0:1.0	.	155;549;549	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	H	620;549;549;549;549;549;549;175;155;155	ENSP00000407442:Y620H;ENSP00000358572:Y549H;ENSP00000409673:Y549H;ENSP00000358567:Y549H;ENSP00000358568:Y549H;ENSP00000358571:Y549H;ENSP00000358574:Y549H;ENSP00000340956:Y175H;ENSP00000358566:Y155H;ENSP00000384960:Y155H	ENSP00000340956:Y175H	Y	+	1	0	HIPK1	114301321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	2.307000	0.77673	0.528000	0.53228	TAT		0.388	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
TRIM45	80263	broad.mit.edu	37	1	117663416	117663416	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:117663416G>A	ENST00000256649.4	-	1	934	c.408C>T	c.(406-408)gaC>gaT	p.D136D	TRIM45_ENST00000369464.3_Silent_p.D136D|TRIM45_ENST00000369461.3_Silent_p.D79D	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	136					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D136D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CGTTGCACAGGTCACACACCA	0.557																																					p.D136D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	1						.						99.0	86.0	90.0					1																	117663416		2203	4300	6503	117464939	SO:0001819	synonymous_variant	80263	exon1				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.408C>T	1.37:g.117663416G>A			117464939	NM_001145635	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	CCDS893.1																																																																																				0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188	
TNFRSF8	943	broad.mit.edu	37	1	12164454	12164454	+	Missense_Mutation	SNP	C	C	T	rs375945555	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:12164454C>T	ENST00000263932.2	+	4	509	c.287C>T	c.(286-288)aCg>aTg	p.T96M	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	96					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.T96M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GTGGAGAAGACGCCGTGTGCA	0.582													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16881	0.0		0.0	False		,,,				2504	0.0				p.T96M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287T	1						.	C	MET/THR	1,4405		0,1,2202	140.0	110.0	120.0		287	-9.8	0.0	1		120	0,8600		0,0,4300	no	missense	TNFRSF8	NM_001243.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	96/596	12164454	1,13005	2203	4300	6503	12087041	SO:0001583	missense	943	exon4			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.287C>T	1.37:g.12164454C>T	ENSP00000263932:p.Thr96Met		12087041	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	0.422	-0.907957	0.02434	2.27E-4	0.0	ENSG00000120949	ENST00000263932	D	0.91464	-2.85	4.92	-9.84	0.00479	TNFR/CD27/30/40/95 cysteine-rich region (4);	2.809880	0.01125	N	0.005873	D	0.82875	0.5132	L	0.34521	1.04	0.09310	N	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.70128	-0.4957	10	0.52906	T	0.07	0.0549	6.7284	0.23369	0.0716:0.4849:0.0833:0.3602	.	96	P28908	TNR8_HUMAN	M	96	ENSP00000263932:T96M	ENSP00000263932:T96M	T	+	2	0	TNFRSF8	12087041	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-3.293000	0.00523	-4.282000	0.00059	-2.517000	0.00185	ACG		0.582	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
VPS13D	55187	broad.mit.edu	37	1	12316454	12316454	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:12316454C>T	ENST00000358136.3	+	8	864	c.734C>T	c.(733-735)tCt>tTt	p.S245F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S245F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.S245F(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)		GTGTTTGCATCTGCTCTTTTG	0.537																																					p.S245F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C734T	1						.						184.0	170.0	175.0					1																	12316454		2203	4300	6503	12239041	SO:0001583	missense	55187	exon8			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.734C>T	1.37:g.12316454C>T	ENSP00000350854:p.Ser245Phe		12239041	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014305	0.75161	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.94	5.94	0.96194	.	0.056427	0.85682	D	0.000000	T	0.50803	0.1637	L	0.56769	1.78	0.80722	D	1	P;P	0.49090	0.919;0.868	P;B	0.46718	0.525;0.325	T	0.52495	-0.8568	10	0.56958	D	0.05	.	12.6402	0.56705	0.0:0.9253:0.0:0.0747	.	245;245	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	245	ENSP00000348666:S245F;ENSP00000350854:S245F	ENSP00000348666:S245F	S	+	2	0	VPS13D	12239041	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.603000	0.67619	2.820000	0.97059	0.650000	0.86243	TCT		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VPS13D	55187	broad.mit.edu	37	1	12422863	12422863	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:12422863C>A	ENST00000358136.3	+	51	10359	c.10229C>A	c.(10228-10230)tCt>tAt	p.S3410Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.S3385Y	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.S3410Y(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)		AATAAATCATCTCACAAGCTT	0.423																																					p.S3385Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10154A	1						.						186.0	181.0	182.0					1																	12422863		2203	4300	6503	12345450	SO:0001583	missense	55187	exon50			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.10229C>A	1.37:g.12422863C>A	ENSP00000350854:p.Ser3410Tyr		12345450	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.465919|4.465919	0.84425|0.84425	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.33865	.|1.39;1.39	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Vacuolar protein sorting-associated protein (1);	.|0.160792	.|0.53938	.|D	.|0.000050	T|T	0.55114|0.55114	0.1900|0.1900	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.991;0.993	.|P;D	.|0.63381	.|0.861;0.914	T|T	0.57213|0.57213	-0.7850|-0.7850	5|10	.|0.66056	.|D	.|0.02	.|.	11.7611|11.7611	0.51903|0.51903	0.1286:0.7319:0.1395:0.0|0.1286:0.7319:0.1395:0.0	.|.	.|3385;3409	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	I|Y	2232|3385;3410	.|ENSP00000348666:S3385Y;ENSP00000350854:S3410Y	.|ENSP00000348666:S3385Y	L|S	+|+	1|2	0|0	VPS13D|VPS13D	12345450|12345450	0.048000|0.048000	0.20356|0.20356	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.237000|1.237000	0.32695|0.32695	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VTCN1	79679	broad.mit.edu	37	1	117699220	117699220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:117699220C>T	ENST00000369458.3	-	3	499	c.421G>A	c.(421-423)Gct>Act	p.A141T	VTCN1_ENST00000359008.4_Missense_Mutation_p.A144T|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Missense_Mutation_p.A46T|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.A141T(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)		TCAAGGTTAGCATTCCCCTTG	0.388																																					p.A141T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G421A	1						.						63.0	63.0	63.0					1																	117699220		2203	4300	6503	117500743	SO:0001583	missense	79679	exon3			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.421G>A	1.37:g.117699220C>T	ENSP00000358470:p.Ala141Thr		117500743	NM_024626		Missense_Mutation	SNP	ENST00000369458.3	37	CCDS894.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017041	0.93404	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.02890	4.12;4.12;4.12	6.14	6.14	0.99180	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.190947	0.36972	N	0.002318	T	0.02230	0.0069	L	0.39326	1.205	0.50632	D	0.99988	B	0.30605	0.287	B	0.34346	0.18	T	0.56498	-0.7969	10	0.44086	T	0.13	-17.3234	17.975	0.89124	0.0:1.0:0.0:0.0	.	141	Q7Z7D3	VTCN1_HUMAN	T	141;144;46	ENSP00000358470:A141T;ENSP00000351899:A144T;ENSP00000444724:A46T	ENSP00000351899:A144T	A	-	1	0	VTCN1	117500743	0.988000	0.35896	1.000000	0.80357	0.882000	0.50991	2.727000	0.47311	2.927000	0.99377	0.637000	0.83480	GCT		0.388	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
NUDT17	200035	broad.mit.edu	37	1	145586651	145586651	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:145586651C>A	ENST00000334513.5	-	8	936	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	309							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.G309W(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTGCTGGCCCTGGGTCCAGG	0.527																																					p.G309W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925T	1						.						118.0	116.0	117.0					1																	145586651		2203	4300	6503	144298008	SO:0001583	missense	200035	exon8			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.925G>T	1.37:g.145586651C>A	ENSP00000334437:p.Gly309Trp		144298008	NM_001012758		Missense_Mutation	SNP	ENST00000334513.5	37	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915839	0.52546	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.59	1.48	0.22813	.	.	.	.	.	T	0.21761	0.0524	L	0.36672	1.1	0.09310	N	1	D	0.63046	0.992	P	0.55545	0.778	T	0.04737	-1.0930	8	0.72032	D	0.01	-0.6719	5.9438	0.19207	0.0:0.6244:0.0:0.3756	.	309	P0C025	NUD17_HUMAN	W	309	.	ENSP00000334437:G309W	G	-	1	0	NUDT17	144298008	0.000000	0.05858	0.002000	0.10522	0.397000	0.30659	-1.423000	0.02450	0.192000	0.20272	-0.355000	0.07637	GGG		0.527	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395	
PLEKHO1	51177	broad.mit.edu	37	1	150131571	150131571	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:150131571G>T	ENST00000369124.4	+	6	1361	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.E178D|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.E327D	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	361	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E361D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGGAGAGGCATCATCGA	0.622																																					p.E361D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1083T	1						.						45.0	48.0	47.0					1																	150131571		2203	4300	6503	148398195	SO:0001583	missense	51177	exon6			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1083G>T	1.37:g.150131571G>T	ENSP00000358120:p.Glu361Asp		148398195	NM_016274	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004172	0.74932	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124	T;T	0.70869	-0.52;-0.09	5.24	1.27	0.21489	.	0.049861	0.85682	D	0.000000	T	0.43478	0.1249	L	0.27053	0.805	0.50632	D	0.999882	P	0.48694	0.914	B	0.43838	0.433	T	0.46775	-0.9167	10	0.72032	D	0.01	-29.6242	9.5566	0.39343	0.2909:0.0:0.7091:0.0	.	361	Q53GL0	PKHO1_HUMAN	D	178;327;361	ENSP00000025469:E327D;ENSP00000358120:E361D	ENSP00000025469:E327D	E	+	3	2	PLEKHO1	148398195	1.000000	0.71417	0.973000	0.42090	0.886000	0.51366	2.689000	0.46993	0.379000	0.24794	0.655000	0.94253	GAG		0.622	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	
ADAMTSL4	54507	broad.mit.edu	37	1	150526362	150526362	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:150526362C>T	ENST00000369038.2	+	4	1096	c.895C>T	c.(895-897)Cct>Tct	p.P299S	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P299S|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P299S|RP11-54A4.2_ENST00000442435.2_RNA|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P299S			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	299					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.P299S(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGGGAGACGCCCTGATCCTTT	0.677																																					p.P299S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C895T	1						.						35.0	34.0	35.0					1																	150526362		2203	4300	6503	148792986	SO:0001583	missense	54507	exon6			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.895C>T	1.37:g.150526362C>T	ENSP00000358034:p.Pro299Ser		148792986	NM_019032	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339851	0.60963	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.63580	0.03;-0.05;0.25;-0.05	4.97	4.03	0.46877	.	.	.	.	.	T	0.55673	0.1935	L	0.29908	0.895	0.09310	N	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;0.994;0.998	T	0.52808	-0.8526	9	0.40728	T	0.16	.	12.9337	0.58301	0.0:0.8355:0.1645:0.0	.	299;299;299;299	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	S	299	ENSP00000358037:P299S;ENSP00000271643:P299S;ENSP00000358035:P299S;ENSP00000358034:P299S	ENSP00000271643:P299S	P	+	1	0	ADAMTSL4	148792986	0.074000	0.21230	0.002000	0.10522	0.057000	0.15508	3.754000	0.55189	1.057000	0.40506	0.555000	0.69702	CCT		0.677	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
TCHH	7062	broad.mit.edu	37	1	152079945	152079945	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:152079945G>A	ENST00000368804.1	-	2	5747	c.5748C>T	c.(5746-5748)ggC>ggT	p.G1916G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1916					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.G1916G(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)			ACTGATGAGTGCCGGGCTCCA	0.557																																					p.G1916G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5748T	1						.						124.0	127.0	126.0					1																	152079945		1955	4136	6091	150346569	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.5748C>T	1.37:g.152079945G>A			150346569	NM_007113	Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																				0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
TCHH	7062	broad.mit.edu	37	1	152081840	152081840	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:152081840G>A	ENST00000368804.1	-	2	3852	c.3853C>T	c.(3853-3855)Cgc>Tgc	p.R1285C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1285					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1285C(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)			TGCTGCCAGCGCCTCCTCTCT	0.567																																					p.R1285C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3853T	1						.						102.0	105.0	104.0					1																	152081840		2001	4156	6157	150348464	SO:0001583	missense	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.3853C>T	1.37:g.152081840G>A	ENSP00000357794:p.Arg1285Cys		150348464	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731481	0.30684	.	.	ENSG00000159450	ENST00000368804	T	0.08984	3.03	3.97	3.01	0.34805	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.53360	0.724	T	0.37979	-0.9682	9	0.56958	D	0.05	.	8.6612	0.34093	0.0:0.0:0.5089:0.4911	.	1285	Q07283	TRHY_HUMAN	C	1285	ENSP00000357794:R1285C	ENSP00000357794:R1285C	R	-	1	0	TCHH	150348464	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	-1.541000	0.02198	0.580000	0.29522	0.563000	0.77884	CGC		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
FLG	2312	broad.mit.edu	37	1	152283631	152283631	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:152283631G>A	ENST00000368799.1	-	3	3766	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1244	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1244V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTGTCAGCCCAAGAGGC	0.552									Ichthyosis																												p.A1244V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3731T	1						.						296.0	281.0	286.0					1																	152283631		2203	4300	6503	150550255	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3731C>T	1.37:g.152283631G>A	ENSP00000357789:p.Ala1244Val		150550255	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	6.737	0.504728	0.12822	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	2.24	-3.47	0.04753	.	.	.	.	.	T	0.00666	0.0022	M	0.78801	2.425	0.09310	N	1	B	0.24618	0.107	B	0.16722	0.016	T	0.46498	-0.9187	9	0.25751	T	0.34	.	0.2122	0.00158	0.281:0.2158:0.2858:0.2174	.	1244	P20930	FILA_HUMAN	V	1244	ENSP00000357789:A1244V	ENSP00000357789:A1244V	A	-	2	0	FLG	150550255	0.019000	0.18553	0.000000	0.03702	0.001000	0.01503	0.711000	0.25764	-0.420000	0.07427	0.186000	0.17326	GCT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	broad.mit.edu	37	1	152324039	152324039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:152324039G>A	ENST00000388718.5	-	3	6295	c.6223C>T	c.(6223-6225)Cag>Tag	p.Q2075*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2075					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q2075*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGTCTGTCCATGAGTA	0.532																																					p.Q2075X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6223T	1						.						552.0	486.0	509.0					1																	152324039		2203	4300	6503	150590663	SO:0001587	stop_gained	388698	exon3			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6223C>T	1.37:g.152324039G>A	ENSP00000373370:p.Gln2075*		150590663	NM_001014342	Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	44	11.046294	0.99507	.	.	ENSG00000143520	ENST00000388718	.	.	.	4.69	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	9.0222	0.36206	0.1007:0.0:0.8993:0.0	.	.	.	.	X	2075	.	ENSP00000373370:Q2075X	Q	-	1	0	FLG2	150590663	0.470000	0.25854	0.067000	0.19924	0.083000	0.17756	2.116000	0.41930	1.360000	0.45960	0.644000	0.83932	CAG		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
CRNN	49860	broad.mit.edu	37	1	152383359	152383359	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:152383359C>A	ENST00000271835.3	-	3	261	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	67	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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.G67W(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)			TCCACAGTCCCTGTGTGGTCT	0.542																																					p.G67W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199T	1						.						49.0	52.0	51.0					1																	152383359		2197	4296	6493	150649983	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.199G>T	1.37:g.152383359C>A	ENSP00000271835:p.Gly67Trp		150649983	NM_016190	B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442825	0.63067	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.25749	1.78	4.73	4.73	0.59995	EF-hand-like domain (1);	0.000000	0.47852	D	0.000215	T	0.57799	0.2078	H	0.96805	3.885	0.38996	D	0.959244	D	0.89917	1.0	D	0.91635	0.999	T	0.72408	-0.4303	10	0.87932	D	0	.	13.0803	0.59109	0.0:1.0:0.0:0.0	.	67	Q9UBG3	CRNN_HUMAN	W	67	ENSP00000271835:G67W	ENSP00000271835:G67W	G	-	1	0	CRNN	150649983	0.352000	0.24895	0.747000	0.31113	0.815000	0.46073	2.379000	0.44318	2.449000	0.82847	0.305000	0.20034	GGG		0.542	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190	
NPR1	4881	broad.mit.edu	37	1	153659519	153659519	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:153659519C>A	ENST00000368680.3	+	12	2363	c.1891C>A	c.(1891-1893)Ctg>Atg	p.L631M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	631	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|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)	p.L631M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCATCACCCTGGACTGGAT	0.552																																					p.L631M	Pancreas(141;1349 1870 15144 15830 40702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1891A	1						.						154.0	124.0	134.0					1																	153659519		2203	4300	6503	151926143	SO:0001583	missense	4881	exon12			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1891C>A	1.37:g.153659519C>A	ENSP00000357669:p.Leu631Met		151926143	NM_000906	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147309	0.57151	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.69685	-0.42	4.29	0.12	0.14691	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	T	0.71341	0.3328	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.957;0.998	T	0.69661	-0.5085	10	0.30854	T	0.27	.	7.7211	0.28733	0.0:0.6068:0.0:0.3932	.	110;631	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	631;110	ENSP00000357669:L631M	ENSP00000357669:L631M	L	+	1	2	NPR1	151926143	0.267000	0.24122	0.993000	0.49108	0.979000	0.70002	0.909000	0.28558	-0.063000	0.13065	0.455000	0.32223	CTG		0.552	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
PBXIP1	57326	broad.mit.edu	37	1	154918181	154918181	+	Missense_Mutation	SNP	G	G	A	rs200704535		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:154918181G>A	ENST00000368463.3	-	10	2040	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W	PBXIP1_ENST00000542459.1_Missense_Mutation_p.R502W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R484W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R628W|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	657					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.R657W(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)			ACAAAATCCCGGAAGCGGAGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20278	0.0		0.001	False		,,,				2504	0.0				p.R657W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1969T	1						.	G	TRP/ARG	0,4406		0,0,2203	96.0	86.0	89.0		1969	1.1	1.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	PBXIP1	NM_020524.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	657/732	154918181	1,13005	2203	4300	6503	153184805	SO:0001583	missense	57326	exon10			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.1969C>T	1.37:g.154918181G>A	ENSP00000357448:p.Arg657Trp		153184805	NM_020524	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.55	3.417847	0.62622	0.0	1.16E-4	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.13196	2.61;2.61;2.63;2.62	5.24	1.1	0.20463	.	0.341610	0.26234	N	0.025548	T	0.06872	0.0175	L	0.48362	1.52	0.33201	D	0.552167	D	0.61080	0.989	P	0.48738	0.588	T	0.14699	-1.0463	10	0.72032	D	0.01	-20.4258	5.379	0.16181	0.2347:0.0:0.6099:0.1554	.	657	Q96AQ6	PBIP1_HUMAN	W	628;657;588;484;433;502	ENSP00000357450:R628W;ENSP00000357448:R657W;ENSP00000440142:R484W;ENSP00000438584:R502W	ENSP00000295523:R588W	R	-	1	2	PBXIP1	153184805	0.751000	0.28327	1.000000	0.80357	0.996000	0.88848	0.407000	0.21049	0.551000	0.29008	0.455000	0.32223	CGG		0.567	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	
GBA	2629	broad.mit.edu	37	1	155207351	155207351	+	Silent	SNP	A	A	G	rs546199839		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:155207351A>G	ENST00000327247.5	-	8	1012	c.780T>C	c.(778-780)gcT>gcC	p.A260A	GBA_ENST00000368373.3_Silent_p.A260A|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000428024.3_Silent_p.A173A|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000427500.3_Silent_p.A211A|GBA_ENST00000536770.1_Silent_p.A147A	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	260					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.A260A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	ACTTGTGCTCAGCATAGGCAT	0.547									Gaucher disease type I				a|||	1	0.000199681	0.0	0.0014	5008	,	,		19845	0.0		0.0	False		,,,				2504	0.0				p.A260A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T780C	1						.						33.0	28.0	30.0					1																	155207351		2203	4297	6500	153473975	SO:0001819	synonymous_variant	2629	exon7	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.780T>C	1.37:g.155207351A>G			153473975	NM_000157	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	CCDS1102.1																																																																																				0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157	
YY1AP1	55249	broad.mit.edu	37	1	155649212	155649212	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:155649212G>T	ENST00000295566.4	-	4	334	c.311C>A	c.(310-312)cCt>cAt	p.P104H	YY1AP1_ENST00000368339.5_Missense_Mutation_p.P176H|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P27H|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Missense_Mutation_p.P38H|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P27H|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P38H|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P38H|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P38H|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P38H|YY1AP1_ENST00000405763.3_Missense_Mutation_p.P176H|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P27H|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P176H|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P27H	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	104					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P104H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TAGAGCTTGAGGGGTGTTAAA	0.443																																					p.P104H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311A	1						.						120.0	100.0	107.0					1																	155649212		2203	4300	6503	153915836	SO:0001583	missense	55249	exon4			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.311C>A	1.37:g.155649212G>T	ENSP00000295566:p.Pro104His		153915836	NM_001198906	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039167	0.35989	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.38722	1.34;1.25;1.35;1.25;1.34;1.12;1.15;1.25;1.35;1.23;1.15	3.18	3.18	0.36537	.	0.138572	0.48767	D	0.000177	T	0.53997	0.1831	M	0.70275	2.135	0.41384	D	0.987571	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.982;0.992;0.998;0.996;0.99;0.982;0.974	T	0.62604	-0.6819	10	0.87932	D	0	.	14.0728	0.64870	0.0:0.0:1.0:0.0	.	38;104;176;176;104;38;176	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	H	27;38;27;38;27;176;104;38;27;38;176;176;38;27;38	ENSP00000352134:P27H;ENSP00000347686:P38H;ENSP00000311138:P27H;ENSP00000316079:P38H;ENSP00000355298:P27H;ENSP00000357324:P176H;ENSP00000295566:P104H;ENSP00000357314:P38H;ENSP00000385791:P27H;ENSP00000385390:P38H;ENSP00000357323:P176H	ENSP00000295566:P104H	P	-	2	0	YY1AP1	153915836	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	5.988000	0.70579	1.589000	0.49982	0.305000	0.20034	CCT		0.443	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
TMEM79	84283	broad.mit.edu	37	1	156255380	156255380	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:156255380G>A	ENST00000405535.2	+	2	534	c.363G>A	c.(361-363)ctG>ctA	p.L121L	TMEM79_ENST00000357501.2_Intron|SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000295694.5_Silent_p.L121L|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	121					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.L121L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCAACCTGCTGCCTGAGAAAG	0.617																																					p.L121L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G363A	1						.						66.0	69.0	68.0					1																	156255380		2203	4300	6503	154522004	SO:0001819	synonymous_variant	84283	exon2			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.363G>A	1.37:g.156255380G>A			154522004	NM_032323	B2RE22|D3DVB8	Silent	SNP	ENST00000405535.2	37	CCDS1138.1																																																																																				0.617	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323	
TTC24	164118	broad.mit.edu	37	1	156556273	156556273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:156556273G>A	ENST00000368237.3	+	10	1680	c.1680G>A	c.(1678-1680)tgG>tgA	p.W560*	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Nonsense_Mutation_p.W560*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	560								p.W560*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCCAGGTGGCCCAGGGAAA	0.652																																					p.W560X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1680A	1						.						37.0	48.0	44.0					1																	156556273		1990	4171	6161	154822897	SO:0001587	stop_gained	164118	exon11				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1680G>A	1.37:g.156556273G>A	ENSP00000357220:p.Trp560*		154822897	NM_001105669	Q5T3H7	Nonsense_Mutation	SNP	ENST00000368237.3	37	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.634289|3.634289	0.67130|0.67130	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.48|4.48	2.42|2.42	0.29668|0.29668	.|.	.|1.086510	.|0.07207	.|N	.|0.858457	T|.	0.30727|.	0.0774|.	.|.	.|.	.|.	0.39626|0.39626	D|D	0.970106|0.970106	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.47935|.	-0.9078|.	4|.	.|.	.|.	.|.	-2.5538|-2.5538	4.7489|4.7489	0.13050|0.13050	0.1234:0.2268:0.6499:0.0|0.1234:0.2268:0.6499:0.0	.|.	.|.	.|.	.|.	D|X	333|560	.|.	.|.	G|W	+|+	2|3	0|0	TTC24|TTC24	154822897|154822897	0.036000|0.036000	0.19791|0.19791	0.133000|0.133000	0.22050|0.22050	0.005000|0.005000	0.04900|0.04900	1.638000|1.638000	0.37165|0.37165	1.106000|1.106000	0.41623|0.41623	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.652	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384	
SH2D2A	9047	broad.mit.edu	37	1	156784052	156784052	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:156784052C>A	ENST00000368199.3	-	4	496	c.343G>T	c.(343-345)Ggg>Tgg	p.G115W	NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000392306.2_Missense_Mutation_p.G125W|SH2D2A_ENST00000495306.1_5'Flank|SH2D2A_ENST00000368198.3_Missense_Mutation_p.G97W	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	115	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.G115W(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTAGCACCCCTGAGGCTTG	0.687																																					p.G87W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259T	1						.						29.0	29.0	29.0					1																	156784052		2203	4300	6503	155050676	SO:0001583	missense	9047	exon3			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.343G>T	1.37:g.156784052C>A	ENSP00000357182:p.Gly115Trp		155050676	NM_001161443	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121312	0.77436	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	D;D;D	0.99839	-7.07;-7.07;-7.07	4.64	3.72	0.42706	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.94925	3.6	0.47441	D	0.99942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97143	0.9826	10	0.87932	D	0	-15.1121	10.0836	0.42404	0.0:0.9052:0.0:0.0948	.	125;97;115	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	W	115;97;125	ENSP00000357182:G115W;ENSP00000357181:G97W;ENSP00000376123:G125W	ENSP00000357181:G97W	G	-	1	0	SH2D2A	155050676	0.993000	0.37304	0.955000	0.39395	0.952000	0.60782	4.017000	0.57167	1.312000	0.45043	0.556000	0.70494	GGG		0.687	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	
ARHGEF11	9826	broad.mit.edu	37	1	156941540	156941540	+	Intron	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:156941540C>T	ENST00000361409.2	-	8	1325				ARHGEF11_ENST00000368194.3_Silent_p.R217R	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.R217R(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)					GAGTGACTCGCCGCCGGGCAC	0.582																																					p.R217R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	1						.						72.0	69.0	70.0					1																	156941540		2203	4300	6503	155208164	SO:0001627	intron_variant	9826	exon8			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.583-1705G>A	1.37:g.156941540C>T			155208164	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																				0.582	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
CDK11B	984	broad.mit.edu	37	1	1573191	1573191	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:1573191G>A	ENST00000407249.3	-	14	1405	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	CDK11B_ENST00000340677.5_Missense_Mutation_p.P456L|CDK11B_ENST00000341832.6_Missense_Mutation_p.P422L|CDK11B_ENST00000317673.7_Missense_Mutation_p.P467L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P469L(1)|p.P469Q(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CGACGTGATCGGGAAGCCCTC	0.552																																					p.P464L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1391T	1						.						244.0	248.0	247.0					1																	1573191		2066	4201	6267	1563054	SO:0001583	missense	984	exon13			AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1406C>T	1.37:g.1573191G>A	ENSP00000464036:p.Pro469Leu		1563054	NM_033486	O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	ENST00000407249.3	37																																																																																					0.552	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787	
FCRL1	115350	broad.mit.edu	37	1	157771725	157771725	+	Missense_Mutation	SNP	G	G	A	rs533592414	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:157771725G>A	ENST00000368176.3	-	5	933	c.866C>T	c.(865-867)gCg>gTg	p.A289V	FCRL1_ENST00000491942.1_Missense_Mutation_p.A289V|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.A289V	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	289	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A289V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAGTGTCACCGCCTCACTGCG	0.552													G|||	3	0.000599042	0.0	0.0	5008	,	,		20004	0.0		0.0	False		,,,				2504	0.0031				p.A289V	GBM(54;482 1003 11223 30131 35730)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C866T	1						.						81.0	86.0	84.0					1																	157771725		2203	4300	6503	156038349	SO:0001583	missense	115350	exon5			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.866C>T	1.37:g.157771725G>A	ENSP00000357158:p.Ala289Val		156038349	NM_001159398	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.307746	0.00240	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03301	3.98;3.98;3.98	5.1	-10.2	0.00374	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.445050	0.01088	N	0.005137	T	0.00580	0.0019	N	0.11845	0.185	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.36016	-0.9765	10	0.24483	T	0.36	.	8.913	0.35565	0.148:0.0:0.4933:0.3588	.	289;289;289	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	V	289	ENSP00000351039:A289V;ENSP00000357158:A289V;ENSP00000418130:A289V	ENSP00000351039:A289V	A	-	2	0	FCRL1	156038349	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.002000	0.01464	-3.236000	0.00208	-2.926000	0.00089	GCG		0.552	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938	
OR6N1	128372	broad.mit.edu	37	1	158735980	158735980	+	Missense_Mutation	SNP	G	G	A	rs376516662	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:158735980G>A	ENST00000335094.2	-	1	512	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AATGGGAGGCGTGAAATCAAG	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		18610	0.0		0.0	False		,,,				2504	0.002				p.R165C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C493T	1						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	73.0	72.0		493	3.8	0.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N1	NM_001005185.1	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	165/313	158735980	2,13004	2203	4300	6503	157002604	SO:0001583	missense	128372	exon1			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.493C>T	1.37:g.158735980G>A	ENSP00000335535:p.Arg165Cys		157002604	NM_001005185	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679686	0.29783	2.27E-4	1.16E-4	ENSG00000197403	ENST00000335094	T	0.00188	8.59	4.78	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.147838	0.31784	N	0.007076	T	0.00109	0.0003	L	0.41961	1.31	0.09310	N	1	D	0.63046	0.992	P	0.56648	0.803	T	0.22277	-1.0221	10	0.62326	D	0.03	-5.8576	6.1984	0.20563	0.0919:0.0:0.6264:0.2817	.	165	Q8NGY5	OR6N1_HUMAN	C	165	ENSP00000335535:R165C	ENSP00000335535:R165C	R	-	1	0	OR6N1	157002604	0.006000	0.16342	0.009000	0.14445	0.316000	0.28119	0.632000	0.24583	2.454000	0.82982	0.655000	0.94253	CGC		0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
NCSTN	23385	broad.mit.edu	37	1	160318816	160318816	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:160318816T>A	ENST00000294785.5	+	3	343	c.218T>A	c.(217-219)aTc>aAc	p.I73N	NCSTN_ENST00000535857.1_Missense_Mutation_p.I73N|NCSTN_ENST00000368063.1_Missense_Mutation_p.I53N|NCSTN_ENST00000392212.4_Missense_Mutation_p.I53N|NCSTN_ENST00000368065.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	73					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.I73N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGGGGTTATCCACGTAGTA	0.468																																					p.I73N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T218A	1						.						115.0	114.0	114.0					1																	160318816		2203	4300	6503	158585440	SO:0001583	missense	23385	exon3			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.218T>A	1.37:g.160318816T>A	ENSP00000294785:p.Ile73Asn		158585440	NM_015331	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360760	0.82353	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T;T	0.80304	-1.36;-1.34;-0.53;-0.42;-0.4;-0.49;-1.34	5.08	5.08	0.68730	.	0.146153	0.46758	D	0.000265	D	0.84206	0.5421	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.997	P;D;P	0.63597	0.906;0.916;0.897	D	0.86661	0.1904	10	0.72032	D	0.01	-23.8922	12.2431	0.54555	0.0:0.0:0.0:1.0	.	73;53;73	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	N	73;53;73;73;73;106;53	ENSP00000294785:I73N;ENSP00000357042:I53N;ENSP00000415442:I73N;ENSP00000390409:I73N;ENSP00000442605:I73N;ENSP00000389370:I106N;ENSP00000376047:I53N	ENSP00000294785:I73N	I	+	2	0	NCSTN	158585440	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	6.864000	0.75494	1.910000	0.55303	0.533000	0.62120	ATC		0.468	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	
RSC1A1	6248	broad.mit.edu	37	1	15987165	15987165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:15987165C>T	ENST00000345034.1	+	1	802	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	268					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)	p.Q268*(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACAGGCAGGCAGAATGCCAA	0.383																																					p.Q268X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C802T	1						.						80.0	78.0	78.0					1																	15987165		2203	4300	6503	15859752	SO:0001587	stop_gained	6248	exon1			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.802C>T	1.37:g.15987165C>T	ENSP00000341963:p.Gln268*		15859752	NM_006511	B2RBP5	Nonsense_Mutation	SNP	ENST00000345034.1	37	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473709	0.43942	.	.	ENSG00000215695	ENST00000345034	.	.	.	5.71	5.71	0.89125	.	0.344894	0.20854	U	0.084469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-30.6945	16.5883	0.84745	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	ENSP00000341963:Q268X	Q	+	1	0	RSC1A1	15859752	0.365000	0.25006	0.631000	0.29282	0.163000	0.22366	3.264000	0.51553	2.698000	0.92095	0.561000	0.74099	CAG		0.383	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511	
NCSTN	23385	broad.mit.edu	37	1	160323964	160323964	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:160323964C>A	ENST00000294785.5	+	11	1361	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Silent_p.I274I|NCSTN_ENST00000368063.1_Silent_p.I392I|NCSTN_ENST00000392212.4_Silent_p.I392I|NCSTN_ENST00000368065.4_Silent_p.I154I	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	412					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.I412I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGTCATCCTCAGGAGGC	0.577																																					p.I412I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1236A	1						.						156.0	123.0	134.0					1																	160323964		2203	4300	6503	158590588	SO:0001819	synonymous_variant	23385	exon11			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1236C>A	1.37:g.160323964C>A			158590588	NM_015331	Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	8.058	0.767581	0.15983	.	.	ENSG00000162736	ENST00000424645;ENST00000435149	.	.	.	5.3	0.721	0.18219	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32981	-0.9886	4	.	.	.	-1.5833	3.5924	0.07993	0.1258:0.5371:0.1109:0.2262	.	.	.	.	Y	248;89	.	.	S	+	2	0	NCSTN	158590588	0.048000	0.20356	0.308000	0.25141	0.993000	0.82548	0.654000	0.24918	0.244000	0.21351	0.655000	0.94253	TCC		0.577	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	
SLAMF7	57823	broad.mit.edu	37	1	160719756	160719756	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:160719756C>T	ENST00000368043.3	+	3	559	c.522C>T	c.(520-522)tcC>tcT	p.S174S	SLAMF7_ENST00000359331.4_Silent_p.S174S|SLAMF7_ENST00000458104.2_Silent_p.S67S|SLAMF7_ENST00000368042.3_Silent_p.S67S|SLAMF7_ENST00000458602.2_Silent_p.S67S|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	174	Ig-like C2-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S174S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCAATGAGTCCCATAATGGGT	0.522																																					p.S174S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	1						.						92.0	95.0	94.0					1																	160719756		2203	4300	6503	158986380	SO:0001819	synonymous_variant	57823	exon3			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.522C>T	1.37:g.160719756C>T			158986380	NM_021181	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Silent	SNP	ENST00000368043.3	37	CCDS1209.1																																																																																				0.522	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	
SPEN	23013	broad.mit.edu	37	1	16258348	16258348	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:16258348G>T	ENST00000375759.3	+	11	5817	c.5613G>T	c.(5611-5613)gaG>gaT	p.E1871D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1871					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E1871D(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAAGATGGAGGCAGAGAAGA	0.498																																					p.E1871D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5613T	1						.						70.0	76.0	74.0					1																	16258348		2203	4300	6503	16130935	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5613G>T	1.37:g.16258348G>T	ENSP00000364912:p.Glu1871Asp		16130935	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036711	0.35893	.	.	ENSG00000065526	ENST00000375759	T	0.10099	2.91	5.27	1.28	0.21552	.	.	.	.	.	T	0.24392	0.0591	M	0.63428	1.95	0.32214	N	0.576073	D	0.58268	0.982	D	0.67548	0.952	T	0.15607	-1.0431	9	0.39692	T	0.17	-22.6171	9.4334	0.38624	0.4326:0.0:0.5674:0.0	.	1871	Q96T58	MINT_HUMAN	D	1871	ENSP00000364912:E1871D	ENSP00000364912:E1871D	E	+	3	2	SPEN	16130935	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.656000	0.24948	0.243000	0.21327	-0.373000	0.07131	GAG		0.498	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
USP21	27005	broad.mit.edu	37	1	161130705	161130705	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:161130705G>A	ENST00000289865.8	+	2	496	c.275G>A	c.(274-276)gGc>gAc	p.G92D	USP21_ENST00000368001.1_Missense_Mutation_p.G92D|USP21_ENST00000368002.3_Missense_Mutation_p.G92D|RP11-297K8.2_ENST00000420498.1_RNA	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	92					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.G92D(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)			CCCCTGCCTGGCTCACCACCC	0.622																																					p.G92D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275A	1						.						73.0	67.0	69.0					1																	161130705		2203	4300	6503	159397329	SO:0001583	missense	27005	exon2			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.275G>A	1.37:g.161130705G>A	ENSP00000289865:p.Gly92Asp		159397329	NM_012475	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325750	0.60743	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.44881	0.91;0.91;0.91	5.14	5.14	0.70334	.	1.407160	0.04746	N	0.423655	T	0.16428	0.0395	N	0.14661	0.345	0.34482	D	0.703988	B	0.26635	0.155	B	0.21360	0.034	T	0.01276	-1.1398	10	0.62326	D	0.03	.	11.0156	0.47687	0.0856:0.0:0.9144:0.0	.	92	Q9UK80	UBP21_HUMAN	D	92	ENSP00000356981:G92D;ENSP00000289865:G92D;ENSP00000356980:G92D	ENSP00000289865:G92D	G	+	2	0	USP21	159397329	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.275000	0.43399	2.666000	0.90696	0.561000	0.74099	GGC		0.622	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
DUSP27	92235	broad.mit.edu	37	1	167095144	167095144	+	Missense_Mutation	SNP	G	G	A	rs376151635		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:167095144G>A	ENST00000361200.2	+	6	942	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.R259Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.R259Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	259	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R259Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGTAAGAAGCGGGCCATCTAC	0.572																																					p.R259Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G776A	1						.	G	GLN/ARG	0,4406		0,0,2203	88.0	82.0	84.0		776	5.6	1.0	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP27	NM_001080426.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	259/1159	167095144	1,13005	2203	4300	6503	165361768	SO:0001583	missense	92235	exon5			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.776G>A	1.37:g.167095144G>A	ENSP00000354483:p.Arg259Gln		165361768	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	36	5.753304	0.96890	0.0	1.16E-4	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.78246	-1.16;-1.16;-1.16	5.55	5.55	0.83447	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.213269	0.40908	D	0.000995	D	0.91157	0.7215	H	0.94847	3.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.93083	0.6493	10	0.87932	D	0	-29.2708	19.509	0.95133	0.0:0.0:1.0:0.0	.	259	Q5VZP5	DUS27_HUMAN	Q	259	ENSP00000354483:R259Q;ENSP00000271385:R259Q;ENSP00000404874:R259Q	ENSP00000271385:R259Q	R	+	2	0	DUSP27	165361768	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.859000	0.99545	2.593000	0.87608	0.643000	0.83706	CGG		0.572	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
GPR161	23432	broad.mit.edu	37	1	168066019	168066019	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:168066019G>T	ENST00000367838.1	-	5	1139	c.826C>A	c.(826-828)Ctc>Atc	p.L276I	GPR161_ENST00000546300.1_Missense_Mutation_p.L162I|GPR161_ENST00000361697.2_Missense_Mutation_p.L276I|GPR161_ENST00000539777.1_Missense_Mutation_p.L198I|GPR161_ENST00000367836.1_Missense_Mutation_p.L144I|GPR161_ENST00000367835.1_Missense_Mutation_p.L276I|GPR161_ENST00000537209.1_Missense_Mutation_p.L296I|GPR161_ENST00000271357.5_Missense_Mutation_p.L276I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	276					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.L276I(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AAGGCACCGAGGACCACCAGG	0.617																																					p.L276I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826A	1						.						91.0	93.0	93.0					1																	168066019		2203	4300	6503	166332643	SO:0001583	missense	23432	exon5			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.826C>A	1.37:g.168066019G>T	ENSP00000356812:p.Leu276Ile		166332643	NM_153832	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	0.817	-0.749878	0.03041	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.48	-2.66	0.06077	GPCR, rhodopsin-like superfamily (1);	0.458542	0.25780	N	0.028349	T	0.19604	0.0471	N	0.03016	-0.435	0.23371	N	0.997819	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.003;0.003;0.003;0.001;0.001	T	0.08597	-1.0714	9	0.17369	T	0.5	-6.6673	6.4921	0.22121	0.0:0.1949:0.3566:0.4485	.	296;162;198;296;276;276	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	I	276;276;144;276;162;198;296;276	ENSP00000356812:L276I;ENSP00000271357:L276I;ENSP00000356810:L144I;ENSP00000356809:L276I;ENSP00000444348:L162I;ENSP00000437576:L198I;ENSP00000441039:L296I;ENSP00000355194:L276I	ENSP00000271357:L276I	L	-	1	0	GPR161	166332643	0.972000	0.33761	0.147000	0.22382	0.971000	0.66376	0.152000	0.16302	-0.396000	0.07703	-0.397000	0.06425	CTC		0.617	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
DPT	1805	broad.mit.edu	37	1	168698256	168698256	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:168698256C>A	ENST00000367817.3	-	1	246	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	53	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G53W(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					ATCACCTGCCCCTGGGGACAC	0.547																																					p.G53W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157T	1						.						115.0	93.0	100.0					1																	168698256		2203	4300	6503	166964880	SO:0001583	missense	1805	exon1			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.157G>T	1.37:g.168698256C>A	ENSP00000356791:p.Gly53Trp		166964880	NM_001937	A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431489	0.83776	.	.	ENSG00000143196	ENST00000367817	T	0.51817	0.69	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.63843	1.955	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.65965	-0.6040	9	0.87932	D	0	-11.4637	18.2957	0.90145	0.0:1.0:0.0:0.0	.	53	Q07507	DERM_HUMAN	W	53	ENSP00000356791:G53W	ENSP00000356791:G53W	G	-	1	0	DPT	166964880	1.000000	0.71417	0.964000	0.40570	0.958000	0.62258	7.374000	0.79633	2.397000	0.81536	0.655000	0.94253	GGG		0.547	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937	
BLZF1	8548	broad.mit.edu	37	1	169351377	169351377	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:169351377C>T	ENST00000367808.3	+	6	1298	c.875C>T	c.(874-876)aCa>aTa	p.T292I	BLZF1_ENST00000329281.2_Missense_Mutation_p.T292I			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	292					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.T292I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CCCCACAGCACAGCAGAGCTA	0.408																																					p.T292I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	1						.						142.0	135.0	138.0					1																	169351377		2203	4300	6503	167618001	SO:0001583	missense	8548	exon6			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.875C>T	1.37:g.169351377C>T	ENSP00000356782:p.Thr292Ile		167618001	NM_003666	O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307079	0.81247	.	.	ENSG00000117475	ENST00000367808;ENST00000329281	T;T	0.32753	1.44;1.44	5.81	5.81	0.92471	.	0.047739	0.85682	D	0.000000	T	0.45637	0.1352	L	0.54323	1.7	0.47659	D	0.999482	D	0.76494	0.999	D	0.72075	0.976	T	0.16305	-1.0407	9	0.45353	T	0.12	-0.1503	20.081	0.97775	0.0:1.0:0.0:0.0	.	292	Q9H2G9	GO45_HUMAN	I	292	ENSP00000356782:T292I;ENSP00000327541:T292I	ENSP00000327541:T292I	T	+	2	0	BLZF1	167618001	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.315000	0.59172	2.753000	0.94483	0.555000	0.69702	ACA		0.408	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666	
F5	2153	broad.mit.edu	37	1	169521841	169521841	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:169521841C>A	ENST00000367797.3	-	8	1451	c.1250G>T	c.(1249-1251)gGg>gTg	p.G417V	F5_ENST00000367796.3_Missense_Mutation_p.G417V|F5_ENST00000546081.1_Missense_Mutation_p.G280V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	417	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.G417V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACCCAAAATCCCATCTTCTTT	0.353																																					p.G417V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1250T	1						.						148.0	147.0	147.0					1																	169521841		2203	4300	6503	167788465	SO:0001583	missense	2153	exon8			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1250G>T	1.37:g.169521841C>A	ENSP00000356771:p.Gly417Val		167788465	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740067	0.89573	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99176	-5.52;-5.52;-5.52	5.95	5.95	0.96441	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	M	0.90595	3.13	0.46678	D	0.999153	D	0.89917	1.0	D	0.91635	0.999	D	0.98900	1.0776	9	0.87932	D	0	-18.9713	20.3697	0.98890	0.0:1.0:0.0:0.0	.	417	P12259	FA5_HUMAN	V	417;417;280	ENSP00000356771:G417V;ENSP00000356770:G417V;ENSP00000439664:G280V	ENSP00000356770:G417V	G	-	2	0	F5	167788465	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	7.259000	0.78381	2.811000	0.96726	0.655000	0.94253	GGG		0.353	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELE	6401	broad.mit.edu	37	1	169698774	169698774	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:169698774G>A	ENST00000333360.7	-	6	895	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SELE_ENST00000367779.4_Silent_p.F252F|SELE_ENST00000367781.4_Silent_p.F252F|SELE_ENST00000367780.4_Silent_p.F190F|SELE_ENST00000367774.1_Silent_p.F252F|SELE_ENST00000367777.1_Silent_p.F252F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Silent_p.F252F|SELE_ENST00000367775.1_Silent_p.F190F|SELE_ENST00000367776.1_Silent_p.F252F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	252	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.F252F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACATTCCACGAACCCATTGG	0.428																																					p.F252F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	1						.						118.0	112.0	114.0					1																	169698774		2203	4300	6503	167965398	SO:0001819	synonymous_variant	6401	exon6			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.756C>T	1.37:g.169698774G>A			167965398	NM_000450	A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	CCDS1283.1																																																																																				0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
SCYL3	57147	broad.mit.edu	37	1	169831867	169831867	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:169831867G>A	ENST00000367770.1	-	9	1074	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	SCYL3_ENST00000367771.6_Missense_Mutation_p.L343F|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.L343F|RN7SL333P_ENST00000476398.2_RNA			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	343					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.L343F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACAACTGGAGAAGCACGGGG	0.517																																					p.L343F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1027T	1						.						170.0	160.0	163.0					1																	169831867		2203	4300	6503	168098491	SO:0001583	missense	57147	exon10			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1027C>T	1.37:g.169831867G>A	ENSP00000356744:p.Leu343Phe		168098491	NM_181093	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091730	0.55968	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.58	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.067604	0.64402	D	0.000009	T	0.48943	0.1528	M	0.81341	2.54	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.67900	0.954;0.945	T	0.52953	-0.8506	10	0.62326	D	0.03	-12.5653	9.3253	0.37988	0.0742:0.0:0.7841:0.1417	.	343;343	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	F	343	ENSP00000356746:L343F;ENSP00000356745:L343F;ENSP00000356744:L343F;ENSP00000407993:L343F	ENSP00000356744:L343F	L	-	1	0	SCYL3	168098491	1.000000	0.71417	0.130000	0.21974	0.292000	0.27327	5.268000	0.65536	2.618000	0.88619	0.609000	0.83330	CTC		0.517	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	
PRRC2C	23215	broad.mit.edu	37	1	171501678	171501678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:171501678C>T	ENST00000338920.4	+	12	1682	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.A484V|PRRC2C_ENST00000367742.3_Missense_Mutation_p.A484V|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A482V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	482	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.A484V(1)									GCAGCTTGTGCGGAGAAACTG	0.473																																					p.A482V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1445T	1						.						76.0	67.0	70.0					1																	171501678		2203	4297	6500	169768302	SO:0001583	missense	23215	exon12			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1445C>T	1.37:g.171501678C>T	ENSP00000343629:p.Ala482Val		169768302	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180399	0.57800	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	6.02	6.02	0.97574	.	0.000000	0.44688	D	0.000422	T	0.32041	0.0816	M	0.73962	2.25	0.45427	D	0.998406	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.918	T	0.00527	-1.1688	10	0.37606	T	0.19	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	482;484	Q9Y520-4;E7EPN9	.;.	V	484;482;482;484;482;238;240	ENSP00000375928:A484V;ENSP00000410219:A482V;ENSP00000356716:A484V;ENSP00000343629:A482V	ENSP00000343629:A482V	A	+	2	0	PRRC2C	169768302	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	5.475000	0.66787	2.857000	0.98124	0.650000	0.86243	GCG		0.473	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
SUCO	51430	broad.mit.edu	37	1	172547488	172547488	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:172547488A>T	ENST00000263688.3	+	14	1610	c.1391A>T	c.(1390-1392)cAg>cTg	p.Q464L	SUCO_ENST00000608151.1_Missense_Mutation_p.Q616L|SUCO_ENST00000610051.1_Missense_Mutation_p.Q427L|SUCO_ENST00000367723.4_Missense_Mutation_p.Q615L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	464					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.Q616L(1)|p.Q464L(1)									GCTGATTCCCAGTATCACTCA	0.343																																					p.Q464L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1391T	1						.						123.0	118.0	120.0					1																	172547488		2203	4300	6503	170814111	SO:0001583	missense	51430	exon14			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1391A>T	1.37:g.172547488A>T	ENSP00000263688:p.Gln464Leu		170814111	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781334	0.90282	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	N	0.24115	0.695	0.80722	D	1	D;B;D;D	0.76494	0.985;0.157;0.997;0.999	P;B;D;D	0.77557	0.728;0.189;0.98;0.99	T	0.64283	-0.6444	9	0.72032	D	0.01	-9.5457	14.3215	0.66489	1.0:0.0:0.0:0.0	.	427;464;616;464	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	L	616;464	.	ENSP00000263688:Q464L	Q	+	2	0	C1orf9	170814111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.787000	0.91830	2.070000	0.61991	0.460000	0.39030	CAG		0.343	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
TNR	7143	broad.mit.edu	37	1	175372342	175372342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:175372342G>A	ENST00000367674.2	-	4	1618	c.910C>T	c.(910-912)Cga>Tga	p.R304*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R304*			Q92752	TENR_HUMAN	tenascin R	304	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R304*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CATTGTCCTCGCCCACTGCAG	0.612																																					p.R304X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C910T	1						.						100.0	76.0	84.0					1																	175372342		2203	4300	6503	173638965	SO:0001587	stop_gained	7143	exon4			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.910C>T	1.37:g.175372342G>A	ENSP00000356646:p.Arg304*		173638965	NM_003285	C9J563|Q15568|Q5R3G0	Nonsense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	45	11.509987	0.99570	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	6.04	4.07	0.47477	.	0.073533	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1449	0.72643	0.0:0.0:0.7429:0.2571	.	.	.	.	X	304	.	ENSP00000263525:R304X	R	-	1	2	TNR	173638965	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	3.109000	0.50345	1.516000	0.48900	0.561000	0.74099	CGA		0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
FAM163A	148753	broad.mit.edu	37	1	179782263	179782263	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:179782263G>A	ENST00000341785.4	+	4	427	c.31G>A	c.(31-33)Gga>Aga	p.G11R		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	11						integral component of membrane (GO:0016021)		p.G11R(2)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GATCACTGGCGGAATCCTAGC	0.637																																					p.G11R												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G31A	1						.						141.0	106.0	118.0					1																	179782263		2106	4068	6174	178048886	SO:0001583	missense	148753	exon4			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.31G>A	1.37:g.179782263G>A	ENSP00000354891:p.Gly11Arg		178048886	NM_173509	A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486290	0.96323	.	.	ENSG00000143340	ENST00000341785	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.79052	0.4381	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80594	-0.1313	9	0.87932	D	0	-5.7642	19.0451	0.93016	0.0:0.0:1.0:0.0	.	11	Q96GL9	F163A_HUMAN	R	11	.	ENSP00000354891:G11R	G	+	1	0	FAM163A	178048886	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.255000	0.95524	2.579000	0.87056	0.561000	0.74099	GGA		0.637	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509	
STX6	10228	broad.mit.edu	37	1	180959120	180959120	+	Splice_Site	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:180959120C>T	ENST00000258301.5	-	5	726	c.489G>A	c.(487-489)caG>caA	p.Q163Q	STX6_ENST00000469135.1_5'Flank|STX6_ENST00000542060.1_Splice_Site_p.Q62Q	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	163	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)	p.Q163Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						CTTGGGGTACCTGCTGCTGTG	0.542																																					p.Q163Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G489A	1						.						86.0	80.0	82.0					1																	180959120		2203	4300	6503	179225743	SO:0001630	splice_region_variant	10228	exon5			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.489+1G>A	1.37:g.180959120C>T			179225743	NM_005819	B2R652|B4DR17|Q5VY08|Q6FH83	Silent	SNP	ENST00000258301.5	37	CCDS1341.1																																																																																				0.542	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819	Silent
CACNA1E	777	broad.mit.edu	37	1	181680185	181680185	+	Missense_Mutation	SNP	G	G	A	rs370964593		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:181680185G>A	ENST00000367573.2	+	8	1151	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R384H|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R384H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R335H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R335H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R384H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	384	Binding to the beta subunit. {ECO:0000250}.				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.R384H(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						AATGGCTACCGTGCCTGGATA	0.597																																					p.R384H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1151A	1						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,3990		0,0,1995	56.0	61.0	60.0		1151,1151,1151	4.2	0.8	1		60	1,8339		0,1,4169	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,1,6164	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging	384/2271,384/2314,384/2252	181680185	1,12329	1995	4170	6165	179946808	SO:0001583	missense	777	exon8			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.1151G>A	1.37:g.181680185G>A	ENSP00000356545:p.Arg384His		179946808	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487777	0.84854	0.0	1.2E-4	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.15	4.21	0.49690	.	0.301172	0.37530	N	0.002042	D	0.94561	0.8248	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67231	0.95;0.95	D	0.94751	0.7927	10	0.72032	D	0.01	.	14.3736	0.66857	0.0:0.0:0.8507:0.1493	.	384;384	Q15878-2;Q15878-3	.;.	H	384;384;384;335;335;384;384	ENSP00000432038:R384H;ENSP00000356542:R384H;ENSP00000434814:R384H;ENSP00000350183:R335H;ENSP00000351101:R335H;ENSP00000353222:R384H;ENSP00000356545:R384H	ENSP00000350183:R335H	R	+	2	0	CACNA1E	179946808	1.000000	0.71417	0.818000	0.32626	0.923000	0.55619	7.718000	0.84743	1.103000	0.41568	0.655000	0.94253	CGT		0.597	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
ZNF648	127665	broad.mit.edu	37	1	182026083	182026083	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:182026083G>A	ENST00000339948.3	-	2	1270	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	355					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.R355C(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGCATGTTGCGCTGGTGTTTG	0.642																																					p.R355C	NSCLC(71;908 1374 5429 20458 35642)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063T	1						.						101.0	92.0	95.0					1																	182026083		2203	4300	6503	180292706	SO:0001583	missense	127665	exon2			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1063C>T	1.37:g.182026083G>A	ENSP00000344129:p.Arg355Cys		180292706	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921207	0.52653	.	.	ENSG00000179930	ENST00000339948	T	0.25749	1.78	2.64	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43077	0.1231	M	0.85710	2.77	0.50039	D	0.999843	D	0.76494	0.999	P	0.58780	0.845	T	0.38394	-0.9663	9	0.87932	D	0	.	4.9191	0.13860	0.0:0.2414:0.5118:0.2468	.	355	Q5T619	ZN648_HUMAN	C	355	ENSP00000344129:R355C	ENSP00000344129:R355C	R	-	1	0	ZNF648	180292706	.	.	1.000000	0.80357	0.995000	0.86356	.	.	0.617000	0.30160	0.561000	0.74099	CGC		0.642	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
NPL	80896	broad.mit.edu	37	1	182775294	182775294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:182775294G>T	ENST00000367553.1	+	4	201	c.157G>T	c.(157-159)Gga>Tga	p.G53*	NPL_ENST00000367552.2_Nonsense_Mutation_p.G53*|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367555.1_Nonsense_Mutation_p.G53*|NPL_ENST00000258317.2_Nonsense_Mutation_p.G53*|NPL_ENST00000367554.3_5'UTR|NPL_ENST00000367550.2_Nonsense_Mutation_p.G53*	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	53					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.G53*(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TGGCACAACAGGAGAAGGCCT	0.527																																					p.G53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G157T	1						.						107.0	106.0	107.0					1																	182775294		2203	4300	6503	181041917	SO:0001587	stop_gained	80896	exon4			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.157G>T	1.37:g.182775294G>T	ENSP00000356524:p.Gly53*		181041917	NM_030769	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Nonsense_Mutation	SNP	ENST00000367553.1	37	CCDS1350.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866195	0.51588	.	.	ENSG00000135838	ENST00000367555;ENST00000367553;ENST00000367552;ENST00000258317;ENST00000367550	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.3185	15.7916	0.78369	0.0:0.0:1.0:0.0	.	.	.	.	X	53	.	ENSP00000258317:G53X	G	+	1	0	NPL	181041917	1.000000	0.71417	0.947000	0.38551	0.413000	0.31143	6.722000	0.74735	2.451000	0.82905	0.563000	0.77884	GGA		0.527	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	
LAMC1	3915	broad.mit.edu	37	1	183083763	183083763	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:183083763C>T	ENST00000258341.4	+	5	1376	c.1119C>T	c.(1117-1119)aaC>aaT	p.N373N		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	373	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|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-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.N373N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCCAGGATAACACAGATGGCG	0.547																																					p.N373N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119T	1						.						153.0	143.0	146.0					1																	183083763		2203	4300	6503	181350386	SO:0001819	synonymous_variant	3915	exon5			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1119C>T	1.37:g.183083763C>T			181350386	NM_002293	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																				0.547	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
RGL1	23179	broad.mit.edu	37	1	183895311	183895311	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:183895311G>A	ENST00000360851.3	+	18	2370	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	RGL1_ENST00000539189.1_Missense_Mutation_p.R702H|RGL1_ENST00000304685.4_Missense_Mutation_p.R766H|RGL1_ENST00000536277.1_Missense_Mutation_p.R729H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	731	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTCATTTTGCGCAAAAAGAAC	0.453																																					p.R766H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2297A	1						.						109.0	104.0	105.0					1																	183895311		2203	4300	6503	182161934	SO:0001583	missense	23179	exon19			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2192G>A	1.37:g.183895311G>A	ENSP00000354097:p.Arg731His		182161934	NM_015149	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.663003	0.88251	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.37	5.37	0.77165	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.984;0.984;0.984	T	0.41840	-0.9486	10	0.87932	D	0	.	12.4607	0.55731	0.0779:0.0:0.9221:0.0	.	702;729;731;766	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	766;766;729;731;702	ENSP00000303192:R766H;ENSP00000356501:R766H;ENSP00000438662:R729H;ENSP00000354097:R731H;ENSP00000437355:R702H	ENSP00000303192:R766H	R	+	2	0	RGL1	182161934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.289000	0.72696	2.666000	0.90696	0.650000	0.86243	CGC		0.453	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
EDEM3	80267	broad.mit.edu	37	1	184681639	184681639	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:184681639G>T	ENST00000318130.8	-	14	1730	c.1464C>A	c.(1462-1464)atC>atA	p.I488I	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Silent_p.I445I	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	488					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I445I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTTGTAAAGATGTAATCTT	0.299																																					p.I488I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1464A	1						.						70.0	71.0	71.0					1																	184681639		2203	4282	6485	182948262	SO:0001819	synonymous_variant	80267	exon14			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1464C>A	1.37:g.184681639G>T			182948262	NM_025191	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	CCDS1363.2																																																																																				0.299	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191	
RNF2	6045	broad.mit.edu	37	1	185067316	185067316	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:185067316A>T	ENST00000367510.3	+	5	865	c.577A>T	c.(577-579)Agt>Tgt	p.S193C	RNF2_ENST00000367509.4_Missense_Mutation_p.S121C	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	193					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S193C(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AGCAGGCCCTAGTAACAAACG	0.418																																					p.S193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A577T	1						.						154.0	128.0	137.0					1																	185067316		2203	4300	6503	183333939	SO:0001583	missense	6045	exon5			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.577A>T	1.37:g.185067316A>T	ENSP00000356480:p.Ser193Cys		183333939	NM_007212	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356637	0.61293	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T	0.23950	1.88;1.88	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.40543	1.245	0.52501	D	0.999952	P;B	0.51653	0.947;0.021	B;B	0.44044	0.439;0.016	T	0.03287	-1.1052	10	0.62326	D	0.03	-29.1127	15.1305	0.72520	1.0:0.0:0.0:0.0	.	121;193	B3KRH1;Q99496	.;RING2_HUMAN	C	193;121;193	ENSP00000356480:S193C;ENSP00000400722:S193C	ENSP00000356479:S121C	S	+	1	0	RNF2	183333939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.873000	0.75541	1.962000	0.57031	0.482000	0.46254	AGT		0.418	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212	
TRMT1L	81627	broad.mit.edu	37	1	185089326	185089326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:185089326C>T	ENST00000367506.5	-	15	2295	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	TRMT1L_ENST00000367504.3_3'UTR|TRMT1L_ENST00000465827.1_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	676	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.R676H(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGCATCTGTGCGTACACCCAT	0.428																																					p.R676H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2027A	1						.						123.0	123.0	123.0					1																	185089326		2203	4300	6503	183355949	SO:0001583	missense	81627	exon15			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.2027G>A	1.37:g.185089326C>T	ENSP00000356476:p.Arg676His		183355949	NM_030934	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361771	0.95877	.	.	ENSG00000121486	ENST00000367506	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83301	-0.0028	9	0.87932	D	0	-18.4661	20.6634	0.99662	0.0:1.0:0.0:0.0	.	676	Q7Z2T5	TRM1L_HUMAN	H	676	.	ENSP00000356476:R676H	R	-	2	0	TRMT1L	183355949	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.365000	0.79537	2.894000	0.99253	0.655000	0.94253	CGC		0.428	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934	
CFAP74	85452	broad.mit.edu	37	1	1897855	1897855	+	IGR	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:1897855C>A								TMEM52 (47143 upstream) : C1orf222 (21707 downstream)														p.E452D(1)									AGATCTCGGGCTCAGCTAACG	0.612																																					p.E452D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1356T	1						.						49.0	56.0	54.0					1																	1897855		1938	4121	6059	1887715	SO:0001628	intergenic_variant	85452	exon12																															1.37:g.1897855C>A			1887715	NM_001080484		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	c	12.39	1.923091	0.33908	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.87	1.91	0.25777	.	0.501859	0.19066	N	0.123629	T	0.61185	0.2327	M	0.64997	1.995	0.80722	D	1	D;P	0.56035	0.974;0.949	P;P	0.53861	0.736;0.52	T	0.57516	-0.7798	9	0.44086	T	0.13	-4.8261	7.5763	0.27937	0.0:0.7673:0.0:0.2327	.	452;452	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	D	452	.	ENSP00000270720:E452D	E	-	3	2	C1orf222	1887715	0.911000	0.30947	0.244000	0.24202	0.271000	0.26615	1.393000	0.34497	0.349000	0.23975	0.457000	0.33378	GAG	0	0.612								
UBR4	23352	broad.mit.edu	37	1	19479892	19479892	+	Silent	SNP	G	G	A	rs375042914		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:19479892G>A	ENST00000375254.3	-	46	6762	c.6735C>T	c.(6733-6735)aaC>aaT	p.N2245N	UBR4_ENST00000375226.2_Silent_p.N2245N|UBR4_ENST00000375217.2_Silent_p.N2245N|UBR4_ENST00000375267.2_Silent_p.N2245N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2245					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.N2245N(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)		TGTTCTCCACGTTGGCCATGT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		21455	0.0		0.0	False		,,,				2504	0.001				p.N2245N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6735T	1						.						160.0	138.0	145.0					1																	19479892		2203	4300	6503	19352479	SO:0001819	synonymous_variant	23352	exon46			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.6735C>T	1.37:g.19479892G>A			19352479	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																																																																																				0.527	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19513091	19513091	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:19513091C>T	ENST00000375254.3	-	14	1720	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	UBR4_ENST00000375226.2_Missense_Mutation_p.D565N|UBR4_ENST00000375217.2_Missense_Mutation_p.D565N|UBR4_ENST00000375267.2_Missense_Mutation_p.D565N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	565					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.D565N(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)		GTATTGGAGTCGGTGGAGGCG	0.522																																					p.D565N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693A	1						.						61.0	58.0	59.0					1																	19513091		2203	4300	6503	19385678	SO:0001583	missense	23352	exon14			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.1693G>A	1.37:g.19513091C>T	ENSP00000364403:p.Asp565Asn		19385678	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530106	0.96446	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.48836	0.85;0.85;0.8;0.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.65249	-0.6214	10	0.87932	D	0	.	17.7534	0.88441	0.0:1.0:0.0:0.0	.	565	Q5T4S7	UBR4_HUMAN	N	565	ENSP00000364403:D565N;ENSP00000364416:D565N;ENSP00000364365:D565N;ENSP00000364374:D565N	ENSP00000364365:D565N	D	-	1	0	UBR4	19385678	1.000000	0.71417	0.984000	0.44739	0.930000	0.56654	7.250000	0.78287	2.519000	0.84933	0.655000	0.94253	GAC		0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
TPR	7175	broad.mit.edu	37	1	186305629	186305629	+	Splice_Site	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:186305629A>G	ENST00000367478.4	-	33	5000	c.4704T>C	c.(4702-4704)gcT>gcC	p.A1568A		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1568					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.A1569A(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)		GATATTTACCAGCTAAGTGTG	0.363			T	NTRK1	papillary thyroid																																p.A1568A			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4704C	1						.						126.0	113.0	117.0					1																	186305629		1857	4097	5954	184572252	SO:0001630	splice_region_variant	7175	exon33			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.4705+1T>C	1.37:g.186305629A>G			184572252	NM_003292	Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	Silent
CFH	3075	broad.mit.edu	37	1	196645165	196645165	+	Missense_Mutation	SNP	G	G	A	rs373339058		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:196645165G>A	ENST00000359637.2	+	4	459	c.397G>A	c.(397-399)Gga>Aga	p.G133R	CFH_ENST00000439155.2_Missense_Mutation_p.G133R|CFH_ENST00000367429.4_Missense_Mutation_p.G133R			P08603	CFAH_HUMAN	complement factor H	197	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G133R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGACACAGATGGATGGACCAA	0.289																																					p.G133R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	1						.	G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	195.0	180.0	185.0		397,397	5.5	1.0	1		185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CFH	NM_000186.3,NM_001014975.2	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	133/1232,133/450	196645165	1,13005	2203	4300	6503	194911788	SO:0001583	missense	3075	exon4			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.397G>A	1.37:g.196645165G>A	ENSP00000352658:p.Gly133Arg		194911788	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.110358	0.77210	0.0	1.16E-4	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	D;D;D	0.82344	-1.6;-1.6;-1.6	5.5	5.5	0.81552	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.91358	0.7274	M	0.88775	2.98	0.41007	D	0.984971	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;0.997	D	0.89855	0.4012	9	0.17369	T	0.5	.	14.9068	0.70727	0.0:0.0:1.0:0.0	.	133;133;133;133	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	R	133	ENSP00000356399:G133R;ENSP00000402656:G133R;ENSP00000352658:G133R	ENSP00000352658:G133R	G	+	1	0	CFH	194911788	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.152000	0.71812	2.585000	0.87301	0.462000	0.41574	GGA		0.289	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
CFH	3075	broad.mit.edu	37	1	196648784	196648784	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:196648784T>C	ENST00000359637.2	+	5	521	c.459T>C	c.(457-459)aaT>aaC	p.N153N	CFH_ENST00000439155.2_Silent_p.N217N|CFH_ENST00000367429.4_Silent_p.N217N			P08603	CFAH_HUMAN	complement factor H	217	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.N217N(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGTTATAAATGGATCTCCTA	0.299																																					p.N217N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T651C	1						.						48.0	52.0	51.0					1																	196648784		2202	4296	6498	194915407	SO:0001819	synonymous_variant	3075	exon6			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.459T>C	1.37:g.196648784T>C			194915407	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37																																																																																					0.299	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
CFH	3075	broad.mit.edu	37	1	196648845	196648845	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:196648845A>G	ENST00000359637.2	+	5	582	c.520A>G	c.(520-522)Aac>Gac	p.N174D	CFH_ENST00000439155.2_Missense_Mutation_p.N238D|CFH_ENST00000367429.4_Missense_Mutation_p.N238D			P08603	CFAH_HUMAN	complement factor H	238	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.N238D(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATATAAATGTAACATGGGTTA	0.343																																					p.N238D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A712G	1						.						83.0	79.0	80.0					1																	196648845		2201	4299	6500	194915468	SO:0001583	missense	3075	exon6			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.520A>G	1.37:g.196648845A>G	ENSP00000352658:p.Asn174Asp		194915468	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	A	13.87	2.364801	0.41902	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.62232	0.04;0.04;0.04	5.99	-0.558	0.11796	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50701	0.1631	L	0.28274	0.84	0.09310	N	1	P;B;P;B	0.45126	0.807;0.004;0.851;0.018	P;B;P;B	0.51101	0.659;0.004;0.481;0.007	T	0.43605	-0.9381	9	0.13108	T	0.6	.	6.1921	0.20530	0.456:0.3817:0.1623:0.0	.	174;238;238;238	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	D	238;238;238;174	ENSP00000356399:N238D;ENSP00000402656:N238D;ENSP00000352658:N174D	ENSP00000352658:N174D	N	+	1	0	CFH	194915468	0.001000	0.12720	0.002000	0.10522	0.106000	0.19336	-0.022000	0.12480	-0.074000	0.12820	0.533000	0.62120	AAC		0.343	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
PTPRC	5788	broad.mit.edu	37	1	198725092	198725092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:198725092C>T	ENST00000367376.2	+	33	3868	c.3697C>T	c.(3697-3699)Caa>Taa	p.Q1233*	PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q1235*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q1185*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q1074*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q1072*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1233					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q1233*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAGAATGGACAAGTAAAGAA	0.368																																					p.Q1072X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3214T	1						.						96.0	100.0	99.0					1																	198725092		2203	4300	6503	196991715	SO:0001587	stop_gained	5788	exon30			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3697C>T	1.37:g.198725092C>T	ENSP00000356346:p.Gln1233*		196991715	NM_080921	A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	39	7.908000	0.98554	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	5.7	5.7	0.88788	.	0.000000	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.8349	0.96652	0.0:1.0:0.0:0.0	.	.	.	.	X	1235;1185;1233;1072	.	ENSP00000306782:Q1072X	Q	+	1	0	PTPRC	196991715	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	3.206000	0.51098	2.691000	0.91804	0.557000	0.71058	CAA		0.368	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
CAMSAP2	23271	broad.mit.edu	37	1	200817769	200817769	+	Silent	SNP	C	C	T	rs184508081	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:200817769C>T	ENST00000236925.4	+	12	1954	c.1905C>T	c.(1903-1905)gaC>gaT	p.D635D	CAMSAP2_ENST00000358823.2_Silent_p.D624D|CAMSAP2_ENST00000413307.2_Silent_p.D608D			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	635					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.D624D(1)									AAACTATGGACGAAGATTCTT	0.393													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21752	0.0		0.0	False		,,,				2504	0.001				p.D624D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1872T	1						.	C		1,4405	2.1+/-5.4	0,1,2202	126.0	123.0	124.0		1872	-4.8	1.0	1		124	0,8600		0,0,4300	no	coding-synonymous	CAMSAP2	NM_203459.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		624/1479	200817769	1,13005	2203	4300	6503	199084392	SO:0001819	synonymous_variant	23271	exon11			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1905C>T	1.37:g.200817769C>T			199084392	NM_203459	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37																																																																																					0.393	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
IGFN1	91156	broad.mit.edu	37	1	201187671	201187671	+	Silent	SNP	G	G	A	rs376131461		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:201187671G>A	ENST00000335211.4	+	18	9913	c.9783G>A	c.(9781-9783)acG>acA	p.T3261T	IGFN1_ENST00000295591.8_Silent_p.T421T	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	804						nucleus (GO:0005634)|Z disc (GO:0030018)		p.T421T(1)|p.T3261T(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGGTGGACGGTGGCGGACG	0.617																																					p.T3261T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G9783A	1						.	G		0,4406		0,0,2203	70.0	62.0	65.0		9783	-9.5	0.0	1		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGFN1	NM_001164586.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3261/3709	201187671	1,13005	2203	4300	6503	199454294	SO:0001819	synonymous_variant	91156	exon18			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9783G>A	1.37:g.201187671G>A			199454294	NM_001164586	F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343606	0.24339	0.0	1.16E-4	ENSG00000163395	ENST00000412892	.	.	.	4.77	-9.54	0.00572	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.51767	D	0.999938	.	.	.	.	.	.	T	0.58148	-0.7687	4	.	.	.	.	5.185	0.15180	0.3396:0.0998:0.45:0.1107	.	.	.	.	S	679	.	.	G	+	1	0	IGFN1	199454294	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.766000	0.00372	-4.395000	0.00051	-0.258000	0.10820	GGT		0.617	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
KLHL12	59349	broad.mit.edu	37	1	202880303	202880303	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:202880303G>A	ENST00000367261.3	-	5	814	c.596C>T	c.(595-597)gCt>gTt	p.A199V	KLHL12_ENST00000367259.1_5'Flank|KLHL12_ENST00000435533.3_Missense_Mutation_p.A237V	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	199	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)		p.A199V(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTGATGACAGCCTCAAAGAC	0.468																																					p.A199V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C596T	1						.						169.0	158.0	162.0					1																	202880303		2203	4300	6503	201146926	SO:0001583	missense	59349	exon5			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.596C>T	1.37:g.202880303G>A	ENSP00000356230:p.Ala199Val		201146926	NM_021633	A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805260	0.96967	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.73363	-0.74;-0.74;-0.74	5.56	5.56	0.83823	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.983;0.989	D	0.88406	0.3018	10	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	237;237;199	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	V	199;237;237	ENSP00000356230:A199V;ENSP00000416886:A237V;ENSP00000356227:A237V	ENSP00000356227:A237V	A	-	2	0	KLHL12	201146926	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.420000	0.97426	2.778000	0.95560	0.655000	0.94253	GCT		0.468	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633	
CYB5R1	51706	broad.mit.edu	37	1	202935034	202935034	+	Missense_Mutation	SNP	T	T	C	rs371177663		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:202935034T>C	ENST00000367249.4	-	4	400	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	109	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.Y109C(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AAGATCCACATAGCCTTGATC	0.507																																					p.Y109C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A326G	1						.						147.0	123.0	131.0					1																	202935034		2203	4300	6503	201201657	SO:0001583	missense	51706	exon4			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.326A>G	1.37:g.202935034T>C	ENSP00000356218:p.Tyr109Cys		201201657	NM_016243	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.01|17.01	3.278225|3.278225	0.59758|0.59758	.|.	.|.	ENSG00000159348|ENSG00000159348	ENST00000446185|ENST00000367249	.|D	.|0.85339	.|-1.97	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	.|0.073236	.|0.56097	.|D	.|0.000026	D|D	0.93304|0.93304	0.7866|0.7866	M|M	0.89785|0.89785	3.06|3.06	0.50467|0.50467	D|D	0.999877|0.999877	.|D	.|0.76494	.|0.999	.|D	.|0.70935	.|0.971	D|D	0.94425|0.94425	0.7644|0.7644	5|10	.|0.87932	.|D	.|0	-5.4844|-5.4844	14.3256|14.3256	0.66518|0.66518	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|109	.|Q9UHQ9	.|NB5R1_HUMAN	V|C	41|109	.|ENSP00000356218:Y109C	.|ENSP00000356218:Y109C	M|Y	-|-	1|2	0|0	CYB5R1|CYB5R1	201201657|201201657	0.775000|0.775000	0.28604|0.28604	0.992000|0.992000	0.48379|0.48379	0.871000|0.871000	0.50021|0.50021	1.075000|1.075000	0.30716|0.30716	2.273000|2.273000	0.75805|0.75805	0.482000|0.482000	0.46254|0.46254	ATG|TAT		0.507	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243	
PPFIA4	8497	broad.mit.edu	37	1	203024586	203024586	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:203024586C>T	ENST00000447715.2	+	21	2231	c.1790C>T	c.(1789-1791)aCg>aTg	p.T597M	PPFIA4_ENST00000414050.2_Missense_Mutation_p.T326M|PPFIA4_ENST00000599966.1_Missense_Mutation_p.T113M|PPFIA4_ENST00000272198.6_Missense_Mutation_p.T113M|PPFIA4_ENST00000295706.4_Missense_Mutation_p.T113M|PPFIA4_ENST00000367240.2_Missense_Mutation_p.T598M			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	597					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.T744M(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGGAGTCCACGGAGCTCCGC	0.607																																					p.T113M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C338T	1						.						74.0	81.0	79.0					1																	203024586		2101	4213	6314	201291209	SO:0001583	missense	8497	exon3			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1790C>T	1.37:g.203024586C>T	ENSP00000402576:p.Thr597Met		201291209	NM_015053	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.537436	0.96460	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.04	6.04	0.98038	.	0.000000	0.46758	D	0.000274	T	0.61974	0.2390	M	0.83774	2.66	0.52501	D	0.99995	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.72982	0.921;0.956;0.979;0.953	T	0.61603	-0.7029	10	0.52906	T	0.07	-8.429	20.5948	0.99439	0.0:1.0:0.0:0.0	.	326;597;113;113	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	M	598;597;113;326;113	ENSP00000356209:T598M;ENSP00000402576:T597M;ENSP00000295706:T113M;ENSP00000400379:T326M;ENSP00000272198:T113M	ENSP00000272198:T113M	T	+	2	0	PPFIA4	201291209	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	ACG		0.607	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
MAPKAPK2	9261	broad.mit.edu	37	1	206904103	206904103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:206904103C>A	ENST00000367103.3	+	6	955	c.762C>A	c.(760-762)taC>taA	p.Y254*	MAPKAPK2_ENST00000294981.4_Nonsense_Mutation_p.Y254*	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|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)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.Y254*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCATCATGTACATCCTGTGAG	0.577																																					p.Y254X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C762A	1						.						121.0	108.0	113.0					1																	206904103		2203	4300	6503	204970726	SO:0001587	stop_gained	9261	exon6			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.762C>A	1.37:g.206904103C>A	ENSP00000356070:p.Tyr254*		204970726	NM_032960	Q5SY30|Q5SY41|Q8IYD6	Nonsense_Mutation	SNP	ENST00000367103.3	37	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	C	38	7.273982	0.98179	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	.	.	.	5.83	-1.79	0.07932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7056	11.8904	0.52626	0.0:0.4265:0.0:0.5735	.	.	.	.	X	254	.	ENSP00000294981:Y254X	Y	+	3	2	MAPKAPK2	204970726	0.252000	0.23972	0.987000	0.45799	0.995000	0.86356	-0.348000	0.07740	-0.201000	0.10284	-0.140000	0.14226	TAC		0.577	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759	
PFKFB2	5208	broad.mit.edu	37	1	207240955	207240955	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:207240955G>A	ENST00000367080.3	+	9	868	c.744G>A	c.(742-744)caG>caA	p.Q248Q	PFKFB2_ENST00000411990.2_Silent_p.Q150Q|PFKFB2_ENST00000367079.2_Silent_p.Q248Q|PFKFB2_ENST00000545806.1_Silent_p.Q215Q|PFKFB2_ENST00000541914.1_Silent_p.Q62Q	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	248	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)	p.Q248Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TCCACGTCCAGCCTCGCACCA	0.512																																					p.Q248Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G744A	1						.						142.0	134.0	136.0					1																	207240955		2203	4300	6503	205307578	SO:0001819	synonymous_variant	5208	exon9				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.744G>A	1.37:g.207240955G>A			205307578	NM_001018053	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	CCDS31004.1																																																																																				0.512	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1		
PFKFB2	5208	broad.mit.edu	37	1	207243648	207243648	+	Silent	SNP	G	G	A	rs139434104		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:207243648G>A	ENST00000367080.3	+	12	1240	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PFKFB2_ENST00000411990.2_Silent_p.R274R|PFKFB2_ENST00000367079.2_Silent_p.R372R|PFKFB2_ENST00000545806.1_Silent_p.R339R|PFKFB2_ENST00000541914.1_Silent_p.R186R|PFKFB2_ENST00000473310.1_Intron	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	372	Fructose-2,6-bisphosphatase.			R -> L (in Ref. 1; CAA06606). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)	p.R372R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TGGTGCAGCGGCTGGAGCCTG	0.607																																					p.R372R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1116A	1						.						67.0	50.0	56.0					1																	207243648		2203	4300	6503	205310271	SO:0001819	synonymous_variant	5208	exon12				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1116G>A	1.37:g.207243648G>A			205310271	NM_001018053	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	CCDS31004.1																																																																																				0.607	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1		
ATF3	467	broad.mit.edu	37	1	212792728	212792728	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:212792728C>T	ENST00000341491.4	+	4	642	c.377C>T	c.(376-378)gCt>gTt	p.A126V	ATF3_ENST00000366983.1_3'UTR|ATF3_ENST00000366985.1_Missense_Mutation_p.A69V|ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366987.2_Missense_Mutation_p.A126V	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	126	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A126V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	AGTGTGAATGCTGAACTGAAG	0.542																																					p.A126V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C377T	1						.						107.0	96.0	100.0					1																	212792728		2203	4300	6503	210859351	SO:0001583	missense	467	exon4			L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.377C>T	1.37:g.212792728C>T	ENSP00000344352:p.Ala126Val		210859351	NM_001674	Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Missense_Mutation	SNP	ENST00000341491.4	37	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661016	0.67700	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.17	6.17	0.99709	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.237030	0.50627	D	0.000106	T	0.53334	0.1790	L	0.43757	1.38	0.58432	D	0.999999	B	0.27013	0.166	B	0.34093	0.175	T	0.41680	-0.9495	10	0.36615	T	0.2	-23.0147	20.8794	0.99867	0.0:1.0:0.0:0.0	.	126	P18847	ATF3_HUMAN	V	126;126;126;69	ENSP00000355948:A126V;ENSP00000355954:A126V;ENSP00000344352:A126V;ENSP00000355952:A69V	ENSP00000344352:A126V	A	+	2	0	ATF3	210859351	1.000000	0.71417	0.766000	0.31476	0.959000	0.62525	4.733000	0.62036	2.941000	0.99782	0.655000	0.94253	GCT		0.542	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674	
PTPN14	5784	broad.mit.edu	37	1	214557999	214557999	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:214557999G>A	ENST00000366956.5	-	13	1393	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	400					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.S400L(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)		GAAACTTTGCGAGCAGTTGAG	0.537																																					p.S400L	Colon(92;557 1424 24372 34121 40073)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1199T	1						.						116.0	99.0	105.0					1																	214557999		2203	4300	6503	212624622	SO:0001583	missense	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.1199C>T	1.37:g.214557999G>A	ENSP00000355923:p.Ser400Leu		212624622	NM_005401	Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087957	0.55968	.	.	ENSG00000152104	ENST00000366956	T	0.70516	-0.49	5.5	5.5	0.81552	.	0.058318	0.64402	D	0.000001	T	0.61022	0.2314	L	0.38175	1.15	0.80722	D	1	P	0.40681	0.727	B	0.32289	0.143	T	0.64681	-0.6350	10	0.45353	T	0.12	.	19.383	0.94545	0.0:0.0:1.0:0.0	.	400	Q15678	PTN14_HUMAN	L	400	ENSP00000355923:S400L	ENSP00000355923:S400L	S	-	2	0	PTPN14	212624622	1.000000	0.71417	0.964000	0.40570	0.833000	0.47200	9.273000	0.95719	2.587000	0.87381	0.655000	0.94253	TCG		0.537	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
USH2A	7399	broad.mit.edu	37	1	216424356	216424356	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:216424356A>T	ENST00000307340.3	-	12	2442	c.2056T>A	c.(2056-2058)Ttg>Atg	p.L686M	USH2A_ENST00000366942.3_Missense_Mutation_p.L686M|USH2A_ENST00000366943.2_Missense_Mutation_p.L686M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	686	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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.L686M(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)		TCAGGATCCAACTCTTGTAGA	0.468										HNSCC(13;0.011)																											p.L686M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2056A	1						.						155.0	129.0	138.0					1																	216424356		2203	4300	6503	214490979	SO:0001583	missense	7399	exon12			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.2056T>A	1.37:g.216424356A>T	ENSP00000305941:p.Leu686Met		214490979	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694523	0.48202	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.55930	0.49;0.49;0.49	5.26	1.69	0.24217	EGF-like, laminin (4);	0.757148	0.10799	N	0.632858	T	0.61464	0.2349	L	0.61218	1.895	0.24205	N	0.995496	D;D	0.53885	0.963;0.963	P;P	0.56823	0.807;0.771	T	0.49399	-0.8944	10	0.45353	T	0.12	.	8.5064	0.33190	0.7708:0.0:0.2292:0.0	.	686;686	O75445-2;O75445	.;USH2A_HUMAN	M	686	ENSP00000305941:L686M;ENSP00000355910:L686M;ENSP00000355909:L686M	ENSP00000305941:L686M	L	-	1	2	USH2A	214490979	0.999000	0.42202	0.765000	0.31456	0.999000	0.98932	1.483000	0.35497	0.042000	0.15717	0.533000	0.62120	TTG		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
EPRS	2058	broad.mit.edu	37	1	220170634	220170634	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:220170634A>C	ENST00000366923.3	-	18	2501	c.2232T>G	c.(2230-2232)tgT>tgG	p.C744W		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	744	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.C744W(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)	CAGATGTAGTACAATTATTAT	0.358																																					p.C744W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2232G	1						.						80.0	81.0	81.0					1																	220170634		2202	4298	6500	218237257	SO:0001583	missense	2058	exon18			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.2232T>G	1.37:g.220170634A>C	ENSP00000355890:p.Cys744Trp		218237257	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.311761	0.23821	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06528	3.29	5.62	1.99	0.26369	.	0.665349	0.16455	N	0.213685	T	0.03305	0.0096	N	0.08118	0	0.20638	N	0.999874	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.40683	-0.9550	10	0.66056	D	0.02	-7.601	5.8454	0.18663	0.7153:0.1404:0.1443:0.0	.	768;751;744	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	W	744;751;768	ENSP00000355890:C744W	ENSP00000355890:C744W	C	-	3	2	EPRS	218237257	0.061000	0.20836	0.006000	0.13384	0.001000	0.01503	1.916000	0.39986	0.086000	0.17137	-0.316000	0.08728	TGT		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
RAB3GAP2	25782	broad.mit.edu	37	1	220344363	220344363	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:220344363G>A	ENST00000358951.2	-	24	2793	c.2677C>T	c.(2677-2679)Ctg>Ttg	p.L893L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	893					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.L893L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAATCCTCCAGCTGTTTCAGA	0.493																																					p.L893L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2677T	1						.						140.0	132.0	135.0					1																	220344363		2203	4300	6503	218410986	SO:0001819	synonymous_variant	25782	exon24			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2677C>T	1.37:g.220344363G>A			218410986	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	CCDS31028.1																																																																																				0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:220752848G>T	ENST00000366917.4	+	2	470	c.204G>T	c.(202-204)aaG>aaT	p.K68N	MARK1_ENST00000366918.4_Missense_Mutation_p.K68N|MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR					MAP/microtubule affinity-regulating kinase 1									p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433																																					p.K68N												.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|large_intestine(1)	c.G204T	1						.						93.0	88.0	89.0					1																	220752848		2203	4300	6503	218819471	SO:0001583	missense	4139	exon2			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.204G>T	1.37:g.220752848G>T	ENSP00000355884:p.Lys68Asn		218819471	NM_018650		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950206	0.73787	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.66280	1.73;-0.2	5.76	1.78	0.24846	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	0.66436	0.2789	L	0.51422	1.61	0.80722	D	1	P;D;D	0.67145	0.936;0.996;0.994	P;P;P	0.61592	0.736;0.86;0.891	T	0.65067	-0.6258	10	0.87932	D	0	.	7.3879	0.26893	0.4975:0.0:0.5025:0.0	.	68;68;68	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	N	68	ENSP00000355885:K68N;ENSP00000355884:K68N	ENSP00000355884:K68N	K	+	3	2	MARK1	218819471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.967000	0.40491	0.346000	0.23899	0.563000	0.77884	AAG		0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
CNIH3	149111	broad.mit.edu	37	1	224922312	224922312	+	Missense_Mutation	SNP	C	C	T	rs187848266		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:224922312C>T	ENST00000272133.3	+	5	1241	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	120					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)	p.P120L(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TACGACCCACCGGTGGTCATG	0.507																																					p.P120L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C359T	1						.						176.0	139.0	151.0					1																	224922312		2203	4300	6503	222988935	SO:0001583	missense	149111	exon5			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.359C>T	1.37:g.224922312C>T	ENSP00000272133:p.Pro120Leu		222988935	NM_152495		Missense_Mutation	SNP	ENST00000272133.3	37	CCDS1544.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.75	2.031853	0.35797	.	.	ENSG00000143786	ENST00000272133	T	0.40476	1.03	5.16	5.16	0.70880	.	0.112496	0.64402	D	0.000010	T	0.21267	0.0512	N	0.02916	-0.46	0.29610	N	0.847019	B	0.02656	0.0	B	0.04013	0.001	T	0.14090	-1.0485	10	0.72032	D	0.01	-3.4214	12.0539	0.53522	0.0:0.9207:0.0:0.0793	.	120	Q8TBE1	CNIH3_HUMAN	L	120	ENSP00000272133:P120L	ENSP00000272133:P120L	P	+	2	0	CNIH3	222988935	0.260000	0.24053	0.824000	0.32777	0.484000	0.33280	1.654000	0.37334	2.409000	0.81822	0.462000	0.41574	CCG		0.507	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495	
ACBD3	64746	broad.mit.edu	37	1	226340078	226340078	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:226340078C>T	ENST00000366812.5	-	7	1387	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	ACBD3_ENST00000464927.1_5'Flank|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	445	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.V445M(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CTGACATGCACGCTGACAGCA	0.468																																					p.V445M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1333A	1						.						219.0	202.0	208.0					1																	226340078		2203	4300	6503	224406701	SO:0001583	missense	64746	exon7			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1333G>A	1.37:g.226340078C>T	ENSP00000355777:p.Val445Met		224406701	NM_022735	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577718	0.65878	.	.	ENSG00000182827	ENST00000366812	T	0.60299	0.2	5.46	5.46	0.80206	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81245	-0.1020	10	0.87932	D	0	-19.066	19.3089	0.94177	0.0:1.0:0.0:0.0	.	445	Q9H3P7	GCP60_HUMAN	M	445	ENSP00000355777:V445M	ENSP00000355777:V445M	V	-	1	0	ACBD3	224406701	1.000000	0.71417	0.992000	0.48379	0.092000	0.18411	7.426000	0.80270	2.571000	0.86741	0.655000	0.94253	GTG		0.468	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	
CDC42BPA	8476	broad.mit.edu	37	1	227219010	227219010	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:227219010G>A	ENST00000366769.3	-	27	4950	c.3659C>T	c.(3658-3660)gCc>gTc	p.A1220V	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A1192V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A1255V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A1220V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A1233V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A1200V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A1139V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.A1220V(1)|p.A1139V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATGATTGCGGCTGCCTGGGT	0.383																																					p.A1139V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3416T	1						.						103.0	106.0	105.0					1																	227219010		2203	4300	6503	225285633	SO:0001583	missense	8476	exon26			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3659C>T	1.37:g.227219010G>A	ENSP00000355731:p.Ala1220Val		225285633	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033977	0.93575	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57;3.57;3.57	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.996;1.0;1.0;0.998;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.997;0.921;0.998;0.994;0.998;0.987;0.987;0.999	T	0.02581	-1.1138	10	0.87932	D	0	.	19.2936	0.94112	0.0:0.0:1.0:0.0	.	1200;1192;535;117;1139;1220;1255;422	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.;.	V	1220;1139;1220;1255;1192;535;1200;1233	ENSP00000355731:A1220V;ENSP00000355729:A1139V;ENSP00000335341:A1220V;ENSP00000355728:A1255V;ENSP00000355726:A1192V;ENSP00000443275:A1200V;ENSP00000355727:A1233V	ENSP00000335341:A1220V	A	-	2	0	CDC42BPA	225285633	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.869000	0.99810	2.554000	0.86153	0.467000	0.42956	GCC		0.383	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
OBSCN	84033	broad.mit.edu	37	1	228539143	228539143	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:228539143G>A	ENST00000422127.1	+	78	18585	c.18541G>A	c.(18541-18543)Gag>Aag	p.E6181K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E6181K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E7138K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E3300K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E3815K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6181	Ig-like 53.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E6763K(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCTCTACGAGTGTGAGGT	0.642																																					p.E6181K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G18541A	1						.						29.0	35.0	33.0					1																	228539143		1996	4127	6123	226605766	SO:0001583	missense	84033	exon78			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18541G>A	1.37:g.228539143G>A	ENSP00000409493:p.Glu6181Lys		226605766	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.347224|5.347224	0.95807|0.95807	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709|ENST00000441106	T;T;T;T|.	0.72051|.	-0.62;-0.26;-0.62;-0.26|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61248|0.61248	0.2332|0.2332	L|L	0.35723|0.35723	1.085|1.085	0.58432|0.58432	D|D	0.999992|0.999992	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.55768|0.55768	-0.8089|-0.8089	10|5	0.31617|.	T|.	0.26|.	.|.	19.0276|19.0276	0.92939|0.92939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6181;6181|.	Q5VST9;Q5VST9-3|.	OBSCN_HUMAN;.|.	K|Q	6181;6181;3815;3300|797	ENSP00000284548:E6181K;ENSP00000409493:E6181K;ENSP00000355668:E3815K;ENSP00000355670:E3300K|.	ENSP00000284548:E6181K|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226605766|226605766	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.505000|0.505000	0.33919|0.33919	7.313000|7.313000	0.78978|0.78978	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	GAG|CGA		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
EPHA8	2046	broad.mit.edu	37	1	22915717	22915717	+	Intron	SNP	G	G	A	rs199679973		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:22915717G>A	ENST00000166244.3	+	5	1387				EPHA8_ENST00000374644.4_Missense_Mutation_p.V445I|EPHA8_ENST00000538803.1_Missense_Mutation_p.V445I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V445I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGAAACTCCGTCCCGCAGCG	0.667																																					p.V445I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1333A	1						.						35.0	35.0	35.0					1																	22915717		2203	4300	6503	22788304	SO:0001627	intron_variant	2046	exon5			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1315+18G>A	1.37:g.22915717G>A			22788304	NM_001006943	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450212	0.26074	.	.	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01304	5.03;5.03	4.52	0.0827	0.14430	.	.	.	.	.	T	0.00845	0.0028	.	.	.	0.09310	N	1	B	0.26935	0.164	B	0.14023	0.01	T	0.48479	-0.9032	7	.	.	.	.	2.9702	0.05920	0.1737:0.1401:0.5431:0.1431	.	445	P29322-2	.	I	445	ENSP00000363775:V445I;ENSP00000440274:V445I	.	V	+	1	0	EPHA8	22788304	0.000000	0.05858	0.006000	0.13384	0.026000	0.11368	0.211000	0.17474	0.225000	0.20959	0.436000	0.28706	GTC		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
NUP133	55746	broad.mit.edu	37	1	229613423	229613423	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:229613423C>T	ENST00000261396.3	-	13	1768	c.1677G>A	c.(1675-1677)agG>agA	p.R559R	NUP133_ENST00000537506.1_Silent_p.R543R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	559					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R559R(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGGTAACTGCCCTGTCTAGTT	0.438																																					p.R559R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1677A	1						.						88.0	77.0	80.0					1																	229613423		2203	4300	6503	227680046	SO:0001819	synonymous_variant	55746	exon13				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1677G>A	1.37:g.229613423C>T			227680046	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																				0.438	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
GALNT2	2590	broad.mit.edu	37	1	230338890	230338890	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:230338890A>G	ENST00000366672.4	+	3	300	c.228A>G	c.(226-228)gtA>gtG	p.V76V	GALNT2_ENST00000541865.1_5'UTR|GALNT2_ENST00000543760.1_Silent_p.V38V	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	76					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V76V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAGGGAAAGTACGGTGGCCAG	0.517																																					p.V76V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A228G	1						.						141.0	142.0	142.0					1																	230338890		2203	4300	6503	228405513	SO:0001819	synonymous_variant	2590	exon3			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.228A>G	1.37:g.230338890A>G			228405513	NM_004481	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.517	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	
COG2	22796	broad.mit.edu	37	1	230798932	230798932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:230798932C>T	ENST00000366669.4	+	4	461	c.346C>T	c.(346-348)Cga>Tga	p.R116*	COG2_ENST00000534989.1_Nonsense_Mutation_p.R57*|COG2_ENST00000366668.3_Nonsense_Mutation_p.R116*|COG2_ENST00000535166.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	116					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.R116*(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGTTGATGAACGAATGTCTAA	0.328																																					p.R116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C346T	1						.						79.0	83.0	82.0					1																	230798932		2203	4300	6503	228865555	SO:0001587	stop_gained	22796	exon4			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.346C>T	1.37:g.230798932C>T	ENSP00000355629:p.Arg116*		228865555	NM_007357	Q86U99	Nonsense_Mutation	SNP	ENST00000366669.4	37	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	42	9.344932	0.99143	.	.	ENSG00000135775	ENST00000366669;ENST00000366668;ENST00000534989	.	.	.	5.98	5.98	0.97165	.	0.297781	0.38778	N	0.001575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.4793	20.4434	0.99119	0.0:1.0:0.0:0.0	.	.	.	.	X	116;116;57	.	ENSP00000355628:R116X	R	+	1	2	COG2	228865555	0.999000	0.42202	0.995000	0.50966	0.986000	0.74619	3.149000	0.50655	2.838000	0.97847	0.655000	0.94253	CGA		0.328	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	
TTC13	79573	broad.mit.edu	37	1	231059670	231059670	+	Silent	SNP	G	G	A	rs201925182		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:231059670G>A	ENST00000366661.4	-	15	1738	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	TTC13_ENST00000414259.1_Silent_p.D524D|TTC13_ENST00000366662.4_Silent_p.D524D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	577								p.D577D(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCTGGTCTGGGTCAGCAATCC	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21022	0.0		0.0	False		,,,				2504	0.0				p.D577D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1731T	1						.						78.0	77.0	78.0					1																	231059670		2203	4300	6503	229126293	SO:0001819	synonymous_variant	79573	exon15				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1731C>T	1.37:g.231059670G>A			229126293	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	CCDS1588.1																																																																																				0.408	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
EPHB2	2048	broad.mit.edu	37	1	23111064	23111064	+	Silent	SNP	C	C	T	rs375951467		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:23111064C>T	ENST00000400191.3	+	3	324	c.306C>T	c.(304-306)agC>agT	p.S102S	EPHB2_ENST00000374630.3_Silent_p.S102S|EPHB2_ENST00000544305.1_Silent_p.S102S|EPHB2_ENST00000374627.1_Silent_p.S96S|EPHB2_ENST00000374632.3_Silent_p.S102S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	102	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.S102S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCATCCCCAGCGTGCCTGGCT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		21014	0.0		0.0	False		,,,				2504	0.001				p.S102S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306T	1						.	C	,	0,4406		0,0,2203	55.0	49.0	51.0		306,306	-3.9	1.0	1		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHB2	NM_004442.6,NM_017449.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	102/988,102/987	23111064	1,13005	2203	4300	6503	22983651	SO:0001819	synonymous_variant	2048	exon3			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.306C>T	1.37:g.23111064C>T			22983651	NM_017449	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																					0.572	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
HTR1D	3352	broad.mit.edu	37	1	23520215	23520215	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:23520215G>T	ENST00000374619.1	-	1	1007	c.498C>A	c.(496-498)tcC>tcA	p.S166S	HTR1D_ENST00000314113.3_Silent_p.S166S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	166					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)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S166S(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGATGCAGATGGAGATGGCCC	0.592																																					p.S166S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498A	1						.						67.0	68.0	68.0					1																	23520215		2203	4300	6503	23392802	SO:0001819	synonymous_variant	3352	exon1			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.498C>A	1.37:g.23520215G>T			23392802	NM_000864		Silent	SNP	ENST00000374619.1	37	CCDS231.1																																																																																				0.592	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864	
GNPAT	8443	broad.mit.edu	37	1	231406513	231406513	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:231406513C>A	ENST00000366647.4	+	10	1458	c.1289C>A	c.(1288-1290)cCt>cAt	p.P430H	GNPAT_ENST00000366646.3_Missense_Mutation_p.P369H	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	430					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.P430H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GATAATAAACCTGCTGAAGAA	0.458																																					p.P430H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1289A	1						.						133.0	132.0	132.0					1																	231406513		2203	4300	6503	229473136	SO:0001583	missense	8443	exon10			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1289C>A	1.37:g.231406513C>A	ENSP00000355607:p.Pro430His		229473136	NM_014236	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	7.162	0.585877	0.13749	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.66815	-0.23;-0.21;-0.21	4.81	2.9	0.33743	.	0.597516	0.18463	N	0.140459	T	0.60856	0.2301	M	0.62723	1.935	0.19300	N	0.999978	P;B	0.38148	0.62;0.042	B;B	0.38225	0.268;0.013	T	0.55768	-0.8089	10	0.62326	D	0.03	.	7.0665	0.25156	0.0:0.6398:0.184:0.1762	.	369;430	B4DNM9;O15228	.;GNPAT_HUMAN	H	430;369;420	ENSP00000355607:P430H;ENSP00000355606:P369H;ENSP00000411640:P420H	ENSP00000355606:P369H	P	+	2	0	GNPAT	229473136	0.928000	0.31464	0.125000	0.21846	0.123000	0.20343	2.552000	0.45828	0.607000	0.29982	0.467000	0.42956	CCT		0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1		
MTR	4548	broad.mit.edu	37	1	237054505	237054505	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:237054505G>A	ENST00000366577.5	+	29	3474	c.3080G>A	c.(3079-3081)cGg>cAg	p.R1027Q	MTR_ENST00000535889.1_Missense_Mutation_p.R976Q	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1027	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.R1027Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGAAACTCCGGGCCCGGGGT	0.522																																					p.R1027Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3080A	1						.						103.0	110.0	108.0					1																	237054505		2203	4300	6503	235121128	SO:0001583	missense	4548	exon29			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3080G>A	1.37:g.237054505G>A	ENSP00000355536:p.Arg1027Gln		235121128	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056503	0.19907	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.76060	-0.99;-0.99;-0.99	5.48	0.335	0.15953	Vitamin B12-dependent methionine synthase, activation domain (3);	0.611223	0.16869	N	0.196199	T	0.41811	0.1175	N	0.02192	-0.645	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28364	-1.0046	10	0.13853	T	0.58	-0.5001	6.5503	0.22429	0.623:0.1157:0.2613:0.0	.	1027;976;1027	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	Q	881;1027;976;581	ENSP00000355536:R1027Q;ENSP00000441845:R976Q;ENSP00000355535:R581Q	ENSP00000355535:R581Q	R	+	2	0	MTR	235121128	0.000000	0.05858	0.655000	0.29622	0.718000	0.41266	0.114000	0.15520	-0.207000	0.10187	-0.415000	0.06103	CGG		0.522	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	
GALE	2582	broad.mit.edu	37	1	24125202	24125202	+	Missense_Mutation	SNP	T	T	A	rs367768055		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:24125202T>A	ENST00000374497.3	-	4	231	c.140A>T	c.(139-141)gAg>gTg	p.E47V	GALE_ENST00000470383.1_5'UTR	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1			UDP-galactose-4-epimerase									p.E47V(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCGCAGGCTCTCAGGCAGGGA	0.602																																					p.E47V	Colon(17;142 583 2667 10036 24961)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A140T	1						.						32.0	32.0	32.0					1																	24125202		2203	4300	6503	23997789	SO:0001583	missense	2582	exon4			BC050685	CCDS242.1	1p36-p35	2012-10-02	2004-11-17		ENSG00000117308	ENSG00000117308	5.1.3.2	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4116	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 1E, member 1"", ""UDP-glucose 4-epimerase"""	606953	"""galactose-4-epimerase, UDP-"""			8593531, 19027726	Standard	NM_001127621		Approved	SDR1E1	uc009vqo.1	Q14376	OTTHUMG00000002958	ENST00000374497.3:c.140A>T	1.37:g.24125202T>A	ENSP00000363621:p.Glu47Val		23997789	NM_000403		Missense_Mutation	SNP	ENST00000374497.3	37	CCDS242.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652803	0.67472	.	.	ENSG00000117308	ENST00000374497;ENST00000425913;ENST00000445705	D;D;D	0.88741	-2.42;-2.42;-2.42	4.79	4.79	0.61399	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.055779	0.64402	D	0.000001	D	0.87402	0.6168	L	0.52206	1.635	0.80722	D	1	P;B;B	0.37122	0.583;0.451;0.451	B;B;B	0.41202	0.267;0.35;0.35	D	0.87287	0.2296	10	0.45353	T	0.12	-29.3293	14.1556	0.65415	0.0:0.0:0.0:1.0	.	47;47;47	Q5QPP1;Q38G75;Q14376	.;.;GALE_HUMAN	V	47	ENSP00000363621:E47V;ENSP00000393359:E47V;ENSP00000398257:E47V	ENSP00000363621:E47V	E	-	2	0	GALE	23997789	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.282000	0.78630	2.018000	0.59344	0.460000	0.39030	GAG		0.602	GALE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008232.1	NM_000403	
RYR2	6262	broad.mit.edu	37	1	237711822	237711822	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:237711822G>A	ENST00000366574.2	+	26	3315	c.2998G>A	c.(2998-3000)Gca>Aca	p.A1000T	RYR2_ENST00000542537.1_Missense_Mutation_p.A984T|RYR2_ENST00000360064.6_Missense_Mutation_p.A998T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1000	4 X approximate repeats.				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.A998T(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)			GGACAAGTTGGCAGAAAATGC	0.488																																					p.A1000T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2998A	1						.						67.0	63.0	64.0					1																	237711822		1930	4142	6072	235778445	SO:0001583	missense	6262	exon26			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.2998G>A	1.37:g.237711822G>A	ENSP00000355533:p.Ala1000Thr		235778445	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611091	0.96637	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96011	-3.88;-3.88;-3.88	5.51	5.51	0.81932	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000006	D	0.97595	0.9212	M	0.90145	3.09	0.80722	D	1	D	0.57571	0.98	P	0.54174	0.744	D	0.98183	1.0458	10	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	1000	Q92736	RYR2_HUMAN	T	1000;998;984	ENSP00000355533:A1000T;ENSP00000353174:A998T;ENSP00000443798:A984T	ENSP00000353174:A998T	A	+	1	0	RYR2	235778445	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.643000	0.98464	2.738000	0.93877	0.655000	0.94253	GCA		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
WDR64	128025	broad.mit.edu	37	1	241951170	241951170	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:241951170G>A	ENST00000366552.2	+	23	2902	c.2695G>A	c.(2695-2697)Gga>Aga	p.G899R	WDR64_ENST00000437684.2_Missense_Mutation_p.G732R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	899								p.G452R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGCCCTCAATGGACATTATTG	0.378																																					p.G899R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2695A	1						.						159.0	158.0	159.0					1																	241951170		2203	4300	6503	240017793	SO:0001583	missense	128025	exon23			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2695G>A	1.37:g.241951170G>A	ENSP00000355510:p.Gly899Arg		240017793	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.62|17.62	3.434640|3.434640	0.62955|0.62955	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.53423|.	0.95;0.62;0.95|.	5.96|5.96	5.96|5.96	0.96718|0.96718	WD40-repeat-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.70945|0.70945	0.3282|0.3282	M|M	0.71581|0.71581	2.175|2.175	0.32563|0.32563	N|N	0.530883|0.530883	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.75572|0.75572	-0.3271|-0.3271	10|5	0.72032|.	D|.	0.01|.	-20.617|-20.617	17.3148|17.3148	0.87220|0.87220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	899;452|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	R|I	899;732;503|377	ENSP00000355510:G899R;ENSP00000402446:G732R;ENSP00000406656:G503R|.	ENSP00000355510:G899R|.	G|M	+|+	1|3	0|0	WDR64|WDR64	240017793|240017793	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.295000|0.295000	0.27426|0.27426	5.780000|5.780000	0.68956|0.68956	2.827000|2.827000	0.97445|0.97445	0.643000|0.643000	0.83706|0.83706	GGA|ATG		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
CEP170	9859	broad.mit.edu	37	1	243388552	243388552	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:243388552T>A	ENST00000366542.1	-	2	82	c.31A>T	c.(31-33)Agt>Tgt	p.S11C	CEP170_ENST00000366543.1_Missense_Mutation_p.S11C|CEP170_ENST00000366544.1_Missense_Mutation_p.S11C|AC092782.1_ENST00000596590.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	11						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.S11C(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTGCCTCCACTGCTCACCAAA	0.428																																					p.S11C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A31T	1						.						51.0	54.0	53.0					1																	243388552		1938	4155	6093	241455175	SO:0001583	missense	9859	exon2			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.31A>T	1.37:g.243388552T>A	ENSP00000355500:p.Ser11Cys		241455175	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890394	0.91889	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000522191;ENST00000523424;ENST00000522995	T;T;T	0.52983	0.64;0.67;0.67	5.95	5.95	0.96441	SMAD/FHA domain (1);	.	.	.	.	T	0.58061	0.2096	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.85130	0.994;0.997;0.975	T	0.62402	-0.6862	9	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	11;11;11	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	C	11	ENSP00000355500:S11C;ENSP00000355502:S11C;ENSP00000355501:S11C	ENSP00000355500:S11C	S	-	1	0	CEP170	241455175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.955000	0.70306	2.279000	0.76181	0.533000	0.62120	AGT		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
AHCTF1	25909	broad.mit.edu	37	1	247014085	247014085	+	Silent	SNP	C	C	T	rs367694906		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:247014085C>T	ENST00000391829.2	-	33	5346	c.5223G>A	c.(5221-5223)acG>acA	p.T1741T	AHCTF1_ENST00000326225.3_Silent_p.T1750T|AHCTF1_ENST00000366508.1_Silent_p.T1776T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1741	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {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.T1741T(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)			GTTGACCTCTCGTACGAGTTT	0.448																																					p.T1750T	Colon(145;197 1800 4745 15099 26333)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5250A	1						.	C		0,4402		0,0,2201	37.0	35.0	35.0		5250	-7.6	0.0	1		35	1,8551	1.2+/-3.3	0,1,4275	no	coding-synonymous	AHCTF1	NM_015446.4		0,1,6476	TT,TC,CC		0.0117,0.0,0.0077		1750/2276	247014085	1,12953	2201	4276	6477	245080708	SO:0001819	synonymous_variant	25909	exon33				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.5223G>A	1.37:g.247014085C>T			245080708	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																					0.448	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
ZNF496	84838	broad.mit.edu	37	1	247464358	247464358	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:247464358C>T	ENST00000294753.4	-	9	1691	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.P445P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	409					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|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.P409P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCCCACAGTTCGGACACACGT	0.662																																					p.P409P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1227A	1						.																																			245530981	SO:0001819	synonymous_variant	84838	exon9			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1227G>A	1.37:g.247464358C>T			245530981	NM_032752	Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																				0.662	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752	
OR2C3	81472	broad.mit.edu	37	1	247695464	247695464	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:247695464G>A	ENST00000366487.3	-	2	711	c.350C>T	c.(349-351)gCc>gTc	p.A117V	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A116V(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)			GGACATGGTGGCCAGCAGGAC	0.552																																					p.A117V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	1						.						76.0	78.0	78.0					1																	247695464		2203	4300	6503	245762087	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.350C>T	1.37:g.247695464G>A	ENSP00000355443:p.Ala117Val		245762087	NM_198074	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818723	0.71028	.	.	ENSG00000196242	ENST00000366487	T	0.02015	4.5	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	U	0.002039	T	0.05823	0.0152	L	0.42008	1.315	0.32628	N	0.522403	D	0.76494	0.999	P	0.58331	0.837	T	0.36432	-0.9748	10	0.25106	T	0.35	.	14.1051	0.65083	0.0:0.0:1.0:0.0	.	117	Q8N628	OR2C3_HUMAN	V	117	ENSP00000355443:A117V	ENSP00000355443:A117V	A	-	2	0	OR2C3	245762087	0.738000	0.28186	0.891000	0.34965	0.828000	0.46876	4.301000	0.59086	2.249000	0.74217	0.650000	0.86243	GCC		0.552	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074	
OR2W3	343171	broad.mit.edu	37	1	248059483	248059483	+	Missense_Mutation	SNP	G	G	A	rs61756679	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:248059483G>A	ENST00000360358.3	+	1	595	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	OR2W3_ENST00000537741.1_Missense_Mutation_p.V199I	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V199I(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGAAGGCACCGTCTTTGTCCT	0.587													G|||	49	0.00978435	0.034	0.0043	5008	,	,		20640	0.001		0.0	False		,,,				2504	0.0				p.V199I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G595A	1						.	G	ILE/VAL	110,4296	84.4+/-122.9	4,102,2097	165.0	144.0	151.0		595	3.4	0.0	1	dbSNP_129	151	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR2W3	NM_001001957.2	29	4,104,6395	AA,AG,GG		0.0233,2.4966,0.8611	benign	199/315	248059483	112,12894	2203	4300	6503	246126106	SO:0001583	missense	343171	exon1			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.595G>A	1.37:g.248059483G>A	ENSP00000353516:p.Val199Ile		246126106	NM_001001957	Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	CCDS31099.1	16	0.007326007326007326	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	5.486	0.274665	0.10403	0.024966	2.33E-4	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00123	8.7;8.7	5.29	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.233518	0.30028	N	0.010584	T	0.00039	0.0001	N	0.13043	0.29	0.09310	N	1	B	0.19073	0.033	B	0.18263	0.021	T	0.21177	-1.0253	10	0.48119	T	0.1	.	6.2746	0.20973	0.2268:0.136:0.6372:0.0	rs61756679	199	Q7Z3T1	OR2W3_HUMAN	I	199	ENSP00000445853:V199I;ENSP00000353516:V199I	ENSP00000353516:V199I	V	+	1	0	OR2W3	246126106	0.000000	0.05858	0.049000	0.19019	0.091000	0.18340	-0.014000	0.12656	0.812000	0.34326	0.609000	0.83330	GTC		0.587	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957	
OR2AK2	391191	broad.mit.edu	37	1	248129054	248129054	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:248129054A>G	ENST00000366480.3	+	1	520	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I141V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTATGTAGCTATCTGTCACCC	0.433																																					p.I141V	Melanoma(45;390 1181 23848 28461 41504)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A421G	1						.						340.0	307.0	318.0					1																	248129054		2203	4300	6503	246195677	SO:0001583	missense	391191	exon1			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.421A>G	1.37:g.248129054A>G	ENSP00000355436:p.Ile141Val		246195677	NM_001004491	B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	12.30	1.896902	0.33535	.	.	ENSG00000187080	ENST00000366480	T	0.50813	0.73	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.38108	0.1028	L	0.54323	1.7	0.30442	N	0.77615	P	0.36171	0.541	B	0.29353	0.101	T	0.34976	-0.9807	9	0.30078	T	0.28	.	10.5575	0.45125	1.0:0.0:0.0:0.0	.	141	Q8NG84	O2AK2_HUMAN	V	141	ENSP00000355436:I141V	ENSP00000355436:I141V	I	+	1	0	OR2AK2	246195677	0.996000	0.38824	0.310000	0.25168	0.108000	0.19459	4.422000	0.59854	1.371000	0.46172	0.374000	0.22700	ATC		0.433	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491	
OR2L13	284521	broad.mit.edu	37	1	248263147	248263147	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:248263147C>T	ENST00000358120.2	+	2	615	c.470C>T	c.(469-471)gCa>gTa	p.A157V	OR2L13_ENST00000366478.2_Missense_Mutation_p.A157V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A157V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			AACTCCTTGGCACACACAGTC	0.483																																					p.A157V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C470T	1						.						248.0	212.0	224.0					1																	248263147		2203	4300	6503	246329770	SO:0001583	missense	284521	exon3			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.470C>T	1.37:g.248263147C>T	ENSP00000350836:p.Ala157Val		246329770	NM_175911	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	7.925	0.739417	0.15642	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.35789	1.29;1.29	4.21	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.299613	0.24109	N	0.041467	T	0.10637	0.0260	N	0.01424	-0.875	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.17077	-1.0381	10	0.20519	T	0.43	.	2.3977	0.04394	0.2968:0.5027:0.0:0.2005	.	157	Q8N349	OR2LD_HUMAN	V	157	ENSP00000355434:A157V;ENSP00000350836:A157V	ENSP00000350836:A157V	A	+	2	0	OR2L13	246329770	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	0.113000	0.15499	2.138000	0.66242	0.650000	0.86243	GCA		0.483	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
AGRN	375790	broad.mit.edu	37	1	987181	987181	+	Silent	SNP	C	C	T	rs141230823		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:987181C>T	ENST00000379370.2	+	33	5687	c.5637C>T	c.(5635-5637)aaC>aaT	p.N1879N		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1883	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.N1879N(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGTACCTCAACGCTGTGACCG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14694	0.0		0.0	False		,,,				2504	0.0				p.N1879N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5637T	1						.						137.0	108.0	118.0					1																	987181		2203	4300	6503	977044	SO:0001819	synonymous_variant	375790	exon33			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5637C>T	1.37:g.987181C>T			977044	NM_198576	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	CCDS30551.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	2.657	-0.280606	0.05642	.	.	ENSG00000188157	ENST00000419249	.	.	.	4.96	-4.57	0.03421	.	.	.	.	.	T	0.62684	0.2448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63664	-0.6586	4	.	.	.	-10.2737	14.0346	0.64638	0.0:0.1252:0.0:0.8748	.	.	.	.	C	182	.	.	R	+	1	0	AGRN	977044	0.185000	0.23213	0.746000	0.31095	0.323000	0.28346	-0.712000	0.05013	-0.663000	0.05331	0.555000	0.69702	CGC		0.647	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	
WRAP73	49856	broad.mit.edu	37	1	3552544	3552544	+	Silent	SNP	G	G	A	rs549533945		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:3552544G>A	ENST00000270708.7	-	6	640	c.567C>T	c.(565-567)aaC>aaT	p.N189N	WRAP73_ENST00000378322.3_Silent_p.N189N	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	189						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.N189N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						GCACACAGCCGTTTGGGGCCC	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.0				p.N189N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	1						.						89.0	80.0	83.0					1																	3552544		2203	4300	6503	3542404	SO:0001819	synonymous_variant	49856	exon6			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.567C>T	1.37:g.3552544G>A			3542404	NM_017818	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	CCDS48.1																																																																																				0.473	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1		
CHD5	26038	broad.mit.edu	37	1	6181243	6181243	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:6181243C>T	ENST00000262450.3	-	33	4933	c.4834G>A	c.(4834-4836)Gcc>Acc	p.A1612T	CHD5_ENST00000378021.1_Missense_Mutation_p.A469T	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A1612T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTTGCTGGCTGGGCTCTCG	0.652																																					p.A1612T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4834A	1						.						49.0	53.0	52.0					1																	6181243		2203	4300	6503	6103830	SO:0001583	missense	26038	exon33			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4834G>A	1.37:g.6181243C>T	ENSP00000262450:p.Ala1612Thr		6103830	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953700	0.34471	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90620	-2.7;2.25	4.78	4.78	0.61160	.	0.316995	0.23960	U	0.042875	T	0.80889	0.4710	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.001;0.016	B;B	0.11329	0.0;0.006	T	0.61549	-0.7040	10	0.15952	T	0.53	-11.1061	17.2033	0.86912	0.0:1.0:0.0:0.0	.	1612;469	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1612;1128;469;1020;1020;469	ENSP00000262450:A1612T;ENSP00000367260:A469T	ENSP00000262450:A1612T	A	-	1	0	CHD5	6103830	0.042000	0.20092	0.300000	0.25030	0.850000	0.48378	2.544000	0.45761	2.370000	0.80446	0.472000	0.43445	GCC		0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CAMTA1	23261	broad.mit.edu	37	1	7723790	7723790	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:7723790C>A	ENST00000303635.7	+	9	1390	c.1183C>A	c.(1183-1185)Cag>Aag	p.Q395K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q395K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q395K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAGCTTGTCCCAGAGCGCCAC	0.642			T	WWTR1	epitheliod hemangioendothelioma																																p.Q395K			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C1183A	1						.						93.0	90.0	91.0					1																	7723790		2203	4300	6503	7646377	SO:0001583	missense	23261	exon9			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1183C>A	1.37:g.7723790C>A	ENSP00000306522:p.Gln395Lys		7646377	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	19.63	3.863070	0.71949	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.49432	0.78;0.78	5.01	5.01	0.66863	.	0.130324	0.53938	D	0.000059	T	0.64294	0.2585	L	0.53249	1.67	0.58432	D	0.999996	D	0.54964	0.969	D	0.64877	0.93	T	0.66736	-0.5848	10	0.62326	D	0.03	-12.8665	18.3304	0.90267	0.0:1.0:0.0:0.0	.	395	Q9Y6Y1	CMTA1_HUMAN	K	395	ENSP00000306522:Q395K;ENSP00000402561:Q395K	ENSP00000306522:Q395K	Q	+	1	0	CAMTA1	7646377	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.686000	0.84128	2.321000	0.78463	0.543000	0.68304	CAG		0.642	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
CAMTA1	23261	broad.mit.edu	37	1	7798518	7798518	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:7798518C>T	ENST00000303635.7	+	16	4365	c.4158C>T	c.(4156-4158)tgC>tgT	p.C1386C	CAMTA1_ENST00000439411.2_Silent_p.C1386C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C1386C(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGAAGAATGCGGCCAGCCCA	0.522			T	WWTR1	epitheliod hemangioendothelioma																																p.C1386C			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C4158T	1						.						59.0	51.0	54.0					1																	7798518		2203	4300	6503	7721105	SO:0001819	synonymous_variant	23261	exon16			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4158C>T	1.37:g.7798518C>T			7721105	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.407097	0.01155	.	.	ENSG00000171735	ENST00000495233	.	.	.	4.92	4.01	0.46588	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60890	-0.7173	4	.	.	.	-11.2344	11.82	0.52232	0.0:0.8525:0.0:0.1475	.	.	.	.	V	343	.	.	A	+	2	0	CAMTA1	7721105	1.000000	0.71417	0.080000	0.20451	0.055000	0.15305	1.278000	0.33179	1.195000	0.43115	-0.137000	0.14449	GCG		0.522	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
ZNF593	51042	broad.mit.edu	37	1	26497088	26497088	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:26497088C>T	ENST00000374266.5	+	3	399	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000270812.5_Missense_Mutation_p.A127V|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	96					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.P96S(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)		GAGCGTCGAGCCCTACAGTCA	0.602																																					p.P96S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C286T	1						.						79.0	86.0	84.0					1																	26497088		2203	4300	6503	26369675	SO:0001583	missense	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.286C>T	1.37:g.26497088C>T	ENSP00000363384:p.Pro96Ser		26369675	NM_015871	B2R4S0|Q5T2H7	Missense_Mutation	SNP	ENST00000374266.5	37	CCDS275.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.225347|5.225347	0.95173|0.95173	.|.	.|.	ENSG00000142684|ENSG00000142684	ENST00000270812|ENST00000374266	T|T	0.51574|0.53857	0.7|0.6	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.048392	.|0.85682	.|D	.|0.000000	T|T	0.74030|0.74030	0.3663|0.3663	M|M	0.82056|0.82056	2.57|2.57	0.31993|0.31993	N|N	0.604413|0.604413	.|D	.|0.76494	.|0.999	.|D	.|0.71414	.|0.973	T|T	0.79914|0.79914	-0.1602|-0.1602	7|10	0.48119|0.87932	T|D	0.1|0	-11.5983|-11.5983	17.4529|17.4529	0.87597|0.87597	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|96	.|O00488	.|ZN593_HUMAN	V|S	127|96	ENSP00000270812:A127V|ENSP00000363384:P96S	ENSP00000270812:A127V|ENSP00000363384:P96S	A|P	+|+	2|1	0|0	ZNF593|ZNF593	26369675|26369675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.507000|5.507000	0.66999|0.66999	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.602	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871	
SDC3	9672	broad.mit.edu	37	1	31349783	31349783	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:31349783G>T	ENST00000339394.6	-	3	660	c.486C>A	c.(484-486)acC>acA	p.T162T	SDC3_ENST00000336798.7_Silent_p.T104T|SDC3_ENST00000471567.1_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	162	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T162T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTAGCCATGGTAGTGGAGA	0.682																																					p.T162T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486A	1						.						33.0	34.0	34.0					1																	31349783		2203	4298	6501	31122370	SO:0001819	synonymous_variant	9672	exon3			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.486C>A	1.37:g.31349783G>T			31122370	NM_014654	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	CCDS30661.1																																																																																				0.682	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654	
CCDC28B	79140	broad.mit.edu	37	1	32670821	32670821	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:32670821C>T	ENST00000373602.5	+	6	922	c.575C>T	c.(574-576)gCc>gTc	p.A192V	RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_3'UTR|IQCC_ENST00000291358.6_5'Flank|IQCC_ENST00000537469.1_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	192					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCGAGAACGCCGAGCCTGAG	0.617																																					p.A192V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575T	1						.						30.0	37.0	35.0					1																	32670821		2140	4246	6386	32443408	SO:0001583	missense	79140	exon6			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.575C>T	1.37:g.32670821C>T	ENSP00000362704:p.Ala192Val		32443408	NM_024296	A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	CCDS354.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174683	0.78452	.	.	ENSG00000160050	ENST00000373602	T	0.44482	0.92	4.89	4.89	0.63831	.	.	.	.	.	T	0.24353	0.0590	N	0.03608	-0.345	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.08554	-1.0716	9	0.51188	T	0.08	.	16.3811	0.83461	0.0:1.0:0.0:0.0	.	192	Q9BUN5	CC28B_HUMAN	V	192	ENSP00000362704:A192V	ENSP00000362704:A192V	A	+	2	0	CCDC28B	32443408	0.173000	0.23056	0.909000	0.35828	0.985000	0.73830	4.570000	0.60872	2.717000	0.92951	0.561000	0.74099	GCC		0.617	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296	
AK2	204	broad.mit.edu	37	1	33480162	33480162	+	Nonsense_Mutation	SNP	G	G	A	rs200924521		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:33480162G>A	ENST00000480134.1	-	4	412	c.364C>T	c.(364-366)Cga>Tga	p.R122*	AK2_ENST00000467905.1_Silent_p.H153H|AK2_ENST00000373449.2_Silent_p.H153H|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000548033.1_Silent_p.H111H|AK2_ENST00000354858.6_Silent_p.H153H|RP1-117O3.2_ENST00000427524.1_RNA					adenylate kinase 2									p.H153H(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGAACTCCTCGTGGTAGGAAC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19986	0.001		0.0	False		,,,				2504	0.0				p.H153H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	1						.						193.0	203.0	199.0					1																	33480162		2203	4300	6503	33252749	SO:0001587	stop_gained	204	exon5			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000480134.1:c.364C>T	1.37:g.33480162G>A	ENSP00000450109:p.Arg122*		33252749	NM_001625		Silent	SNP	ENST00000480134.1	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.78	2.039921	0.35989	.	.	ENSG00000004455	ENST00000480134	.	.	.	5.29	-9.49	0.00587	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.8132	18.9579	0.92665	0.6799:0.0:0.3201:0.0	.	.	.	.	X	122	.	ENSP00000450109:R122X	R	-	1	2	AK2	33252749	0.000000	0.05858	0.396000	0.26296	0.956000	0.61745	-2.035000	0.01423	-1.884000	0.01119	-1.193000	0.01689	CGA		0.458	AK2-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092189.4	NM_001625	
TRIM62	55223	broad.mit.edu	37	1	33625481	33625481	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:33625481C>T	ENST00000291416.5	-	3	802	c.569G>A	c.(568-570)cGt>cAt	p.R190H	TRIM62_ENST00000543586.1_Missense_Mutation_p.R69H|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	190					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R190H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CTGGCGTTCACGCAGCAGCCG	0.662																																					p.R190H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569A	1						.						39.0	42.0	41.0					1																	33625481		2203	4300	6503	33398068	SO:0001583	missense	55223	exon3			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.569G>A	1.37:g.33625481C>T	ENSP00000291416:p.Arg190His		33398068	NM_018207	B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569016	0.86439	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	T;T	0.44482	0.92;0.92	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.53185	0.72	T	0.21999	-1.0229	10	0.32370	T	0.25	.	15.5154	0.75818	0.0:1.0:0.0:0.0	.	190	Q9BVG3	TRI62_HUMAN	H	190;190;190;69	ENSP00000291416:R190H;ENSP00000441173:R69H	ENSP00000291416:R190H	R	-	2	0	TRIM62	33398068	1.000000	0.71417	0.876000	0.34364	0.543000	0.35085	5.201000	0.65163	2.436000	0.82500	0.655000	0.94253	CGT		0.662	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207	
GJB5	2709	broad.mit.edu	37	1	35223627	35223627	+	Silent	SNP	C	C	T	rs149009509	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:35223627C>T	ENST00000338513.1	+	2	869	c.696C>T	c.(694-696)caC>caT	p.H232H	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	232					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.H232H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				ATCACCCCCACGGTACCACCT	0.572																																					p.H232H												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C696T	1						.	C		1,4405	2.1+/-5.4	0,1,2202	157.0	129.0	138.0		696	2.6	0.0	1	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GJB5	NM_005268.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		232/274	35223627	2,13004	2203	4300	6503	34996214	SO:0001819	synonymous_variant	2709	exon2			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.696C>T	1.37:g.35223627C>T			34996214	NM_005268	Q9UPA3	Silent	SNP	ENST00000338513.1	37	CCDS382.1																																																																																				0.572	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268	
AGO1	26523	broad.mit.edu	37	1	36359409	36359409	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:36359409A>G	ENST00000373204.4	+	5	860	c.647A>G	c.(646-648)gAt>gGt	p.D216G	AGO1_ENST00000373206.1_Missense_Mutation_p.D141G	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	216					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.D216G(1)									CTCAACATTGATGGTGAGTGG	0.607																																					p.D216G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A647G	1						.						65.0	65.0	65.0					1																	36359409		2203	4300	6503	36131996	SO:0001583	missense	26523	exon5			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.647A>G	1.37:g.36359409A>G	ENSP00000362300:p.Asp216Gly		36131996	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138243	0.77775	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.27557	1.94;1.66	5.93	5.93	0.95920	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75025	-0.3463	10	0.72032	D	0.01	-13.327	16.3736	0.83374	1.0:0.0:0.0:0.0	.	216	Q9UL18	AGO1_HUMAN	G	141;216	ENSP00000362302:D141G;ENSP00000362300:D216G	ENSP00000362300:D216G	D	+	2	0	EIF2C1	36131996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.273000	0.75805	0.482000	0.46254	GAT		0.607	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
AGO3	192669	broad.mit.edu	37	1	36520649	36520649	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:36520649C>T	ENST00000373191.4	+	18	2726	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Missense_Mutation_p.R559C	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	793	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)|mRNA catabolic process (GO:0006402)|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)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.R793C(1)									CACTTACGTACGCTGTACACG	0.438																																					p.R559C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1675T	1						.						213.0	161.0	178.0					1																	36520649		2203	4300	6503	36293236	SO:0001583	missense	192669	exon16			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2377C>T	1.37:g.36520649C>T	ENSP00000362287:p.Arg793Cys		36293236	NM_177422	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292477	0.80914	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.34667	1.35;1.35	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.049195	0.85682	D	0.000000	T	0.79215	0.4408	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88296	0.2946	10	0.87932	D	0	-10.4418	19.8389	0.96675	0.0:1.0:0.0:0.0	.	793	Q9H9G7	AGO3_HUMAN	C	793;559	ENSP00000362287:R793C;ENSP00000246314:R559C	ENSP00000246314:R559C	R	+	1	0	EIF2C3	36293236	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.025000	0.70864	2.703000	0.92315	0.655000	0.94253	CGC		0.438	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
GRIK3	2899	broad.mit.edu	37	1	37325498	37325498	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:37325498G>A	ENST00000373091.3	-	6	923	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R303W|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	303				R -> L (in Ref. 3; AAB30157). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R303W(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCCTGCAGCCGCTCCATGGAC	0.612																																					p.R303W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907T	1						.						73.0	78.0	76.0					1																	37325498		2203	4300	6503	37098085	SO:0001583	missense	2899	exon6			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.907C>T	1.37:g.37325498G>A	ENSP00000362183:p.Arg303Trp		37098085	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797724	0.50208	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.7	2.56	0.30785	Extracellular ligand-binding receptor (1);	0.111259	0.64402	D	0.000018	D	0.89192	0.6645	M	0.80183	2.485	0.49130	D	0.999759	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.951	D	0.87195	0.2237	10	0.32370	T	0.25	.	11.5523	0.50726	0.0685:0.0:0.6379:0.2936	.	303;303	A9Z1Z8;Q13003	.;GRIK3_HUMAN	W	303	ENSP00000362183:R303W;ENSP00000362185:R303W	ENSP00000362183:R303W	R	-	1	2	GRIK3	37098085	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.275000	0.33144	0.757000	0.33036	0.655000	0.94253	CGG		0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
MEAF6	64769	broad.mit.edu	37	1	37975061	37975061	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:37975061C>T	ENST00000296214.5	-	3	316	c.289G>A	c.(289-291)Gca>Aca	p.A97T	MEAF6_ENST00000373073.4_Missense_Mutation_p.A97T|MEAF6_ENST00000448519.2_Missense_Mutation_p.A97T|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373074.1_Missense_Mutation_p.A75T|MEAF6_ENST00000373075.2_Missense_Mutation_p.A97T	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	97					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A97T(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						CTTACAGCTGCTGAGGTAACC	0.453																																					p.A97T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289A	1						.						226.0	228.0	228.0					1																	37975061		2203	4300	6503	37747648	SO:0001583	missense	64769	exon3			BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"""Esa1p-associated factor 6 homolog (S. cerevisiae)"", ""centromere protein 28"""	611001	"""chromosome 1 open reading frame 149"""	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.289G>A	1.37:g.37975061C>T	ENSP00000296214:p.Ala97Thr		37747648	NM_022756	B1AK64|Q4F967|Q7Z311|Q86WE3	Missense_Mutation	SNP	ENST00000296214.5	37	CCDS59196.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863442	0.51482	.	.	ENSG00000163875	ENST00000373075;ENST00000296214;ENST00000373074;ENST00000373073;ENST00000448519	.	.	.	4.66	4.66	0.58398	.	0.049401	0.85682	D	0.000000	T	0.51312	0.1667	L	0.29908	0.895	0.54753	D	0.99998	B;B;B;B	0.26445	0.034;0.042;0.082;0.149	B;B;B;B	0.26202	0.017;0.046;0.036;0.067	T	0.46512	-0.9186	9	0.22706	T	0.39	-5.4243	17.5244	0.87795	0.0:1.0:0.0:0.0	.	97;97;97;75	Q9HAF1-2;Q9HAF1;Q9HAF1-3;B1AK63	.;EAF6_HUMAN;.;.	T	97;97;75;97;97	.	ENSP00000296214:A97T	A	-	1	0	MEAF6	37747648	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	5.553000	0.67287	2.304000	0.77564	0.484000	0.47621	GCA		0.453	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012161.1	NM_022756	
CDCA8	55143	broad.mit.edu	37	1	38168962	38168962	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:38168962G>A	ENST00000373055.1	+	7	800	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	CDCA8_ENST00000327331.2_Missense_Mutation_p.R176Q	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	176					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R176Q(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCGTGGGCCGATTGGAGGTG	0.532																																					p.R176Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G527A	1						.						195.0	175.0	182.0					1																	38168962		2203	4300	6503	37941549	SO:0001583	missense	55143	exon8			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.527G>A	1.37:g.38168962G>A	ENSP00000362146:p.Arg176Gln		37941549	NM_018101	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	37	CCDS424.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977085	0.74360	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.48201	0.82;0.82	5.81	5.81	0.92471	.	0.289408	0.37393	N	0.002112	T	0.66336	0.2779	M	0.66939	2.045	0.20489	N	0.999899	D	0.71674	0.998	D	0.79108	0.992	T	0.59994	-0.7349	10	0.40728	T	0.16	-15.3072	15.5657	0.76290	0.0:0.0:1.0:0.0	.	176	Q53HL2	BOREA_HUMAN	Q	176	ENSP00000362146:R176Q;ENSP00000316121:R176Q	ENSP00000316121:R176Q	R	+	2	0	CDCA8	37941549	0.829000	0.29322	0.069000	0.20011	0.046000	0.14306	3.321000	0.51999	2.735000	0.93741	0.637000	0.83480	CGA		0.532	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101	
MANEAL	149175	broad.mit.edu	37	1	38265461	38265461	+	Silent	SNP	C	C	T	rs143262127	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:38265461C>T	ENST00000373045.6	+	4	1341	c.960C>T	c.(958-960)gaC>gaT	p.D320D	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Silent_p.D126D|MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.D98D	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	320						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.D98D(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGGATTTGACGGCATGTACA	0.542													C|||	7	0.00139776	0.0	0.0	5008	,	,		20350	0.0		0.0	False		,,,				2504	0.0072				p.D98D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294T	1						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	108.0	101.0	104.0		,960,294	-3.9	1.0	1	dbSNP_134	104	0,8600		0,0,4300	no	intron,coding-synonymous,coding-synonymous	MANEAL	NM_001031740.2,NM_001113482.1,NM_152496.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,320/458,98/236	38265461	1,13005	2203	4300	6503	38038048	SO:0001819	synonymous_variant	149175	exon2			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.960C>T	1.37:g.38265461C>T			38038048	NM_152496	Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Silent	SNP	ENST00000373045.6	37	CCDS44110.1																																																																																				0.542	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496	
BMP8A	353500	broad.mit.edu	37	1	39988772	39988772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:39988772G>A	ENST00000331593.5	+	6	1388	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	348					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)		p.A348T(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCAACCACGCCATCCTGCA	0.672																																					p.A348T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1042A	1						.						171.0	145.0	154.0					1																	39988772		2203	4300	6503	39761359	SO:0001583	missense	353500	exon6			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.1042G>A	1.37:g.39988772G>A	ENSP00000327440:p.Ala348Thr		39761359	NM_181809	Q5T3A5	Missense_Mutation	SNP	ENST00000331593.5	37	CCDS437.1	.	.	.	.	.	.	.	.	.	.	g	28.0	4.879102	0.91740	.	.	ENSG00000183682	ENST00000331593	D	0.86497	-2.13	4.21	4.21	0.49690	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	U	0.000000	D	0.93936	0.8059	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.94924	0.8076	9	.	.	.	.	15.6867	0.77415	0.0:0.0:1.0:0.0	.	348	Q7Z5Y6	BMP8A_HUMAN	T	348	ENSP00000327440:A348T	.	A	+	1	0	BMP8A	39761359	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.326000	0.96389	2.048000	0.60808	0.455000	0.32223	GCC		0.672	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809	
SCMH1	22955	broad.mit.edu	37	1	41514473	41514473	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:41514473G>A	ENST00000326197.7	-	10	1464	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	SCMH1_ENST00000397174.2_Missense_Mutation_p.R369C|SCMH1_ENST00000372597.1_Missense_Mutation_p.R342C|SCMH1_ENST00000337495.5_Missense_Mutation_p.R399C|SCMH1_ENST00000361191.5_Missense_Mutation_p.R328C|SCMH1_ENST00000372595.1_Missense_Mutation_p.R328C|SCMH1_ENST00000372596.1_Missense_Mutation_p.R328C|SCMH1_ENST00000361705.3_Missense_Mutation_p.R342C|SCMH1_ENST00000456518.2_Missense_Mutation_p.R231C|SCMH1_ENST00000402904.2_Missense_Mutation_p.R389C|SCMH1_ENST00000397171.2_Missense_Mutation_p.R328C					sex comb on midleg homolog 1 (Drosophila)									p.R342C(1)|p.R399C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACAGAGGCACGGGCTGGTCCA	0.522																																					p.R328C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C982T	1						.						168.0	159.0	162.0					1																	41514473		2203	4300	6503	41287060	SO:0001583	missense	22955	exon12			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1165C>T	1.37:g.41514473G>A	ENSP00000318094:p.Arg389Cys		41287060	NM_001172218		Missense_Mutation	SNP	ENST00000326197.7	37	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145636	0.94603	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	6.07	6.07	0.98685	.	0.134457	0.50627	D	0.000102	T	0.67599	0.2910	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.995;0.98;1.0;1.0	P;P;D;D	0.85130	0.636;0.502;0.997;0.99	T	0.65821	-0.6075	10	0.59425	D	0.04	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	231;399;342;389	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	C	342;231;389;369;328;328;342;328;399;328;389	ENSP00000354996:R342C;ENSP00000403974:R231C;ENSP00000386079:R389C;ENSP00000380359:R369C;ENSP00000380356:R328C;ENSP00000354656:R328C;ENSP00000361678:R342C;ENSP00000361677:R328C;ENSP00000337352:R399C;ENSP00000361676:R328C;ENSP00000318094:R389C	ENSP00000318094:R389C	R	-	1	0	SCMH1	41287060	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	6.301000	0.72782	2.885000	0.99019	0.655000	0.94253	CGT		0.522	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1		
HIVEP3	59269	broad.mit.edu	37	1	41979074	41979074	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:41979074G>A	ENST00000372583.1	-	8	6703	c.5818C>T	c.(5818-5820)Ccc>Tcc	p.P1940S	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1940S|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1940S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1940S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1940					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1940S(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCCAGCCAGGGGAGGCCCGGC	0.652																																					p.P1940S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5818T	1						.						20.0	23.0	22.0					1																	41979074		2147	4196	6343	41751661	SO:0001583	missense	59269	exon8			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5818C>T	1.37:g.41979074G>A	ENSP00000361664:p.Pro1940Ser		41751661	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095491	0.36952	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.22	2.04	0.26737	.	0.145914	0.32244	N	0.006371	T	0.03871	0.0109	N	0.24115	0.695	0.35207	D	0.774777	B;B	0.20052	0.041;0.024	B;B	0.12156	0.007;0.003	T	0.38394	-0.9663	10	0.25106	T	0.35	-9.2309	6.2702	0.20951	0.0738:0.1329:0.6558:0.1375	.	1940;1940	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1940	ENSP00000361665:P1940S;ENSP00000361664:P1940S;ENSP00000247584:P1940S;ENSP00000410828:P1940S	ENSP00000247584:P1940S	P	-	1	0	HIVEP3	41751661	1.000000	0.71417	0.915000	0.36163	0.236000	0.25371	2.200000	0.42724	0.660000	0.30964	0.655000	0.94253	CCC		0.652	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
PTPRF	5792	broad.mit.edu	37	1	44085358	44085358	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:44085358C>T	ENST00000359947.4	+	29	5280	c.4940C>T	c.(4939-4941)gCc>gTc	p.A1647V	PTPRF_ENST00000438120.1_Missense_Mutation_p.A1638V|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1647V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1638V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A1006V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1647	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1637V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAGTTGCTGGCCAGCTCCAAG	0.607																																					p.A1638V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4913T	1						.						88.0	76.0	80.0					1																	44085358		2203	4300	6503	43857945	SO:0001583	missense	5792	exon28			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4940C>T	1.37:g.44085358C>T	ENSP00000353030:p.Ala1647Val		43857945	NM_130440	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.75|16.75	3.210771|3.210771	0.58343|0.58343	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.10860|.	2.83;2.83;2.83;2.83;2.83;2.83|.	5.01|5.01	5.01|5.01	0.66863|0.66863	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.34156|.	N|.	0.004219|.	T|T	0.68016|0.68016	0.2955|0.2955	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	P;P;D;B;D|.	0.71674|.	0.508;0.812;0.981;0.018;0.998|.	B;B;P;B;D|.	0.63192|.	0.04;0.33;0.648;0.009;0.912|.	T|T	0.63571|0.63571	-0.6607|-0.6607	10|5	0.56958|.	D|.	0.05|.	.|.	19.2176|19.2176	0.93783|0.93783	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1292;1006;1224;1638;1647|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	V|S	1647;1638;1647;1638;1006;719|1293	ENSP00000353030:A1647V;ENSP00000398822:A1638V;ENSP00000361491:A1647V;ENSP00000361490:A1638V;ENSP00000387885:A1006V;ENSP00000361484:A719V|.	ENSP00000353030:A1647V|.	A|P	+|+	2|1	0|0	PTPRF|PTPRF	43857945|43857945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.787000|0.787000	0.44495|0.44495	6.044000|6.044000	0.71012|0.71012	2.709000|2.709000	0.92574|0.92574	0.555000|0.555000	0.69702|0.69702	GCC|CCA		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
CCDC24	149473	broad.mit.edu	37	1	44457906	44457906	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:44457906T>A	ENST00000372318.3	+	3	320	c.149T>A	c.(148-150)cTc>cAc	p.L50H	CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	50								p.L50H(1)		endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CGGGCACTGCTCCAAGAGGCT	0.637																																					p.L50H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T149A	1						.						81.0	88.0	86.0					1																	44457906		2203	4300	6503	44230493	SO:0001583	missense	149473	exon3				CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.149T>A	1.37:g.44457906T>A	ENSP00000361392:p.Leu50His		44230493	NM_152499	Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	CCDS507.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282731	0.80692	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.12	3.96	0.45880	.	0.100459	0.41823	D	0.000809	T	0.71195	0.3311	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.986	T	0.72030	-0.4413	9	0.87932	D	0	-5.3982	10.1988	0.43071	0.0:0.0:0.1675:0.8325	.	6;50	Q05BG8;Q8N4L8	.;CCD24_HUMAN	H	50	.	ENSP00000361392:L50H	L	+	2	0	CCDC24	44230493	0.411000	0.25384	0.986000	0.45419	0.982000	0.71751	0.589000	0.23939	0.746000	0.32786	0.260000	0.18958	CTC		0.637	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499	
NSUN4	387338	broad.mit.edu	37	1	46827370	46827370	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:46827370T>C	ENST00000474844.1	+	6	1657	c.1007T>C	c.(1006-1008)gTa>gCa	p.V336A	NSUN4_ENST00000537428.1_Missense_Mutation_p.V287A|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.V287A	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	336					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)	p.V336A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGCATCCAGGTACAGGTGGAA	0.478																																					p.V336A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1007C	1						.						307.0	285.0	293.0					1																	46827370		2203	4300	6503	46599957	SO:0001583	missense	387338	exon6			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.1007T>C	1.37:g.46827370T>C	ENSP00000419740:p.Val336Ala		46599957	NM_199044	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	CCDS534.1	.	.	.	.	.	.	.	.	.	.	T	9.120	1.008826	0.19199	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.09630	2.96;2.96;2.96	5.43	4.27	0.50696	.	0.128977	0.52532	D	0.000076	T	0.09202	0.0227	L	0.38733	1.17	0.49130	D	0.999752	B;B	0.13145	0.007;0.005	B;B	0.16289	0.015;0.012	T	0.16012	-1.0417	10	0.24483	T	0.36	-11.3287	11.5821	0.50898	0.0:0.0706:0.0:0.9294	.	203;336	B3KUM0;Q96CB9	.;NSUN4_HUMAN	A	336;287;287	ENSP00000419740:V336A;ENSP00000438912:V287A;ENSP00000437758:V287A	ENSP00000419740:V336A	V	+	2	0	NSUN4	46599957	0.999000	0.42202	0.995000	0.50966	0.372000	0.29890	3.494000	0.53273	2.279000	0.76181	0.533000	0.62120	GTA		0.478	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044	
MOB3C	148932	broad.mit.edu	37	1	47078861	47078861	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:47078861G>A	ENST00000319928.3	-	2	363	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000371940.1_Missense_Mutation_p.R68C|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.R97C	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	45							metal ion binding (GO:0046872)	p.R97C(1)									ACCACACTGCGCAGGTCCAGG	0.607																																					p.R97C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C289T	1						.						85.0	64.0	71.0					1																	47078861		2203	4300	6503	46851448	SO:0001583	missense	148932	exon2			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.133C>T	1.37:g.47078861G>A	ENSP00000315113:p.Arg45Cys		46851448	NM_145279	D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	CCDS540.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443080	0.83993	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.31	4.34	0.51931	.	0.143258	0.64402	D	0.000011	T	0.79493	0.4455	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.83142	-0.0108	9	0.87932	D	0	-24.9318	11.0432	0.47844	0.0:0.0:0.6628:0.3371	.	45	Q70IA8	MOB3C_HUMAN	C	45;97;68	.	ENSP00000271139:R97C	R	-	1	0	MOBKL2C	46851448	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.616000	0.61197	2.490000	0.84030	0.514000	0.50259	CGC		0.607	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279	
CYP4A11	1579	broad.mit.edu	37	1	47407037	47407037	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:47407037G>T	ENST00000310638.4	-	1	100	c.69C>A	c.(67-69)tcC>tcA	p.S23S	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000462347.1_Silent_p.S23S|CYP4A11_ENST00000371905.1_Silent_p.S23S|CYP4A11_ENST00000371904.4_Silent_p.S23S	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	23					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.S23S(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GAATGAGCAGGGAGGCCGCTT	0.607																																					p.S23S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C69A	1						.						104.0	100.0	101.0					1																	47407037		2203	4300	6503	47179624	SO:0001819	synonymous_variant	1579	exon1			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.69C>A	1.37:g.47407037G>T			47179624	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	CCDS543.1																																																																																				0.607	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
NRD1	4898	broad.mit.edu	37	1	52293527	52293527	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:52293527A>G	ENST00000354831.7	-	7	1274	c.1085T>C	c.(1084-1086)tTc>tCc	p.F362S	NRD1_ENST00000352171.7_Missense_Mutation_p.F294S|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.F162S|NRD1_ENST00000539524.1_Missense_Mutation_p.F230S	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	293					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.F362S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGGTGGATGAAGAACTGCGC	0.353																																					p.F362S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1085C	1						.						113.0	98.0	103.0					1																	52293527		2203	4300	6503	52066115	SO:0001583	missense	4898	exon7			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1085T>C	1.37:g.52293527A>G	ENSP00000346890:p.Phe362Ser		52066115	NM_002525	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742421	0.89573	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.27	5.27	0.74061	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.88377	2.95	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	0.74300	-0.3710	10	0.87932	D	0	-7.7999	15.1809	0.72956	1.0:0.0:0.0:0.0	.	294;293;362	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	S	294;362;230;294;162	ENSP00000262679:F294S;ENSP00000346890:F362S;ENSP00000444416:F230S;ENSP00000442262:F162S	ENSP00000262679:F294S	F	-	2	0	NRD1	52066115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.781000	0.91805	1.999000	0.58509	0.459000	0.35465	TTC		0.353	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
ZFYVE9	9372	broad.mit.edu	37	1	52759349	52759349	+	Splice_Site	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:52759349C>T	ENST00000371591.1	+	10	3381	c.3250C>T	c.(3250-3252)Ctt>Ttt	p.L1084F	ZFYVE9_ENST00000287727.3_Splice_Site_p.L1084F|ZFYVE9_ENST00000357206.2_Splice_Site_p.L1025F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1084					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.L1084F(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATATCGACGTAAGTAGTA	0.388																																					p.L1025F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3073T	1						.						56.0	54.0	55.0					1																	52759349		2203	4300	6503	52531937	SO:0001630	splice_region_variant	9372	exon10			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3250+1C>T	1.37:g.52759349C>T			52531937	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846930	0.32606	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.38240	1.17;1.15;1.15	4.8	2.87	0.33458	Domain of unknown function DUF3480 (1);	0.088280	0.47852	D	0.000201	T	0.15305	0.0369	N	0.03050	-0.425	0.47308	D	0.999384	B;B	0.13594	0.003;0.008	B;B	0.15870	0.004;0.014	T	0.04708	-1.0932	10	0.49607	T	0.09	.	8.6775	0.34187	0.0:0.7627:0.0:0.2373	.	1025;1084	O95405-2;O95405	.;ZFYV9_HUMAN	F	1025;1084;1084	ENSP00000349737:L1025F;ENSP00000287727:L1084F;ENSP00000360647:L1084F	ENSP00000287727:L1084F	L	+	1	0	ZFYVE9	52531937	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.343000	0.44001	1.244000	0.43870	0.579000	0.79373	CTT		0.388	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	Missense_Mutation
ZFYVE9	9372	broad.mit.edu	37	1	52811774	52811774	+	Nonsense_Mutation	SNP	C	C	T	rs376516156		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:52811774C>T	ENST00000371591.1	+	18	4290	c.4159C>T	c.(4159-4161)Cag>Tag	p.Q1387*	ZFYVE9_ENST00000287727.3_Nonsense_Mutation_p.Q1387*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.Q1328*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1387					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.Q1387*(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTTCCCTCGCAGTACATGAA	0.547																																					p.Q1328X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3982T	1						.						103.0	97.0	99.0					1																	52811774		2203	4300	6503	52584362	SO:0001587	stop_gained	9372	exon18			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.4159C>T	1.37:g.52811774C>T	ENSP00000360647:p.Gln1387*		52584362	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	42	9.460694	0.99177	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	4.64	4.64	0.57946	.	0.059220	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	17.7132	0.88327	0.0:1.0:0.0:0.0	.	.	.	.	X	1328;1387;1387	.	ENSP00000287727:Q1387X	Q	+	1	0	ZFYVE9	52584362	1.000000	0.71417	0.941000	0.38009	0.890000	0.51754	7.651000	0.83577	2.393000	0.81446	0.655000	0.94253	CAG		0.547	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
SLC1A7	6512	broad.mit.edu	37	1	53580525	53580525	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:53580525G>T	ENST00000371494.4	-	3	463	c.336C>A	c.(334-336)tcC>tcA	p.S112S	SLC1A7_ENST00000371491.4_Silent_p.S112S|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	112					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.S112S(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GGTGGATGATGGAGACCATGA	0.617																																					p.S112S	NSCLC(128;80 1811 21245 38490 51715)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C336A	1						.						122.0	96.0	105.0					1																	53580525		2203	4300	6503	53353113	SO:0001819	synonymous_variant	6512	exon3			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.336C>A	1.37:g.53580525G>T			53353113	NM_006671	Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	CCDS574.1																																																																																				0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	
DMRTB1	63948	broad.mit.edu	37	1	53930456	53930456	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:53930456G>A	ENST00000371445.3	+	3	952	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	299	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P299P(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCCCGCCACCGCCACCACCAC	0.642																																					p.P299P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G897A	1						.						109.0	107.0	107.0					1																	53930456		2203	4300	6503	53703044	SO:0001819	synonymous_variant	63948	exon3			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.897G>A	1.37:g.53930456G>A			53703044	NM_033067	Q96SD2	Silent	SNP	ENST00000371445.3	37	CCDS581.1	.	.	.	.	.	.	.	.	.	.	G	5.574	0.290706	0.10567	.	.	ENSG00000143006	ENST00000431335	.	.	.	4.51	-9.02	0.00741	.	.	.	.	.	T	0.32941	0.0846	.	.	.	0.22292	N	0.999226	.	.	.	.	.	.	T	0.50372	-0.8836	5	0.87932	D	0	-7.7046	6.1596	0.20356	0.1714:0.0:0.4712:0.3574	.	.	.	.	T	130	.	ENSP00000395130:A130T	A	+	1	0	DMRTB1	53703044	0.001000	0.12720	0.015000	0.15790	0.051000	0.14879	-1.863000	0.01651	-2.114000	0.00832	0.462000	0.41574	GCC		0.642	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1		
C1orf168	199920	broad.mit.edu	37	1	57189324	57189324	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:57189324C>A	ENST00000343433.6	-	17	1991	c.1911G>T	c.(1909-1911)aaG>aaT	p.K637N	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	637								p.K637N(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTTTTGCTTCTTGGTTTTGA	0.313																																					p.K637N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1911T	1						.						54.0	52.0	52.0					1																	57189324		2201	4296	6497	56961912	SO:0001583	missense	199920	exon17			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1911G>T	1.37:g.57189324C>A	ENSP00000345972:p.Lys637Asn		56961912	NM_001004303	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570019	0.45798	.	.	ENSG00000187889	ENST00000343433	T	0.38077	1.16	4.74	2.82	0.32997	.	0.000000	0.53938	D	0.000049	T	0.36386	0.0965	M	0.68317	2.08	0.34229	D	0.676277	P	0.49961	0.93	B	0.44044	0.439	T	0.54111	-0.8342	10	0.72032	D	0.01	-11.5604	7.4698	0.27342	0.0:0.7397:0.1691:0.0912	.	637	Q5VWT5	CA168_HUMAN	N	637	ENSP00000345972:K637N	ENSP00000345972:K637N	K	-	3	2	C1orf168	56961912	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	1.158000	0.31737	0.690000	0.31570	0.655000	0.94253	AAG		0.313	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
DAB1	1600	broad.mit.edu	37	1	57611011	57611011	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:57611011G>A	ENST00000371231.1	-	2	193	c.159C>T	c.(157-159)tcC>tcT	p.S53S	DAB1_ENST00000439789.2_Silent_p.S53S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.S53S|DAB1_ENST00000371230.1_Silent_p.S53S|DAB1_ENST00000371234.4_Silent_p.S53S|DAB1_ENST00000414851.2_Silent_p.S53S|DAB1_ENST00000371236.2_Silent_p.S53S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	53	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.S53S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCCGAGCTGCGGAAACTTCAT	0.413																																					p.S53S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C159T	1						.						152.0	132.0	139.0					1																	57611011		2203	4300	6503	57383599	SO:0001819	synonymous_variant	1600	exon5			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.159C>T	1.37:g.57611011G>A			57383599	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37																																																																																					0.413	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
DOCK7	85440	broad.mit.edu	37	1	63119689	63119689	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:63119689A>G	ENST00000340370.5	-	3	303	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R	DOCK7_ENST00000251157.5_Missense_Mutation_p.C96R|DOCK7_ENST00000404627.2_Missense_Mutation_p.C96R	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	96					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.C96R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGAGTTCTGCAGTCCCGAGGA	0.393																																					p.C96R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T286C	1						.						61.0	61.0	61.0					1																	63119689		2203	4300	6503	62892277	SO:0001583	missense	85440	exon3				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.286T>C	1.37:g.63119689A>G	ENSP00000340742:p.Cys96Arg		62892277	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092587	0.76756	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.46819	0.86;0.86;0.86	5.16	5.16	0.70880	.	0.192289	0.64402	D	0.000020	T	0.47377	0.1442	L	0.48218	1.51	0.80722	D	1	P;D;D	0.58268	0.752;0.982;0.961	P;P;P	0.60473	0.477;0.875;0.726	T	0.35895	-0.9770	10	0.29301	T	0.29	.	15.1374	0.72579	1.0:0.0:0.0:0.0	.	96;96;96	Q96NI0;Q96N67-2;Q96N67-5	.;.;.	R	96	ENSP00000251157:C96R;ENSP00000340742:C96R;ENSP00000384446:C96R	ENSP00000251157:C96R	C	-	1	0	DOCK7	62892277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.683000	0.91236	2.162000	0.67917	0.533000	0.62120	TGC		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
JAK1	3716	broad.mit.edu	37	1	65332611	65332611	+	Missense_Mutation	SNP	C	C	T	rs568014073		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:65332611C>T	ENST00000342505.4	-	7	1176	c.928G>A	c.(928-930)Gtt>Att	p.V310I		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	310	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.V310I(2)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAGTAGAGAACGTTTCCACCG	0.403			Mis		ALL								C|||	1	0.000199681	0.0	0.0	5008	,	,		21133	0.001		0.0	False		,,,				2504	0.0				p.V310I			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G928A	1						.						167.0	151.0	156.0					1																	65332611		1962	4152	6114	65105199	SO:0001583	missense	3716	exon7			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.928G>A	1.37:g.65332611C>T	ENSP00000343204:p.Val310Ile		65105199	NM_002227	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	1.303	-0.604370	0.03717	.	.	ENSG00000162434	ENST00000342505	T	0.75050	-0.9	5.59	-7.7	0.01259	FERM domain (1);	.	.	.	.	T	0.25938	0.0632	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15694	-1.0428	9	0.34782	T	0.22	-0.0242	6.326	0.21244	0.0917:0.1964:0.0909:0.621	.	310	P23458	JAK1_HUMAN	I	310	ENSP00000343204:V310I	ENSP00000343204:V310I	V	-	1	0	JAK1	65105199	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.487000	0.00454	-1.574000	0.01657	-0.882000	0.02950	GTT		0.403	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
PTGER3	5733	broad.mit.edu	37	1	71512780	71512780	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:71512780C>T	ENST00000306666.5	-	1	691	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	PTGER3_ENST00000354608.5_Missense_Mutation_p.A161T|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000370932.2_Missense_Mutation_p.A161T|PTGER3_ENST00000351052.5_Missense_Mutation_p.A161T|PTGER3_ENST00000460330.1_Missense_Mutation_p.A161T|PTGER3_ENST00000356595.4_Missense_Mutation_p.A161T|PTGER3_ENST00000370924.4_Missense_Mutation_p.A161T|PTGER3_ENST00000370931.3_Missense_Mutation_p.A161T|PTGER3_ENST00000414819.1_Missense_Mutation_p.A161T	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	161					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.A161T(3)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CAGTGCGGCGCCCTGATGGCC	0.677																																					p.A161T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G481A	1						.						9.0	11.0	10.0					1																	71512780		2188	4266	6454	71285368	SO:0001583	missense	5733	exon1			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.481G>A	1.37:g.71512780C>T	ENSP00000302313:p.Ala161Thr		71285368	NM_198715	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294933	0.60086	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.158268	0.56097	D	0.000028	T	0.22085	0.0532	L	0.31294	0.92	0.46061	D	0.998843	P;P;P;P;P;P;P;P	0.48162	0.906;0.62;0.812;0.906;0.906;0.566;0.566;0.62	P;B;P;P;P;B;B;P	0.49561	0.615;0.318;0.481;0.615;0.615;0.212;0.332;0.462	T	0.01156	-1.1434	10	0.27785	T	0.31	-28.4288	12.0771	0.53649	0.0:0.9217:0.0:0.0783	.	161;161;161;161;161;161;161;161	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	T	161	ENSP00000359969:A161T;ENSP00000359970:A161T;ENSP00000280208:A161T;ENSP00000418073:A161T;ENSP00000346624:A161T;ENSP00000349003:A161T;ENSP00000401423:A161T;ENSP00000302313:A161T;ENSP00000359962:A161T	ENSP00000302313:A161T	A	-	1	0	PTGER3	71285368	0.642000	0.27260	1.000000	0.80357	0.994000	0.84299	1.283000	0.33237	2.643000	0.89663	0.462000	0.41574	GCG		0.677	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
CTBS	1486	broad.mit.edu	37	1	85020800	85020800	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:85020800C>T	ENST00000370630.5	-	7	1088	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	347					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.R347H(1)		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)		GCCCCGTAAGCGATAGTTTTG	0.388																																					p.R347H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	1						.						130.0	127.0	128.0					1																	85020800		2203	4300	6503	84793388	SO:0001583	missense	1486	exon7			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.1040G>A	1.37:g.85020800C>T	ENSP00000359664:p.Arg347His		84793388	NM_004388	Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	CCDS698.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859894	0.51482	.	.	ENSG00000117151	ENST00000370630	T	0.29397	1.57	5.56	4.65	0.58169	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049052	0.85682	D	0.000000	T	0.06781	0.0173	N	0.14661	0.345	0.28365	N	0.920287	P	0.50443	0.935	B	0.31337	0.128	T	0.03898	-1.0994	10	0.62326	D	0.03	-4.6813	14.2588	0.66070	0.0:0.9286:0.0:0.0714	.	347	Q01459	DIAC_HUMAN	H	347	ENSP00000359664:R347H	ENSP00000359659:R256H	R	-	2	0	CTBS	84793388	0.995000	0.38212	0.959000	0.39883	0.251000	0.25915	2.745000	0.47459	1.346000	0.45694	0.650000	0.86243	CGC		0.388	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
COL24A1	255631	broad.mit.edu	37	1	86497595	86497595	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:86497595C>T	ENST00000370571.2	-	14	2381	c.2015G>A	c.(2014-2016)gGt>gAt	p.G672D	COL24A1_ENST00000436319.1_Missense_Mutation_p.G672D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	672	Collagen-like 3.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G672D(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCAGTGCCACCTACAAGTCC	0.328																																					p.G672D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2015A	1						.						81.0	85.0	84.0					1																	86497595		1830	4071	5901	86270183	SO:0001583	missense	255631	exon14			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2015G>A	1.37:g.86497595C>T	ENSP00000359603:p.Gly672Asp		86270183	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691982	0.68271	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99619	-6.28;-6.28	5.87	5.87	0.94306	.	0.000000	0.39146	N	0.001446	D	0.99887	0.9946	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96515	0.9381	10	0.87932	D	0	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	672	Q17RW2	COOA1_HUMAN	D	672	ENSP00000359603:G672D;ENSP00000392531:G672D	ENSP00000359603:G672D	G	-	2	0	COL24A1	86270183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.297000	0.65704	2.941000	0.99782	0.655000	0.94253	GGT		0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
HS2ST1	9653	broad.mit.edu	37	1	87538749	87538749	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:87538749G>A	ENST00000370550.5	+	2	620	c.257G>A	c.(256-258)aGc>aAc	p.S86N	HS2ST1_ENST00000370551.4_Missense_Mutation_p.S86N|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.S60N|HS2ST1_ENST00000356813.4_Missense_Mutation_p.S60N	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	86					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)	p.S86N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAAACGGCAAGCACTTCATTT	0.413																																					p.S86N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	1						.						155.0	135.0	142.0					1																	87538749		2203	4300	6503	87311337	SO:0001583	missense	9653	exon2			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.257G>A	1.37:g.87538749G>A	ENSP00000359581:p.Ser86Asn		87311337	NM_001134492	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	31	5.105045	0.94245	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.94551	0.8245	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.95832	0.8859	10	0.87932	D	0	-31.0923	18.4153	0.90567	0.0:0.0:1.0:0.0	.	86;60	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	N	86;86;60;60	ENSP00000359582:S86N;ENSP00000359581:S86N;ENSP00000359579:S60N;ENSP00000349268:S60N	ENSP00000349268:S60N	S	+	2	0	HS2ST1	87311337	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.657000	0.98554	2.564000	0.86499	0.467000	0.42956	AGC		0.413	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262	
GBP3	2635	broad.mit.edu	37	1	89486296	89486296	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:89486296G>A	ENST00000370481.4	-	2	329	c.109C>T	c.(109-111)Cct>Tct	p.P37S	Y_RNA_ENST00000365515.1_RNA|GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.P37S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ACCACCACAGGCTGTGTAATG	0.507																																					p.P37S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109T	1						.						139.0	128.0	131.0					1																	89486296		2203	4300	6503	89258884	SO:0001583	missense	2635	exon2			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.109C>T	1.37:g.89486296G>A	ENSP00000359512:p.Pro37Ser		89258884	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892352	0.91889	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.62941	-0.01;-0.01	3.04	3.04	0.35103	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.84683	2.71	0.30941	N	0.725864	D	0.76494	0.999	D	0.64237	0.923	T	0.69011	-0.5258	10	0.72032	D	0.01	.	11.8793	0.52564	0.0:0.0:1.0:0.0	.	37	Q9H0R5	GBP3_HUMAN	S	37	ENSP00000359512:P37S;ENSP00000235878:P37S	ENSP00000235878:P37S	P	-	1	0	GBP3	89258884	1.000000	0.71417	0.777000	0.31699	0.966000	0.64601	4.972000	0.63756	1.709000	0.51313	0.508000	0.49915	CCT		0.507	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284	
GBP7	388646	broad.mit.edu	37	1	89616100	89616100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:89616100G>A	ENST00000294671.2	-	6	922	c.784C>T	c.(784-786)Cag>Tag	p.Q262*		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	262	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q262*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GATTGCATCTGGAAATTACTA	0.403																																					p.Q262X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C784T	1						.						125.0	121.0	122.0					1																	89616100		2203	4300	6503	89388688	SO:0001587	stop_gained	388646	exon6			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.784C>T	1.37:g.89616100G>A	ENSP00000294671:p.Gln262*		89388688	NM_207398		Nonsense_Mutation	SNP	ENST00000294671.2	37	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589110	0.86851	.	.	ENSG00000213512	ENST00000294671	.	.	.	3.4	1.12	0.20585	.	0.876500	0.09996	N	0.729115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1731	0.15120	0.0:0.1865:0.3818:0.4317	.	.	.	.	X	262	.	ENSP00000294671:Q262X	Q	-	1	0	GBP7	89388688	0.025000	0.19082	0.004000	0.12327	0.002000	0.02628	0.311000	0.19380	0.598000	0.29829	0.411000	0.27672	CAG		0.403	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	
LRRC8D	55144	broad.mit.edu	37	1	90400652	90400652	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:90400652A>G	ENST00000337338.5	+	3	2432	c.2025A>G	c.(2023-2025)gaA>gaG	p.E675E	LRRC8D_ENST00000394593.3_Silent_p.E675E	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	675					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E675E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAATTGAGGAAATCATCAGTT	0.363																																					p.E675E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2025G	1						.						66.0	68.0	68.0					1																	90400652		2203	4300	6503	90173240	SO:0001819	synonymous_variant	55144	exon3			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2025A>G	1.37:g.90400652A>G			90173240	NM_001134479	D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	CCDS726.1																																																																																				0.363	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
ZNF326	284695	broad.mit.edu	37	1	90473023	90473023	+	Missense_Mutation	SNP	G	G	A	rs201031234		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:90473023G>A	ENST00000340281.4	+	5	472	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	110	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.R110Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGTGGTCGATTTGAGAGC	0.517																																					p.R110Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	1						.						165.0	178.0	174.0					1																	90473023		2203	4300	6503	90245611	SO:0001583	missense	284695	exon5			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.329G>A	1.37:g.90473023G>A	ENSP00000340796:p.Arg110Gln		90245611	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350325	0.61183	.	.	ENSG00000162664	ENST00000394590;ENST00000340281	T	0.46451	0.87	5.7	5.7	0.88788	.	0.121948	0.41097	D	0.000952	T	0.30324	0.0761	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	P	0.52627	0.704	T	0.07139	-1.0788	10	0.38643	T	0.18	-6.9399	19.8093	0.96541	0.0:0.0:1.0:0.0	.	110	Q5BKZ1	ZN326_HUMAN	Q	110	ENSP00000340796:R110Q	ENSP00000340796:R110Q	R	+	2	0	ZNF326	90245611	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.129000	0.77225	2.667000	0.90743	0.655000	0.94253	CGA		0.517	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
HFM1	164045	broad.mit.edu	37	1	91784886	91784886	+	Missense_Mutation	SNP	C	C	T	rs377522857		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:91784886C>T	ENST00000370425.3	-	24	2742	c.2644G>A	c.(2644-2646)Gca>Aca	p.A882T	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.A561T|HFM1_ENST00000294696.5_Missense_Mutation_p.A114T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	882	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A882T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAATCTTTGCGGTATCTTGT	0.338													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16337	0.0		0.0	False		,,,				2504	0.0				p.A882T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2644A	1						.	T	THR/ALA	0,4406		0,0,2203	112.0	107.0	109.0		2644	-8.2	0.0	1		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	HFM1	NM_001017975.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	882/1436	91784886	1,13005	2203	4300	6503	91557474	SO:0001583	missense	164045	exon24			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2644G>A	1.37:g.91784886C>T	ENSP00000359454:p.Ala882Thr		91557474	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	c	5.310	0.242615	0.10077	0.0	1.16E-4	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.60424	0.19;0.19;0.19	5.0	-8.24	0.01029	Sec63 domain (2);	0.716248	0.13408	N	0.390112	T	0.15089	0.0364	N	0.19112	0.55	0.09310	N	1	B;B;B	0.26708	0.014;0.072;0.157	B;B;B	0.24848	0.009;0.056;0.035	T	0.08371	-1.0725	10	0.21540	T	0.41	.	13.6805	0.62481	0.5143:0.4286:0.0:0.0571	.	561;137;882	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	T	882;114;561;566	ENSP00000359454:A882T;ENSP00000294696:A114T;ENSP00000359453:A561T	ENSP00000294696:A114T	A	-	1	0	HFM1	91557474	0.007000	0.16637	0.000000	0.03702	0.239000	0.25481	0.336000	0.19823	-1.908000	0.01086	-0.834000	0.03071	GCA		0.338	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
TGFBR3	7049	broad.mit.edu	37	1	92224194	92224194	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:92224194G>T	ENST00000525962.1	-	3	421	c.360C>A	c.(358-360)gcC>gcA	p.A120A	TGFBR3_ENST00000212355.4_Silent_p.A120A|TGFBR3_ENST00000370399.2_Silent_p.A120A|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	120					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.A120A(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)		AGACCCCAGTGGCAAGTCTCT	0.488																																					p.A120A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360A	1						.						134.0	135.0	134.0					1																	92224194		2203	4300	6503	91996782	SO:0001819	synonymous_variant	7049	exon4			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.360C>A	1.37:g.92224194G>T			91996782	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	CCDS30770.1																																																																																				0.488	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
ABCA4	24	broad.mit.edu	37	1	94548990	94548990	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:94548990G>A	ENST00000370225.3	-	7	862	c.776C>T	c.(775-777)aCa>aTa	p.T259I	ABCA4_ENST00000535735.1_Missense_Mutation_p.T259I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	259					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.T259I(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)		GTCTAGGAGTGTGGGAAGCTG	0.363																																					p.T259I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776T	1						.						155.0	169.0	164.0					1																	94548990		2203	4300	6503	94321578	SO:0001583	missense	24	exon7			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.776C>T	1.37:g.94548990G>A	ENSP00000359245:p.Thr259Ile		94321578	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256791	0.22965	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91464	-2.72;-2.85	5.59	2.48	0.30137	.	0.597033	0.13039	U	0.418672	T	0.76543	0.4002	L	0.33485	1.01	0.40346	D	0.979085	B;B	0.14438	0.01;0.004	B;B	0.14023	0.01;0.005	T	0.69018	-0.5256	10	0.35671	T	0.21	.	11.2629	0.49093	0.0:0.1193:0.6101:0.2706	.	259;259	F5H6E5;P78363	.;ABCA4_HUMAN	I	259	ENSP00000359245:T259I;ENSP00000437682:T259I	ENSP00000359245:T259I	T	-	2	0	ABCA4	94321578	0.991000	0.36638	0.998000	0.56505	0.962000	0.63368	1.311000	0.33562	0.798000	0.33994	0.655000	0.94253	ACA		0.363	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94564522	94564522	+	Missense_Mutation	SNP	G	G	A	rs145065936	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:94564522G>A	ENST00000370225.3	-	6	682	c.596C>T	c.(595-597)gCg>gTg	p.A199V	ABCA4_ENST00000535735.1_Missense_Mutation_p.A199V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	199					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.A199V(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)		GTCCTTCAGCGCCAGGTCCGG	0.607													G|||	13	0.00259585	0.0098	0.0	5008	,	,		18184	0.0		0.0	False		,,,				2504	0.0				p.A199V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C596T	1						.	G	VAL/ALA	8,4398	12.9+/-30.5	0,8,2195	33.0	32.0	33.0		596	-3.8	0.5	1	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCA4	NM_000350.2	64	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	benign	199/2274	94564522	9,12997	2203	4300	6503	94337110	SO:0001583	missense	24	exon6			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.596C>T	1.37:g.94564522G>A	ENSP00000359245:p.Ala199Val		94337110	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	G	13.40	2.225604	0.39300	0.001816	1.16E-4	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91237	-2.7;-2.81	5.83	-3.79	0.04320	.	1.562030	0.02972	N	0.144538	T	0.54447	0.1859	N	0.02011	-0.69	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.10450	0.005;0.001	T	0.57917	-0.7728	10	0.27082	T	0.32	.	6.436	0.21823	0.2511:0.0:0.5257:0.2233	.	199;199	F5H6E5;P78363	.;ABCA4_HUMAN	V	199	ENSP00000359245:A199V;ENSP00000437682:A199V	ENSP00000359245:A199V	A	-	2	0	ABCA4	94337110	0.015000	0.18098	0.479000	0.27329	0.914000	0.54420	0.421000	0.21280	-0.550000	0.06183	0.563000	0.77884	GCG		0.607	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCD3	5825	broad.mit.edu	37	1	94964222	94964222	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:94964222G>A	ENST00000370214.4	+	17	1475	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	ABCD3_ENST00000536817.1_Missense_Mutation_p.R411H|ABCD3_ENST00000454898.2_Missense_Mutation_p.R508H|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.R374H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	484	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R484H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCACTTTTCCGTGTTCTTGGT	0.363																																					p.R484H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1451A	1						.						135.0	131.0	133.0					1																	94964222		2203	4300	6503	94736810	SO:0001583	missense	5825	exon17			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1451G>A	1.37:g.94964222G>A	ENSP00000359233:p.Arg484His		94736810	NM_002858	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088436	0.94100	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32	5.85	5.85	0.93711	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.97110	1.0;0.674;1.0	D	0.96841	0.9618	10	0.87932	D	0	-12.0121	20.1634	0.98142	0.0:0.0:1.0:0.0	.	508;374;484	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	H	374;508;411;484	ENSP00000377780:R374H;ENSP00000403357:R508H;ENSP00000440692:R411H;ENSP00000359233:R484H	ENSP00000359233:R484H	R	+	2	0	ABCD3	94736810	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.035000	0.93752	2.773000	0.95371	0.655000	0.94253	CGT		0.363	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	
DPYD	1806	broad.mit.edu	37	1	97544630	97544630	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:97544630T>C	ENST00000370192.3	-	23	3080	c.2980A>G	c.(2980-2982)Agt>Ggt	p.S994G		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	994	4Fe-4S ferredoxin-type 3. {ECO:0000255|PROSITE-ProRule:PRU00711}.				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.S994G(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)	GGGCAAACACTGAGACACAGA	0.463																																					p.S994G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2980G	1						.						226.0	212.0	217.0					1																	97544630		2203	4300	6503	97317218	SO:0001583	missense	1806	exon23			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.2980A>G	1.37:g.97544630T>C	ENSP00000359211:p.Ser994Gly		97317218	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291034	0.80914	.	.	ENSG00000188641	ENST00000370192	D	0.90444	-2.67	5.46	4.32	0.51571	4Fe-4S ferredoxin, iron-sulphur binding, conserved site (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.043916	0.85682	D	0.000000	D	0.88459	0.6442	N	0.25094	0.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90457	0.4443	10	0.87932	D	0	-12.728	11.7924	0.52078	0.1387:0.0:0.0:0.8613	.	994	Q12882	DPYD_HUMAN	G	994	ENSP00000359211:S994G	ENSP00000359211:S994G	S	-	1	0	DPYD	97317218	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.299000	0.72770	0.989000	0.38761	0.459000	0.35465	AGT		0.463	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PLPPR4	9890	broad.mit.edu	37	1	99766479	99766479	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:99766479C>T	ENST00000370185.3	+	5	1246	c.749C>T	c.(748-750)tCt>tTt	p.S250F	LPPR4_ENST00000457765.1_Missense_Mutation_p.S250F|LPPR4_ENST00000370184.1_Missense_Mutation_p.S92F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		250					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.S250F(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)		TCCTTCCCTTCTCAACATGCA	0.388																																					p.S250F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C749T	1						.						303.0	274.0	284.0					1																	99766479		2203	4300	6503	99539067	SO:0001583	missense	9890	exon5																														ENST00000370185.3:c.749C>T	1.37:g.99766479C>T	ENSP00000359204:p.Ser250Phe		99539067	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877993	0.91664	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	D;D;D	0.99005	-5.32;-5.32;-5.32	5.31	5.31	0.75309	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98115	1.0422	10	0.87932	D	0	-22.5462	19.3304	0.94283	0.0:1.0:0.0:0.0	.	250;250	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	F	250;250;250;92	ENSP00000359204:S250F;ENSP00000394913:S250F;ENSP00000359203:S92F	ENSP00000263178:S250F	S	+	2	0	RP4-788L13.1	99539067	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.645000	0.89757	0.591000	0.81541	TCT		0.388	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
SLC25A24	29957	broad.mit.edu	37	1	108700183	108700183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:108700183delT	ENST00000565488.1	-	5	789	c.570delA	c.(568-570)aaafs	p.K190fs	SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	190					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.K171fs*29(1)|p.K190fs*29(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATTGTCCGGATTTTTTTTCGT	0.453																																					p.K190fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.570delA	1						.		,	1,4265		0,1,2132	106.0	100.0	102.0		,	2.6	0.0	1		103	0,8254		0,0,4127	no	frameshift,frameshift	SLC25A24	NM_213651.1,NM_013386.3	,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,	,	108700183	1,12519	2203	4300	6503	108501706	SO:0001589	frameshift_variant	29957	exon5			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.570delA	1.37:g.108700183delT	ENSP00000457733:p.Lys190fs		108501706	NM_013386	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Frame_Shift_Del	DEL	ENST00000565488.1	37	CCDS41361.1																																																																																				0.453	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386	
SYCP1	6847	broad.mit.edu	37	1	115527421	115527421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:115527421delA	ENST00000369522.3	+	30	2875	c.2635delA	c.(2635-2637)aaafs	p.K881fs	SYCP1_ENST00000477590.1_Intron|SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K881fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	881					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.K881fs*21(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)		TGAAGAAAGTAAAAAAAAGAG	0.264																																					p.K879fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2635delA	1						.						57.0	65.0	62.0					1																	115527421		2201	4283	6484	115328944	SO:0001589	frameshift_variant	6847	exon30			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.2635delA	1.37:g.115527421delA	ENSP00000358535:p.Lys881fs		115328944	NM_003176	O14963|Q5VXJ6	Frame_Shift_Del	DEL	ENST00000369522.3	37	CCDS879.1																																																																																				0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
THEM5	284486	broad.mit.edu	37	1	151823532	151823532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:151823532delG	ENST00000368817.5	-	3	592	c.461delC	c.(460-462)ccafs	p.P154fs	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	154					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.P154fs*12(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTTACCCTGGGGGCCCCTC	0.572																																					p.P154fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.461delC	1						.						48.0	43.0	45.0					1																	151823532		2203	4300	6503	150090156	SO:0001589	frameshift_variant	284486	exon3			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.461delC	1.37:g.151823532delG	ENSP00000357807:p.Pro154fs		150090156	NM_182578	Q5T1C3	Frame_Shift_Del	DEL	ENST00000368817.5	37	CCDS1005.1																																																																																				0.572	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578	
NTRK1	4914	broad.mit.edu	37	1	156834203	156834203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:156834203delG	ENST00000524377.1	+	2	311	c.270delG	c.(268-270)ctgfs	p.L90fs	NTRK1_ENST00000392302.2_Frame_Shift_Del_p.L60fs|NTRK1_ENST00000368196.3_Frame_Shift_Del_p.L90fs|NTRK1_ENST00000358660.3_Frame_Shift_Del_p.L90fs	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	90					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E62fs*2(1)|p.E92fs*2(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGAGGGGCCTGGGGGAGCTGA	0.627			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											p.L90fs			Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.270delG	1						.						68.0	67.0	67.0					1																	156834203		2203	4300	6503	155100827	SO:0001589	frameshift_variant	4914	exon2			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.270delG	1.37:g.156834203delG	ENSP00000431418:p.Leu90fs		155100827	NM_001012331	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Frame_Shift_Del	DEL	ENST00000524377.1	37	CCDS1161.1																																																																																				0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
C1orf106	55765	broad.mit.edu	37	1	200860730	200860730	+	Frame_Shift_Del	DEL	G	G	-	rs200890960		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:200860730delG	ENST00000367342.4	+	1	262	c.62delG	c.(61-63)cggfs	p.R21fs		NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	21								p.E23fs*90(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGGAGGCTCGGGGGGAGGGA	0.627																																					p.R21fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.62delG	1						.						25.0	29.0	27.0					1																	200860730		2203	4300	6503	199127353	SO:0001589	frameshift_variant	55765	exon1			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.62delG	1.37:g.200860730delG	ENSP00000356311:p.Arg21fs		199127353	NM_018265	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37																																																																																					0.627	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265	
OR2T33	391195	broad.mit.edu	37	1	248436655	248436655	+	Silent	SNP	C	C	T	rs140771747		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr1:248436655C>T	ENST00000318021.2	-	1	483	c.462G>A	c.(460-462)ggG>ggA	p.G154G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G154G(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTGCAGGAGCCCGTCAGCTG	0.587																																					p.G154G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G462A	1						.						98.0	95.0	96.0					1																	248436655		2203	4300	6503	246503278	SO:0001819	synonymous_variant	391195	exon1				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.462G>A	1.37:g.248436655C>T			246503278	NM_001004695	B2RNN0	Silent	SNP	ENST00000318021.2	37	CCDS31109.1																																																																																				0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
PSMF1	9491	broad.mit.edu	37	20	1099470	1099470	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:1099470G>C	ENST00000335877.6	+	1	230	c.54G>C	c.(52-54)agG>agC	p.R18S	PSMF1_ENST00000246015.4_Missense_Mutation_p.R18S|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Missense_Mutation_p.R18S|PSMF1_ENST00000438768.2_Missense_Mutation_p.R18S	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	18	Important for homodimerization and interaction with FBXO7.				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)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|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 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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.R18S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TCACCTGCAGGCAGGACGCGC	0.662																																					p.R18S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G54C	20						.						69.0	60.0	63.0					20																	1099470		2203	4300	6503	1047470	SO:0001583	missense	9491	exon1			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.54G>C	20.37:g.1099470G>C	ENSP00000338039:p.Arg18Ser		1047470	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398165	0.42512	.	.	ENSG00000125818	ENST00000333082;ENST00000381899;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.26	0.897	0.19258	.	0.432661	0.22141	N	0.064058	T	0.15262	0.0368	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.09377	0.002;0.003;0.004	T	0.04128	-1.0975	10	0.32370	T	0.25	-0.0031	6.4162	0.21717	0.1982:0.1642:0.6376:0.0	.	18;18;18	E7ER20;Q5QPM7;Q92530	.;.;PSMF1_HUMAN	S	18	ENSP00000327704:R18S;ENSP00000371324:R18S;ENSP00000246015:R18S;ENSP00000338039:R18S;ENSP00000401404:R18S	ENSP00000246015:R18S	R	+	3	2	PSMF1	1047470	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	0.582000	0.23834	0.401000	0.25424	0.411000	0.27672	AGG		0.662	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578	
DEFB129	140881	broad.mit.edu	37	20	210033	210033	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:210033A>C	ENST00000246105.4	+	2	204	c.173A>C	c.(172-174)aAa>aCa	p.K58T		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	58					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.K58T(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GTTGGACCAAAAGTGGTTAAA	0.378																																					p.K58T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A173C	20						.						102.0	102.0	102.0					20																	210033		2203	4300	6503	158033	SO:0001583	missense	140881	exon2			AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"""Defensins, beta"""	16218	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 87"""	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.173A>C	20.37:g.210033A>C	ENSP00000246105:p.Lys58Thr		158033	NM_080831	Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	A	9.615	1.132281	0.21041	.	.	ENSG00000125903	ENST00000246105	T	0.48836	0.8	4.51	1.08	0.20341	.	0.364125	0.23966	N	0.042818	T	0.47728	0.1461	L	0.36672	1.1	0.09310	N	0.999999	D	0.64830	0.994	P	0.59889	0.865	T	0.33343	-0.9872	10	0.87932	D	0	-14.972	6.1839	0.20486	0.6954:0.0:0.3046:0.0	.	58	Q9H1M3	DB129_HUMAN	T	58	ENSP00000246105:K58T	ENSP00000246105:K58T	K	+	2	0	DEFB129	158033	0.318000	0.24598	0.136000	0.22124	0.019000	0.09904	1.246000	0.32803	0.158000	0.19367	-0.376000	0.06991	AAA		0.378	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831	
ISM1	140862	broad.mit.edu	37	20	13269293	13269293	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:13269293A>G	ENST00000262487.4	+	4	756	c.750A>G	c.(748-750)gcA>gcG	p.A250A	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	250	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular region (GO:0005576)		p.A250A(1)|p.C248fs*22(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CGTGCACTGCAACAGAATCGA	0.532																																					p.A250A												.	.	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	large_intestine(1)|NS(1)	c.A750G	20						.						80.0	86.0	84.0					20																	13269293		2016	4194	6210	13217293	SO:0001819	synonymous_variant	140862	exon4			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.750A>G	20.37:g.13269293A>G			13217293	NM_080826	Q8WVH9	Silent	SNP	ENST00000262487.4	37	CCDS46579.1																																																																																				0.532	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
ZNF133	7692	broad.mit.edu	37	20	18295827	18295827	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:18295827T>C	ENST00000316358.4	+	4	429	c.332T>C	c.(331-333)tTg>tCg	p.L111S	ZNF133_ENST00000377671.3_Missense_Mutation_p.L110S|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Missense_Mutation_p.L16S|ZNF133_ENST00000535822.1_Missense_Mutation_p.L16S|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Missense_Mutation_p.L111S|ZNF133_ENST00000396026.3_Missense_Mutation_p.L114S|ZNF133_ENST00000402618.2_Missense_Mutation_p.L48S	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	111					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.L110S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TTCACATGCTTGTGTGCAGAA	0.562																																					p.L110S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T329C	20						.						96.0	94.0	95.0					20																	18295827		2203	4300	6503	18243827	SO:0001583	missense	7692	exon7			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.332T>C	20.37:g.18295827T>C	ENSP00000346090:p.Leu111Ser		18243827	NM_003434	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	T	1.979	-0.434639	0.04669	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000434018;ENST00000538547;ENST00000535822;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T;T;T	0.07327	3.39;3.36;3.23;3.36;5.49;3.2;3.2;3.36;5.5	4.12	1.83	0.25207	.	0.398229	0.18395	N	0.142535	T	0.06188	0.0160	L	0.47716	1.5	0.09310	N	0.999996	B;B;B;B	0.14012	0.009;0.003;0.003;0.001	B;B;B;B	0.14578	0.01;0.011;0.011;0.009	T	0.43589	-0.9382	10	0.11182	T	0.66	-5.8584	4.4329	0.11536	0.0:0.1043:0.1995:0.6962	.	48;114;111;110	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	S	110;114;48;111;111;16;16;111;111	ENSP00000366899:L110S;ENSP00000400897:L114S;ENSP00000385279:L48S;ENSP00000383945:L111S;ENSP00000403835:L111S;ENSP00000442978:L16S;ENSP00000439427:L16S;ENSP00000346090:L111S;ENSP00000406638:L111S	ENSP00000346090:L111S	L	+	2	0	ZNF133	18243827	0.000000	0.05858	0.765000	0.31456	0.776000	0.43924	0.025000	0.13577	0.370000	0.24538	0.533000	0.62120	TTG		0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434	
RALGAPA2	57186	broad.mit.edu	37	20	20553605	20553605	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:20553605G>T	ENST00000202677.7	-	21	2822	c.2815C>A	c.(2815-2817)Ctc>Atc	p.L939I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	939					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L939I(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACATCTCCGAGGATCCCCAAG	0.502																																					p.L939I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2815A	20						.						49.0	49.0	49.0					20																	20553605		1904	4134	6038	20501605	SO:0001583	missense	57186	exon21			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2815C>A	20.37:g.20553605G>T	ENSP00000202677:p.Leu939Ile		20501605	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805092	0.70682	.	.	ENSG00000188559	ENST00000202677	T	0.74842	-0.88	5.83	5.83	0.93111	.	0.068461	0.64402	D	0.000013	D	0.86502	0.5948	M	0.84585	2.705	0.52501	D	0.999956	D;D	0.56968	0.978;0.978	P;P	0.57283	0.817;0.817	D	0.87902	0.2691	10	0.87932	D	0	.	20.126	0.97982	0.0:0.0:1.0:0.0	.	777;939	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	I	939	ENSP00000202677:L939I	ENSP00000202677:L939I	L	-	1	0	RALGAPA2	20501605	1.000000	0.71417	0.733000	0.30861	0.190000	0.23558	3.230000	0.51286	2.749000	0.94314	0.655000	0.94253	CTC		0.502	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
PYGB	5834	broad.mit.edu	37	20	25262748	25262748	+	Missense_Mutation	SNP	C	C	A	rs112730985		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:25262748C>A	ENST00000216962.4	+	12	1593	c.1483C>A	c.(1483-1485)Ctg>Atg	p.L495M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	495					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.L495M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GTGGCTGCTGCTGTGCAACCC	0.597																																					p.L495M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1483A	20						.						39.0	47.0	44.0					20																	25262748		2202	4300	6502	25210748	SO:0001583	missense	5834	exon12				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1483C>A	20.37:g.25262748C>A	ENSP00000216962:p.Leu495Met		25210748	NM_002862	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802888	0.50315	.	.	ENSG00000100994	ENST00000216962	D	0.93906	-3.31	3.93	1.94	0.25998	.	0.000000	0.64402	D	0.000001	D	0.92348	0.7572	L	0.58669	1.825	0.80722	D	1	B	0.21520	0.057	B	0.40741	0.339	D	0.88741	0.3243	10	0.45353	T	0.12	-20.2824	8.3784	0.32457	0.0:0.7142:0.0:0.2858	.	495	P11216	PYGB_HUMAN	M	495	ENSP00000216962:L495M	ENSP00000216962:L495M	L	+	1	2	PYGB	25210748	0.968000	0.33430	0.989000	0.46669	0.622000	0.37654	1.017000	0.29989	0.959000	0.37980	0.462000	0.41574	CTG		0.597	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862	
CCM2L	140706	broad.mit.edu	37	20	30602726	30602726	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:30602726G>A	ENST00000300415.8	+	2	63	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	CCM2L_ENST00000262659.8_Missense_Mutation_p.R17Q			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	17								p.R17Q(1)									TCCCCCATCCGAAGGCTGGTG	0.572																																					p.R17Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G50A	20						.						83.0	89.0	87.0					20																	30602726		2203	4300	6503	30066387	SO:0001583	missense	140706	exon2			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.50G>A	20.37:g.30602726G>A	ENSP00000300415:p.Arg17Gln		30066387	NM_080625	Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37		.	.	.	.	.	.	.	.	.	.	G	16.04	3.009929	0.54361	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.46063	0.88;0.88	4.86	3.89	0.44902	.	0.144445	0.47455	D	0.000236	T	0.32704	0.0838	L	0.59436	1.845	0.22762	N	0.998768	P	0.47106	0.89	B	0.37047	0.24	T	0.42032	-0.9475	10	0.72032	D	0.01	-6.1197	5.702	0.17887	0.1587:0.0:0.677:0.1643	.	17	Q9NUG4-2	.	Q	17	ENSP00000300415:R17Q;ENSP00000262659:R17Q	ENSP00000262659:R17Q	R	+	2	0	C20orf160	30066387	1.000000	0.71417	0.966000	0.40874	0.950000	0.60333	3.338000	0.52128	1.240000	0.43803	0.655000	0.94253	CGA		0.572	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625	
DNMT3B	1789	broad.mit.edu	37	20	31368260	31368260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:31368260C>T	ENST00000328111.2	+	2	452	c.131C>T	c.(130-132)cCg>cTg	p.P44L	DNMT3B_ENST00000201963.3_Missense_Mutation_p.P56L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P44L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P44L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P44L|DNMT3B_ENST00000375623.4_Missense_Mutation_p.P44L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P44L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P44L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	44	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.P44L(1)|p.P56L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCCGCACCCCGGAGATCAGA	0.652																																					p.P44L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C131T	20						.						22.0	26.0	24.0					20																	31368260		2202	4300	6502	30831921	SO:0001583	missense	1789	exon2				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.131C>T	20.37:g.31368260C>T	ENSP00000328547:p.Pro44Leu		30831921	NM_175848	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	2.609	-0.291118	0.05568	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;D;T;D	0.96992	-4.13;-4.13;-4.09;-4.18;-4.2;-3.95;-0.12;-4.13	4.29	3.34	0.38264	.	0.680949	0.14197	N	0.334941	D	0.86243	0.5886	N	0.04508	-0.205	0.47037	D	0.999299	P;B;B;B;B;B	0.36282	0.546;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B	0.20184	0.028;0.001;0.001;0.002;0.002;0.001	D	0.84880	0.0830	10	0.24483	T	0.36	-9.4596	9.6216	0.39725	0.0:0.8957:0.0:0.1043	.	44;44;56;44;44;44	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	L	44;130;44;44;44;44;44;44;56	ENSP00000328547:P44L;ENSP00000313397:P44L;ENSP00000337764:P44L;ENSP00000403169:P44L;ENSP00000412305:P44L;ENSP00000345105:P44L;ENSP00000364774:P44L;ENSP00000201963:P56L	ENSP00000201963:P56L	P	+	2	0	DNMT3B	30831921	0.998000	0.40836	1.000000	0.80357	0.815000	0.46073	1.041000	0.30291	2.385000	0.81259	0.462000	0.41574	CCG		0.652	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
BPIFB4	149954	broad.mit.edu	37	20	31682926	31682926	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:31682926T>C	ENST00000375483.3	+	10	1365	c.1365T>C	c.(1363-1365)ctT>ctC	p.L455L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	455						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L416L(1)									TTCCTCCACTTACCACAGCCA	0.488																																					p.L455L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1365C	20						.						207.0	189.0	195.0					20																	31682926		2203	4300	6503	31146587	SO:0001819	synonymous_variant	149954	exon10			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.1365T>C	20.37:g.31682926T>C			31146587	NM_182519	Q5TDX6	Silent	SNP	ENST00000375483.3	37	CCDS13213.2																																																																																				0.488	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	
ZNF341	84905	broad.mit.edu	37	20	32349788	32349788	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:32349788C>A	ENST00000375200.1	+	8	1514	c.1149C>A	c.(1147-1149)acC>acA	p.T383T	ZNF341_ENST00000342427.2_Silent_p.T376T	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	383					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.T376T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGGTGGCACCGTGTCTCGAA	0.567																																					p.T376T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1128A	20						.						153.0	129.0	137.0					20																	32349788		2203	4300	6503	31813449	SO:0001819	synonymous_variant	84905	exon8			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1149C>A	20.37:g.32349788C>A			31813449	NM_032819	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37																																																																																					0.567	ZNF341-201	KNOWN	basic	protein_coding	protein_coding			
TRPC4AP	26133	broad.mit.edu	37	20	33609028	33609028	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:33609028G>T	ENST00000252015.2	-	9	1272	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.L356I|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.L387I|TRPC4AP_ENST00000539834.1_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	395	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.L395I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCACGCAGAGGACATAGAGC	0.587																																					p.L387I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1159A	20						.						120.0	96.0	104.0					20																	33609028		2203	4300	6503	33072689	SO:0001583	missense	26133	exon9			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1183C>A	20.37:g.33609028G>T	ENSP00000252015:p.Leu395Ile		33072689	NM_199368	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620810	0.66787	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	5.71	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.78314	0.987;0.991;0.991	T	0.71800	-0.4483	9	0.59425	D	0.04	.	12.6746	0.56887	0.1357:0.0:0.8643:0.0	.	356;387;395	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	I	395;387;356;380	.	ENSP00000252015:L395I	L	-	1	0	TRPC4AP	33072689	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	3.702000	0.54800	1.424000	0.47217	-0.136000	0.14681	CTC		0.587	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638	
DLGAP4	22839	broad.mit.edu	37	20	35060231	35060231	+	Silent	SNP	G	G	A	rs561937686	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:35060231G>A	ENST00000373907.2	+	2	310	c.111G>A	c.(109-111)acG>acA	p.T37T	DLGAP4_ENST00000339266.5_Silent_p.T37T|DLGAP4_ENST00000373913.3_Silent_p.T37T|DLGAP4_ENST00000401952.2_Silent_p.T37T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	37					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.T37T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGTCGCCCACGGAGGCCTTCG	0.701													G|||	2	0.000399361	0.0	0.0014	5008	,	,		13824	0.0		0.0	False		,,,				2504	0.001				p.T37T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G111A	20						.						35.0	38.0	37.0					20																	35060231		2203	4300	6503	34493645	SO:0001819	synonymous_variant	22839	exon2			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.111G>A	20.37:g.35060231G>A			34493645	NM_014902	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37																																																																																					0.701	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902	
TBC1D20	128637	broad.mit.edu	37	20	419247	419247	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:419247G>A	ENST00000354200.4	-	8	1342	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	399					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.L399L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AACAGCTGCAGCTGAAACTTA	0.522																																					p.L399L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1195T	20						.						72.0	77.0	75.0					20																	419247		2203	4300	6503	367247	SO:0001819	synonymous_variant	128637	exon8			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1195C>T	20.37:g.419247G>A			367247	NM_144628	A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Silent	SNP	ENST00000354200.4	37	CCDS13002.1																																																																																				0.522	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628	
SOGA1	140710	broad.mit.edu	37	20	35443691	35443691	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:35443691G>A	ENST00000357779.3	-	5	1766	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	SOGA1_ENST00000237536.4_Silent_p.S718S|SOGA1_ENST00000456801.2_Silent_p.S321S|SOGA1_ENST00000279034.6_Silent_p.S480S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	480					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S480S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCTGCAGCACGCTCAGGCGCA	0.622																																					p.S718S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2154T	20						.						48.0	55.0	53.0					20																	35443691		2201	4300	6501	34877105	SO:0001819	synonymous_variant	140710	exon5			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1440C>T	20.37:g.35443691G>A			34877105	NM_080627	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.622	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
CDC25B	994	broad.mit.edu	37	20	3778273	3778273	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:3778273A>C	ENST00000245960.5	+	2	902	c.205A>C	c.(205-207)Acc>Ccc	p.T69P	CDC25B_ENST00000439880.2_Intron|CDC25B_ENST00000340833.4_Missense_Mutation_p.T69P|CDC25B_ENST00000379598.5_Missense_Mutation_p.T5P|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.T5P	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	69					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.T69P(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCCCAGCGAAACCCCAAAGAG	0.607																																					p.T69P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A205C	20						.						70.0	69.0	70.0					20																	3778273		2203	4300	6503	3726273	SO:0001583	missense	994	exon2				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.205A>C	20.37:g.3778273A>C	ENSP00000245960:p.Thr69Pro		3726273	NM_021873	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972416	0.34848	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000340833	T;T;T;T	0.16196	2.42;2.36;2.43;2.37	4.16	1.79	0.24919	.	.	.	.	.	T	0.12689	0.0308	L	0.38953	1.18	0.27074	N	0.963246	B;B;B;B	0.19073	0.003;0.003;0.033;0.004	B;B;B;B	0.25405	0.002;0.002;0.06;0.006	T	0.31336	-0.9947	9	0.34782	T	0.22	.	4.7522	0.13066	0.7034:0.1906:0.106:0.0	.	5;5;69;69	B4DQZ3;B4DIG0;P30305-3;P30305	.;.;.;MPIP2_HUMAN	P	5;5;69;69	ENSP00000339125:T5P;ENSP00000368918:T5P;ENSP00000245960:T69P;ENSP00000339170:T69P	ENSP00000245960:T69P	T	+	1	0	CDC25B	3726273	0.987000	0.35691	0.963000	0.40424	0.048000	0.14542	0.454000	0.21827	0.202000	0.20498	0.459000	0.35465	ACC		0.607	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874	
FAM83D	81610	broad.mit.edu	37	20	37580258	37580258	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:37580258C>A	ENST00000217429.4	+	4	984	c.943C>A	c.(943-945)Ctg>Atg	p.L315M		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	285					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L315M(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ACACTTTGATCTGGAGTTCCG	0.438																																					p.L315M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C943A	20						.						121.0	120.0	120.0					20																	37580258		1973	4157	6130	37013672	SO:0001583	missense	81610	exon4			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.943C>A	20.37:g.37580258C>A	ENSP00000217429:p.Leu315Met		37013672	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910700	0.52439	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12147	2.71	5.81	2.64	0.31445	.	0.154140	0.44688	D	0.000434	T	0.29620	0.0739	M	0.61703	1.905	0.35208	D	0.774852	D	0.89917	1.0	D	0.79108	0.992	T	0.26224	-1.0109	10	0.56958	D	0.05	.	8.6679	0.34132	0.0:0.5412:0.0:0.4588	.	285	Q9H4H8	FA83D_HUMAN	M	315;269	ENSP00000217429:L315M	ENSP00000217429:L315M	L	+	1	2	FAM83D	37013672	0.989000	0.36119	0.860000	0.33809	0.966000	0.64601	1.589000	0.36644	0.303000	0.22785	-0.140000	0.14226	CTG		0.438	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1		
CHD6	84181	broad.mit.edu	37	20	40045355	40045355	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:40045355T>A	ENST00000373233.3	-	33	6536	c.6359A>T	c.(6358-6360)gAg>gTg	p.E2120V	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2120					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.E2120V(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)				GCCTGAGGGCTCATACTGCTG	0.537																																					p.E2120V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6359T	20						.						57.0	48.0	51.0					20																	40045355		2203	4300	6503	39478769	SO:0001583	missense	84181	exon33			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.6359A>T	20.37:g.40045355T>A	ENSP00000362330:p.Glu2120Val		39478769	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691230	0.88735	.	.	ENSG00000124177	ENST00000373233	D	0.86230	-2.09	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000009	D	0.91334	0.7267	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.91469	0.5195	10	0.51188	T	0.08	-28.681	16.0347	0.80617	0.0:0.0:0.0:1.0	.	2120	Q8TD26	CHD6_HUMAN	V	2120	ENSP00000362330:E2120V	ENSP00000362330:E2120V	E	-	2	0	CHD6	39478769	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.961000	0.87903	2.248000	0.74166	0.533000	0.62120	GAG		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
CHD6	84181	broad.mit.edu	37	20	40068745	40068745	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:40068745C>T	ENST00000373233.3	-	26	4079	c.3902G>A	c.(3901-3903)cGa>cAa	p.R1301Q	CHD6_ENST00000309279.7_Missense_Mutation_p.R784Q	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1301					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.R1301Q(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)				TGGGTCTGCTCGCATGGCATT	0.463																																					p.R1301Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3902A	20						.						116.0	105.0	109.0					20																	40068745		2203	4300	6503	39502159	SO:0001583	missense	84181	exon26			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.3902G>A	20.37:g.40068745C>T	ENSP00000362330:p.Arg1301Gln		39502159	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.824423|5.824423	0.96989|0.96989	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	.|D;D	.|0.94280	.|-3.39;-3.39	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.45606	.|D	.|0.000357	D|D	0.97232|0.97232	0.9095|0.9095	M|M	0.87900|0.87900	2.915|2.915	0.32771|0.32771	N|N	0.503763|0.503763	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.78314	.|0.945;0.991	D|D	0.98701|0.98701	1.0700|1.0700	5|10	.|0.87932	.|D	.|0	-7.9327|-7.9327	19.5297|19.5297	0.95223|0.95223	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|784;1301	.|C9JFU2;Q8TD26	.|.;CHD6_HUMAN	K|Q	487|1301;784	.|ENSP00000362330:R1301Q;ENSP00000308684:R784Q	.|ENSP00000308684:R784Q	E|R	-|-	1|2	0|0	CHD6|CHD6	39502159|39502159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.157000|7.157000	0.77461|0.77461	2.712000|2.712000	0.92718|0.92718	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
CHD6	84181	broad.mit.edu	37	20	40161760	40161760	+	Silent	SNP	C	C	T	rs200005049		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:40161760C>T	ENST00000373233.3	-	3	660	c.483G>A	c.(481-483)tcG>tcA	p.S161S	CHD6_ENST00000309279.7_Silent_p.S161S|CHD6_ENST00000373222.3_Silent_p.S196S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	161	Lys-rich.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.S161S(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)				CCTTGGTGCCCGAGGCCTCCC	0.592																																					p.S161S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G483A	20						.						157.0	144.0	148.0					20																	40161760		2203	4300	6503	39595174	SO:0001819	synonymous_variant	84181	exon3			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.483G>A	20.37:g.40161760C>T			39595174	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.592	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
TOX2	84969	broad.mit.edu	37	20	42635369	42635369	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:42635369A>G	ENST00000358131.5	+	3	583	c.375A>G	c.(373-375)ccA>ccG	p.P125P	RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000341197.4_Silent_p.P116P|TOX2_ENST00000372999.1_Silent_p.P74P|TOX2_ENST00000423191.2_Silent_p.P74P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	125					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P74P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGACCTCCCAGCCATCATGG	0.632																																					p.P74P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A222G	20						.						90.0	67.0	75.0					20																	42635369		2203	4300	6503	42068783	SO:0001819	synonymous_variant	84969	exon4			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.375A>G	20.37:g.42635369A>G			42068783	NM_032883	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	CCDS42875.1																																																																																				0.632	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
STK4	6789	broad.mit.edu	37	20	43629835	43629835	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:43629835A>G	ENST00000372806.3	+	9	1083	c.988A>G	c.(988-990)Atg>Gtg	p.M330V	STK4_ENST00000372801.1_Missense_Mutation_p.M330V|STK4_ENST00000396731.4_Missense_Mutation_p.M330V|STK4_ENST00000499879.2_Missense_Mutation_p.M275V	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	330					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.M330V(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTCTGGCACGATGGTTCGAGC	0.448																																					p.M330V	GBM(187;1039 2137 11798 21916 33213)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A988G	20						.						124.0	103.0	110.0					20																	43629835		2203	4300	6503	43063249	SO:0001583	missense	6789	exon9				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.988A>G	20.37:g.43629835A>G	ENSP00000361892:p.Met330Val		43063249	NM_006282	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075718	0.55646	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.71934	-0.58;-0.61;-0.61;0.4	5.99	5.99	0.97316	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.67953	2.075	0.54753	D	0.999986	P;B;B	0.41131	0.739;0.165;0.103	B;B;B	0.40901	0.343;0.051;0.041	T	0.71196	-0.4664	10	0.33940	T	0.23	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	275;330;330	F5H5B4;Q13043-2;Q13043	.;.;STK4_HUMAN	V	330;330;330;275	ENSP00000361892:M330V;ENSP00000379957:M330V;ENSP00000361887:M330V;ENSP00000443514:M275V	ENSP00000361887:M330V	M	+	1	0	STK4	43063249	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	8.962000	0.93254	2.291000	0.77112	0.533000	0.62120	ATG		0.448	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282	
SLC2A10	81031	broad.mit.edu	37	20	45354051	45354051	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:45354051C>T	ENST00000359271.2	+	2	626	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	126					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.L126L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CGTGTCAGAGCTGGTGGGGCC	0.642																																					p.L126L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C376T	20						.						80.0	79.0	79.0					20																	45354051		2203	4300	6503	44787458	SO:0001819	synonymous_variant	81031	exon2			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.376C>T	20.37:g.45354051C>T			44787458	NM_030777	A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	CCDS13402.1																																																																																				0.642	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
ZMYND8	23613	broad.mit.edu	37	20	45841313	45841313	+	Intron	SNP	G	G	T	rs201733112		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:45841313G>T	ENST00000311275.7	-	22	3678				ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P1188Q|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P1181Q|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P1052Q|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P1135Q|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P1161Q|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P1083Q|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P1115Q	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.P1135Q(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTTGGGGTGCGGCTGGTGGTC	0.537																																					p.P1135Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3404A	20						.						158.0	141.0	147.0					20																	45841313		2203	4300	6503	45274720	SO:0001627	intron_variant	23613	exon22			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3425-1771C>A	20.37:g.45841313G>T			45274720	NM_183047	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	G	11.10	1.540686	0.27563	.	.	ENSG00000101040	ENST00000262975;ENST00000471951;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023	D;D;D;D;D	0.89343	-1.53;-1.53;-2.5;-1.55;-1.67	3.92	-1.83	0.07833	.	0.516425	0.16194	N	0.225263	T	0.81153	0.4763	N	0.22421	0.69	0.24745	N	0.993016	B;P;B;B;B;B;D;B	0.60575	0.228;0.947;0.178;0.144;0.144;0.41;0.988;0.242	B;B;B;B;B;B;P;B	0.49047	0.2;0.41;0.129;0.162;0.162;0.103;0.599;0.17	T	0.73886	-0.3841	10	0.72032	D	0.01	-2.3058	5.184	0.15174	0.5617:0.1642:0.2741:0.0	.	1188;1083;1181;1115;1135;1052;1110;1054	F5H0X3;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-13;B3KVL2;Q2HXV9;Q9ULU4-8	.;.;.;.;.;.;.;.	Q	1116;1182;1188;1161;1052;1135;1083	ENSP00000439800:P1188Q;ENSP00000348246:P1161Q;ENSP00000396725:P1052Q;ENSP00000418210:P1135Q;ENSP00000361093:P1083Q	ENSP00000262975:P1116Q	P	-	2	0	ZMYND8	45274720	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	0.976000	0.29462	-0.301000	0.08882	0.561000	0.74099	CCG		0.537	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
PREX1	57580	broad.mit.edu	37	20	47258768	47258768	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:47258768C>A	ENST00000371941.3	-	29	3735	c.3713G>T	c.(3712-3714)gGg>gTg	p.G1238V	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Missense_Mutation_p.G1238V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1238					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1238V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CATGACTGGCCCCTTGAGGAG	0.582																																					p.G1238V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3713T	20						.						87.0	83.0	84.0					20																	47258768		2203	4300	6503	46692175	SO:0001583	missense	57580	exon29			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3713G>T	20.37:g.47258768C>A	ENSP00000361009:p.Gly1238Val		46692175	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.056941	0.76074	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.39406	1.08;1.08	5.4	5.4	0.78164	.	0.260833	0.26765	U	0.022614	T	0.60560	0.2278	M	0.70275	2.135	0.80722	D	1	D;P	0.55385	0.971;0.953	P;P	0.55749	0.77;0.783	T	0.64719	-0.6341	10	0.87932	D	0	.	19.2615	0.93970	0.0:1.0:0.0:0.0	.	1238;535	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	V	1238	ENSP00000361009:G1238V;ENSP00000379522:G1238V	ENSP00000361009:G1238V	G	-	2	0	PREX1	46692175	1.000000	0.71417	0.989000	0.46669	0.464000	0.32679	7.379000	0.79691	2.538000	0.85594	0.639000	0.83563	GGG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
ZNFX1	57169	broad.mit.edu	37	20	47881290	47881290	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:47881290C>T	ENST00000396105.1	-	5	2360	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R705H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R705H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	705							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R705H(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGGAGGTTGCGGCGGAATTC	0.537																																					p.R705H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2114A	20						.						168.0	148.0	155.0					20																	47881290		2203	4300	6503	47314697	SO:0001583	missense	57169	exon5			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2114G>A	20.37:g.47881290C>T	ENSP00000379412:p.Arg705His		47314697	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027753	0.54790	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.84873	-1.91;-1.61;-1.61;1.96;1.96	5.83	5.83	0.93111	.	0.191820	0.46145	D	0.000314	T	0.77294	0.4109	L	0.41415	1.275	0.31043	N	0.716066	P	0.37015	0.578	B	0.29440	0.102	T	0.79624	-0.1726	10	0.44086	T	0.13	-24.3989	13.0104	0.58727	0.0:0.9225:0.0:0.0774	.	705	Q9P2E3	ZNFX1_HUMAN	H	705;705;705;705;705;509	ENSP00000360819:R705H;ENSP00000360817:R705H;ENSP00000379412:R705H;ENSP00000360809:R705H;ENSP00000413800:R509H	ENSP00000360809:R705H	R	-	2	0	ZNFX1	47314697	0.043000	0.20138	1.000000	0.80357	0.990000	0.78478	0.461000	0.21940	2.770000	0.95276	0.655000	0.94253	CGC		0.537	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
CDS2	8760	broad.mit.edu	37	20	5170471	5170471	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:5170471G>A	ENST00000460006.1	+	12	1499	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	CDS2_ENST00000379062.4_Missense_Mutation_p.A278T|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Missense_Mutation_p.A168T	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	398					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.A398T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TGTATACATCGCCAGTTTTAT	0.438																																					p.A398T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1192A	20						.						169.0	153.0	158.0					20																	5170471		2203	4300	6503	5118471	SO:0001583	missense	8760	exon12			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1192G>A	20.37:g.5170471G>A	ENSP00000419879:p.Ala398Thr		5118471	NM_003818	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030176	0.35797	.	.	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T;T	0.42900	0.96;0.96;0.96	5.52	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	N	0.02539	-0.55	0.54753	D	0.999982	B;B;B	0.23316	0.0;0.024;0.083	B;B;B	0.18561	0.002;0.003;0.022	T	0.07966	-1.0745	10	0.11794	T	0.64	-9.9286	10.9349	0.47239	0.1548:0.0:0.8452:0.0	.	168;278;398	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	T	398;278;168	ENSP00000419879:A398T;ENSP00000368352:A278T;ENSP00000440555:A168T	ENSP00000368352:A278T	A	+	1	0	CDS2	5118471	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.718000	0.74713	1.466000	0.48025	0.555000	0.69702	GCC		0.438	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2		
KCNG1	3755	broad.mit.edu	37	20	49626590	49626590	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:49626590T>C	ENST00000371571.4	-	2	571	c.286A>G	c.(286-288)Acc>Gcc	p.T96A	KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.T96A|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	96					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.T96A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCGAAGTTGGTGCAGGCCTTG	0.612																																					p.T96A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A286G	20						.						78.0	62.0	68.0					20																	49626590		2203	4300	6503	49059997	SO:0001583	missense	3755	exon2			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.286A>G	20.37:g.49626590T>C	ENSP00000360626:p.Thr96Ala		49059997	NM_002237	A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184054	0.57800	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.088958	0.85682	D	0.000000	T	0.66066	0.2752	L	0.31294	0.92	0.44985	D	0.998004	B;B	0.29988	0.264;0.205	B;B	0.32980	0.107;0.156	T	0.62277	-0.6888	9	.	.	.	.	16.3829	0.83481	0.0:0.0:0.0:1.0	.	96;96	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	A	96	ENSP00000360626:T96A;ENSP00000379338:T96A;ENSP00000394075:T96A;ENSP00000394093:T96A	.	T	-	1	0	KCNG1	49059997	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.999000	0.63934	2.271000	0.75665	0.459000	0.35465	ACC		0.612	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
TSHZ2	128553	broad.mit.edu	37	20	51872360	51872360	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:51872360A>G	ENST00000371497.5	+	2	3250	c.2363A>G	c.(2362-2364)cAg>cGg	p.Q788R	TSHZ2_ENST00000603338.2_Missense_Mutation_p.Q785R|TSHZ2_ENST00000329613.6_Missense_Mutation_p.Q785R|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	788					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)	p.Q788R(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCCCACCTCAGAAGCACGCT	0.567																																					p.Q788R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2363G	20						.						110.0	103.0	105.0					20																	51872360		2203	4300	6503	51305767	SO:0001583	missense	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2363A>G	20.37:g.51872360A>G	ENSP00000360552:p.Gln788Arg		51305767	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	7.675	0.687819	0.14973	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.10860	2.83;2.83	5.18	5.18	0.71444	.	0.057571	0.64402	D	0.000001	T	0.16685	0.0401	N	0.26092	0.79	0.58432	D	0.999997	D	0.63880	0.993	D	0.70227	0.968	T	0.02411	-1.1163	10	0.02654	T	1	-0.9238	15.0389	0.71770	1.0:0.0:0.0:0.0	.	788	Q9NRE2	TSH2_HUMAN	R	788;785;314	ENSP00000360552:Q788R;ENSP00000333114:Q785R	ENSP00000333114:Q785R	Q	+	2	0	TSHZ2	51305767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.118000	0.77137	1.942000	0.56320	0.523000	0.50628	CAG		0.567	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
ZBP1	81030	broad.mit.edu	37	20	56186853	56186853	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:56186853G>A	ENST00000371173.3	-	6	981	c.804C>T	c.(802-804)caC>caT	p.H268H	ZBP1_ENST00000343535.4_Silent_p.H268H|ZBP1_ENST00000340462.4_Silent_p.H245H|ZBP1_ENST00000395822.3_Silent_p.H193H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	268					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.H268H(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCTCATTGCTGTGTCCCAGCT	0.632																																					p.H267H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C801T	20						.						39.0	39.0	39.0					20																	56186853		2203	4300	6503	55620259	SO:0001819	synonymous_variant	81030	exon6			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.804C>T	20.37:g.56186853G>A			55620259	NM_001160417	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	CCDS13461.1																																																																																				0.632	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
ZNF831	128611	broad.mit.edu	37	20	57829576	57829576	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:57829576C>A	ENST00000371030.2	+	5	4812	c.4812C>A	c.(4810-4812)ccC>ccA	p.P1604P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1604							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P1604P(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGACTGTCCCCTGCCCCTCTT	0.493																																					p.P1604P												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C4812A	20						.						84.0	81.0	82.0					20																	57829576		1899	4123	6022	57262971	SO:0001819	synonymous_variant	128611	exon5			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4812C>A	20.37:g.57829576C>A			57262971	NM_178457	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
SYCP2	10388	broad.mit.edu	37	20	58467379	58467379	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:58467379G>T	ENST00000357552.3	-	24	2255	c.2030C>A	c.(2029-2031)aCc>aAc	p.T677N	SYCP2_ENST00000371001.2_Missense_Mutation_p.T677N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	677					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.T677N(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATATGGTCGGTTTGTTCTTT	0.284																																					p.T677N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2030A	20						.						112.0	115.0	114.0					20																	58467379		2201	4298	6499	57900774	SO:0001583	missense	10388	exon23			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2030C>A	20.37:g.58467379G>T	ENSP00000350162:p.Thr677Asn		57900774	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.863908	0.00552	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.17370	2.54;2.54;2.28	4.34	-2.62	0.06152	.	1.764460	0.02925	N	0.138480	T	0.09730	0.0239	N	0.22421	0.69	0.09310	N	1	B	0.28552	0.215	B	0.23574	0.047	T	0.21348	-1.0248	10	0.42905	T	0.14	5.3261	0.956	0.01385	0.3278:0.1747:0.327:0.1705	.	677	Q9BX26	SYCP2_HUMAN	N	677	ENSP00000360040:T677N;ENSP00000350162:T677N;ENSP00000402456:T677N	ENSP00000350162:T677N	T	-	2	0	SYCP2	57900774	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.244000	0.08903	-0.261000	0.09405	-0.469000	0.05056	ACC		0.284	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
MAVS	57506	broad.mit.edu	37	20	3842041	3842041	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:3842041delC	ENST00000428216.2	+	4	483	c.355delC	c.(355-357)cccfs	p.P120fs	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	120	Pro-rich.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.T121fs*70(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGCCAGGGCCCCCCACACC	0.607																																					p.P119fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.355delC	20						.						76.0	76.0	76.0					20																	3842041		2203	4300	6503	3790041	SO:0001589	frameshift_variant	57506	exon4			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.355delC	20.37:g.3842041delC	ENSP00000401980:p.Pro120fs		3790041	NM_020746	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Frame_Shift_Del	DEL	ENST00000428216.2	37	CCDS33437.1																																																																																				0.607	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	
PLCB1	23236	broad.mit.edu	37	20	8745986	8745986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:8745986delA	ENST00000338037.6	+	26	2938	c.2911delA	c.(2911-2913)aaafs	p.K972fs	PLCB1_ENST00000378637.2_Frame_Shift_Del_p.K972fs|PLCB1_ENST00000378641.3_Frame_Shift_Del_p.K972fs|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	972					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.K972fs*30(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						AAAGTCCGCCAAAAAGGACAG	0.328																																					p.K971fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2911delA	20						.						51.0	56.0	54.0					20																	8745986		2203	4300	6503	8693986	SO:0001589	frameshift_variant	23236	exon26			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.2911delA	20.37:g.8745986delA	ENSP00000338185:p.Lys972fs		8693986	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Frame_Shift_Del	DEL	ENST00000338037.6	37	CCDS13102.1																																																																																				0.328	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
OSBPL2	9885	broad.mit.edu	37	20	60868922	60868922	+	Silent	SNP	C	C	T	rs201552246		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr20:60868922C>T	ENST00000313733.3	+	14	1624	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000439951.2_Missense_Mutation_p.P341L|OSBPL2_ENST00000358053.2_Silent_p.S462S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	474					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.S474S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTCTCCGACTGCCCAG	0.612																																					p.S462S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1386T	20						.						54.0	51.0	52.0					20																	60868922		2203	4300	6503	60302317	SO:0001819	synonymous_variant	9885	exon14			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1422C>T	20.37:g.60868922C>T			60302317	NM_014835	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	C	2.664	-0.278990	0.05642	.	.	ENSG00000130703	ENST00000439951	T	0.54279	0.58	4.18	-8.37	0.00976	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.19745	-1.0296	8	0.54805	T	0.06	-10.7496	1.4302	0.02332	0.1821:0.2935:0.1256:0.3988	.	341	E7ET92	.	L	341	ENSP00000397602:P341L	ENSP00000397602:P341L	P	+	2	0	OSBPL2	60302317	0.000000	0.05858	0.250000	0.24296	0.553000	0.35397	-3.465000	0.00462	-3.569000	0.00139	-2.025000	0.00428	CCG		0.612	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835	
ADAMTS5	11096	broad.mit.edu	37	21	28296658	28296658	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:28296658G>A	ENST00000284987.5	-	8	2628	c.2507C>T	c.(2506-2508)gCa>gTa	p.A836V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	836	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A836V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGGGTCTGTTGCAAGAATCTG	0.448																																					p.A836V	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2507T	21						.						134.0	138.0	136.0					21																	28296658		2203	4300	6503	27218529	SO:0001583	missense	11096	exon8			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2507C>T	21.37:g.28296658G>A	ENSP00000284987:p.Ala836Val		27218529	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267320	0.59540	.	.	ENSG00000154736	ENST00000284987	T	0.50277	0.75	5.83	4.94	0.65067	ADAM-TS Spacer 1 (1);	0.103719	0.64402	D	0.000004	T	0.44414	0.1292	N	0.25286	0.73	0.58432	D	0.99999	P	0.50819	0.939	P	0.51055	0.657	T	0.22661	-1.0210	10	0.16896	T	0.51	.	17.0103	0.86404	0.0:0.1273:0.8727:0.0	.	836	Q9UNA0	ATS5_HUMAN	V	836	ENSP00000284987:A836V	ENSP00000284987:A836V	A	-	2	0	ADAMTS5	27218529	1.000000	0.71417	0.983000	0.44433	0.917000	0.54804	9.444000	0.97578	1.464000	0.47987	0.655000	0.94253	GCA		0.448	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
SCAF4	57466	broad.mit.edu	37	21	33066563	33066563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:33066563G>A	ENST00000286835.7	-	11	1658	c.1276C>T	c.(1276-1278)Cga>Tga	p.R426*	SCAF4_ENST00000434667.3_Nonsense_Mutation_p.R411*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.R426*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	426						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R426*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GACATATGTCGCTTAACCTCT	0.318																																					p.R411X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)	c.C1231T	21						.						82.0	78.0	79.0					21																	33066563		2203	4298	6501	31988434	SO:0001587	stop_gained	57466	exon10			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1276C>T	21.37:g.33066563G>A	ENSP00000286835:p.Arg426*		31988434	NM_001145444	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	42	9.399303	0.99159	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1624	14.3805	0.66908	0.0:0.0:0.7315:0.2685	.	.	.	.	X	411;426;426	.	ENSP00000286835:R426X	R	-	1	2	SCAF4	31988434	0.976000	0.34144	1.000000	0.80357	0.989000	0.77384	2.243000	0.43115	1.575000	0.49775	0.655000	0.94253	CGA		0.318	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SYNJ1	8867	broad.mit.edu	37	21	34066620	34066620	+	Splice_Site	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:34066620A>G	ENST00000322229.7	-	5	706	c.707T>C	c.(706-708)gTt>gCt	p.V236A	SYNJ1_ENST00000433931.2_Splice_Site_p.V275A|SYNJ1_ENST00000382491.3_Splice_Site_p.V236A|SYNJ1_ENST00000357345.3_Splice_Site_p.V236A|SYNJ1_ENST00000382499.2_Splice_Site_p.V275A			O43426	SYNJ1_HUMAN	synaptojanin 1	236	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.V236A(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TAAGTACACAACCTACAGAAA	0.328																																					p.V275A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T824C	21						.						52.0	51.0	51.0					21																	34066620		2203	4300	6503	32988491	SO:0001630	splice_region_variant	8867	exon6			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.706-1T>C	21.37:g.34066620A>G			32988491	NM_003895	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402707	0.62288	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.87	5.87	0.94306	Synaptojanin, N-terminal (2);	0.110120	0.64402	D	0.000008	T	0.71074	0.3297	M	0.86178	2.8	0.80722	D	1	P;B;P;B;P	0.48764	0.775;0.368;0.915;0.218;0.866	P;B;B;B;B	0.49953	0.627;0.196;0.375;0.14;0.42	T	0.74393	-0.3680	10	0.42905	T	0.14	.	16.267	0.82593	1.0:0.0:0.0:0.0	.	236;275;236;236;236	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	A	236;236;275;275;236;236	ENSP00000371931:V236A;ENSP00000349903:V236A;ENSP00000371939:V275A;ENSP00000409667:V275A;ENSP00000322234:V236A;ENSP00000413649:V236A	ENSP00000322234:V236A	V	-	2	0	SYNJ1	32988491	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.073000	0.76784	2.243000	0.73865	0.482000	0.46254	GTT		0.328	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Missense_Mutation
DNAJC28	54943	broad.mit.edu	37	21	34860679	34860679	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:34860679T>C	ENST00000314399.3	-	2	1460	c.1022A>G	c.(1021-1023)tAc>tGc	p.Y341C	DNAJC28_ENST00000381947.3_Missense_Mutation_p.Y341C|DNAJC28_ENST00000402202.1_Missense_Mutation_p.Y341C	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	341				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). {ECO:0000305}.				p.Y341C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						AAGGGTCTCGTATATTTTCTG	0.343																																					p.Y341C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1022G	21						.						98.0	92.0	94.0					21																	34860679		2203	4300	6503	33782549	SO:0001583	missense	54943	exon2			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.1022A>G	21.37:g.34860679T>C	ENSP00000320303:p.Tyr341Cys		33782549	NM_001040192	D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	T	5.828	0.336939	0.11013	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.24	2.82	0.32997	.	0.297933	0.31210	N	0.008043	T	0.41442	0.1159	M	0.63428	1.95	0.09310	N	1	B	0.21905	0.062	B	0.20184	0.028	T	0.31888	-0.9927	9	0.37606	T	0.19	-8.7018	8.4082	0.32627	0.0:0.0725:0.1333:0.7941	.	341	Q9NX36	DJC28_HUMAN	C	341	.	ENSP00000320303:Y341C	Y	-	2	0	DNAJC28	33782549	0.997000	0.39634	0.033000	0.17914	0.598000	0.36846	4.019000	0.57181	0.926000	0.37118	0.528000	0.53228	TAC		0.343	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
ITSN1	6453	broad.mit.edu	37	21	35190666	35190666	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:35190666C>T	ENST00000381318.3	+	23	3111	c.2823C>T	c.(2821-2823)acC>acT	p.T941T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.T941T|ITSN1_ENST00000399349.1_Silent_p.T936T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399367.3_Silent_p.T936T|ITSN1_ENST00000399353.1_Silent_p.T899T|ITSN1_ENST00000437442.2_Silent_p.T936T|ITSN1_ENST00000399355.2_Silent_p.T941T|ITSN1_ENST00000381285.4_Silent_p.T941T|ITSN1_ENST00000399352.1_Silent_p.T936T|ITSN1_ENST00000399326.3_Silent_p.T936T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	941	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T941T(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATGTCATCACCGTCCTGGAAC	0.453																																					p.T941T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2823T	21						.						172.0	165.0	167.0					21																	35190666		2203	4300	6503	34112536	SO:0001819	synonymous_variant	6453	exon23			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2823C>T	21.37:g.35190666C>T			34112536	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																				0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
DOPEY2	9980	broad.mit.edu	37	21	37610994	37610994	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:37610994T>C	ENST00000399151.3	+	17	2956	c.2871T>C	c.(2869-2871)ttT>ttC	p.F957F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	957					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.F957F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATCGCTCCTTTGATAGGTGAG	0.527																																					p.F957F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2871C	21						.						110.0	100.0	103.0					21																	37610994		2203	4300	6503	36532864	SO:0001819	synonymous_variant	9980	exon17			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2871T>C	21.37:g.37610994T>C			36532864	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	CCDS13643.1																																																																																				0.527	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
RIPK4	54101	broad.mit.edu	37	21	43161791	43161791	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:43161791C>T	ENST00000352483.2	-	9	1770	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	RIPK4_ENST00000544709.1_Missense_Mutation_p.R458Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R521Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.R458Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	569					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R569Q(1)|p.R521Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACAGCAGCCGTGTGCTAGA	0.627																																					p.R521Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1562A	21						.						89.0	72.0	78.0					21																	43161791		2203	4300	6503	42034860	SO:0001583	missense	54101	exon8			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1706G>A	21.37:g.43161791C>T	ENSP00000330161:p.Arg569Gln		42034860	NM_020639	Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	C	14.49	2.550979	0.45383	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.84	4.84	0.62591	.	0.097403	0.40385	N	0.001108	T	0.49012	0.1532	N	0.26130	0.795	0.46701	D	0.99916	D	0.56287	0.975	B	0.42738	0.396	T	0.55309	-0.8161	10	0.66056	D	0.02	-41.8438	10.5341	0.44994	0.0:0.8998:0.0:0.1002	.	521	P57078-2	.	Q	521;569;458;458;260	ENSP00000332454:R521Q;ENSP00000330161:R569Q;ENSP00000441754:R458Q;ENSP00000442901:R458Q	ENSP00000330975:R260Q	R	-	2	0	RIPK4	42034860	1.000000	0.71417	0.984000	0.44739	0.087000	0.18053	4.762000	0.62250	2.209000	0.71365	0.655000	0.94253	CGG		0.627	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
FAM207A	85395	broad.mit.edu	37	21	46380065	46380065	+	Missense_Mutation	SNP	C	C	T	rs369865339		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:46380065C>T	ENST00000291634.6	+	3	382	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	FAM207A_ENST00000397826.3_Missense_Mutation_p.R97C|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	112								p.R112C(1)									GAAGCTGAGGCGTGAGCAATG	0.567																																					p.R112C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334T	21						.						127.0	100.0	109.0					21																	46380065		2203	4300	6503	45204493	SO:0001583	missense	85395	exon3				CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.334C>T	21.37:g.46380065C>T	ENSP00000291634:p.Arg112Cys		45204493	NM_058190		Missense_Mutation	SNP	ENST00000291634.6	37	CCDS13718.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109214	0.20714	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T;T	0.51071	0.72;0.72;0.72	3.24	2.33	0.28932	.	0.107337	0.64402	D	0.000018	T	0.64681	0.2620	M	0.80183	2.485	0.24522	N	0.994156	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.54262	-0.8320	10	0.87932	D	0	-7.2881	7.708	0.28661	0.2512:0.7488:0.0:0.0	.	97;112	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	C	112;97;97	ENSP00000291634:R112C;ENSP00000380926:R97C;ENSP00000404964:R97C	ENSP00000291634:R112C	R	+	1	0	C21orf70	45204493	0.359000	0.24955	0.034000	0.17996	0.110000	0.19582	0.888000	0.28268	0.903000	0.36546	0.650000	0.86243	CGT		0.567	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190	
MCM3AP	8888	broad.mit.edu	37	21	47687021	47687021	+	Silent	SNP	C	C	T	rs138728526	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr21:47687021C>T	ENST00000397708.1	-	11	2918	c.2664G>A	c.(2662-2664)gcG>gcA	p.A888A	MCM3AP_ENST00000291688.1_Silent_p.A888A			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	888	SAC3 homology.				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.A888A(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)					TCACCGTGTACGCAAAGTTGA	0.572													c|||	3	0.000599042	0.0015	0.0	5008	,	,		19610	0.001		0.0	False		,,,				2504	0.0				p.A888A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2664A	21						.						108.0	73.0	85.0					21																	47687021		2203	4300	6503	46511449	SO:0001819	synonymous_variant	8888	exon10			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.2664G>A	21.37:g.47687021C>T			46511449	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	CCDS13734.1																																																																																				0.572	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
XKR3	150165	broad.mit.edu	37	22	17280748	17280748	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:17280748C>A	ENST00000331428.5	-	3	604	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V168L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	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)				GCCTGAATCACTGACATGTAC	0.398																																					p.V168L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502T	22						.						225.0	213.0	217.0					22																	17280748		1923	4125	6048	15660748	SO:0001583	missense	150165	exon3			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.502G>T	22.37:g.17280748C>A	ENSP00000331704:p.Val168Leu		15660748	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	11.07	1.531770	0.27387	.	.	ENSG00000172967	ENST00000331428	T	0.55588	0.51	0.945	0.945	0.19543	.	0.000000	0.64402	U	0.000003	T	0.54111	0.1838	L	0.54323	1.7	0.23653	N	0.9972	D	0.56968	0.978	D	0.65874	0.939	T	0.51466	-0.8702	10	0.02654	T	1	.	7.8898	0.29672	0.0:1.0:0.0:0.0	.	168	Q5GH77	XKR3_HUMAN	L	168	ENSP00000331704:V168L	ENSP00000331704:V168L	V	-	1	0	XKR3	15660748	0.997000	0.39634	0.049000	0.19019	0.024000	0.10985	1.509000	0.35780	0.876000	0.35872	0.289000	0.19496	GTG		0.398	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878	
BCR	613	broad.mit.edu	37	22	23615933	23615933	+	Missense_Mutation	SNP	G	G	A	rs142568943		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:23615933G>A	ENST00000305877.8	+	8	2838	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	BCR_ENST00000359540.3_Missense_Mutation_p.R696Q	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	696					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R696Q(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	ACACCCCGACGGCAGTCCATG	0.627			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																p.R696Q			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2087A	22						.	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	88.0	93.0		2087,2087	4.7	1.0	22	dbSNP_134	93	0,8600		0,0,4300	no	missense,missense	BCR	NM_004327.3,NM_021574.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	696/1272,696/1228	23615933	1,13005	2203	4300	6503	21945933	SO:0001583	missense	613	exon8				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2087G>A	22.37:g.23615933G>A	ENSP00000303507:p.Arg696Gln		21945933	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205127	0.95033	2.27E-4	0.0	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.27557	1.68;1.66;2.51	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.31294	0.92	0.80722	D	1	D;D;D;D	0.89917	0.995;0.995;1.0;0.977	P;P;D;P	0.72075	0.791;0.791;0.976;0.556	T	0.20207	-1.0282	10	0.31617	T	0.26	.	16.8943	0.86096	0.0:0.0:1.0:0.0	.	285;361;696;696	B4E065;Q12843;P11274-2;P11274	.;.;.;BCR_HUMAN	Q	696;696;361;180	ENSP00000303507:R696Q;ENSP00000352535:R696Q;ENSP00000396531:R180Q	ENSP00000303507:R696Q	R	+	2	0	BCR	21945933	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.172000	0.94808	2.303000	0.77524	0.561000	0.74099	CGG		0.627	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
UPB1	51733	broad.mit.edu	37	22	24891420	24891420	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:24891420C>T	ENST00000326010.5	+	1	393	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	ADORA2A-AS1_ENST00000427813.2_RNA|UPB1_ENST00000382760.2_Silent_p.L17L|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000412790.1_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|UPB1_ENST00000413389.2_Missense_Mutation_p.P6L	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	17					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.L17L(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GGAGAAGCACCTGCCGCTCCC	0.622																																					p.L17L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C49T	22						.						81.0	72.0	75.0					22																	24891420		2203	4300	6503	23221420	SO:0001819	synonymous_variant	51733	exon1			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.49C>T	22.37:g.24891420C>T			23221420	NM_016327	A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.294014	0.23564	.	.	ENSG00000100024	ENST00000413389	D	0.82984	-1.67	5.1	0.508	0.16972	.	.	.	.	.	T	0.65228	0.2671	.	.	.	0.29344	N	0.8658	B	0.02656	0.0	B	0.01281	0.0	T	0.50268	-0.8848	7	.	.	.	-13.8353	1.7104	0.02891	0.1689:0.4856:0.1636:0.1819	.	6	E7EUZ5	.	L	6	ENSP00000406057:P6L	.	P	+	2	0	UPB1	23221420	0.962000	0.33011	0.063000	0.19743	0.002000	0.02628	0.186000	0.16978	0.034000	0.15491	-0.302000	0.09304	CCT		0.622	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1		
CCDC117	150275	broad.mit.edu	37	22	29169758	29169758	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:29169758G>T	ENST00000249064.4	+	2	407	c.231G>T	c.(229-231)gaG>gaT	p.E77D	CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000421503.2_Missense_Mutation_p.E77D|CCDC117_ENST00000443309.2_5'UTR	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	77								p.E77D(1)		breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						AGGAGGAGGAGGATGATGAGT	0.368																																					p.E77D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G231T	22						.						301.0	264.0	277.0					22																	29169758		2203	4300	6503	27499758	SO:0001583	missense	150275	exon2			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.231G>T	22.37:g.29169758G>T	ENSP00000249064:p.Glu77Asp		27499758	NM_173510	A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	37	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305327	0.40795	.	.	ENSG00000159873	ENST00000249064;ENST00000421503	T;T	0.15256	2.44;2.46	5.03	-3.0	0.05480	.	0.305004	0.29616	N	0.011657	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14578	0.011;0.011	T	0.44236	-0.9341	10	0.02654	T	1	.	3.5404	0.07809	0.3397:0.0:0.3715:0.2888	.	77;77	B7Z2V1;Q8IWD4	.;CC117_HUMAN	D	77	ENSP00000249064:E77D;ENSP00000387827:E77D	ENSP00000249064:E77D	E	+	3	2	CCDC117	27499758	0.988000	0.35896	0.656000	0.29637	0.955000	0.61496	-0.014000	0.12656	-0.666000	0.05310	-0.367000	0.07326	GAG		0.368	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510	
RNF185	91445	broad.mit.edu	37	22	31591540	31591540	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:31591540G>T	ENST00000326132.6	+	4	440	c.281G>T	c.(280-282)aGg>aTg	p.R94M	RNF185_ENST00000426256.2_Intron|RNF185_ENST00000266252.7_Intron	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	94					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R94M(1)		NS(1)|large_intestine(1)|lung(3)|skin(1)	6						CTCTATGGAAGGGGCAGCACT	0.557																																					p.R94M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281T	22						.						82.0	61.0	68.0					22																	31591540		2203	4300	6503	29921540	SO:0001583	missense	91445	exon4				CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"""RING-type (C3HC4) zinc fingers"""	26783	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38628"""					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.281G>T	22.37:g.31591540G>T	ENSP00000320508:p.Arg94Met		29921540	NM_152267	A8K5C1|A9X3T8|Q8N900	Missense_Mutation	SNP	ENST00000326132.6	37	CCDS13890.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095402	0.94197	.	.	ENSG00000138942	ENST00000326132;ENST00000436825	D	0.96745	-4.11	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.91038	3.17	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.99157	1.0860	10	0.87932	D	0	.	19.2287	0.93829	0.0:0.0:1.0:0.0	.	94	Q96GF1	RN185_HUMAN	M	94	ENSP00000320508:R94M	ENSP00000320508:R94M	R	+	2	0	RNF185	29921540	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.797000	0.96272	0.561000	0.74099	AGG		0.557	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267	
LIMK2	3985	broad.mit.edu	37	22	31655964	31655964	+	Missense_Mutation	SNP	C	C	T	rs555588151		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:31655964C>T	ENST00000331728.4	+	5	566	c.452C>T	c.(451-453)aCg>aTg	p.T151M	LIMK2_ENST00000333611.4_Missense_Mutation_p.T130M|LIMK2_ENST00000406516.1_Missense_Mutation_p.T73M|LIMK2_ENST00000340552.4_Missense_Mutation_p.T130M|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	151					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.T151M(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TACTCTGTCACGCTCATCTCC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17536	0.0		0.0	False		,,,				2504	0.001				p.T151M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452T	22						.						66.0	58.0	61.0					22																	31655964		2203	4300	6503	29985964	SO:0001583	missense	3985	exon5			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.452C>T	22.37:g.31655964C>T	ENSP00000332687:p.Thr151Met		29985964	NM_005569	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165120	0.78339	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.74632	0.99;0.99;0.99;-0.86	5.63	3.57	0.40892	PDZ/DHR/GLGF (1);	0.160682	0.56097	N	0.000032	T	0.67813	0.2933	L	0.35341	1.055	0.80722	D	1	P;B;P;B	0.52316	0.952;0.322;0.921;0.029	P;B;B;B	0.47402	0.546;0.177;0.344;0.016	T	0.66559	-0.5893	10	0.45353	T	0.12	-5.2819	11.4135	0.49939	0.0:0.8549:0.0:0.1451	.	183;130;151;73	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	M	73;151;183;130;130	ENSP00000384602:T73M;ENSP00000332687:T151M;ENSP00000330470:T130M;ENSP00000339916:T130M	ENSP00000332687:T151M	T	+	2	0	LIMK2	29985964	0.998000	0.40836	0.999000	0.59377	0.951000	0.60555	3.842000	0.55858	0.755000	0.32990	-0.224000	0.12420	ACG		0.597	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
APOBEC3F	200316	broad.mit.edu	37	22	39448636	39448636	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:39448636C>A	ENST00000308521.5	+	7	1415	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	353					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P353H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCATTCAAGCCTTGGAAAGGA	0.463																																					p.P353H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1058A	22						.						185.0	185.0	185.0					22																	39448636		2203	4300	6503	37778582	SO:0001583	missense	200316	exon7			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.1058C>A	22.37:g.39448636C>A	ENSP00000309749:p.Pro353His		37778582	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.812837	0.32053	.	.	ENSG00000128394	ENST00000308521	T	0.65916	-0.18	2.79	0.439	0.16567	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.78836	0.4346	M	0.90705	3.14	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64833	-0.6314	9	0.87932	D	0	.	6.6748	0.23087	0.2021:0.6012:0.1967:0.0	.	353	Q8IUX4	ABC3F_HUMAN	H	353	ENSP00000309749:P353H	ENSP00000309749:P353H	P	+	2	0	APOBEC3F	37778582	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.089000	0.15002	0.196000	0.20367	0.400000	0.26472	CCT		0.463	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298	
SYNGR1	9145	broad.mit.edu	37	22	39772091	39772091	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:39772091C>T	ENST00000328933.5	+	3	387	c.372C>T	c.(370-372)tgC>tgT	p.C124C	SYNGR1_ENST00000318801.4_Silent_p.C124C|SYNGR1_ENST00000381535.4_Silent_p.C125C|SYNGR1_ENST00000406293.3_Silent_p.C124C	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	124	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)		p.C124C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGGGATTCTGCTACCTGGCCA	0.627																																					p.C125C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	22						.						118.0	130.0	126.0					22																	39772091		2203	4300	6503	38102037	SO:0001819	synonymous_variant	10454	exon3			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.372C>T	22.37:g.39772091C>T			38102037	NM_145738	A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	37	CCDS13989.1																																																																																				0.627	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711	
EP300	2033	broad.mit.edu	37	22	41525931	41525931	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:41525931C>T	ENST00000263253.7	+	5	2425	c.1206C>T	c.(1204-1206)caC>caT	p.H402H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	402					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.H402H(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCATTTCACACTGGAAGAATT	0.358			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.H402H			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1206T	22						.						126.0	114.0	118.0					22																	41525931		2203	4300	6503	39855877	SO:0001819	synonymous_variant	2033	exon5	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1206C>T	22.37:g.41525931C>T			39855877	NM_001429	B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																				0.358	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
WBP2NL	164684	broad.mit.edu	37	22	42415689	42415689	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:42415689C>A	ENST00000328823.9	+	3	226	c.195C>A	c.(193-195)tcC>tcA	p.S65S	WBP2NL_ENST00000543212.1_5'Flank	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	65	GRAM.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.S65S(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTTCATGCTCCATCAGTGATC	0.398																																					p.S65S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C195A	22						.						290.0	266.0	274.0					22																	42415689		2203	4300	6503	40745635	SO:0001819	synonymous_variant	164684	exon3			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.195C>A	22.37:g.42415689C>A			40745635	NM_152613	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	CCDS14029.1																																																																																				0.398	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613	
ARHGAP8	23779	broad.mit.edu	37	22	45204918	45204918	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:45204918T>G	ENST00000389774.2	+	5	473	c.332T>G	c.(331-333)gTc>gGc	p.V111G	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000356099.6_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000517296.3_Intron	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	111	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.V111G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		cccaggctggtctcgaactcc	0.507																																					p.V111G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T332G	22						.						1.0	1.0	1.0					22																	45204918		196	160	356	43583582	SO:0001583	missense	23779	exon5			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.332T>G	22.37:g.45204918T>G	ENSP00000374424:p.Val111Gly		43583582	NM_001017526	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	T	3.153	-0.173806	0.06421	.	.	ENSG00000241484	ENST00000389774;ENST00000396119	T	0.19669	2.13	0.474	-0.948	0.10379	Cellular retinaldehyde-binding/triple function, C-terminal (3);	.	.	.	.	T	0.11024	0.0269	.	.	.	0.19775	N	0.99996	P	0.36587	0.559	B	0.25884	0.064	T	0.14952	-1.0454	7	0.87932	D	0	.	.	.	.	.	111	P85298	RHG08_HUMAN	G	111	ENSP00000374424:V111G	ENSP00000374424:V111G	V	+	2	0	ARHGAP8	43583582	0.152000	0.22762	0.044000	0.18714	0.041000	0.13682	0.371000	0.20450	-0.572000	0.06006	-0.586000	0.04128	GTC		0.507	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701	
ARHGAP8	23779	broad.mit.edu	37	22	45255632	45255632	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:45255632T>C	ENST00000389774.2	+	12	1133	c.992T>C	c.(991-993)gTc>gCc	p.V331A	PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.V510A|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V422A|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V300A|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V431A|ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V510A	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	331	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.V336A(1)|p.V331A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGCCTGCGTGTCACTGGCTGC	0.672																																					p.V422A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1265C	22						.																																			43634296	SO:0001583	missense	553158	exon14			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.992T>C	22.37:g.45255632T>C	ENSP00000374424:p.Val331Ala		43634296	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.68|13.68	2.309026|2.309026	0.40895|0.40895	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000356099	.|T;T;T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92;0.92;0.92	4.14|4.14	4.14|4.14	0.48551|0.48551	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.32093	.|U	.|0.006591	T|T	0.52661|0.52661	0.1748|0.1748	L|L	0.35723|0.35723	1.085|1.085	0.36826|0.36826	D|D	0.886622|0.886622	.|P;D;B;D;P	.|0.89917	.|0.778;1.0;0.428;0.976;0.778	.|P;D;P;P;P	.|0.91635	.|0.45;0.999;0.579;0.851;0.45	T|T	0.59679|0.59679	-0.7409|-0.7409	5|10	.|0.45353	.|T	.|0.12	.|.	13.3016|13.3016	0.60328|0.60328	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|353;336;331;510;431	.|B7ZMA4;A2RU51;P85298;B1AHC4;B1AHC3	.|.;.;RHG08_HUMAN;.;.	P|A	371|431;510;510;422;331;300	.|ENSP00000354732:V431A;ENSP00000262731:V510A;ENSP00000429240:V510A;ENSP00000374423:V422A;ENSP00000374424:V331A;ENSP00000348407:V300A	.|ENSP00000348407:V300A	S|V	+|+	1|2	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43634296|43634296	1.000000|1.000000	0.71417|0.71417	0.208000|0.208000	0.23602|0.23602	0.020000|0.020000	0.10135|0.10135	4.033000|4.033000	0.57282|0.57282	1.727000|1.727000	0.51537|0.51537	0.383000|0.383000	0.25322|0.25322	TCA|GTC		0.672	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701	
PKDREJ	10343	broad.mit.edu	37	22	46655629	46655629	+	Silent	SNP	G	G	A	rs374543364		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:46655629G>A	ENST00000253255.5	-	1	3590	c.3591C>T	c.(3589-3591)taC>taT	p.Y1197Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1197					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.Y1197Y(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTAGGCCCACGTATAAGAGAA	0.423																																					p.Y1197Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3591T	22						.	G		0,4406		0,0,2203	125.0	127.0	127.0		3591	3.1	0.1	22		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKDREJ	NM_006071.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1197/2254	46655629	1,13005	2203	4300	6503	45034293	SO:0001819	synonymous_variant	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3591C>T	22.37:g.46655629G>A			45034293	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.423	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
TBC1D22A	25771	broad.mit.edu	37	22	47308004	47308004	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:47308004G>A	ENST00000337137.4	+	8	1101	c.935G>A	c.(934-936)cGc>cAc	p.R312H	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R265H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R265H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R234H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R253H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	312	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.R312H(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGGGCGATCCGCCACCCAGCC	0.383																																					p.R312H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935A	22						.						201.0	177.0	185.0					22																	47308004		2203	4300	6503	45686668	SO:0001583	missense	25771	exon8			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.935G>A	22.37:g.47308004G>A	ENSP00000336724:p.Arg312His		45686668	NM_014346	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529896	0.85706	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	5.56	5.56	0.83823	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	H	0.97077	3.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.945;0.997;0.998;0.945	T	0.55786	-0.8086	10	0.72032	D	0.01	.	18.1129	0.89541	0.0:0.0:1.0:0.0	.	312;234;253;312	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	312;265;253;234;265	ENSP00000336724:R312H;ENSP00000370383:R265H;ENSP00000384036:R253H;ENSP00000347932:R234H;ENSP00000385634:R265H	ENSP00000336724:R312H	R	+	2	0	TBC1D22A	45686668	1.000000	0.71417	0.989000	0.46669	0.471000	0.32888	8.917000	0.92751	2.599000	0.87857	0.655000	0.94253	CGC		0.383	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
ZBED4	9889	broad.mit.edu	37	22	50278540	50278540	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:50278540C>T	ENST00000216268.5	+	2	1707	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	410						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D410D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGATGGAAGACGTGGCGGCCT	0.577																																					p.D410D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1230T	22						.						62.0	66.0	64.0					22																	50278540		2203	4300	6503	48664544	SO:0001819	synonymous_variant	9889	exon2			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1230C>T	22.37:g.50278540C>T			48664544	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	CCDS33677.1																																																																																				0.577	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
TUBGCP6	85378	broad.mit.edu	37	22	50659599	50659599	+	Silent	SNP	G	G	A	rs117613659	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:50659599G>A	ENST00000248846.5	-	16	3293	c.3189C>T	c.(3187-3189)gtC>gtT	p.V1063V	TUBGCP6_ENST00000439308.2_Silent_p.V1063V|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1063	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.V1063V(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATTCTCCCCGACCCTGATGC	0.612																																					p.V1063V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3189T	22						.						134.0	136.0	135.0					22																	50659599		2203	4300	6503	49001726	SO:0001819	synonymous_variant	85378	exon16			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3189C>T	22.37:g.50659599G>A			49001726	NM_020461	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1																																																																																				0.612	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
CPT1B	1375	broad.mit.edu	37	22	51008727	51008727	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:51008727C>T	ENST00000360719.2	-	17	2274	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S	CPT1B_ENST00000395650.2_Missense_Mutation_p.G713S|CPT1B_ENST00000405237.3_Missense_Mutation_p.G713S|CPT1B_ENST00000457250.1_Missense_Mutation_p.G679S|CPT1B_ENST00000434492.2_Missense_Mutation_p.G508S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.G713S|CPT1B_ENST00000440709.1_Missense_Mutation_p.G632S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	713					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G713S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCACAGGGCCAAAGCCACCT	0.652																																					p.G713S	Esophageal Squamous(170;988 1933 25577 30295 48163)											CPT1B,central_nervous_system,brain,Substitution - coding silent,+2 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2137A	22						.						76.0	75.0	75.0					22																	51008727		2203	4300	6503	49355593	SO:0001583	missense	1375	exon17			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2137G>A	22.37:g.51008727C>T	ENSP00000353945:p.Gly713Ser		49355593	NM_152246	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563466	0.96527	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.96309	0.8796	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.64830	0.978;0.971;0.994;0.986	P;D;D;D	0.73708	0.837;0.981;0.981;0.956	D	0.96797	0.9586	10	0.87932	D	0	-20.4755	16.6911	0.85322	0.0:1.0:0.0:0.0	.	632;679;508;713	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	S	713;713;713;679;632;508;713	ENSP00000385486:G713S;ENSP00000312189:G713S;ENSP00000353945:G713S;ENSP00000409342:G679S;ENSP00000414713:G632S;ENSP00000410966:G508S;ENSP00000379011:G713S	ENSP00000312189:G713S	G	-	1	0	CPT1B	49355593	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.121000	0.77160	2.537000	0.85549	0.561000	0.74099	GGC		0.652	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
CPT1B	1375	broad.mit.edu	37	22	51015373	51015375	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	GAA	GAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr22:51015373_51015375delGAA	ENST00000360719.2	-	4	507_509	c.370_372delTTC	c.(370-372)ttcdel	p.F124del	CPT1B_ENST00000395650.2_In_Frame_Del_p.F124del|CPT1B_ENST00000405237.3_In_Frame_Del_p.F124del|CPT1B_ENST00000457250.1_In_Frame_Del_p.F124del|CPT1B_ENST00000434492.2_5'UTR|CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_In_Frame_Del_p.F124del|CPT1B_ENST00000440709.1_In_Frame_Del_p.F124del	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	124					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.F124delF(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GGGTTTGGCGGAAGAAGAAGATG	0.591											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.124_124del	Esophageal Squamous(170;988 1933 25577 30295 48163)											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.370_372del	22						.		,,,,,,	6,4256		3,0,2128					,,,,,,	5.4	1.0			135	17,8231		7,3,4114	no	coding,coding,coding,coding,coding,coding,coding	CPT1B	NM_152246.2,NM_152245.2,NM_004377.3,NM_001145137.1,NM_001145136.1,NM_001145135.1,NM_001145134.1	,,,,,,	10,3,6242	A1A1,A1R,RR		0.2061,0.1408,0.1839	,,,,,,	,,,,,,		23,12487				49362241	SO:0001651	inframe_deletion	1375	exon4			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.370_372delTTC	22.37:g.51015379_51015381delGAA	ENSP00000353945:p.Phe124del	974	49362239	NM_152246	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	In_Frame_Del	DEL	ENST00000360719.2	37	CCDS14098.1																																																																																				0.591	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
OTOF	9381	broad.mit.edu	37	2	26686406	26686407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:26686406_26686407insG	ENST00000272371.2	-	41	5262_5263	c.5136_5137insC	c.(5134-5139)cccatgfs	p.M1713fs	OTOF_ENST00000403946.3_Frame_Shift_Ins_p.M1713fs|OTOF_ENST00000338581.6_Frame_Shift_Ins_p.M946fs|OTOF_ENST00000402415.3_Frame_Shift_Ins_p.M1023fs|OTOF_ENST00000339598.3_Frame_Shift_Ins_p.M946fs	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1713					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.M946fs*31(1)|p.M1713fs*31(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATGTCCATGGGGAACATGT	0.653																																					p.M1023fs	GBM(102;732 1451 20652 24062 31372)											.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.3067_3068insC	2						.																																			26539911	SO:0001589	frameshift_variant	9381	exon23			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5137dupC	2.37:g.26686410_26686410dupG	ENSP00000272371:p.Met1713fs		26539910	NM_194322	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Frame_Shift_Ins	INS	ENST00000272371.2	37	CCDS1725.1																																																																																				0.653	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
UXS1	80146	broad.mit.edu	37	2	106729172	106729172	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:106729172C>T	ENST00000409501.3	-	10	851	c.794G>A	c.(793-795)cGc>cAc	p.R265H	UXS1_ENST00000283148.7_Missense_Mutation_p.R270H|UXS1_ENST00000428048.2_Missense_Mutation_p.R109H|UXS1_ENST00000409032.1_Missense_Mutation_p.R97H|UXS1_ENST00000540130.1_Missense_Mutation_p.R208H			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	265					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.R265H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CATGTGCATGCGTGGCCCAAA	0.612																																					p.R265H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	2						.						75.0	77.0	76.0					2																	106729172		2102	4227	6329	106095604	SO:0001583	missense	80146	exon10			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.794G>A	2.37:g.106729172C>T	ENSP00000387019:p.Arg265His		106095604	NM_025076	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259950	0.95368	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952;ENST00000416298;ENST00000444193	D;D;D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	5.25	5.25	0.73442	NAD-dependent epimerase/dehydratase (1);	0.060688	0.64402	D	0.000005	D	0.97377	0.9142	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.998;0.999	D	0.98188	1.0461	10	0.87932	D	0	.	18.4398	0.90662	0.0:1.0:0.0:0.0	.	109;270;265	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	H	270;208;265;97;109;109;97;97	ENSP00000283148:R270H;ENSP00000438265:R208H;ENSP00000387019:R265H;ENSP00000387096:R97H;ENSP00000394334:R109H;ENSP00000416656:R109H;ENSP00000403612:R97H;ENSP00000404468:R97H	ENSP00000283148:R270H	R	-	2	0	UXS1	106095604	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	6.730000	0.74780	2.452000	0.82932	0.561000	0.74099	CGC		0.612	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	
UXS1	80146	broad.mit.edu	37	2	106742111	106742111	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:106742111C>T	ENST00000409501.3	-	8	644	c.587G>A	c.(586-588)cGt>cAt	p.R196H	UXS1_ENST00000283148.7_Missense_Mutation_p.R201H|UXS1_ENST00000428048.2_Missense_Mutation_p.R40H|UXS1_ENST00000409032.1_Missense_Mutation_p.R28H|UXS1_ENST00000540130.1_Missense_Mutation_p.R139H			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	196					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.R196H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CAGGAGCAGACGGGCACCGAC	0.498																																					p.R196H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587A	2						.						46.0	49.0	48.0					2																	106742111		1935	4128	6063	106108543	SO:0001583	missense	80146	exon8			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.587G>A	2.37:g.106742111C>T	ENSP00000387019:p.Arg196His		106108543	NM_025076	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973665	0.92919	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952;ENST00000416298;ENST00000444193;ENST00000457835;ENST00000436241	D;D;D;D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.97	5.97	0.96955	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.157687	0.56097	D	0.000026	D	0.97558	0.9200	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.983;0.984;0.991	D	0.97587	1.0114	10	0.87932	D	0	-4.3451	20.4239	0.99064	0.0:1.0:0.0:0.0	.	40;201;196	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	H	201;139;196;28;40;40;28;28;139;28	ENSP00000283148:R201H;ENSP00000438265:R139H;ENSP00000387019:R196H;ENSP00000387096:R28H;ENSP00000394334:R40H;ENSP00000416656:R40H;ENSP00000403612:R28H;ENSP00000404468:R28H;ENSP00000399316:R139H;ENSP00000397049:R28H	ENSP00000283148:R201H	R	-	2	0	UXS1	106108543	1.000000	0.71417	0.936000	0.37596	0.565000	0.35776	7.324000	0.79115	2.828000	0.97474	0.655000	0.94253	CGT		0.498	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	
SH3RF3	344558	broad.mit.edu	37	2	110259085	110259085	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:110259085G>A	ENST00000309415.6	+	10	2486	c.2486G>A	c.(2485-2487)cGc>cAc	p.R829H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	829	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)	p.R829H(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCCAGGTACCGCGTGGTGGTC	0.547																																					p.R719H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2156A	2						.						50.0	52.0	51.0					2																	110259085		2105	4224	6329	109616367	SO:0001583	missense	344558	exon9			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2486G>A	2.37:g.110259085G>A	ENSP00000309186:p.Arg829His		109616367	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.573228	0.86542	.	.	ENSG00000172985	ENST00000309415	T	0.33654	1.4	4.93	4.93	0.64822	Src homology-3 domain (3);	0.000000	0.85682	U	0.000000	T	0.63343	0.2503	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68352	-0.5431	9	0.72032	D	0.01	-29.1624	18.5057	0.90896	0.0:0.0:1.0:0.0	.	829	Q8TEJ3	SH3R3_HUMAN	H	829	ENSP00000309186:R829H	ENSP00000309186:R829H	R	+	2	0	SH3RF3	109616367	1.000000	0.71417	0.987000	0.45799	0.819000	0.46315	7.591000	0.82666	2.430000	0.82344	0.561000	0.74099	CGC		0.547	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
ZC3H8	84524	broad.mit.edu	37	2	112991808	112991808	+	Silent	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:112991808A>C	ENST00000409573.2	-	5	639	c.510T>G	c.(508-510)ggT>ggG	p.G170G	ZC3H8_ENST00000272570.5_Silent_p.G170G|ZC3H8_ENST00000476902.1_5'Flank			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	170					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G170G(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						CTTTAGGTTTACCATCCTTTA	0.303																																					p.G170G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T510G	2						.						86.0	75.0	78.0					2																	112991808		1838	4096	5934	112708279	SO:0001819	synonymous_variant	84524	exon5			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.510T>G	2.37:g.112991808A>C			112708279	NM_032494	Q9BZ75	Silent	SNP	ENST00000409573.2	37	CCDS46392.1																																																																																				0.303	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494	
CCDC93	54520	broad.mit.edu	37	2	118705741	118705741	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:118705741T>C	ENST00000376300.2	-	15	1301	c.1164A>G	c.(1162-1164)gcA>gcG	p.A388A	CCDC93_ENST00000319432.5_Silent_p.A387A	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	388								p.A388A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGGCTACAAGTGCTCTCAGGT	0.398																																					p.A388A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1164G	2						.						199.0	200.0	200.0					2																	118705741		2203	4300	6503	118422211	SO:0001819	synonymous_variant	54520	exon15			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1164A>G	2.37:g.118705741T>C			118422211	NM_019044	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	CCDS2121.2																																																																																				0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	
C1QL2	165257	broad.mit.edu	37	2	119915204	119915204	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:119915204G>A	ENST00000272520.3	-	1	1261	c.642C>T	c.(640-642)ggC>ggT	p.G214G		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	214	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.G214G(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGGTGCCGTCGCCGCCGCGCA	0.637										HNSCC(49;0.14)																											p.G214G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	2						.						52.0	58.0	56.0					2																	119915204		2201	4300	6501	119631674	SO:0001819	synonymous_variant	165257	exon1			AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.642C>T	2.37:g.119915204G>A			119631674	NM_182528		Silent	SNP	ENST00000272520.3	37	CCDS42737.1																																																																																				0.637	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528	
C1QL2	165257	broad.mit.edu	37	2	119915747	119915747	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:119915747G>A	ENST00000272520.3	-	1	718	c.99C>T	c.(97-99)tgC>tgT	p.C33C		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	33				CD -> WE (in Ref. 1; AAP80787). {ECO:0000305}.	protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.C33C(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTAAGGGTCGCAGATCATGC	0.726										HNSCC(49;0.14)																											p.C33C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	2						.						6.0	7.0	7.0					2																	119915747		1677	3758	5435	119632217	SO:0001819	synonymous_variant	165257	exon1			AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.99C>T	2.37:g.119915747G>A			119632217	NM_182528		Silent	SNP	ENST00000272520.3	37	CCDS42737.1																																																																																				0.726	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528	
CNTNAP5	129684	broad.mit.edu	37	2	124783254	124783254	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:124783254C>T	ENST00000431078.1	+	1	391	c.27C>T	c.(25-27)agC>agT	p.S9S	CNTNAP5_ENST00000423939.2_3'UTR|AC079154.1_ENST00000438816.1_RNA	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	9					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S9S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTGACCAGCGTTTTGACTT	0.542																																					p.S9S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C27T	2						.						120.0	125.0	123.0					2																	124783254		1995	4165	6160	124499724	SO:0001819	synonymous_variant	129684	exon1			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.27C>T	2.37:g.124783254C>T			124499724	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CCDC74A	90557	broad.mit.edu	37	2	132289256	132289256	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:132289256C>T	ENST00000295171.6	+	4	702	c.564C>T	c.(562-564)ccC>ccT	p.P188P	CCDC74A_ENST00000467992.2_Silent_p.P290P|CCDC74A_ENST00000409856.3_Silent_p.P122P	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	188								p.P188P(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGCCCCAGCCCGGCTCCTTCA	0.572																																					p.P188P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C564T	2						.						20.0	38.0	33.0					2																	132289256		1727	4168	5895	132005726	SO:0001819	synonymous_variant	90557	exon4				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.564C>T	2.37:g.132289256C>T			132005726	NM_138770	Q6P4I5	Silent	SNP	ENST00000295171.6	37	CCDS2167.1																																																																																				0.572	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770	
NCKAP5	344148	broad.mit.edu	37	2	134060645	134060645	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:134060645A>G	ENST00000409261.1	-	4	480	c.107T>C	c.(106-108)cTg>cCg	p.L36P	NCKAP5_ENST00000409213.1_Missense_Mutation_p.L36P|NCKAP5_ENST00000405974.3_Missense_Mutation_p.L36P|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L36P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	36								p.L36P(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						AAGCTGAGTCAGCAGATGCTC	0.438																																					p.L36P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T107C	2						.						96.0	97.0	96.0					2																	134060645		1981	4164	6145	133777115	SO:0001583	missense	344148	exon4			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.107T>C	2.37:g.134060645A>G	ENSP00000387128:p.Leu36Pro		133777115	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.862|8.862	0.947229|0.947229	0.18356|0.18356	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834;ENST00000358991|ENST00000427594	T;T;T;T|.	0.55234|.	2.55;0.53;2.55;0.53|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|.	.|.	.|.	.|.	T|.	0.41743|.	0.1172|.	N|N	0.14661|0.14661	0.345|0.345	0.39784|0.39784	D|D	0.972341|0.972341	D;D;D;D|.	0.89917|.	0.998;0.998;0.999;1.0|.	D;D;D;D|.	0.81914|.	0.943;0.974;0.982;0.995|.	T|.	0.37174|.	-0.9717|.	9|.	0.66056|.	D|.	0.02|.	.|.	13.1242|13.1242	0.59344|0.59344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	36;11;36;36|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	P|R	36;36;36;36;36;11;36|32	ENSP00000387128:L36P;ENSP00000386952:L36P;ENSP00000380603:L36P;ENSP00000385692:L36P|.	ENSP00000380603:L36P|.	L|X	-|-	2|1	0|0	NCKAP5|NCKAP5	133777115|133777115	0.996000|0.996000	0.38824|0.38824	0.368000|0.368000	0.25939|0.25939	0.112000|0.112000	0.19704|0.19704	5.762000|5.762000	0.68809|0.68809	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	CTG|TGA		0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
RAB3GAP1	22930	broad.mit.edu	37	2	135891461	135891461	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:135891461T>C	ENST00000264158.8	+	15	1400	c.1357T>C	c.(1357-1359)Tct>Cct	p.S453P	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S409P|SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S453P	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	453					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.S453P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTCTGCACCATCTGACAGTTT	0.353																																					p.S453P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1357C	2						.						126.0	123.0	124.0					2																	135891461		2203	4300	6503	135607931	SO:0001583	missense	22930	exon15			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1357T>C	2.37:g.135891461T>C	ENSP00000264158:p.Ser453Pro		135607931	NM_012233	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537815	0.45176	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.41400	1.0;1.0;1.01	5.16	5.16	0.70880	.	0.385097	0.29451	N	0.012118	T	0.42426	0.1202	N	0.14661	0.345	0.42125	D	0.991441	D;D	0.71674	0.998;0.998	P;P	0.60682	0.878;0.878	T	0.30238	-0.9985	10	0.21540	T	0.41	-14.5053	15.288	0.73843	0.0:0.0:0.0:1.0	.	453;453	C9J837;Q15042	.;RB3GP_HUMAN	P	453;409;453	ENSP00000264158:S453P;ENSP00000444306:S409P;ENSP00000411418:S453P	ENSP00000264158:S453P	S	+	1	0	RAB3GAP1	135607931	0.998000	0.40836	0.999000	0.59377	0.994000	0.84299	2.466000	0.45084	2.079000	0.62486	0.482000	0.46254	TCT		0.353	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
RAB3GAP1	22930	broad.mit.edu	37	2	135922183	135922183	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:135922183G>A	ENST00000264158.8	+	23	2669	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E832K|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E876K|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	876					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E876K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGCCTGCTGGAGCAGCCTGA	0.527																																					p.E876K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2626A	2						.						120.0	99.0	106.0					2																	135922183		2203	4300	6503	135638653	SO:0001583	missense	22930	exon23			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2626G>A	2.37:g.135922183G>A	ENSP00000264158:p.Glu876Lys		135638653	NM_012233	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635762	0.47049	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46451	0.88;0.87;0.89	4.97	4.08	0.47627	.	0.230122	0.43260	D	0.000596	T	0.38639	0.1048	L	0.53249	1.67	0.80722	D	1	B;B	0.18461	0.001;0.028	B;B	0.11329	0.002;0.006	T	0.19712	-1.0297	10	0.21540	T	0.41	-14.202	15.5456	0.76097	0.0:0.1383:0.8617:0.0	.	876;876	C9J837;Q15042	.;RB3GP_HUMAN	K	876;832;876	ENSP00000264158:E876K;ENSP00000444306:E832K;ENSP00000411418:E876K	ENSP00000264158:E876K	E	+	1	0	RAB3GAP1	135638653	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.760000	0.91671	1.313000	0.45069	0.591000	0.81541	GAG		0.527	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
ZRANB3	84083	broad.mit.edu	37	2	136261918	136261918	+	Missense_Mutation	SNP	C	C	T	rs371776103		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:136261918C>T	ENST00000264159.6	-	2	258	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	ZRANB3_ENST00000536680.1_Missense_Mutation_p.A48T|ZRANB3_ENST00000401392.1_Missense_Mutation_p.A48T	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	48	DNA annealing helicase activity.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.A48S(1)|p.A48T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTTTTGAGGGCAAAAATGATG	0.343																																					p.A48T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G142A	2						.						94.0	87.0	89.0					2																	136261918		1812	4089	5901	135978388	SO:0001583	missense	84083	exon2			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.142G>A	2.37:g.136261918C>T	ENSP00000264159:p.Ala48Thr		135978388	NM_032143	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343890	0.82022	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.94138	-3.36;-3.36;-3.36	6.02	6.02	0.97574	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.977	D	0.95891	0.8907	10	0.54805	T	0.06	-7.1811	16.0374	0.80640	0.0:1.0:0.0:0.0	.	48;48	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	T	48	ENSP00000383979:A48T;ENSP00000264159:A48T;ENSP00000441320:A48T	ENSP00000264159:A48T	A	-	1	0	ZRANB3	135978388	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.998000	0.57024	2.857000	0.98124	0.650000	0.86243	GCC		0.343	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
LCT	3938	broad.mit.edu	37	2	136564885	136564885	+	Missense_Mutation	SNP	G	G	A	rs555708380	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:136564885G>A	ENST00000264162.2	-	9	3996	c.3986C>T	c.(3985-3987)aCg>aTg	p.T1329M	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1329	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.T1329M(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAACTTGACCGTGTAGCCATT	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		22276	0.0		0.0	False		,,,				2504	0.002				p.T1329M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3986T	2						.						184.0	155.0	165.0					2																	136564885		2203	4300	6503	136281355	SO:0001583	missense	3938	exon9			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3986C>T	2.37:g.136564885G>A	ENSP00000264162:p.Thr1329Met		136281355	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676779	0.67928	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.34472	1.36	5.87	4.98	0.66077	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.400351	0.31673	N	0.007246	T	0.52629	0.1746	M	0.71871	2.18	0.31735	N	0.636556	D	0.69078	0.997	D	0.64877	0.93	T	0.61907	-0.6966	10	0.66056	D	0.02	-20.6295	8.0986	0.30844	0.0:0.277:0.5367:0.1863	.	1329	P09848	LPH_HUMAN	M	1329;761	ENSP00000264162:T1329M	ENSP00000264162:T1329M	T	-	2	0	LCT	136281355	0.783000	0.28701	0.980000	0.43619	0.959000	0.62525	1.152000	0.31663	2.780000	0.95670	0.655000	0.94253	ACG		0.512	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
HNMT	3176	broad.mit.edu	37	2	138738851	138738851	+	Intron	SNP	C	C	T	rs555381356		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:138738851C>T	ENST00000280097.3	+	2	372				HNMT_ENST00000410115.1_Intron|HNMT_ENST00000485653.1_Intron|HNMT_ENST00000329366.4_Missense_Mutation_p.R86C	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase						brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.R86C(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GTGTAGCACCCGTCAGAAAGA	0.473																																					p.R86C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C256T	2						.						109.0	106.0	107.0					2																	138738851		2203	4300	6503	138455321	SO:0001627	intron_variant	3176	exon3				CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.190+11064C>T	2.37:g.138738851C>T			138455321	NM_001024075	B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878715	0.17395	.	.	ENSG00000150540	ENST00000329366	.	.	.	3.68	-7.15	0.01521	.	.	.	.	.	T	0.25606	0.0623	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	7	0.66056	D	0.02	.	6.2077	0.20612	0.1862:0.3355:0.0:0.4784	.	86	P50135-2	.	C	86	.	ENSP00000333259:R86C	R	+	1	0	HNMT	138455321	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.089000	0.11180	-1.805000	0.01239	-2.613000	0.00159	CGT		0.473	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1		
ZEB2	9839	broad.mit.edu	37	2	145156953	145156953	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:145156953G>A	ENST00000558170.2	-	8	2985	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	ZEB2_ENST00000303660.4_Missense_Mutation_p.R601C|ZEB2_ENST00000539609.3_Missense_Mutation_p.R577C|ZEB2_ENST00000409487.3_Missense_Mutation_p.R601C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	601					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.R601C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAAGGTAACGTTCATGCTGA	0.423																																					p.R577C	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1729T	2						.						149.0	150.0	150.0					2																	145156953		2203	4300	6503	144873423	SO:0001583	missense	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1801C>T	2.37:g.145156953G>A	ENSP00000454157:p.Arg601Cys		144873423	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957468	0.53400	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.16597	2.35;2.33;2.33;2.5	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.99;0.99;0.991	T	0.01508	-1.1337	10	0.87932	D	0	-7.0836	14.7537	0.69546	0.0:0.0:0.8555:0.1445	.	577;466;600;601	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	C	577;601;601;601	ENSP00000443792:R577C;ENSP00000302501:R601C;ENSP00000386854:R601C;ENSP00000395496:R601C	ENSP00000302501:R601C	R	-	1	0	ZEB2	144873423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.503000	0.73699	2.705000	0.92388	0.655000	0.94253	CGT		0.423	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ACVR2A	92	broad.mit.edu	37	2	148684746	148684746	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:148684746T>C	ENST00000241416.7	+	11	2081	c.1445T>C	c.(1444-1446)aTg>aCg	p.M482T	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Missense_Mutation_p.M374T|ACVR2A_ENST00000404590.1_Missense_Mutation_p.M482T	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	482	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.M482T(1)		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)		ATTACCCAGATGCAGAGACTA	0.423																																					p.M482T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1445C	2						.						124.0	112.0	116.0					2																	148684746		2203	4300	6503	148401216	SO:0001583	missense	92	exon11				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.1445T>C	2.37:g.148684746T>C	ENSP00000241416:p.Met482Thr		148401216	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.897927	0.52227	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83837	-1.77;-1.68;-1.77	6.07	6.07	0.98685	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073235	0.85682	D	0.000000	T	0.81607	0.4858	L	0.47716	1.5	0.80722	D	1	B	0.11235	0.004	B	0.28385	0.089	T	0.77448	-0.2584	10	0.62326	D	0.03	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	482	P27037	AVR2A_HUMAN	T	482;374;482	ENSP00000241416:M482T;ENSP00000439988:M374T;ENSP00000384338:M482T	ENSP00000241416:M482T	M	+	2	0	ACVR2A	148401216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.289000	0.72696	2.326000	0.78906	0.533000	0.62120	ATG		0.423	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
MBD5	55777	broad.mit.edu	37	2	149226511	149226511	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:149226511C>T	ENST00000407073.1	+	9	1996	c.999C>T	c.(997-999)ccC>ccT	p.P333P	MBD5_ENST00000404807.1_Silent_p.P333P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	333	Pro-rich.				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.P333P(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)		ACAAACCACCCCAAGGCCCAC	0.438																																					p.P333P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C999T	2						.						69.0	59.0	62.0					2																	149226511		2203	4300	6503	148942981	SO:0001819	synonymous_variant	55777	exon9			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.999C>T	2.37:g.149226511C>T			148942981	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	2.118	-0.402152	0.04865	.	.	ENSG00000204406	ENST00000416015	T	0.35236	1.32	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.36524	0.0970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05801	-1.0863	7	0.24483	T	0.36	-4.1603	8.9058	0.35523	0.1491:0.7764:0.0:0.0744	.	.	.	.	L	73	ENSP00000393168:P73L	ENSP00000393168:P73L	P	+	2	0	MBD5	148942981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.613000	0.46351	2.725000	0.93324	0.655000	0.94253	CCC		0.438	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
NEB	4703	broad.mit.edu	37	2	152582036	152582036	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:152582036C>A	ENST00000172853.10	-	6	480	c.333G>T	c.(331-333)caG>caT	p.Q111H	NEB_ENST00000397345.3_Missense_Mutation_p.Q111H|NEB_ENST00000427231.2_Missense_Mutation_p.Q111H|NEB_ENST00000604864.1_Missense_Mutation_p.Q111H|NEB_ENST00000409198.1_Missense_Mutation_p.Q111H|NEB_ENST00000603639.1_Missense_Mutation_p.Q111H			P20929	NEBU_HUMAN	nebulin	111					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.Q111H(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)		TGGCGTATGGCTGTCCTTTTG	0.398																																					p.Q111H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G333T	2						.						226.0	218.0	220.0					2																	152582036		1893	4113	6006	152290282	SO:0001583	missense	4703	exon6			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.333G>T	2.37:g.152582036C>A	ENSP00000172853:p.Gln111His		152290282	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	15.07	2.725020	0.48833	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.05925	3.37;3.38;3.38;3.37	6.17	3.01	0.34805	.	0.446739	0.23727	N	0.045162	T	0.06234	0.0161	L	0.28556	0.865	0.80722	D	1	P	0.35714	0.517	B	0.38921	0.285	T	0.44452	-0.9327	10	0.39692	T	0.17	.	10.9216	0.47167	0.0:0.724:0.0:0.276	.	111	P20929	NEBU_HUMAN	H	111	ENSP00000386259:Q111H;ENSP00000380505:Q111H;ENSP00000416578:Q111H;ENSP00000172853:Q111H	ENSP00000172853:Q111H	Q	-	3	2	NEB	152290282	0.994000	0.37717	1.000000	0.80357	0.833000	0.47200	0.346000	0.19997	0.937000	0.37394	0.655000	0.94253	CAG		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152584337	152584337	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:152584337C>T	ENST00000172853.10	-	5	309	c.162G>A	c.(160-162)caG>caA	p.Q54Q	NEB_ENST00000397345.3_Silent_p.Q54Q|NEB_ENST00000427231.2_Silent_p.Q54Q|NEB_ENST00000604864.1_Silent_p.Q54Q|NEB_ENST00000409198.1_Silent_p.Q54Q|NEB_ENST00000603639.1_Silent_p.Q54Q			P20929	NEBU_HUMAN	nebulin	54					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.Q54Q(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)		CCAGTGCTGGCTGTGCCAGAG	0.463																																					p.Q54Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G162A	2						.						65.0	64.0	64.0					2																	152584337		1927	4153	6080	152292583	SO:0001819	synonymous_variant	4703	exon5			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.162G>A	2.37:g.152584337C>T			152292583	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
GPD2	2820	broad.mit.edu	37	2	157407174	157407174	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:157407174C>A	ENST00000310454.6	+	8	1259	c.887C>A	c.(886-888)tCt>tAt	p.S296Y	GPD2_ENST00000409125.4_Missense_Mutation_p.S69Y|GPD2_ENST00000540309.1_Missense_Mutation_p.S296Y|GPD2_ENST00000409674.1_Missense_Mutation_p.S296Y|GPD2_ENST00000438166.2_Missense_Mutation_p.S296Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	296					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.S296F(1)|p.S296Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TTCACGGACTCTGTGCGCAAA	0.458																																					p.S296Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C887A	2						.						129.0	114.0	119.0					2																	157407174		2203	4300	6503	157115420	SO:0001583	missense	2820	exon8				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.887C>A	2.37:g.157407174C>A	ENSP00000308610:p.Ser296Tyr		157115420	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356661	0.61293	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.68	5.68	0.88126	FAD dependent oxidoreductase (1);	0.384148	0.33110	N	0.005280	D	0.89494	0.6731	M	0.89715	3.055	0.40405	D	0.979695	B	0.18166	0.026	B	0.40677	0.337	D	0.88192	0.2878	10	0.87932	D	0	.	19.7855	0.96434	0.0:1.0:0.0:0.0	.	296	P43304	GPDM_HUMAN	Y	296;69;296;296;296	ENSP00000308610:S296Y;ENSP00000386484:S69Y;ENSP00000409708:S296Y;ENSP00000440892:S296Y;ENSP00000386425:S296Y	ENSP00000308610:S296Y	S	+	2	0	GPD2	157115420	0.195000	0.23338	0.237000	0.24090	0.980000	0.70556	3.113000	0.50376	2.675000	0.91044	0.563000	0.77884	TCT		0.458	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		
BAZ2B	29994	broad.mit.edu	37	2	160294859	160294859	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:160294859G>T	ENST00000392783.2	-	8	1743	c.1248C>A	c.(1246-1248)acC>acA	p.T416T	BAZ2B_ENST00000392782.1_Silent_p.T414T|BAZ2B_ENST00000355831.2_Silent_p.T416T|BAZ2B_ENST00000343439.5_Silent_p.T414T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	416					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.T416T(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						ATTCTTCAGAGGTATTTTTAT	0.323																																					p.T416T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1248A	2						.						58.0	55.0	56.0					2																	160294859		1805	4070	5875	160003105	SO:0001819	synonymous_variant	29994	exon8			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.1248C>A	2.37:g.160294859G>T			160003105	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	CCDS2209.2																																																																																				0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
TANK	10010	broad.mit.edu	37	2	162036210	162036210	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:162036210T>C	ENST00000392749.2	+	2	276	c.37T>C	c.(37-39)Tat>Cat	p.Y13H	TANK_ENST00000403609.1_Missense_Mutation_p.Y13H|TANK_ENST00000405852.1_Missense_Mutation_p.Y13H|TANK_ENST00000402568.1_Missense_Mutation_p.Y71H|TANK_ENST00000259075.2_Missense_Mutation_p.Y13H|TANK_ENST00000457476.1_Missense_Mutation_p.Y13H|TANK_ENST00000406287.1_Missense_Mutation_p.Y71H	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	13					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.Y13H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAATAAAGCGTATGAAGCCTT	0.398																																					p.Y13H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T37C	2						.						126.0	117.0	120.0					2																	162036210		2203	4300	6503	161744456	SO:0001583	missense	10010	exon2			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.37T>C	2.37:g.162036210T>C	ENSP00000376505:p.Tyr13His		161744456	NM_001199135	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254659	0.80135	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T;T;T	0.60040	0.7;0.7;2.05;0.22;2.05	6.03	6.03	0.97812	.	0.062767	0.64402	D	0.000003	T	0.67998	0.2953	L	0.34521	1.04	0.43913	D	0.996558	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.71073	-0.4698	10	0.87932	D	0	-12.0307	16.2216	0.82262	0.0:0.0:0.0:1.0	.	13;13	Q92844;Q7Z4J6	TANK_HUMAN;.	H	13;13;13;13;13;13;71;71;13;39;13	ENSP00000259075:Y13H;ENSP00000376505:Y13H;ENSP00000384492:Y71H;ENSP00000385487:Y13H;ENSP00000392776:Y39H	ENSP00000259075:Y13H	Y	+	1	0	TANK	161744456	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.077000	0.71275	2.313000	0.78055	0.454000	0.30748	TAT		0.398	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484	
GCG	2641	broad.mit.edu	37	2	163003950	163003950	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:163003950C>T	ENST00000418842.2	-	3	421	c.167G>A	c.(166-168)gGc>gAc	p.G56D	GCG_ENST00000375497.3_Missense_Mutation_p.G56D	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	56					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.G56D(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						GGTGAATGTGCCCTGTGAATG	0.488																																					p.G56D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	2						.						271.0	269.0	270.0					2																	163003950		2061	4203	6264	162712196	SO:0001583	missense	2641	exon3				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.167G>A	2.37:g.163003950C>T	ENSP00000387662:p.Gly56Asp		162712196	NM_002054	A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225203	0.95173	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.69806	-0.43;-0.43	5.64	5.64	0.86602	Glucagon/GIP/secretin/VIP (4);	0.045903	0.85682	D	0.000000	D	0.86385	0.5920	M	0.92169	3.28	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	D	0.88606	0.3153	10	0.87932	D	0	1.0E-4	19.8946	0.96949	0.0:1.0:0.0:0.0	.	56	P01275	GLUC_HUMAN	D	56	ENSP00000387662:G56D;ENSP00000364647:G56D	ENSP00000364647:G56D	G	-	2	0	GCG	162712196	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	7.502000	0.81614	2.937000	0.99478	0.650000	0.86243	GGC		0.488	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054	
GRB14	2888	broad.mit.edu	37	2	165364982	165364982	+	Missense_Mutation	SNP	C	C	T	rs368925193		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:165364982C>T	ENST00000263915.3	-	8	1544	c.1006G>A	c.(1006-1008)Gcg>Acg	p.A336T	GRB14_ENST00000543549.1_Missense_Mutation_p.A249T	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	336	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.A336T(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AATCTAATCGCGGTCACCCAG	0.463																																					p.A336T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1006A	2						.	C	THR/ALA	0,4406		0,0,2203	86.0	85.0	86.0		1006	5.8	1.0	2		86	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRB14	NM_004490.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	336/541	165364982	2,13004	2203	4300	6503	165073228	SO:0001583	missense	2888	exon8				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1006G>A	2.37:g.165364982C>T	ENSP00000263915:p.Ala336Thr		165073228	NM_004490	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317053	0.95682	0.0	2.33E-4	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.79247	-1.25;-1.25;-1.25	5.84	5.84	0.93424	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90027	0.6886	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.90649	0.4581	10	0.87932	D	0	-7.8045	20.1454	0.98074	0.0:1.0:0.0:0.0	.	249;336	B7Z7F9;Q14449	.;GRB14_HUMAN	T	336;249;291	ENSP00000263915:A336T;ENSP00000443699:A249T;ENSP00000416786:A291T	ENSP00000263915:A336T	A	-	1	0	GRB14	165073228	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	7.294000	0.78760	2.748000	0.94277	0.650000	0.86243	GCG		0.463	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
SCN9A	6335	broad.mit.edu	37	2	167128972	167128972	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:167128972G>A	ENST00000409435.1	-	16	3287	c.3288C>T	c.(3286-3288)tcC>tcT	p.S1096S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.S1097S|SCN9A_ENST00000409672.1_Silent_p.S1085S|SCN9A_ENST00000303354.6_Silent_p.S1097S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1096					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S1085S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCCAAATCGGATTCCCCAG	0.413																																					p.S1085S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3255T	2						.						71.0	65.0	67.0					2																	167128972		1897	4121	6018	166837218	SO:0001819	synonymous_variant	6335	exon17			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3288C>T	2.37:g.167128972G>A			166837218	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.413	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
METTL5	29081	broad.mit.edu	37	2	170681024	170681024	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:170681024C>A	ENST00000260953.5	-	1	400	c.84G>T	c.(82-84)caG>caT	p.Q28H	METTL5_ENST00000392640.2_Missense_Mutation_p.Q28H|METTL5_ENST00000409340.1_Missense_Mutation_p.Q28H|METTL5_ENST00000409837.1_Missense_Mutation_p.Q28H|METTL5_ENST00000410097.1_Missense_Mutation_p.Q28H|METTL5_ENST00000308099.3_Missense_Mutation_p.Q28H|UBR3_ENST00000418381.1_5'Flank|METTL5_ENST00000409965.1_Missense_Mutation_p.Q28H|UBR3_ENST00000272793.5_5'Flank	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	28							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.Q28H(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TGGTAGGATACTGTTCCAGAA	0.468											OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q28H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G84T	2						.						177.0	174.0	175.0					2																	170681024		2203	4300	6503	170389270	SO:0001583	missense	29081	exon1			AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.84G>T	2.37:g.170681024C>A	ENSP00000260953:p.Gln28His	1887	170389270	NM_014168	D3DPC9|Q9NVX1	Missense_Mutation	SNP	ENST00000260953.5	37	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318791	0.81469	.	.	ENSG00000138382	ENST00000409837;ENST00000540464;ENST00000409340;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097;ENST00000538491	T;T;T;T;T;T;T	0.55760	0.98;0.5;0.98;0.98;0.98;0.98;0.98	5.63	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.83150	-0.0104	10	0.87932	D	0	-17.4789	10.4788	0.44680	0.0:0.7913:0.0:0.2087	.	28;28	B8ZZC8;Q9NRN9	.;METL5_HUMAN	H	28	ENSP00000386703:Q28H;ENSP00000387106:Q28H;ENSP00000260953:Q28H;ENSP00000386582:Q28H;ENSP00000376415:Q28H;ENSP00000307903:Q28H;ENSP00000387056:Q28H	ENSP00000260953:Q28H	Q	-	3	2	METTL5	170389270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.261000	0.32980	0.733000	0.32492	0.557000	0.71058	CAG		0.468	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	
METTL8	79828	broad.mit.edu	37	2	172196031	172196031	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:172196031T>C	ENST00000375258.4	-	4	484	c.269A>G	c.(268-270)gAc>gGc	p.D90G		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	90						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.D40G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GTAAAATGTGTCCCAGTATTT	0.303																																					p.D90G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A269G	2						.						38.0	39.0	39.0					2																	172196031		2202	4293	6495	171904277	SO:0001583	missense	79828	exon4			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.269A>G	2.37:g.172196031T>C	ENSP00000364407:p.Asp90Gly		171904277	NM_024770	Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37		.	.	.	.	.	.	.	.	.	.	T	19.27	3.795724	0.70452	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846	T;T;T;T	0.22336	3.56;1.96;1.96;1.96	5.84	5.84	0.93424	.	0.214094	0.47455	D	0.000225	T	0.37156	0.0993	M	0.88775	2.98	0.46222	D	0.998939	B;B;P	0.41910	0.245;0.335;0.764	B;B;B	0.40825	0.16;0.301;0.341	T	0.47249	-0.9132	10	0.72032	D	0.01	-3.801	16.2183	0.82241	0.0:0.0:0.0:1.0	.	45;90;90	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	G	90	ENSP00000364407:D90G;ENSP00000376377:D90G;ENSP00000404646:D90G;ENSP00000411589:D90G	ENSP00000364407:D90G	D	-	2	0	METTL8	171904277	1.000000	0.71417	0.950000	0.38849	0.930000	0.56654	5.735000	0.68587	2.234000	0.73211	0.477000	0.44152	GAC		0.303	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770	
CYBRD1	79901	broad.mit.edu	37	2	172409983	172409983	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:172409983G>A	ENST00000321348.4	+	3	728	c.530G>A	c.(529-531)gGa>gAa	p.G177E	CYBRD1_ENST00000375252.3_Silent_p.G107G|CYBRD1_ENST00000409484.1_Missense_Mutation_p.G119E	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	177	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)	p.G177E(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GCACTTATGGGATTGACAGAG	0.383																																					p.G177E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	2						.						106.0	94.0	98.0					2																	172409983		2203	4300	6503	172118229	SO:0001583	missense	79901	exon3			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.530G>A	2.37:g.172409983G>A	ENSP00000319141:p.Gly177Glu		172118229	NM_024843	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113719	0.77210	.	.	ENSG00000071967	ENST00000409484;ENST00000321348;ENST00000445146	T;T;T	0.67345	-0.26;-0.26;-0.26	5.78	5.78	0.91487	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85050	0.0928	9	0.87932	D	0	-13.4592	19.6088	0.95594	0.0:0.0:1.0:0.0	.	177	Q53TN4	CYBR1_HUMAN	E	119;177;138	ENSP00000386739:G119E;ENSP00000319141:G177E;ENSP00000402242:G138E	ENSP00000319141:G177E	G	+	2	0	CYBRD1	172118229	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.311000	0.89973	2.734000	0.93682	0.563000	0.77884	GGA		0.383	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843	
DYNC1I2	1781	broad.mit.edu	37	2	172582223	172582223	+	Splice_Site	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:172582223G>T	ENST00000397119.3	+	8	774	c.607G>T	c.(607-609)Gct>Tct	p.A203S	DYNC1I2_ENST00000410079.3_Splice_Site_p.A195S|DYNC1I2_ENST00000534253.2_Splice_Site_p.A203S|DYNC1I2_ENST00000409773.1_Splice_Site_p.A203S|DYNC1I2_ENST00000409197.1_Splice_Site_p.A177S|DYNC1I2_ENST00000409317.1_Splice_Site_p.A197S|DYNC1I2_ENST00000340296.4_Splice_Site_p.A177S|DYNC1I2_ENST00000409453.1_Splice_Site_p.A203S|DYNC1I2_ENST00000508530.1_Splice_Site_p.A177S|DYNC1I2_ENST00000263811.4_Splice_Site_p.A197S|DYNC1I2_ENST00000358002.6_Splice_Site_p.A195S	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	203					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.A203S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGATAGTAAAGGTATCTTAAG	0.294																																					p.A203S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607T	2						.						29.0	27.0	27.0					2																	172582223		1795	4044	5839	172290469	SO:0001630	splice_region_variant	1781	exon8			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.607+1G>T	2.37:g.172582223G>T			172290469	NM_001378	B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658142	0.47467	.	.	ENSG00000077380	ENST00000452242;ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002;ENST00000435234;ENST00000425485	T;T;T;T;T;T;T;T;T;T;T	0.75938	-0.82;-0.98;-0.83;-0.75;-0.6;-0.6;-0.82;-0.83;-0.75;-0.61;-0.6	5.99	5.11	0.69529	.	0.286590	0.43747	D	0.000531	T	0.66228	0.2768	L	0.46157	1.445	0.46774	D	0.999199	B;B;B;B;B	0.16603	0.002;0.01;0.003;0.002;0.018	B;B;B;B;B	0.18263	0.01;0.009;0.009;0.009;0.021	T	0.60939	-0.7163	10	0.09338	T	0.73	-0.2994	14.9719	0.71241	0.0678:0.0:0.9322:0.0	.	195;197;177;177;203	B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	S	197;177;203;197;203;195;177;177;197;203;203;195;177;177	ENSP00000339430:A177S;ENSP00000433791:A203S;ENSP00000263811:A197S;ENSP00000380308:A203S;ENSP00000386522:A195S;ENSP00000423339:A177S;ENSP00000386397:A177S;ENSP00000386591:A197S;ENSP00000386415:A203S;ENSP00000386886:A203S;ENSP00000350692:A195S	ENSP00000263811:A197S	A	+	1	0	DYNC1I2	172290469	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	1.917000	0.39996	1.533000	0.49186	0.655000	0.94253	GCT		0.294	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378	Missense_Mutation
DYNC1I2	1781	broad.mit.edu	37	2	172584421	172584421	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:172584421C>T	ENST00000397119.3	+	12	1254	c.1087C>T	c.(1087-1089)Cgt>Tgt	p.R363C	DYNC1I2_ENST00000410079.3_Missense_Mutation_p.R355C|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.R363C|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.R363C|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.R337C|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.R357C|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.R337C|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.R363C|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.R337C|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.R357C|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.R355C	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	363					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.R363C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TTGGGATAACCGTAGCAATAA	0.408																																					p.R363C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1087T	2						.						80.0	74.0	76.0					2																	172584421		1898	4127	6025	172292667	SO:0001583	missense	1781	exon12			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1087C>T	2.37:g.172584421C>T	ENSP00000380308:p.Arg363Cys		172292667	NM_001378	B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813173	0.70912	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	6.01	6.01	0.97437	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	0.89192	0.6645	M	0.93678	3.445	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	0.999;0.999;1.0;1.0;1.0;0.999	D	0.90743	0.4651	10	0.87932	D	0	-12.2187	20.5211	0.99222	0.0:1.0:0.0:0.0	.	86;355;357;337;337;363	B4DX93;B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;.;DC1I2_HUMAN	C	337;363;357;363;355;337;337;357;363;363;355	ENSP00000339430:R337C;ENSP00000433791:R363C;ENSP00000263811:R357C;ENSP00000380308:R363C;ENSP00000386522:R355C;ENSP00000423339:R337C;ENSP00000386397:R337C;ENSP00000386591:R357C;ENSP00000386415:R363C;ENSP00000386886:R363C;ENSP00000350692:R355C	ENSP00000263811:R357C	R	+	1	0	DYNC1I2	172292667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.913000	0.63341	2.861000	0.98227	0.650000	0.86243	CGT		0.408	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378	
ZAK	51776	broad.mit.edu	37	2	174125845	174125845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:174125845G>T	ENST00000375213.3	+	18	1609	c.1531G>T	c.(1531-1533)Gag>Tag	p.E511*	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Nonsense_Mutation_p.E511*	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		511					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.E511*(1)									TCAGACTGTGGAGTGCACTGT	0.413																																					p.E511X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1531T	2						.						137.0	132.0	134.0					2																	174125845		1962	4137	6099	173834091	SO:0001587	stop_gained	51776	exon18																														ENST00000375213.3:c.1531G>T	2.37:g.174125845G>T	ENSP00000364361:p.Glu511*		173834091	NM_016653	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Nonsense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	39	7.902838	0.98551	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	.	.	.	5.57	5.57	0.84162	.	0.094699	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5513	0.95322	0.0:0.0:1.0:0.0	.	.	.	.	X	511	.	ENSP00000364361:E511X	E	+	1	0	AC013461.1	173834091	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.198000	0.94994	2.616000	0.88540	0.484000	0.47621	GAG		0.413	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
AGPS	8540	broad.mit.edu	37	2	178357901	178357901	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:178357901T>G	ENST00000264167.4	+	12	1405	c.1259T>G	c.(1258-1260)cTc>cGc	p.L420R	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	420					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.L420R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TCTATTCGCCTCATGGACAAC	0.338																																					p.L420R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1259G	2						.						97.0	99.0	98.0					2																	178357901		2203	4300	6503	178066147	SO:0001583	missense	8540	exon12			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1259T>G	2.37:g.178357901T>G	ENSP00000264167:p.Leu420Arg		178066147	NM_003659	A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604170	0.87157	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.86865	-2.18	5.66	5.66	0.87406	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.117941	0.64402	D	0.000015	D	0.94371	0.8190	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95305	0.8407	10	0.87932	D	0	.	15.8709	0.79119	0.0:0.0:0.0:1.0	.	420	O00116	ADAS_HUMAN	R	420;290	ENSP00000264167:L420R	ENSP00000264167:L420R	L	+	2	0	AGPS	178066147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.016000	0.76393	2.151000	0.67156	0.528000	0.53228	CTC		0.338	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		
PDE11A	50940	broad.mit.edu	37	2	178936561	178936561	+	Missense_Mutation	SNP	G	G	A	rs77063376	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:178936561G>A	ENST00000286063.6	-	1	921	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	202					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.R202C(1)|p.R202S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AAGAACTGACGCTCATTATGC	0.478									Primary Pigmented Nodular Adrenocortical Disease, Familial				G|||	72	0.014377	0.0	0.0	5008	,	,		21999	0.0685		0.0	False		,,,				2504	0.0031				p.R202C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C604T	2						.	G	,CYS/ARG	0,4406		0,0,2203	119.0	105.0	110.0		,604	5.3	1.0	2	dbSNP_131	110	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	PDE11A	NM_001077197.1,NM_016953.3	,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,202/934	178936561	1,13005	2203	4300	6503	178644807	SO:0001583	missense	50940	exon1	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.604C>T	2.37:g.178936561G>A	ENSP00000286063:p.Arg202Cys		178644807	NM_016953	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	47	0.02152014652014652	0	0.0	0	0.0	47	0.08216783216783216	0	0.0	G	13.66	2.304777	0.40795	0.0	1.16E-4	ENSG00000128655	ENST00000286063	T	0.69435	-0.4	5.28	5.28	0.74379	.	0.160316	0.52532	D	0.000071	T	0.11024	0.0269	L	0.39245	1.2	0.80722	D	1	D	0.76494	0.999	P	0.56127	0.792	T	0.31447	-0.9943	10	0.36615	T	0.2	.	12.9262	0.58262	0.0:0.0:0.8379:0.1621	.	202	Q9HCR9	PDE11_HUMAN	C	202	ENSP00000286063:R202C	ENSP00000286063:R202C	R	-	1	0	PDE11A	178644807	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.851000	0.48302	2.473000	0.83533	0.655000	0.94253	CGT		0.478	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
TTN	7273	broad.mit.edu	37	2	179396492	179396492	+	Silent	SNP	C	C	T	rs556443213		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:179396492C>T	ENST00000591111.1	-	308	100151	c.99927G>A	c.(99925-99927)tcG>tcA	p.S33309S	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.S26077S|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Silent_p.S34950S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Silent_p.S32382S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000359218.5_Silent_p.S26010S|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Silent_p.S25885S|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33309	Ig-like 146.				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.S26077S(1)|p.S32380S(1)|p.S25885S(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)			GTACCCTGTGCGAGCGCATTC	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		22753	0.001		0.0	False		,,,				2504	0.0				p.R25885H												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G77654A	2						.						89.0	88.0	88.0					2																	179396492		2003	4164	6167	179104738	SO:0001819	synonymous_variant	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.99927G>A	2.37:g.179396492C>T			179104738	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	179412319	179412319	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:179412319A>G	ENST00000591111.1	-	289	89335	c.89111T>C	c.(89110-89112)aTa>aCa	p.I29704T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22472T|TTN_ENST00000589042.1_Missense_Mutation_p.I31345T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I28777T|TTN_ENST00000359218.5_Missense_Mutation_p.I22405T|TTN_ENST00000460472.2_Missense_Mutation_p.I22280T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29704	Fibronectin type-III 116. {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.I28775T(1)|p.I22472T(1)|p.I22280T(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)			CTTTTCAACTATGTAATTAGT	0.448																																					p.X22280Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T66838C	2						.						110.0	110.0	110.0					2																	179412319		1929	4136	6065	179120565	SO:0001583	missense	7273	exon167			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89111T>C	2.37:g.179412319A>G	ENSP00000465570:p.Ile29704Thr		179120565	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		.	.	.	.	.	.	.	.	.	.	A	15.73	2.918390	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65112	0.2660	L	0.39020	1.185	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;0.998;0.998	T	0.67937	-0.5541	9	0.87932	D	0	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	22280;22405;22472;29704	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	28777;22280;22472;22405;22277	ENSP00000343764:I28777T;ENSP00000434586:I22280T;ENSP00000340554:I22472T;ENSP00000352154:I22405T	ENSP00000340554:I22472T	I	-	2	0	TTN	179120565	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.255000	0.74692	0.533000	0.62120	ATA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179418738	179418738	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:179418738T>C	ENST00000591111.1	-	283	84401	c.84177A>G	c.(84175-84177)gaA>gaG	p.E28059E	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.E20827E|TTN_ENST00000589042.1_Silent_p.E29700E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.E27132E|TTN_ENST00000359218.5_Silent_p.E20760E|TTN_ENST00000460472.2_Silent_p.E20635E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28059	Fibronectin type-III 104. {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.E20827E(1)|p.E20635E(1)|p.E27130E(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)			AGTCACTGTTTTCTGTGAGTC	0.408																																					p.K20635R												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A61904G	2						.						147.0	145.0	146.0					2																	179418738		1903	4125	6028	179126984	SO:0001819	synonymous_variant	7273	exon161			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.84177A>G	2.37:g.179418738T>C			179126984	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																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179425988	179425988	+	Missense_Mutation	SNP	G	G	A	rs192152102	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:179425988G>A	ENST00000591111.1	-	276	80172	c.79948C>T	c.(79948-79950)Cgc>Tgc	p.R26650C	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19418C|TTN_ENST00000589042.1_Missense_Mutation_p.R28291C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25723C|TTN_ENST00000359218.5_Missense_Mutation_p.R19351C|TTN_ENST00000460472.2_Missense_Mutation_p.R19226C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26650	Fibronectin type-III 94. {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.R25721C(1)|p.R19418C(1)|p.R19226C(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)			AGTTCTCTGCGTTCAACAATG	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		23229	0.0		0.002	False		,,,				2504	0.0				p.N19225N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C57675T	2						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3906		0,0,1953	142.0	125.0	131.0		57676,77167,58051,58252	4.8	1.0	2		131	6,8278		0,6,4136	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	180,180,180,180	0,6,6089	AA,AG,GG		0.0724,0.0,0.0492	probably-damaging,probably-damaging,probably-damaging,probably-damaging	19226/26927,25723/33424,19351/27052,19418/27119	179425988	6,12184	1953	4142	6095	179134234	SO:0001583	missense	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.79948C>T	2.37:g.179425988G>A	ENSP00000465570:p.Arg26650Cys		179134234	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		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.86	1.764883	0.31228	0.0	7.24E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.67	4.79	0.61399	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68933	0.3055	M	0.79343	2.45	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.65773	0.938;0.938;0.938;0.91	T	0.72418	-0.4300	9	0.87932	D	0	.	9.8507	0.41055	0.0708:0.0:0.7913:0.138	.	19226;19351;19418;26650	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	25723;19226;19418;19351;19224	ENSP00000343764:R25723C;ENSP00000434586:R19226C;ENSP00000340554:R19418C;ENSP00000352154:R19351C	ENSP00000340554:R19418C	R	-	1	0	TTN	179134234	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.711000	0.61881	1.375000	0.46248	0.484000	0.47621	CGC		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179474079	179474079	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:179474079G>C	ENST00000591111.1	-	223	47259	c.47035C>G	c.(47035-47037)Cag>Gag	p.Q15679E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q8447E|TTN_ENST00000589042.1_Missense_Mutation_p.Q17320E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q14752E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q8380E|TTN_ENST00000460472.2_Missense_Mutation_p.Q8255E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15679	Ig-like 98.				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.Q8255E(1)|p.Q8447E(1)|p.Q14752E(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)			CTCAAACGCTGTGTCAGAGGC	0.448																																					p.Q8255E												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C24763G	2						.						130.0	128.0	128.0					2																	179474079		1964	4158	6122	179182324	SO:0001583	missense	7273	exon101			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.47035C>G	2.37:g.179474079G>C	ENSP00000465570:p.Gln15679Glu		179182324	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	8.950	0.967944	0.18659	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.72	-0.791	0.10929	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18383	0.0441	N	0.00960	-1.095	0.24784	N	0.992793	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	0.20840	-1.0263	9	0.87932	D	0	.	15.9421	0.79763	0.0974:0.3926:0.5101:0.0	.	8255;8380;8447;15679	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14752;8255;8447;8380;8255	ENSP00000343764:Q14752E;ENSP00000434586:Q8255E;ENSP00000340554:Q8447E;ENSP00000352154:Q8380E	ENSP00000340554:Q8447E	Q	-	1	0	TTN	179182324	1.000000	0.71417	0.327000	0.25402	0.645000	0.38454	3.089000	0.50183	-0.503000	0.06586	-0.302000	0.09304	CAG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179569629	179569629	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:179569629A>G	ENST00000591111.1	-	102	28942	c.28718T>C	c.(28717-28719)aTt>aCt	p.I9573T	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I9890T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8646T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13657					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.I8646T(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)			TCTTTGCTGAATAAATGATAC	0.323																																					p.I8646T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T25937C	2						.						136.0	134.0	135.0					2																	179569629		1819	4079	5898	179277874	SO:0001583	missense	7273	exon101			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.28718T>C	2.37:g.179569629A>G	ENSP00000465570:p.Ile9573Thr		179277874	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		.	.	.	.	.	.	.	.	.	.	A	12.83	2.055393	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	5.99	5.99	0.97316	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.61602	0.2360	L	0.47716	1.5	0.80722	D	1	P	0.48764	0.915	B	0.39465	0.3	T	0.68104	-0.5497	9	0.87932	D	0	.	16.4892	0.84195	1.0:0.0:0.0:0.0	.	9573	Q8WZ42	TITIN_HUMAN	T	8646	ENSP00000343764:I8646T	ENSP00000343764:I8646T	I	-	2	0	TTN	179277874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.783000	0.75078	2.296000	0.77279	0.533000	0.62120	ATT		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAJC10	54431	broad.mit.edu	37	2	183616840	183616840	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:183616840A>G	ENST00000264065.7	+	16	1891	c.1476A>G	c.(1474-1476)agA>agG	p.R492R		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	492	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.R492R(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)			AGTTACGAAGAGCATCAAATC	0.393																																					p.R492R	Pancreas(56;860 1183 25669 35822 48585)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1476G	2						.						164.0	148.0	153.0					2																	183616840		2203	4300	6503	183325085	SO:0001819	synonymous_variant	54431	exon16				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.1476A>G	2.37:g.183616840A>G			183325085	NM_018981	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	CCDS33345.1																																																																																				0.393	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
NUP35	129401	broad.mit.edu	37	2	183995219	183995219	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:183995219T>C	ENST00000295119.4	+	3	388	c.285T>C	c.(283-285)taT>taC	p.Y95Y	NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000409798.1_Silent_p.Y78Y|NUP35_ENST00000541912.1_5'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	95					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y95Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GAAGTATATATGATGACATTT	0.378																																					p.Y95Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T285C	2						.						116.0	119.0	118.0					2																	183995219		2203	4300	6503	183703464	SO:0001819	synonymous_variant	129401	exon3			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.285T>C	2.37:g.183995219T>C			183703464	NM_138285	B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Silent	SNP	ENST00000295119.4	37	CCDS2290.1																																																																																				0.378	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285	
SGOL2	151246	broad.mit.edu	37	2	201438014	201438014	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:201438014T>A	ENST00000357799.4	+	7	3043	c.2945T>A	c.(2944-2946)gTa>gAa	p.V982E		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	982					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.V982E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCCTACAAAGTAGTTAAAAAA	0.308																																					p.V982E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2945A	2						.						42.0	41.0	42.0					2																	201438014		1818	4073	5891	201146259	SO:0001583	missense	151246	exon7			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2945T>A	2.37:g.201438014T>A	ENSP00000350447:p.Val982Glu		201146259	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	4.538	0.099915	0.08681	.	.	ENSG00000163535	ENST00000357799	T	0.12255	2.7	5.18	1.31	0.21738	.	0.436179	0.17059	N	0.188623	T	0.07052	0.0179	N	0.22421	0.69	0.09310	N	1	P;P;B	0.41265	0.744;0.744;0.218	B;B;B	0.35813	0.211;0.211;0.058	T	0.26087	-1.0113	10	0.56958	D	0.05	0.3573	3.8119	0.08801	0.3314:0.0905:0.0:0.5781	.	982;982;982	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	E	982	ENSP00000350447:V982E	ENSP00000350447:V982E	V	+	2	0	SGOL2	201146259	0.004000	0.15560	0.000000	0.03702	0.076000	0.17211	0.046000	0.14035	0.060000	0.16281	0.377000	0.23210	GTA		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
CASP8	841	broad.mit.edu	37	2	202131394	202131394	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:202131394T>C	ENST00000432109.2	+	3	374	c.185T>C	c.(184-186)cTg>cCg	p.L62P	CASP8_ENST00000264274.9_Missense_Mutation_p.L62P|CASP8_ENST00000264275.5_Missense_Mutation_p.L62P|CASP8_ENST00000323492.7_Missense_Mutation_p.L62P|CASP8_ENST00000392258.3_Missense_Mutation_p.L62P|CASP8_ENST00000392266.3_Missense_Mutation_p.L62P|CASP8_ENST00000392259.2_Missense_Mutation_p.L62P|CASP8_ENST00000358485.4_Missense_Mutation_p.L121P	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	62	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.L62P(1)|p.L121P(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGTCCTTCCTGAAGGAGCTG	0.453										HNSCC(4;0.00038)																											p.L62P	Melanoma(82;831 1348 20716 36952 40159)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T185C	2						.						72.0	73.0	72.0					2																	202131394		2203	4300	6503	201839639	SO:0001583	missense	841	exon2			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.185T>C	2.37:g.202131394T>C	ENSP00000412523:p.Leu62Pro		201839639	NM_033356	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568149	0.65651	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.58	5.58	0.84498	DEATH-like (2);Death effector (3);	0.087674	0.53938	D	0.000054	D	0.96605	0.8892	H	0.94423	3.535	0.80722	D	1	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;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.97660	1.0160	10	0.87932	D	0	.	14.9206	0.70835	0.0:0.0:0.0:1.0	.	62;62;62;62;121;62;62;62;62	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	P	62;62;62;62;62;62;62;62;62;121;62;62;62;62	ENSP00000376091:L62P;ENSP00000264274:L62P;ENSP00000376088:L62P;ENSP00000376094:L62P;ENSP00000412523:L62P;ENSP00000264275:L62P;ENSP00000396869:L62P;ENSP00000376087:L62P;ENSP00000388306:L62P;ENSP00000351273:L121P;ENSP00000397528:L62P;ENSP00000325722:L62P;ENSP00000390641:L62P	ENSP00000264274:L62P	L	+	2	0	CASP8	201839639	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	4.123000	0.57917	2.111000	0.64477	0.459000	0.35465	CTG		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
INO80D	54891	broad.mit.edu	37	2	206892935	206892935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:206892935G>A	ENST00000403263.1	-	6	1602	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	Y_RNA_ENST00000384656.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	400					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.H295Y(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTAAACGTATGCCGGCATTTC	0.502																																					p.H400Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198T	2						.						68.0	65.0	66.0					2																	206892935		1897	4122	6019	206601180	SO:0001583	missense	54891	exon6				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1198C>T	2.37:g.206892935G>A	ENSP00000384198:p.His400Tyr		206601180	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707133	0.30232	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.78246	-1.16;-1.16	5.45	5.45	0.79879	.	0.117847	0.64402	D	0.000016	T	0.60625	0.2283	N	0.12746	0.255	0.46416	D	0.999033	B	0.13145	0.007	B	0.06405	0.002	T	0.59653	-0.7414	10	0.02654	T	1	.	19.2666	0.93988	0.0:0.0:1.0:0.0	.	400	Q53TQ3-2	.	Y	400;400;295	ENSP00000384198:H400Y;ENSP00000402369:H295Y	ENSP00000233270:H400Y	H	-	1	0	INO80D	206601180	1.000000	0.71417	0.989000	0.46669	0.502000	0.33828	4.369000	0.59511	2.555000	0.86185	0.591000	0.81541	CAT		0.502	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759	
ZDBF2	57683	broad.mit.edu	37	2	207172822	207172822	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:207172822G>A	ENST00000374423.3	+	5	3956	c.3570G>A	c.(3568-3570)aaG>aaA	p.K1190K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1190							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1190K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAGAAGGTAAGCACAATCAAT	0.403																																					p.K1190K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3570A	2						.						111.0	107.0	108.0					2																	207172822		1909	4137	6046	206881067	SO:0001819	synonymous_variant	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3570G>A	2.37:g.207172822G>A			206881067	NM_020923	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
APOB	338	broad.mit.edu	37	2	21234674	21234674	+	Missense_Mutation	SNP	C	C	T	rs151009667	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:21234674C>T	ENST00000233242.1	-	26	5193	c.5066G>A	c.(5065-5067)cGc>cAc	p.R1689H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1689					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R1689H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCTGAAGCGGCCATTTGT	0.502													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20044	0.0		0.001	False		,,,				2504	0.0				p.R1689H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5066A	2						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	90.0	93.0		5066	6.0	1.0	2	dbSNP_134	93	25,8575	18.5+/-59.3	0,25,4275	yes	missense	APOB	NM_000384.2	29	0,26,6477	TT,TC,CC		0.2907,0.0227,0.1999	probably-damaging	1689/4564	21234674	26,12980	2203	4300	6503	21088179	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5066G>A	2.37:g.21234674C>T	ENSP00000233242:p.Arg1689His		21088179	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	16.49	3.138336	0.56936	2.27E-4	0.002907	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000011	T	0.05364	0.0142	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.16041	-1.0416	10	0.72032	D	0.01	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	1689	P04114	APOB_HUMAN	H	1689	ENSP00000233242:R1689H	ENSP00000233242:R1689H	R	-	2	0	APOB	21088179	0.061000	0.20836	1.000000	0.80357	0.616000	0.37450	1.005000	0.29834	2.834000	0.97654	0.650000	0.86243	CGC		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
KLF7	8609	broad.mit.edu	37	2	207988572	207988572	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:207988572C>T	ENST00000309446.6	-	2	1035	c.659G>A	c.(658-660)cGc>cAc	p.R220H	KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Missense_Mutation_p.R192H|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.R187H	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	220					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R220H(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AAACTGACAGCGGTGAACCCT	0.567																																					p.R220H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	2						.						86.0	87.0	87.0					2																	207988572		2203	4300	6503	207696817	SO:0001583	missense	8609	exon2			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.659G>A	2.37:g.207988572C>T	ENSP00000309570:p.Arg220His		207696817	NM_003709	B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676570	0.67928	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000412414	T;T;T	0.37411	1.2;1.2;1.2	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	L	0.52126	1.63	0.80722	D	1	B;B	0.34264	0.446;0.446	B;B	0.32022	0.124;0.139	T	0.08411	-1.0723	10	0.15499	T	0.54	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	192;220	B7Z4F7;O75840	.;KLF7_HUMAN	H	220;187;192	ENSP00000309570:R220H;ENSP00000387510:R187H;ENSP00000403284:R192H	ENSP00000309570:R220H	R	-	2	0	KLF7	207696817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	CGC		0.567	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709	
IKZF2	22807	broad.mit.edu	37	2	213872761	213872761	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:213872761T>C	ENST00000434687.1	-	9	1213	c.904A>G	c.(904-906)Aac>Gac	p.N302D	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.N157D|IKZF2_ENST00000342002.2_Missense_Mutation_p.N308D|IKZF2_ENST00000374319.4_Missense_Mutation_p.N276D|IKZF2_ENST00000457361.1_Missense_Mutation_p.N302D|IKZF2_ENST00000451136.2_Missense_Mutation_p.N230D|IKZF2_ENST00000421754.2_Missense_Mutation_p.N228D|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	302					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.N302D(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)		TATGTTAAGTTCATATCAAAG	0.433																																					p.N302D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A904G	2						.						65.0	62.0	63.0					2																	213872761		2203	4300	6503	213581006	SO:0001583	missense	22807	exon8			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.904A>G	2.37:g.213872761T>C	ENSP00000412869:p.Asn302Asp		213581006	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	9.958	1.222059	0.22457	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327	T;T;T;T;T;T;T	0.14266	3.28;3.25;3.28;3.3;3.24;3.31;2.52	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	M	0.63428	1.95	0.80722	D	1	B;B;P;B;B;B	0.46142	0.019;0.019;0.873;0.002;0.072;0.065	B;B;B;B;B;B	0.38428	0.022;0.033;0.273;0.008;0.022;0.04	T	0.01440	-1.1354	10	0.66056	D	0.02	-13.7207	16.1937	0.82011	0.0:0.0:0.0:1.0	.	230;228;157;276;302;80	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	D	302;308;302;276;230;228;157	ENSP00000410447:N302D;ENSP00000342876:N308D;ENSP00000412869:N302D;ENSP00000363439:N276D;ENSP00000395203:N230D;ENSP00000399574:N228D;ENSP00000363447:N157D	ENSP00000342876:N308D	N	-	1	0	IKZF2	213581006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.660000	0.54496	2.220000	0.72140	0.533000	0.62120	AAC		0.433	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
PNKD	25953	broad.mit.edu	37	2	219136267	219136267	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:219136267G>A	ENST00000273077.4	+	2	282	c.231G>A	c.(229-231)ctG>ctA	p.L77L	PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Silent_p.L77L|AAMP_ENST00000444053.1_5'Flank|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000248450.4_5'Flank	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	77					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.L77L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGGGACTGGCCTGGTGAG	0.572																																					p.L77L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	2						.						44.0	47.0	46.0					2																	219136267		2203	4300	6503	218844511	SO:0001819	synonymous_variant	25953	exon2				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.231G>A	2.37:g.219136267G>A			218844511	NM_001077399	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	ENST00000273077.4	37	CCDS2411.1																																																																																				0.572	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2		
GLB1L	79411	broad.mit.edu	37	2	220107932	220107932	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:220107932C>T	ENST00000295759.7	-	3	490	c.177G>A	c.(175-177)ccG>ccA	p.P59P	STK16_ENST00000409260.1_5'Flank|STK16_ENST00000409516.3_5'Flank|GLB1L_ENST00000356283.3_Silent_p.P59P|GLB1L_ENST00000497855.1_5'Flank|STK16_ENST00000409638.3_5'Flank|GLB1L_ENST00000409640.1_Silent_p.P59P|STK16_ENST00000409743.1_5'Flank|STK16_ENST00000396738.2_5'Flank|GLB1L_ENST00000392089.2_Silent_p.P59P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	59					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.P59P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAGCACCCGCGGTACCCGAA	0.597																																					p.P59P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G177A	2						.						62.0	71.0	68.0					2																	220107932		2203	4300	6503	219816176	SO:0001819	synonymous_variant	79411	exon3				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.177G>A	2.37:g.220107932C>T			219816176	NM_024506	Q96DR0	Silent	SNP	ENST00000295759.7	37	CCDS2437.1																																																																																				0.597	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506	
ASIC4	55515	broad.mit.edu	37	2	220396590	220396590	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:220396590G>A	ENST00000347842.3	+	2	1088	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ASIC4_ENST00000358078.4_Silent_p.Q358Q|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	358					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.Q358Q(1)									TGGACATCCAGCAGGAGGAGT	0.657																																					p.Q358Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1074A	2						.						71.0	75.0	74.0					2																	220396590		2203	4300	6503	220104834	SO:0001819	synonymous_variant	55515	exon2			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1074G>A	2.37:g.220396590G>A			220104834	NM_018674	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																				0.657	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	
CHPF	79586	broad.mit.edu	37	2	220405189	220405189	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:220405189C>T	ENST00000243776.6	-	4	1492	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H	CHPF_ENST00000535926.1_Missense_Mutation_p.R253H	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	415					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.R415H(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)		GTCAGCCCCACGCAGTGGGCA	0.677																																					p.R415H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1244A	2						.						27.0	31.0	30.0					2																	220405189		2201	4297	6498	220113433	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.1244G>A	2.37:g.220405189C>T	ENSP00000243776:p.Arg415His		220113433	NM_024536	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365271	0.41902	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16073	2.37;2.37	4.56	3.67	0.42095	.	0.070956	0.56097	D	0.000037	T	0.17534	0.0421	M	0.64997	1.995	0.43377	D	0.995475	B	0.30686	0.29	B	0.33690	0.168	T	0.03555	-1.1025	10	0.34782	T	0.22	-11.1641	6.5077	0.22204	0.3216:0.589:0.0:0.0894	.	415	Q8IZ52	CHSS2_HUMAN	H	415;253	ENSP00000243776:R415H;ENSP00000445571:R253H	ENSP00000243776:R415H	R	-	2	0	CHPF	220113433	0.020000	0.18652	0.992000	0.48379	0.863000	0.49368	0.319000	0.19522	1.263000	0.44181	0.561000	0.74099	CGT		0.677	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
PAX3	5077	broad.mit.edu	37	2	223160256	223160256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:223160256C>T	ENST00000350526.4	-	3	578	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	PAX3_ENST00000392069.2_Missense_Mutation_p.V148M|PAX3_ENST00000344493.4_Missense_Mutation_p.V148M|PAX3_ENST00000258387.5_Missense_Mutation_p.V148M|PAX3_ENST00000409551.3_Missense_Mutation_p.V147M|PAX3_ENST00000336840.6_Missense_Mutation_p.V148M|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000409828.3_Missense_Mutation_p.V148M|PAX3_ENST00000392070.2_Missense_Mutation_p.V148M	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	148	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.V148M(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGACGGCACGGTGTTTCGA	0.527			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.V148M			Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	2						.						136.0	123.0	127.0					2																	223160256		2203	4300	6503	222868500	SO:0001583	missense	5077	exon3				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.442G>A	2.37:g.223160256C>T	ENSP00000343052:p.Val148Met		222868500	NM_000438	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996396	0.93167	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99470	-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96	5.57	5.57	0.84162	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.110346	0.64402	D	0.000011	D	0.99597	0.9854	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.76494	0.996;0.998;0.99;0.999;0.989;0.996;0.999	P;D;P;D;P;P;D	0.66716	0.754;0.916;0.678;0.946;0.479;0.868;0.911	D	0.98223	1.0479	10	0.87932	D	0	.	19.1612	0.93533	0.0:1.0:0.0:0.0	.	148;148;148;147;148;148;148	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	M	148;148;148;148;148;147;148;148	ENSP00000375921:V148M;ENSP00000342092:V148M;ENSP00000343052:V148M;ENSP00000375922:V148M;ENSP00000338767:V148M;ENSP00000386750:V147M;ENSP00000386817:V148M;ENSP00000258387:V148M	ENSP00000258387:V148M	V	-	1	0	PAX3	222868500	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.818000	0.86416	2.607000	0.88179	0.655000	0.94253	GTG		0.527	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
COL4A3	1285	broad.mit.edu	37	2	228116061	228116061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:228116061G>T	ENST00000396578.3	+	11	781	c.619G>T	c.(619-621)Gga>Tga	p.G207*	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	207	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.G207*(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGCTTTCCAGGAGCCATGGG	0.378																																					p.G207X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G619T	2						.						85.0	77.0	80.0					2																	228116061		1871	4092	5963	227824305	SO:0001587	stop_gained	1285	exon11				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.619G>T	2.37:g.228116061G>T	ENSP00000379823:p.Gly207*		227824305	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Nonsense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	38	7.218649	0.98143	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	.	.	.	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.2931	0.73882	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000323334:G207X	G	+	1	0	COL4A3	227824305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.839000	0.62810	2.686000	0.91538	0.563000	0.77884	GGA		0.378	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	
SP110	3431	broad.mit.edu	37	2	231035392	231035392	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:231035392G>A	ENST00000358662.4	-	17	1979	c.1901C>T	c.(1900-1902)gCa>gTa	p.A634V	SP110_ENST00000258381.6_Missense_Mutation_p.A658V|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	634	Bromo.				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.A658V(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)		CACAAACCATGCCACCGTGTA	0.458																																					p.A658V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1973T	2						.						196.0	150.0	166.0					2																	231035392		2203	4300	6503	230743636	SO:0001583	missense	3431	exon18			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.1901C>T	2.37:g.231035392G>A	ENSP00000351488:p.Ala634Val		230743636	NM_080424	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428160	0.43122	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.43688	0.94;0.94	3.8	-1.09	0.09904	Bromodomain (3);	.	.	.	.	T	0.35364	0.0929	N	0.22421	0.69	0.09310	N	0.999999	P;P	0.50819	0.9;0.939	B;P	0.49708	0.415;0.62	T	0.35895	-0.9770	9	0.72032	D	0.01	.	10.2985	0.43637	0.0:0.0:0.2885:0.7115	.	634;658	Q9HB58;Q9HB58-6	SP110_HUMAN;.	V	658;634	ENSP00000258381:A658V;ENSP00000351488:A634V	ENSP00000258381:A658V	A	-	2	0	SP110	230743636	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.882000	0.04174	-0.009000	0.14296	0.462000	0.41574	GCA		0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	
C2orf44	80304	broad.mit.edu	37	2	24261351	24261351	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:24261351G>A	ENST00000295148.4	-	2	1071	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	C2orf44_ENST00000406895.3_Silent_p.G338G	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	338								p.G338G(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACCAGAATGCCTGGAATAG	0.408			T	ALK	NSCLC																																p.G338G			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1014T	2						.						60.0	56.0	58.0					2																	24261351		2203	4299	6502	24114855	SO:0001819	synonymous_variant	80304	exon2			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1014C>T	2.37:g.24261351G>A			24114855	NM_025203	D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	CCDS1705.1																																																																																				0.408	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203	
NMUR1	10316	broad.mit.edu	37	2	232393674	232393674	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:232393674C>T	ENST00000305141.4	-	2	191	c.58G>A	c.(58-60)Gca>Aca	p.A20T		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	20					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.A20T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGTTCCTTGCACCCCCTGGG	0.572																																					p.A20T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58A	2						.						35.0	37.0	37.0					2																	232393674		2203	4300	6503	232101918	SO:0001583	missense	10316	exon2			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.58G>A	2.37:g.232393674C>T	ENSP00000305877:p.Ala20Thr		232101918	NM_006056	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.112121	0.37242	.	.	ENSG00000171596	ENST00000305141	T	0.66460	-0.21	4.76	-1.57	0.08506	.	2.384140	0.01211	N	0.007841	T	0.53530	0.1802	L	0.51422	1.61	0.09310	N	1	B	0.19331	0.035	B	0.17433	0.018	T	0.07712	-1.0758	10	0.10377	T	0.69	0.7705	1.5196	0.02513	0.237:0.4132:0.1648:0.1849	.	20	Q9HB89	NMUR1_HUMAN	T	20	ENSP00000305877:A20T	ENSP00000305877:A20T	A	-	1	0	NMUR1	232101918	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.010000	0.13242	-0.176000	0.10707	0.549000	0.68633	GCA		0.572	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056	
MTERF4	130916	broad.mit.edu	37	2	242036799	242036799	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:242036799G>A	ENST00000391980.2	-	3	622	c.564C>T	c.(562-564)acC>acT	p.T188T	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000407095.3_Silent_p.T188T|MTERFD2_ENST00000406593.1_5'UTR|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		188					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.T188T(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GCTGGCGCATGGTGAAAATTT	0.448																																					p.T188T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C564T	2						.						101.0	92.0	95.0					2																	242036799		2203	4300	6503	241685472	SO:0001819	synonymous_variant	130916	exon3																														ENST00000391980.2:c.564C>T	2.37:g.242036799G>A			241685472	NM_182501	A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	CCDS2544.1																																																																																				0.448	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4		
CPSF3	51692	broad.mit.edu	37	2	9572805	9572805	+	Silent	SNP	C	C	T	rs548820155		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:9572805C>T	ENST00000238112.3	+	5	713	c.507C>T	c.(505-507)atC>atT	p.I169I	CPSF3_ENST00000460593.1_Silent_p.I132I	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	169					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.I169I(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGATTGAGATCGCAGGCGTGA	0.448																																					p.I169I	Colon(194;1259 2048 3845 5218 19985)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	2						.						76.0	69.0	72.0					2																	9572805		2203	4300	6503	9490256	SO:0001819	synonymous_variant	51692	exon5			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.507C>T	2.37:g.9572805C>T			9490256	NM_016207	O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	CCDS1664.1																																																																																				0.448	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	
ASXL2	55252	broad.mit.edu	37	2	26022316	26022316	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:26022316C>T	ENST00000435504.4	-	5	634	c.341G>A	c.(340-342)aGc>aAc	p.S114N	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S86N|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	114	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S114N(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTGCTGCTGTTCTCAGA	0.458																																					p.S114N												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G341A	2						.						190.0	187.0	188.0					2																	26022316		2059	4224	6283	25875820	SO:0001583	missense	55252	exon4					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.341G>A	2.37:g.26022316C>T	ENSP00000391447:p.Ser114Asn		25875820	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	C	14.27	2.486688	0.44249	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.17691	2.26;2.26	5.8	5.8	0.92144	.	0.059247	0.64402	D	0.000001	T	0.29423	0.0733	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.04811	-1.0925	10	0.87932	D	0	-16.8916	17.5488	0.87870	0.0:1.0:0.0:0.0	.	114	Q76L83	ASXL2_HUMAN	N	114;86	ENSP00000391447:S114N;ENSP00000337250:S86N	ENSP00000337250:S86N	S	-	2	0	ASXL2	25875820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.035000	0.41155	2.743000	0.94032	0.455000	0.32223	AGC		0.458	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
GPR113	165082	broad.mit.edu	37	2	26534413	26534413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:26534413delC	ENST00000311519.1	-	11	2182	c.2183delG	c.(2182-2184)ggtfs	p.G728fs	GPR113_ENST00000541401.1_Frame_Shift_Del_p.G331fs|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Frame_Shift_Del_p.G529fs|GPR113_ENST00000421160.2_Frame_Shift_Del_p.G659fs	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	728	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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.G529fs*46(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)					TTTGGACCAACCCCCCCTGCC	0.612																																					p.G659fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1976delG	2						.						72.0	79.0	77.0					2																	26534413		2203	4300	6503	26387917	SO:0001589	frameshift_variant	165082	exon10			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.2183delG	2.37:g.26534413delC	ENSP00000307831:p.Gly728fs		26387917	NM_001145169	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Frame_Shift_Del	DEL	ENST00000311519.1	37	CCDS46239.1																																																																																				0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835	
IFT172	26160	broad.mit.edu	37	2	27672912	27672912	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:27672912C>T	ENST00000260570.3	-	36	4106	c.4003G>A	c.(4003-4005)Gtt>Att	p.V1335I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1335					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.V1335I(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)					ACAGCCAGAACGACTTCCATA	0.473																																					p.V1335I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4003A	2						.						159.0	134.0	143.0					2																	27672912		2203	4300	6503	27526416	SO:0001583	missense	26160	exon36			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.4003G>A	2.37:g.27672912C>T	ENSP00000260570:p.Val1335Ile		27526416	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	5.301	0.240847	0.10077	.	.	ENSG00000138002	ENST00000260570	T	0.51071	0.72	5.63	3.85	0.44370	.	0.504438	0.21944	N	0.066827	T	0.30792	0.0776	N	0.25890	0.77	0.58432	D	0.999998	B	0.17268	0.021	B	0.16722	0.016	T	0.05402	-1.0887	10	0.13470	T	0.59	-10.0587	9.2635	0.37627	0.0:0.7647:0.0:0.2353	.	1335	Q9UG01	IF172_HUMAN	I	1335	ENSP00000260570:V1335I	ENSP00000260570:V1335I	V	-	1	0	IFT172	27526416	0.039000	0.19947	0.980000	0.43619	0.417000	0.31264	0.347000	0.20014	0.751000	0.32900	0.491000	0.48974	GTT		0.473	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
IFT172	26160	broad.mit.edu	37	2	27684142	27684142	+	Silent	SNP	G	G	A	rs143142494		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:27684142G>A	ENST00000260570.3	-	22	2539	c.2436C>T	c.(2434-2436)taC>taT	p.Y812Y		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	812					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.Y812Y(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)					ATACCCTTTCGTAGAGTTCCC	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22369	0.0		0.0	False		,,,				2504	0.0				p.Y812Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2436T	2						.	G		0,4406		0,0,2203	111.0	100.0	104.0		2436	-1.7	0.9	2	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IFT172	NM_015662.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		812/1750	27684142	2,13004	2203	4300	6503	27537646	SO:0001819	synonymous_variant	26160	exon22			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.2436C>T	2.37:g.27684142G>A			27537646	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																				0.562	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
ALK	238	broad.mit.edu	37	2	29451871	29451871	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:29451871C>A	ENST00000389048.3	-	16	3600	c.2694G>T	c.(2692-2694)gaG>gaT	p.E898D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	898	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E898D(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGGTGGCACCCTCCTGCAAAG	0.617			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.E898D		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2694T	2						.						41.0	40.0	40.0					2																	29451871		2203	4300	6503	29305375	SO:0001583	missense	238	exon16	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2694G>T	2.37:g.29451871C>A	ENSP00000373700:p.Glu898Asp		29305375	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900532	0.72754	.	.	ENSG00000171094	ENST00000389048	T	0.43294	0.95	5.36	3.16	0.36331	.	0.000000	0.48767	D	0.000171	T	0.49184	0.1542	L	0.60455	1.87	0.80722	D	1	P	0.46064	0.872	P	0.58620	0.842	T	0.45220	-0.9276	9	.	.	.	.	4.4658	0.11689	0.0:0.4749:0.0:0.5251	.	898	Q9UM73	ALK_HUMAN	D	898	ENSP00000373700:E898D	.	E	-	3	2	ALK	29305375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.128000	0.31369	1.149000	0.42402	0.561000	0.74099	GAG		0.617	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
AL133247.2	0	broad.mit.edu	37	2	31758811	31758811	+	RNA	SNP	G	G	A	rs267599353	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:31758811G>A	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							GGCCTCCCTCGATTGAGCAGT	0.453																																					p.I102I												.	.	0			c.C306T	2						.						56.0	51.0	53.0					2																	31758811		1931	4156	6087	31612315			6716	exon2																															2.37:g.31758811G>A			31612315	NM_000348		Nonsense_Mutation	SNP	ENST00000435713.1	37																																																																																					0.453	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1		
NLRC4	58484	broad.mit.edu	37	2	32476084	32476084	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:32476084G>A	ENST00000404025.2	-	5	1337	c.849C>T	c.(847-849)tgC>tgT	p.C283C	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.C283C|NLRC4_ENST00000402280.1_Silent_p.C283C			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	283	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				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.C283C(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)					TGTGCCTCAGGCACTCAGTGG	0.532																																					p.C283C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	2						.						127.0	105.0	113.0					2																	32476084		2203	4300	6503	32329588	SO:0001819	synonymous_variant	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.849C>T	2.37:g.32476084G>A			32329588	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																				0.532	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	32477624	32477624	+	Silent	SNP	G	G	A	rs199789168	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:32477624G>A	ENST00000404025.2	-	4	614	c.126C>T	c.(124-126)tgC>tgT	p.C42C	NLRC4_ENST00000342905.6_Silent_p.C42C|NLRC4_ENST00000360906.5_Silent_p.C42C|NLRC4_ENST00000402280.1_Silent_p.C42C			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	42	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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.C42C(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)					CCTTCTCGCAGCAAATGATGT	0.403													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18645	0.0		0.0	False		,,,				2504	0.0				p.C42C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C126T	2						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	177.0	162.0	167.0		126,126,126	2.3	0.0	2	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRC4	NM_001199138.1,NM_001199139.1,NM_021209.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	42/1025,42/1025,42/1025	32477624	1,13005	2203	4300	6503	32331128	SO:0001819	synonymous_variant	58484	exon3			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.126C>T	2.37:g.32477624G>A			32331128	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																				0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
HEATR5B	54497	broad.mit.edu	37	2	37295978	37295978	+	Silent	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:37295978A>T	ENST00000233099.5	-	8	1118	c.1023T>A	c.(1021-1023)ccT>ccA	p.P341P	HEATR5B_ENST00000354531.2_Silent_p.P341P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	341						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.P341P(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGTTGCCCGAGGATGGGAAA	0.493																																					p.P341P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1023A	2						.						87.0	75.0	79.0					2																	37295978		2203	4300	6503	37149482	SO:0001819	synonymous_variant	54497	exon8			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1023T>A	2.37:g.37295978A>T			37149482	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																				0.493	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
PRKD3	23683	broad.mit.edu	37	2	37481351	37481351	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:37481351A>G	ENST00000379066.1	-	18	3257	c.2495T>C	c.(2494-2496)cTa>cCa	p.L832P	PRKD3_ENST00000234179.2_Missense_Mutation_p.L832P			O94806	KPCD3_HUMAN	protein kinase D3	832	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.L832P(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTTTACCTGTAGCCAGGGATG	0.373																																					p.L832P	Melanoma(80;621 1355 8613 11814 51767)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2495C	2						.						116.0	113.0	114.0					2																	37481351		2203	4300	6503	37334855	SO:0001583	missense	23683	exon17			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2495T>C	2.37:g.37481351A>G	ENSP00000368356:p.Leu832Pro		37334855	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.767456	0.90020	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.69561	-0.41;-0.41	5.68	5.68	0.88126	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	0.56097	D	0.000024	D	0.84633	0.5515	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87738	0.2583	10	0.87932	D	0	-9.8198	15.921	0.79575	1.0:0.0:0.0:0.0	.	832	O94806	KPCD3_HUMAN	P	832	ENSP00000368356:L832P;ENSP00000234179:L832P	ENSP00000234179:L832P	L	-	2	0	PRKD3	37334855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.157000	0.67596	0.533000	0.62120	CTA		0.373	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
SLC8A1	6546	broad.mit.edu	37	2	40342487	40342487	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:40342487G>A	ENST00000403092.1	-	11	2861	c.2828C>T	c.(2827-2829)gCc>gTc	p.A943V	SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A907V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A907V|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A935V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A943V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A907V|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A938V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A938V|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A907V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A907V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	943					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A943V(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAGGAGCTTGGCAGTCCGGGG	0.532																																					p.A938V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2813T	2						.						63.0	67.0	66.0					2																	40342487		2203	4300	6503	40195991	SO:0001583	missense	6546	exon9				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2828C>T	2.37:g.40342487G>A	ENSP00000384763:p.Ala943Val		40195991	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768812	0.31320	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.94	5.94	0.96194	Sodium/calcium exchanger membrane region (1);	0.109176	0.64402	D	0.000013	T	0.48696	0.1514	L	0.39898	1.24	0.49051	D	0.999749	B;B;B;B	0.31383	0.206;0.321;0.053;0.121	B;B;B;B	0.27380	0.04;0.075;0.062;0.079	T	0.39057	-0.9632	10	0.17832	T	0.49	.	17.8596	0.88777	0.0:0.0:1.0:0.0	.	907;930;938;943	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	V	907;943;938;943;938;907;907;943;935;930;907;907	ENSP00000383886:A907V;ENSP00000440727:A938V;ENSP00000384763:A943V;ENSP00000385678:A938V;ENSP00000385188:A907V;ENSP00000385535:A907V;ENSP00000332931:A943V;ENSP00000384908:A935V;ENSP00000385811:A907V;ENSP00000443515:A907V	ENSP00000332931:A943V	A	-	2	0	SLC8A1	40195991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.930000	0.87610	2.820000	0.97059	0.650000	0.86243	GCC		0.532	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
SLC3A1	6519	broad.mit.edu	37	2	44508562	44508562	+	Missense_Mutation	SNP	C	C	T	rs369641941		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:44508562C>T	ENST00000260649.6	+	3	723	c.647C>T	c.(646-648)aCg>aTg	p.T216M	SLC3A1_ENST00000409741.1_Missense_Mutation_p.T216M|SLC3A1_ENST00000409387.1_Missense_Mutation_p.T216M|SLC3A1_ENST00000409229.3_Missense_Mutation_p.T216M|SLC3A1_ENST00000410056.3_Missense_Mutation_p.T216M	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	216			T -> M (in CSNU). {ECO:0000269|PubMed:12234283}.		amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.T216M(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CCAAACCACACGAGTGATAAA	0.343																																					p.T216M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647T	2	GRCh37	CM961305	SLC3A1	M		.	C	MET/THR	0,4406		0,0,2203	86.0	84.0	85.0		647	4.2	1.0	2		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC3A1	NM_000341.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	216/686	44508562	1,13005	2203	4300	6503	44362066	SO:0001583	missense	6519	exon3				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.647C>T	2.37:g.44508562C>T	ENSP00000260649:p.Thr216Met		44362066	NM_000341	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162870	0.78226	0.0	1.16E-4	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99574	-6.2;-6.2;-5.18;-6.2;-6.2	4.19	4.19	0.49359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.175931	0.49305	D	0.000157	D	0.99809	0.9917	H	0.98351	4.21	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	0.77004	0.982;0.985;0.989;0.982;0.985	D	0.96522	0.9386	10	0.87932	D	0	-12.675	17.147	0.86768	0.0:1.0:0.0:0.0	.	216;216;216;216;216	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	M	216;216;152;216;216;216;216	ENSP00000260649:T216M;ENSP00000387308:T216M;ENSP00000387337:T216M;ENSP00000386954:T216M;ENSP00000386620:T216M	ENSP00000260649:T216M	T	+	2	0	SLC3A1	44362066	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.138000	0.77305	2.323000	0.78572	0.551000	0.68910	ACG		0.343	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	
EPAS1	2034	broad.mit.edu	37	2	46607544	46607544	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:46607544C>T	ENST00000263734.3	+	12	2243	c.1733C>T	c.(1732-1734)gCc>gTc	p.A578V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	578					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.A578V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCCTGTAGCCCCGCACAGT	0.607																																					p.A578V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1733T	2						.						66.0	76.0	73.0					2																	46607544		2203	4300	6503	46461048	SO:0001583	missense	2034	exon12			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1733C>T	2.37:g.46607544C>T	ENSP00000263734:p.Ala578Val		46461048	NM_001430	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545352	0.45280	.	.	ENSG00000116016	ENST00000263734	T	0.48836	0.8	5.02	4.13	0.48395	.	0.381500	0.26867	N	0.022093	T	0.32102	0.0818	N	0.14661	0.345	0.22745	N	0.998781	B	0.18741	0.03	B	0.12837	0.008	T	0.18116	-1.0347	10	0.39692	T	0.17	.	14.7676	0.69651	0.1457:0.8543:0.0:0.0	.	578	Q99814	EPAS1_HUMAN	V	578	ENSP00000263734:A578V	ENSP00000263734:A578V	A	+	2	0	EPAS1	46461048	0.031000	0.19500	0.039000	0.18376	0.921000	0.55340	2.871000	0.48459	1.107000	0.41642	0.460000	0.39030	GCC		0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
MSH6	2956	broad.mit.edu	37	2	48033780	48033780	+	Nonsense_Mutation	SNP	C	C	T	rs267608094		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:48033780C>T	ENST00000234420.5	+	9	4143	c.3991C>T	c.(3991-3993)Cga>Tga	p.R1331*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.R1201*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Nonsense_Mutation_p.R1029*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1331					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.R1331*(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGTCACTACGATTATTTCG	0.353			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.R1331X		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.C3991T	2	GRCh37	CM061859	MSH6	M		.						43.0	44.0	43.0					2																	48033780		2203	4299	6502	47887284	SO:0001587	stop_gained	2956	exon9	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3991C>T	2.37:g.48033780C>T	ENSP00000234420:p.Arg1331*		47887284	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	45	11.680051	0.99590	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	6.03	4.04	0.47022	.	0.054432	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7826	14.033	0.64627	0.4149:0.5851:0.0:0.0	.	.	.	.	X	1331;295;1201;1029	.	ENSP00000234420:R1331X	R	+	1	2	MSH6	47887284	0.801000	0.28930	0.978000	0.43139	0.979000	0.70002	0.476000	0.22180	1.526000	0.49068	0.655000	0.94253	CGA		0.353	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
FSHR	2492	broad.mit.edu	37	2	49195880	49195880	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:49195880A>G	ENST00000406846.2	-	9	930	c.811T>C	c.(811-813)Tat>Cat	p.Y271H	FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Missense_Mutation_p.Y245H|FSHR_ENST00000469138.1_5'Flank|FSHR_ENST00000541117.1_Missense_Mutation_p.Y7H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	271					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.Y271H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGGCTGGGATAGGTGAGGCTG	0.488									Gonadal Dysgenesis, 46 XX																												p.Y245H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T733C	2						.						80.0	78.0	79.0					2																	49195880		2203	4300	6503	49049384	SO:0001583	missense	2492	exon8	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.811T>C	2.37:g.49195880A>G	ENSP00000384708:p.Tyr271His		49049384	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.981547	0.93044	.	.	ENSG00000170820	ENST00000406846;ENST00000304421;ENST00000541117	T;T;D	0.82255	-0.68;-0.64;-1.59	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.91855	0.7422	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.92810	0.6263	9	.	.	.	.	14.8487	0.70281	1.0:0.0:0.0:0.0	.	245;271	Q05AH0;P23945	.;FSHR_HUMAN	H	271;245;7	ENSP00000384708:Y271H;ENSP00000306780:Y245H;ENSP00000444172:Y7H	.	Y	-	1	0	FSHR	49049384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.288000	0.76882	0.533000	0.62120	TAT		0.488	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
PNPT1	87178	broad.mit.edu	37	2	55906840	55906840	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:55906840G>C	ENST00000447944.2	-	8	742	c.656C>G	c.(655-657)gCt>gGt	p.A219G		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	219					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.A219G(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGTGCTCCAGCAACCACTAA	0.328																																					p.A219G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656G	2						.						101.0	101.0	101.0					2																	55906840		2201	4299	6500	55760344	SO:0001583	missense	87178	exon8			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.656C>G	2.37:g.55906840G>C	ENSP00000400646:p.Ala219Gly		55760344	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107771	0.77096	.	.	ENSG00000138035	ENST00000447944	T	0.64260	-0.09	5.0	5.0	0.66597	Exoribonuclease, phosphorolytic domain 2 (2);	0.056829	0.64402	D	0.000001	T	0.72566	0.3476	M	0.73753	2.245	0.80722	D	1	B	0.27166	0.17	B	0.41088	0.347	T	0.74526	-0.3636	10	0.72032	D	0.01	-10.3741	18.3432	0.90313	0.0:0.0:1.0:0.0	.	219	Q8TCS8	PNPT1_HUMAN	G	219	ENSP00000400646:A219G	ENSP00000386075:A219G	A	-	2	0	PNPT1	55760344	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.145000	0.94634	2.517000	0.84864	0.549000	0.68633	GCT		0.328	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
XPO1	7514	broad.mit.edu	37	2	61715886	61715886	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:61715886A>G	ENST00000401558.2	-	18	2770	c.2043T>C	c.(2041-2043)gaT>gaC	p.D681D	XPO1_ENST00000406957.1_Silent_p.D681D|XPO1_ENST00000404992.2_Silent_p.D681D	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	681					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.D681D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTGTTTCAGGATCTTTCAGTA	0.403			Mis		CLL																																p.D681D		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2043C	2						.						63.0	68.0	67.0					2																	61715886		2203	4299	6502	61569390	SO:0001819	synonymous_variant	7514	exon18			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2043T>C	2.37:g.61715886A>G			61569390	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	ENST00000401558.2	37	CCDS33205.1																																																																																				0.403	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400	
FAM161A	84140	broad.mit.edu	37	2	62069257	62069257	+	Splice_Site	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:62069257C>A	ENST00000405894.3	-	2	523	c.422G>T	c.(421-423)aGa>aTa	p.R141I	FAM161A_ENST00000404929.1_Splice_Site_p.R141I	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	141					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.R141I(1)|p.R32I(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACAAGCTTACCTGGAAGAGTC	0.328																																					p.R141I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G422T	2						.						97.0	89.0	92.0					2																	62069257		1823	4081	5904	61922761	SO:0001630	splice_region_variant	84140	exon2				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.422+1G>T	2.37:g.62069257C>A			61922761	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842696	0.71488	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.62105	0.05;0.05	5.77	4.87	0.63330	.	0.679831	0.14263	N	0.330685	T	0.61578	0.2358	L	0.39898	1.24	0.43947	D	0.996613	P;P	0.50943	0.807;0.94	B;P	0.49502	0.243;0.613	T	0.56294	-0.8003	9	.	.	.	-4.5311	12.9227	0.58241	0.1797:0.8203:0.0:0.0	.	141;141	Q3B820;Q3B820-3	F161A_HUMAN;.	I	141	ENSP00000385158:R141I;ENSP00000385893:R141I	.	R	-	2	0	FAM161A	61922761	0.899000	0.30636	0.045000	0.18777	0.107000	0.19398	1.433000	0.34947	1.360000	0.45960	0.655000	0.94253	AGA		0.328	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	Missense_Mutation
VPS54	51542	broad.mit.edu	37	2	64211056	64211056	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:64211056C>T	ENST00000272322.4	-	2	232	c.78G>A	c.(76-78)ccG>ccA	p.P26P	VPS54_ENST00000409558.4_Silent_p.P26P			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	26					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.P26P(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGTGTTTTGACGGATCTACCT	0.418																																					p.P26P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G78A	2						.						148.0	147.0	148.0					2																	64211056		2203	4300	6503	64064560	SO:0001819	synonymous_variant	51542	exon2			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.78G>A	2.37:g.64211056C>T			64064560	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	CCDS33208.1																																																																																				0.418	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	
SERTAD2	9792	broad.mit.edu	37	2	64863394	64863394	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:64863394G>A	ENST00000313349.3	-	2	909	c.612C>T	c.(610-612)ggC>ggT	p.G204G	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	204					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G204G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTTCTGGGTGCCAGCCTCGC	0.577																																					p.G204G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612T	2						.						57.0	60.0	59.0					2																	64863394		2203	4300	6503	64716898	SO:0001819	synonymous_variant	9792	exon2			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.612C>T	2.37:g.64863394G>A			64716898	NM_014755	Q53TS2	Silent	SNP	ENST00000313349.3	37	CCDS33210.1																																																																																				0.577	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755	
PROKR1	10887	broad.mit.edu	37	2	68882446	68882446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:68882446G>A	ENST00000303786.3	+	3	1340	c.920G>A	c.(919-921)cGc>cAc	p.R307H	PROKR1_ENST00000394342.2_Missense_Mutation_p.R307H			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	307					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R307H(2)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACCATCGTGCGCGACTTCTTC	0.577																																					p.R307H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G920A	2						.						155.0	114.0	128.0					2																	68882446		2203	4300	6503	68735950	SO:0001583	missense	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.920G>A	2.37:g.68882446G>A	ENSP00000303775:p.Arg307His		68735950	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040426	0.93630	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72505	-0.66;-0.66	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76462	-0.2950	10	0.15066	T	0.55	.	15.9178	0.79535	0.0:0.0:1.0:0.0	.	307	Q8TCW9	PKR1_HUMAN	H	307	ENSP00000303775:R307H;ENSP00000377874:R307H	ENSP00000303775:R307H	R	+	2	0	PROKR1	68735950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.884000	0.98904	0.655000	0.94253	CGC		0.577	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
GMCL1	64395	broad.mit.edu	37	2	70070298	70070298	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:70070298G>A	ENST00000282570.3	+	5	848	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.Q199Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TAATACAGCAGTGTGGTGAGA	0.363																																					p.Q199Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G597A	2						.						132.0	130.0	131.0					2																	70070298		2203	4300	6503	69923802	SO:0001819	synonymous_variant	64395	exon5			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.597G>A	2.37:g.70070298G>A			69923802	NM_178439	Q9H826|Q9H8V7|Q9H927	Silent	SNP	ENST00000282570.3	37	CCDS1895.1																																																																																				0.363	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	
ADD2	119	broad.mit.edu	37	2	70910895	70910895	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:70910895G>A	ENST00000264436.4	-	10	1397	c.953C>T	c.(952-954)tCg>tTg	p.S318L	ADD2_ENST00000413157.2_Missense_Mutation_p.S318L|ADD2_ENST00000430656.1_Missense_Mutation_p.S334L|ADD2_ENST00000355733.3_Missense_Mutation_p.S318L|ADD2_ENST00000407644.2_Missense_Mutation_p.S318L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	318					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.S318L(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGACAGAGCCGACACCTGTAG	0.607																																					p.S318L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C953T	2						.						28.0	29.0	29.0					2																	70910895		2203	4300	6503	70764403	SO:0001583	missense	119	exon10			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.953C>T	2.37:g.70910895G>A	ENSP00000264436:p.Ser318Leu		70764403	NM_001185054	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904787	0.72868	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	4.87	4.87	0.63330	Class II aldolase/adducin, N-terminal (2);	0.068342	0.64402	D	0.000010	T	0.27384	0.0672	L	0.47716	1.5	0.48087	D	0.999589	P;B;P;D	0.67145	0.899;0.452;0.491;0.996	B;B;B;P	0.53689	0.282;0.067;0.034;0.732	T	0.00697	-1.1605	10	0.51188	T	0.08	-11.0631	15.5561	0.76196	0.0:0.0:1.0:0.0	.	334;318;318;318	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	L	318;318;318;318;318;334	ENSP00000264436:S318L;ENSP00000384677:S318L;ENSP00000347972:S318L;ENSP00000388072:S318L;ENSP00000398112:S334L	ENSP00000264436:S318L	S	-	2	0	ADD2	70764403	0.997000	0.39634	0.943000	0.38184	0.937000	0.57800	3.149000	0.50655	2.541000	0.85698	0.655000	0.94253	TCG		0.607	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
ZNF638	27332	broad.mit.edu	37	2	71576843	71576843	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:71576843C>A	ENST00000409544.1	+	2	1389	c.759C>A	c.(757-759)ccC>ccA	p.P253P	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.P253P|ZNF638_ENST00000355812.3_Silent_p.P253P|ZNF638_ENST00000377802.2_Silent_p.P253P	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	253					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P253P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CATCTGTTCCCAATCCAAATG	0.408																																					p.P253P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C759A	2						.						129.0	129.0	129.0					2																	71576843		2203	4300	6503	71430351	SO:0001819	synonymous_variant	27332	exon2			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.759C>A	2.37:g.71576843C>A			71430351	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	CCDS1917.1																																																																																				0.408	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
ALMS1	7840	broad.mit.edu	37	2	73613068	73613068	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:73613068G>A	ENST00000264448.6	+	1	183	c.72G>A	c.(70-72)gaG>gaA	p.E24E	ALMS1_ENST00000409009.1_Silent_p.E24E|ALMS1_ENST00000377715.1_Silent_p.E24E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	24	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E24E(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						aggaggaggaggaagaggagg	0.682																																					p.E24E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72A	2						.						6.0	9.0	8.0					2																	73613068		1870	3864	5734	73466576	SO:0001819	synonymous_variant	7840	exon1			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.72G>A	2.37:g.73613068G>A			73466576	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.682	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73678838	73678838	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:73678838C>T	ENST00000264448.6	+	8	5292	c.5181C>T	c.(5179-5181)gaC>gaT	p.D1727D	ALMS1_ENST00000377715.1_Silent_p.D1727D|ALMS1_ENST00000409009.1_Silent_p.D1685D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1727	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D1727D(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCTGCCAGACAGTGAGCTAA	0.453																																					p.D1727D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5181T	2						.						104.0	105.0	105.0					2																	73678838		1870	4099	5969	73532346	SO:0001819	synonymous_variant	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5181C>T	2.37:g.73678838C>T			73532346	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
WDR54	84058	broad.mit.edu	37	2	74653595	74653595	+	IGR	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:74653595C>T	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Silent_p.Q476Q|RTKN_ENST00000233330.6_Silent_p.Q439Q|RTKN_ENST00000272430.5_Silent_p.Q489Q	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54									p.Q489Q(1)|p.Q476Q(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GCAGGGCAGGCTGGTCTGTAA	0.667																																					p.Q439Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1317A	2						.						22.0	26.0	25.0					2																	74653595		2184	4279	6463	74507103	SO:0001628	intergenic_variant	6242	exon12			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653595C>T			74507103	NM_001015056	D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	CCDS1940.1																																																																																				0.667	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118	
EIF2AK3	9451	broad.mit.edu	37	2	88874766	88874766	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:88874766T>C	ENST00000303236.3	-	13	2536	c.2235A>G	c.(2233-2235)ggA>ggG	p.G745G	EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Silent_p.G594G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	745	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.G745G(1)		ovary(3)	3						CATGGTCCATTCCTGAGAATT	0.483																																					p.G745G	GBM(138;671 1851 16235 39058 45249)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2235G	2						.						326.0	318.0	321.0					2																	88874766		2203	4300	6503	88655881	SO:0001819	synonymous_variant	9451	exon13			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.2235A>G	2.37:g.88874766T>C			88655881	NM_004836	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	CCDS33241.1																																																																																				0.483	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	
PROM2	150696	broad.mit.edu	37	2	95952587	95952587	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:95952587C>A	ENST00000317620.9	+	18	2209	c.2076C>A	c.(2074-2076)tcC>tcA	p.S692S	PROM2_ENST00000317668.4_Silent_p.S692S|PROM2_ENST00000542147.1_Silent_p.S643S|PROM2_ENST00000403131.2_Silent_p.S692S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	692					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.S692S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTGGAGTCCTCTGCCCCGA	0.627																																					p.S692S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2076A	2						.						62.0	52.0	55.0					2																	95952587		2203	4300	6503	95316314	SO:0001819	synonymous_variant	150696	exon18			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2076C>A	2.37:g.95952587C>A			95316314	NM_144707	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	CCDS2012.1																																																																																				0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353																																					p.K379fs												.	.	3	Deletion - Frameshift(2)|Unknown(1)	large_intestine(2)|skin(1)	c.1135delA	2						.			3,107,4156		0,0,3,40,27,2063	69.0	75.0	73.0			4.7	1.0	2		75	6,163,8085		0,0,6,55,53,4013	no	codingComplex	RBM45	NM_152945.2		0,0,9,95,80,6076	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0475,2.5785,2.2284			178988920	9,270,12241	2203	4300	6503	178697166	SO:0001589	frameshift_variant	129831	exon8			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1135delA	2.37:g.178988920delA	ENSP00000286070:p.Lys381fs		178697166	NM_152945	Q6NYL0|Q8NFC9	Frame_Shift_Del	DEL	ENST00000286070.5	37	CCDS33335.1																																																																																				0.353	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
STK17B	9262	broad.mit.edu	37	2	197021301	197021301	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:197021301delT	ENST00000263955.4	-	3	483	c.197delA	c.(196-198)aagfs	p.K66fs	RP11-347P5.1_ENST00000606818.1_RNA|STK17B_ENST00000409228.1_Frame_Shift_Del_p.K66fs	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K66fs*43(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCTTCTTCTCTTTTTTAGAAA	0.383																																					p.K66fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.197delA	2						.						96.0	94.0	94.0					2																	197021301		2203	4300	6503	196729546	SO:0001589	frameshift_variant	9262	exon3			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.197delA	2.37:g.197021301delT	ENSP00000263955:p.Lys66fs		196729546	NM_004226		Frame_Shift_Del	DEL	ENST00000263955.4	37	CCDS2315.1																																																																																				0.383	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2		
CASP8	841	broad.mit.edu	37	2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:202151290delA	ENST00000432109.2	+	10	1602	c.1413delA	c.(1411-1413)agafs	p.R471fs	CASP8_ENST00000264274.9_Frame_Shift_Del_p.R387fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.R488fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.R456fs|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Frame_Shift_Del_p.R530fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	471					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.K532fs*>7(1)|p.K490fs*>7(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCACACTAAGAAAAAAACTTG	0.398										HNSCC(4;0.00038)																											p.R456fs	Melanoma(82;831 1348 20716 36952 40159)											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1368delA	2						.						195.0	172.0	180.0					2																	202151290		2203	4300	6503	201859535	SO:0001589	frameshift_variant	841	exon8			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1413delA	2.37:g.202151290delA	ENSP00000412523:p.Arg471fs		201859535	NM_033356	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	ENST00000432109.2	37	CCDS2342.1																																																																																				0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
NRP2	8828	broad.mit.edu	37	2	206628465	206628465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:206628465delC	ENST00000357785.5	+	13	2143	c.2112delC	c.(2110-2112)agcfs	p.S704fs	NRP2_ENST00000360409.3_Frame_Shift_Del_p.S704fs|NRP2_ENST00000272849.3_Frame_Shift_Del_p.S704fs|NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000357118.4_Frame_Shift_Del_p.S704fs|AC007362.3_ENST00000596616.1_RNA|AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000412873.2_Frame_Shift_Del_p.S704fs|NRP2_ENST00000540178.1_Frame_Shift_Del_p.S704fs|NRP2_ENST00000540841.1_Frame_Shift_Del_p.S704fs			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P706fs*70(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGCTCATCAGCCCCCCTGTCC	0.642											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S704fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2112delC	2						.						62.0	70.0	67.0					2																	206628465		2203	4300	6503	206336710	SO:0001589	frameshift_variant	8828	exon13			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2112delC	2.37:g.206628465delC	ENSP00000350432:p.Ser704fs	2161	206336710	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Frame_Shift_Del	DEL	ENST00000357785.5	37	CCDS46496.1																																																																																				0.642	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
STK25	10494	broad.mit.edu	37	2	242438686	242438686	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr2:242438686C>T	ENST00000316586.4	-	6	920	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	STK25_ENST00000478403.1_5'Flank|STK25_ENST00000535007.1_Missense_Mutation_p.A97T|STK25_ENST00000403346.3_Missense_Mutation_p.A191T|STK25_ENST00000405883.3_Missense_Mutation_p.A114T|STK25_ENST00000401869.1_Missense_Mutation_p.A191T|STK25_ENST00000543554.1_Missense_Mutation_p.A97T|STK25_ENST00000405585.1_Missense_Mutation_p.A114T	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A191T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AAGTCGTAGGCCGACTGCTTG	0.617																																					p.A191T	NSCLC(99;1100 1566 7679 28647 48345)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	2						.						105.0	103.0	104.0					2																	242438686		2203	4300	6503	242087359	SO:0001583	missense	10494	exon6			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.571G>A	2.37:g.242438686C>T	ENSP00000325748:p.Ala191Thr		242087359	NM_006374	A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824843	0.71143	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760	T;T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.04	5.04	0.67666	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	0.59729	0.2215	L	0.33710	1.025	0.80722	D	1	P;P;P;P	0.46512	0.764;0.879;0.724;0.879	P;B;B;B	0.45406	0.479;0.316;0.287;0.316	T	0.65994	-0.6033	10	0.87932	D	0	.	18.7622	0.91856	0.0:1.0:0.0:0.0	.	117;114;191;97	B4DVS7;A8K6Z3;O00506;B4E185	.;.;STK25_HUMAN;.	T	191;191;191;114;97;114;97;97;97;95;97;97	ENSP00000325748:A191T;ENSP00000384162:A191T;ENSP00000385687:A191T;ENSP00000384444:A114T;ENSP00000385541:A114T;ENSP00000444886:A97T;ENSP00000446008:A97T;ENSP00000399212:A97T;ENSP00000417020:A95T;ENSP00000403607:A97T;ENSP00000395104:A97T	ENSP00000325748:A191T	A	-	1	0	STK25	242087359	1.000000	0.71417	0.716000	0.30569	0.546000	0.35178	7.576000	0.82467	2.508000	0.84585	0.561000	0.74099	GCC		0.617	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374	
DCBLD2	131566	broad.mit.edu	37	3	98520476	98520476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:98520476C>T	ENST00000326840.6	-	14	2050	c.1688G>A	c.(1687-1689)gGc>gAc	p.G563D	DCBLD2_ENST00000326857.9_Missense_Mutation_p.G563D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	563					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.G563D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTCATAGGTGCCTTCAGTTTT	0.483																																					p.G563D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1688A	3						.						55.0	57.0	57.0					3																	98520476		1857	4096	5953	100003166	SO:0001583	missense	131566	exon14				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1688G>A	3.37:g.98520476C>T	ENSP00000321573:p.Gly563Asp		100003166	NM_080927	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220721	0.79464	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.91351	-2.77;-2.83	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.93733	0.7997	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.982;0.984	D	0.91748	0.5410	10	0.27082	T	0.32	-18.2702	17.0471	0.86507	0.0:1.0:0.0:0.0	.	563;563	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	D	563	ENSP00000321573:G563D;ENSP00000321646:G563D	ENSP00000321573:G563D	G	-	2	0	DCBLD2	100003166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.814000	0.55643	2.697000	0.92050	0.655000	0.94253	GGC		0.483	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927	
IRAK2	3656	broad.mit.edu	37	3	10206688	10206688	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:10206688G>A	ENST00000256458.4	+	1	140	c.50G>A	c.(49-51)tGc>tAc	p.C17Y		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	17	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.C17Y(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACGACCTGTGCCGCAACATG	0.711																																					p.C17Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G50A	3						.						39.0	37.0	37.0					3																	10206688		2203	4300	6503	10181688	SO:0001583	missense	3656	exon1			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.50G>A	3.37:g.10206688G>A	ENSP00000256458:p.Cys17Tyr		10181688	NM_001570	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635074	0.29068	.	.	ENSG00000134070	ENST00000256458	T	0.60797	0.16	5.32	5.32	0.75619	Death (1);DEATH-like (2);	0.000000	0.56097	D	0.000027	T	0.69169	0.3081	L	0.50333	1.59	0.52099	D	0.999942	D	0.89917	1.0	D	0.97110	1.0	T	0.64888	-0.6301	10	0.27785	T	0.31	-23.6085	14.4865	0.67622	0.0:0.0:1.0:0.0	.	17	O43187	IRAK2_HUMAN	Y	17	ENSP00000256458:C17Y	ENSP00000256458:C17Y	C	+	2	0	IRAK2	10181688	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.653000	0.61462	2.483000	0.83821	0.555000	0.69702	TGC		0.711	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1		
FILIP1L	11259	broad.mit.edu	37	3	99648720	99648720	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:99648720A>G	ENST00000354552.3	-	3	876	c.406T>C	c.(406-408)Tat>Cat	p.Y136H	FILIP1L_ENST00000331335.5_Missense_Mutation_p.Y136H|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000398326.2_Missense_Mutation_p.Y136H|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	136						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Y136H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GGTTTCTCATAGATGTCCTCC	0.488																																					p.Y136H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T406C	3						.						91.0	92.0	92.0					3																	99648720		2011	4193	6204	101131410	SO:0001583	missense	11259	exon3				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.406T>C	3.37:g.99648720A>G	ENSP00000346560:p.Tyr136His		101131410	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624199	0.87560	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	T;T;T	0.55588	0.51;0.51;0.51	5.46	5.46	0.80206	Cortactin-binding protein-2, N-terminal (1);	0.357072	0.20073	N	0.099827	T	0.69242	0.3089	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.64428	-0.6410	10	0.19147	T	0.46	-9.6133	15.8559	0.78977	1.0:0.0:0.0:0.0	.	136;136	Q4L180-2;Q4L180	.;FIL1L_HUMAN	H	136	ENSP00000346560:Y136H;ENSP00000327880:Y136H;ENSP00000381371:Y136H	ENSP00000327880:Y136H	Y	-	1	0	FILIP1L	101131410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.218000	0.71995	0.533000	0.62120	TAT		0.488	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
IMPG2	50939	broad.mit.edu	37	3	100963501	100963501	+	Silent	SNP	T	T	C	rs199554816		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:100963501T>C	ENST00000193391.7	-	13	1861	c.1674A>G	c.(1672-1674)tcA>tcG	p.S558S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	558					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.S558S(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TCAGATATGGTGAAGATGTTA	0.418													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20225	0.0		0.0	False		,,,				2504	0.0				p.S558S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1674G	3						.						148.0	131.0	137.0					3																	100963501		2203	4300	6503	102446191	SO:0001819	synonymous_variant	50939	exon13			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1674A>G	3.37:g.100963501T>C			102446191	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	CCDS2940.1																																																																																				0.418	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
SENP7	57337	broad.mit.edu	37	3	101044796	101044796	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:101044796G>A	ENST00000394095.2	-	24	3197	c.3144C>T	c.(3142-3144)agC>agT	p.S1048S	SENP7_ENST00000348610.3_Silent_p.S1015S|SENP7_ENST00000394091.1_Silent_p.S884S|SENP7_ENST00000394094.2_Silent_p.S983S|SENP7_ENST00000394085.3_Silent_p.S236S|SENP7_ENST00000358203.3_Silent_p.S884S|SENP7_ENST00000314261.7_Silent_p.S982S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1048	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.S982S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTAGCTACTGCTGCCCTTCT	0.403																																					p.S1048S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3144T	3						.						158.0	141.0	147.0					3																	101044796		2203	4300	6503	102527486	SO:0001819	synonymous_variant	57337	exon24				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.3144C>T	3.37:g.101044796G>A			102527486	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.403	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
ATP2B2	491	broad.mit.edu	37	3	10370508	10370508	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:10370508G>A	ENST00000352432.4	-	22	3791	c.3722C>T	c.(3721-3723)aCg>aTg	p.T1241M	ATP2B2_ENST00000343816.4_Missense_Mutation_p.T1227M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T1241M|ATP2B2_ENST00000467702.2_5'UTR|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000397077.1_Missense_Mutation_p.T1196M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T1196M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1241					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.T1196M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTAAAGCGACGTCTCCAGGCT	0.622																																					p.T1196M	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3587T	3						.						95.0	84.0	88.0					3																	10370508		2203	4300	6503	10345508	SO:0001583	missense	491	exon20			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3722C>T	3.37:g.10370508G>A	ENSP00000324172:p.Thr1241Met		10345508	NM_001683	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388440	0.82902	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124	D;D;D;D;D;D	0.95412	-3.7;-3.65;-3.65;-3.7;-3.7;-3.62	5.97	5.97	0.96955	.	0.107189	0.64402	D	0.000006	D	0.97813	0.9282	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.97952	1.0332	10	0.87932	D	0	-7.9827	20.417	0.99027	0.0:0.0:1.0:0.0	.	1176;1208;1241	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	1241;1196;1196;1241;1227;1176;430;1097	ENSP00000324172:T1241M;ENSP00000373311:T1196M;ENSP00000380267:T1196M;ENSP00000353414:T1241M;ENSP00000344677:T1227M;ENSP00000414854:T1097M	ENSP00000344677:T1227M	T	-	2	0	ATP2B2	10345508	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.018000	0.88722	2.832000	0.97577	0.585000	0.79938	ACG		0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
ATP2B2	491	broad.mit.edu	37	3	10400396	10400396	+	Silent	SNP	G	G	A	rs144982689		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:10400396G>A	ENST00000352432.4	-	13	2184	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	ATP2B2_ENST00000343816.4_Silent_p.I691I|ATP2B2_ENST00000360273.2_Silent_p.I705I|ATP2B2_ENST00000397077.1_Silent_p.I660I|ATP2B2_ENST00000383800.4_Silent_p.I660I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	705					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.I660I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCGGGTCCTCGATGCCCACCA	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19729	0.0		0.0	False		,,,				2504	0.0				p.I660I	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1980T	3						.	G	,	3,4403	6.2+/-15.9	0,3,2200	52.0	40.0	44.0		2115,1980	0.1	1.0	3	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ATP2B2	NM_001001331.2,NM_001683.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	705/1244,660/1199	10400396	3,13003	2203	4300	6503	10375396	SO:0001819	synonymous_variant	491	exon11			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2115C>T	3.37:g.10400396G>A			10375396	NM_001683	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.647	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
NXPE3	91775	broad.mit.edu	37	3	101520176	101520176	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:101520176G>A	ENST00000491511.2	+	5	1147	c.191G>A	c.(190-192)gGc>gAc	p.G64D	NXPE3_ENST00000422132.1_Missense_Mutation_p.G64D|NXPE3_ENST00000273347.5_Missense_Mutation_p.G64D|NXPE3_ENST00000477909.1_Missense_Mutation_p.G64D	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	64						extracellular region (GO:0005576)		p.G64D(1)									CCCTACTGTGGCTATGATCAG	0.557																																					p.G64D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	3						.						130.0	125.0	127.0					3																	101520176		2203	4300	6503	103002866	SO:0001583	missense	91775	exon5			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.191G>A	3.37:g.101520176G>A	ENSP00000417485:p.Gly64Asp		103002866	NM_001134456	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544003	0.45280	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.67	5.67	0.87782	.	0.101551	0.64402	D	0.000002	T	0.05686	0.0149	N	0.08118	0	0.46774	D	0.999198	B	0.25521	0.128	B	0.23275	0.045	T	0.44697	-0.9311	10	0.12103	T	0.63	-18.2657	13.3646	0.60676	0.072:0.0:0.928:0.0	.	64	Q969Y0	FA55C_HUMAN	D	64	ENSP00000273347:G64D;ENSP00000417485:G64D;ENSP00000418369:G64D;ENSP00000396421:G64D	ENSP00000273347:G64D	G	+	2	0	FAM55C	103002866	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.148000	0.50647	2.836000	0.97738	0.655000	0.94253	GGC		0.557	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
SLC6A11	6538	broad.mit.edu	37	3	10885939	10885939	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:10885939G>A	ENST00000254488.2	+	5	730	c.664G>A	c.(664-666)Ggg>Agg	p.G222R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	222					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G222R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CGAGCACATCGGGAACCTTCG	0.582																																					p.G222R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	3						.						132.0	112.0	119.0					3																	10885939		2203	4300	6503	10860939	SO:0001583	missense	6538	exon5			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.664G>A	3.37:g.10885939G>A	ENSP00000254488:p.Gly222Arg		10860939	NM_014229	B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347723	0.95807	.	.	ENSG00000132164	ENST00000254488	D	0.87729	-2.29	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98274	1.0505	10	0.87932	D	0	.	19.5127	0.95148	0.0:0.0:1.0:0.0	.	222	P48066	S6A11_HUMAN	R	222	ENSP00000254488:G222R	ENSP00000254488:G222R	G	+	1	0	SLC6A11	10860939	1.000000	0.71417	0.974000	0.42286	0.971000	0.66376	9.441000	0.97557	2.693000	0.91896	0.650000	0.86243	GGG		0.582	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
CBLB	868	broad.mit.edu	37	3	105452858	105452858	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:105452858A>G	ENST00000264122.4	-	9	1519	c.1198T>C	c.(1198-1200)Tgg>Cgg	p.W400R	CBLB_ENST00000405772.1_Missense_Mutation_p.W400R|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.W400R|CBLB_ENST00000394027.3_Missense_Mutation_p.W422R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	400					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W400R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TATACCTGCCATGCCGTAAGG	0.398			Mis S		AML																																p.W400R	GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1198C	3						.						90.0	85.0	87.0					3																	105452858		2203	4300	6503	106935548	SO:0001583	missense	868	exon9			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1198T>C	3.37:g.105452858A>G	ENSP00000264122:p.Trp400Arg		106935548	NM_170662	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098694	0.76870	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26	5.38	5.38	0.77491	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.76938	2.355	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.996	D;P;D	0.80764	0.965;0.904;0.994	D	0.99414	1.0931	10	0.87932	D	0	-0.7634	15.3794	0.74641	1.0:0.0:0.0:0.0	.	422;400;400	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	R	400;422;400;400	ENSP00000264122:W400R;ENSP00000377595:W422R;ENSP00000384816:W400R;ENSP00000384938:W400R	ENSP00000264122:W400R	W	-	1	0	CBLB	106935548	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	8.909000	0.92647	2.045000	0.60652	0.477000	0.44152	TGG		0.398	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	
SLC6A1	6529	broad.mit.edu	37	3	11068007	11068007	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:11068007A>G	ENST00000287766.4	+	10	1461	c.1040A>G	c.(1039-1041)cAt>cGt	p.H347R	SLC6A1_ENST00000536032.1_Missense_Mutation_p.H169R	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	347					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.H347R(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTCATGGCCCATGTCACCAAG	0.577																																					p.H347R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1040G	3						.						161.0	139.0	146.0					3																	11068007		2203	4300	6503	11043007	SO:0001583	missense	6529	exon10				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1040A>G	3.37:g.11068007A>G	ENSP00000287766:p.His347Arg		11043007	NM_003042	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688263	0.68271	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.73789	-0.78;-0.78	5.25	5.25	0.73442	.	0.192699	0.35013	N	0.003510	T	0.78824	0.4344	M	0.76433	2.335	0.53688	D	0.999976	B	0.30114	0.269	B	0.39068	0.289	T	0.79334	-0.1846	10	0.54805	T	0.06	.	15.4476	0.75243	1.0:0.0:0.0:0.0	.	347	P30531	SC6A1_HUMAN	R	347;169	ENSP00000287766:H347R;ENSP00000445171:H169R	ENSP00000287766:H347R	H	+	2	0	SLC6A1	11043007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.032000	0.93736	2.126000	0.65437	0.533000	0.62120	CAT		0.577	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	
MYH15	22989	broad.mit.edu	37	3	108183656	108183656	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:108183656C>T	ENST00000273353.3	-	16	1676	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	540	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.M540I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAGGATGCCCATTGGCTGTT	0.423																																					p.M540I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1620A	3						.						87.0	80.0	82.0					3																	108183656		1871	4106	5977	109666346	SO:0001583	missense	22989	exon16			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1620G>A	3.37:g.108183656C>T	ENSP00000273353:p.Met540Ile		109666346	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210304	0.39003	.	.	ENSG00000144821	ENST00000273353	T	0.71461	-0.57	4.84	3.04	0.35103	Myosin head, motor domain (3);	.	.	.	.	T	0.70666	0.3250	M	0.69823	2.125	0.38276	D	0.942299	B	0.23058	0.079	B	0.34991	0.193	T	0.69712	-0.5071	9	0.87932	D	0	.	8.3297	0.32178	0.0:0.6833:0.0:0.3167	.	540	Q9Y2K3	MYH15_HUMAN	I	540	ENSP00000273353:M540I	ENSP00000273353:M540I	M	-	3	0	MYH15	109666346	0.978000	0.34361	0.309000	0.25155	0.919000	0.55068	0.366000	0.20365	0.477000	0.27464	0.467000	0.42956	ATG		0.423	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
SLC9C1	285335	broad.mit.edu	37	3	111921142	111921142	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:111921142T>C	ENST00000305815.5	-	18	2529	c.2277A>G	c.(2275-2277)atA>atG	p.I759M	SLC9C1_ENST00000487372.1_Missense_Mutation_p.I711M	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	759					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.I759M(1)									TTATGGTCATTATGTCTGCTT	0.368																																					p.I759M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2277G	3						.						131.0	133.0	132.0					3																	111921142		2203	4300	6503	113403832	SO:0001583	missense	285335	exon18			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2277A>G	3.37:g.111921142T>C	ENSP00000306627:p.Ile759Met		113403832	NM_183061	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	9.097	1.003067	0.19121	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;T	0.81499	-1.5;-1.46	5.78	0.487	0.16842	.	0.196307	0.34959	N	0.003549	T	0.80110	0.4563	L	0.58810	1.83	0.19300	N	0.999972	P;P	0.36683	0.565;0.468	P;B	0.49799	0.622;0.201	T	0.71623	-0.4537	10	0.66056	D	0.02	.	4.4797	0.11760	0.0:0.1832:0.3227:0.4941	.	711;759	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	M	759;711	ENSP00000306627:I759M;ENSP00000420688:I711M	ENSP00000306627:I759M	I	-	3	3	SLC9A10	113403832	0.928000	0.31464	0.559000	0.28332	0.099000	0.18886	0.104000	0.15313	-0.136000	0.11475	-0.314000	0.08810	ATA		0.368	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
CD200R1	131450	broad.mit.edu	37	3	112648042	112648042	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:112648042A>G	ENST00000471858.1	-	3	678	c.446T>C	c.(445-447)gTg>gCg	p.V149A	CD200R1_ENST00000308611.3_Missense_Mutation_p.V172A|CD200R1_ENST00000295863.4_Missense_Mutation_p.V127A|CD200R1_ENST00000440122.2_Missense_Mutation_p.V172A|CD200R1_ENST00000490004.1_Missense_Mutation_p.V149A	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	149	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.V172A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTTACCTAACACTTGGAGGTG	0.418																																					p.V172A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T515C	3						.						107.0	102.0	104.0					3																	112648042		2203	4300	6503	114130732	SO:0001583	missense	131450	exon4			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.446T>C	3.37:g.112648042A>G	ENSP00000418928:p.Val149Ala		114130732	NM_138939	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911411	0.72983	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092855	0.47093	D	0.000255	T	0.74489	0.3723	M	0.85041	2.73	0.38436	D	0.94658	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;0.969;0.977;0.994;0.989	T	0.80973	-0.1143	10	0.87932	D	0	.	13.0684	0.59046	1.0:0.0:0.0:0.0	.	127;149;172;149;172	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	A	149;172;127;172;149	ENSP00000418928:V149A;ENSP00000311035:V172A;ENSP00000295863:V127A;ENSP00000405733:V172A;ENSP00000418801:V149A	ENSP00000295863:V127A	V	-	2	0	CD200R1	114130732	0.987000	0.35691	0.995000	0.50966	0.781000	0.44180	5.260000	0.65490	2.064000	0.61679	0.455000	0.32223	GTG		0.418	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
SPICE1	152185	broad.mit.edu	37	3	113169281	113169281	+	Missense_Mutation	SNP	C	C	T	rs200177650		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:113169281C>T	ENST00000295872.4	-	15	2484	c.2225G>A	c.(2224-2226)cGt>cAt	p.R742H		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	742					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.R742H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TAGTTTTCCACGAGCCTCCAT	0.433																																					p.R742H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2225A	3						.	C	HIS/ARG	0,4406		0,0,2203	125.0	113.0	117.0		2225	5.3	1.0	3		117	2,8598	2.2+/-6.3	0,2,4298	no	missense	SPICE1	NM_144718.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	742/856	113169281	2,13004	2203	4300	6503	114651971	SO:0001583	missense	152185	exon15			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2225G>A	3.37:g.113169281C>T	ENSP00000295872:p.Arg742His		114651971	NM_144718	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779648	0.90195	0.0	2.33E-4	ENSG00000163611	ENST00000295872	T	0.71222	-0.55	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	M	0.74258	2.255	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85446	0.1158	10	0.87932	D	0	-10.3055	16.3533	0.83225	0.0:1.0:0.0:0.0	.	638;742	B3KX77;Q8N0Z3	.;SPICE_HUMAN	H	742	ENSP00000295872:R742H	ENSP00000295872:R742H	R	-	2	0	SPICE1	114651971	0.998000	0.40836	0.957000	0.39632	0.997000	0.91878	4.284000	0.58983	2.660000	0.90430	0.557000	0.71058	CGT		0.433	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
KIAA1407	57577	broad.mit.edu	37	3	113720468	113720468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:113720468G>A	ENST00000295878.3	-	13	2283	c.2137C>T	c.(2137-2139)Cga>Tga	p.R713*	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	713								p.R713*(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTCTTCTCGTTTTCTTTCA	0.448																																					p.R713X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2137T	3						.						306.0	286.0	293.0					3																	113720468		2203	4300	6503	115203158	SO:0001587	stop_gained	57577	exon13			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2137C>T	3.37:g.113720468G>A	ENSP00000295878:p.Arg713*		115203158	NM_020817	B4DYL1|Q9P2E0	Nonsense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	41	8.769281	0.98948	.	.	ENSG00000163617	ENST00000295878	.	.	.	5.19	3.33	0.38152	.	0.323890	0.31760	N	0.007110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8609	0.52465	0.0:0.0:0.6821:0.3179	.	.	.	.	X	713	.	ENSP00000295878:R713X	R	-	1	2	KIAA1407	115203158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.213000	0.42844	0.816000	0.34421	0.650000	0.86243	CGA		0.448	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
POLQ	10721	broad.mit.edu	37	3	121248579	121248579	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:121248579A>G	ENST00000264233.5	-	7	1149	c.1021T>C	c.(1021-1023)Tta>Cta	p.L341L	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	341	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.L474L(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)		CAAAAAAGTAATACTGAATGG	0.363								DNA polymerases (catalytic subunits)																													p.L341L	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1021C	3						.						135.0	128.0	130.0					3																	121248579		2203	4300	6503	122731269	SO:0001819	synonymous_variant	10721	exon7			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.1021T>C	3.37:g.121248579A>G			122731269	NM_199420	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
FBXO40	51725	broad.mit.edu	37	3	121340854	121340854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:121340854C>T	ENST00000338040.4	+	3	992	c.578C>T	c.(577-579)gCa>gTa	p.A193V		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	193					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A193V(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGGGAGATGGCAGAGCTAAGT	0.493																																					p.A193V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578T	3						.						121.0	131.0	128.0					3																	121340854		2203	4300	6503	122823544	SO:0001583	missense	51725	exon3			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.578C>T	3.37:g.121340854C>T	ENSP00000337510:p.Ala193Val		122823544	NM_016298	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	2.162	-0.392028	0.04932	.	.	ENSG00000163833	ENST00000338040	T	0.14022	2.54	5.62	-5.67	0.02444	.	1.945480	0.01982	N	0.044903	T	0.04861	0.0131	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36359	-0.9751	10	0.28530	T	0.3	5.4218	10.2131	0.43152	0.1142:0.1343:0.0:0.7514	.	193	Q9UH90	FBX40_HUMAN	V	193	ENSP00000337510:A193V	ENSP00000337510:A193V	A	+	2	0	FBXO40	122823544	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	-0.779000	0.04659	-0.955000	0.03636	-0.136000	0.14681	GCA		0.493	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
FBXO40	51725	broad.mit.edu	37	3	121341579	121341579	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:121341579C>T	ENST00000338040.4	+	3	1717	c.1303C>T	c.(1303-1305)Cca>Tca	p.P435S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	435					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P435S(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAACTTTGAGCCAGAACAGTT	0.522																																					p.P435S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1303T	3						.						91.0	93.0	93.0					3																	121341579		2203	4300	6503	122824269	SO:0001583	missense	51725	exon3			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1303C>T	3.37:g.121341579C>T	ENSP00000337510:p.Pro435Ser		122824269	NM_016298	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.292744	0.01375	.	.	ENSG00000163833	ENST00000338040	T	0.44083	0.93	5.97	0.561	0.17285	.	0.543676	0.21418	N	0.074873	T	0.15392	0.0371	N	0.04090	-0.28	0.25723	N	0.985351	B	0.15473	0.013	B	0.12156	0.007	T	0.32745	-0.9895	10	0.05436	T	0.98	-0.0529	8.9031	0.35507	0.0:0.3129:0.5392:0.1479	.	435	Q9UH90	FBX40_HUMAN	S	435	ENSP00000337510:P435S	ENSP00000337510:P435S	P	+	1	0	FBXO40	122824269	0.000000	0.05858	0.992000	0.48379	0.990000	0.78478	0.025000	0.13577	0.074000	0.16767	-0.211000	0.12701	CCA		0.522	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
GOLGB1	2804	broad.mit.edu	37	3	121415418	121415418	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:121415418C>T	ENST00000340645.5	-	13	4062	c.3937G>A	c.(3937-3939)Gaa>Aaa	p.E1313K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1318K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1313					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1313K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCTCTATTTCCTTCAGCTGG	0.433																																					p.E1313K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3937A	3						.						67.0	70.0	69.0					3																	121415418		2203	4300	6503	122898108	SO:0001583	missense	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3937G>A	3.37:g.121415418C>T	ENSP00000341848:p.Glu1313Lys		122898108	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431419	0.25813	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.24350	2.45;2.45;1.86	5.88	5.0	0.66597	.	0.095344	0.46145	D	0.000316	T	0.38026	0.1025	L	0.52364	1.645	0.29882	N	0.825972	P;P;D;P;D	0.71674	0.767;0.767;0.998;0.649;0.996	B;B;D;B;P	0.80764	0.439;0.439;0.994;0.439;0.877	T	0.23297	-1.0192	10	0.14656	T	0.56	.	8.4545	0.32890	0.0:0.7631:0.1563:0.0806	.	1238;1277;1318;1318;1313	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	1313;1318;1277	ENSP00000341848:E1313K;ENSP00000377275:E1318K;ENSP00000418231:E1277K	ENSP00000341848:E1313K	E	-	1	0	GOLGB1	122898108	0.818000	0.29161	0.953000	0.39169	0.273000	0.26683	1.737000	0.38197	1.477000	0.48234	0.655000	0.94253	GAA		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
SEMA5B	54437	broad.mit.edu	37	3	122630829	122630829	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:122630829C>A	ENST00000357599.3	-	20	3370	c.2984G>T	c.(2983-2985)gGg>gTg	p.G995V	SEMA5B_ENST00000451055.2_Missense_Mutation_p.G1049V|SEMA5B_ENST00000195173.4_Missense_Mutation_p.G993V	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	995	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G1049V(1)|p.G995V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCGCTGGACCCTGGGAGGAG	0.657																																					p.G995V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2984T	3						.						27.0	33.0	31.0					3																	122630829		2203	4300	6503	124113519	SO:0001583	missense	54437	exon20			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2984G>T	3.37:g.122630829C>A	ENSP00000350215:p.Gly995Val		124113519	NM_001031702	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.288515|2.288515	0.40494|0.40494	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000451541|ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T|T;T;T;T	0.64085|0.23147	-0.08|1.92;1.92;1.92;1.92	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.187750|0.187750	0.44483|0.44483	D|D	0.000451|0.000451	T|T	0.34483|0.34483	0.0899|0.0899	M|M	0.89601|0.89601	3.045|3.045	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B	.|0.15473	.|0.013;0.009	.|B;B	.|0.17722	.|0.009;0.019	T|T	0.20273|0.20273	-1.0280|-1.0280	8|10	0.62326|0.20046	D|T	0.03|0.44	.|.	10.5033|10.5033	0.44819|0.44819	0.0:0.9025:0.0:0.0975|0.0:0.9025:0.0:0.0975	.|.	.|901;995	.|D3YTI7;Q9P283	.|.;SEM5B_HUMAN	C|V	41|995;993;901;1049;995	ENSP00000400828:G41C|ENSP00000350215:G995V;ENSP00000195173:G993V;ENSP00000389588:G1049V;ENSP00000377208:G995V	ENSP00000400828:G41C|ENSP00000195173:G993V	G|G	-|-	1|2	0|0	SEMA5B|SEMA5B	124113519|124113519	0.083000|0.083000	0.21467|0.21467	0.971000|0.971000	0.41717|0.41717	0.766000|0.766000	0.43426|0.43426	1.523000|1.523000	0.35932|0.35932	2.551000|2.551000	0.86045|0.86045	0.561000|0.561000	0.74099|0.74099	GGT|GGG		0.657	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
MYLK	4638	broad.mit.edu	37	3	123419152	123419152	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:123419152G>A	ENST00000475616.1	-	15	3162	c.3163C>T	c.(3163-3165)Cct>Tct	p.P1055S	MYLK_ENST00000360304.3_Missense_Mutation_p.P1055S|MYLK_ENST00000346322.5_Missense_Mutation_p.P986S|MYLK_ENST00000359169.1_Missense_Mutation_p.P1055S|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.P1055S			Q15746	MYLK_HUMAN	myosin light chain kinase	1055	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.P1055S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTCATCAGGCTTGGCATTG	0.537																																					p.P1055S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3163T	3						.						244.0	250.0	248.0					3																	123419152		2203	4300	6503	124901842	SO:0001583	missense	4638	exon18			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3163C>T	3.37:g.123419152G>A	ENSP00000418335:p.Pro1055Ser		124901842	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633546	0.29068	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67523	-0.27;-0.21;-0.27;-0.26;-0.21	5.64	4.75	0.60458	.	.	.	.	.	T	0.69214	0.3086	M	0.67953	2.075	0.40838	D	0.983643	D;B;D;B;B;B	0.58268	0.982;0.003;0.981;0.034;0.107;0.043	P;B;P;B;B;B	0.57101	0.625;0.011;0.813;0.026;0.041;0.018	T	0.68224	-0.5465	9	0.15499	T	0.54	.	4.9241	0.13885	0.0766:0.126:0.5931:0.2043	.	1055;133;986;1055;986;1055	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	S	1055;1055;1055;986;1055	ENSP00000354004:P1055S;ENSP00000353452:P1055S;ENSP00000352088:P1055S;ENSP00000320622:P986S;ENSP00000418335:P1055S	ENSP00000320622:P986S	P	-	1	0	MYLK	124901842	0.024000	0.19004	0.983000	0.44433	0.406000	0.30931	0.511000	0.22739	1.358000	0.45922	0.462000	0.41574	CCT		0.537	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
KALRN	8997	broad.mit.edu	37	3	124103831	124103831	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:124103831A>C	ENST00000240874.3	+	11	2061	c.1904A>C	c.(1903-1905)cAg>cCg	p.Q635P	KALRN_ENST00000360013.3_Missense_Mutation_p.Q635P|KALRN_ENST00000460856.1_Missense_Mutation_p.Q635P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	635					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.Q635P(2)		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						AGGGTGGAGCAGCGGAAGCTT	0.587																																					p.Q635P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1904C	3						.						95.0	81.0	86.0					3																	124103831		2203	4300	6503	125586521	SO:0001583	missense	8997	exon11			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	ENST00000240874.3:c.1904A>C	3.37:g.124103831A>C	ENSP00000240874:p.Gln635Pro		125586521	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.6|27.6	4.845107|4.845107	0.91197|0.91197	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.51574|.	0.77;0.77;0.7;0.77|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.141979|.	0.48767|.	D|.	0.000169|.	T|T	0.63780|0.63780	0.2540|0.2540	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	P;P;P|.	0.48162|.	0.842;0.906;0.81|.	P;P;P|.	0.56216|.	0.794;0.575;0.69|.	T|T	0.61603|0.61603	-0.7029|-0.7029	10|5	0.62326|.	D|.	0.03|.	.|.	15.2714|15.2714	0.73705|0.73705	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	635;635;635|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	P|R	635;635;635;111|613	ENSP00000418611:Q635P;ENSP00000240874:Q635P;ENSP00000353109:Q635P;ENSP00000402950:Q111P|.	ENSP00000240874:Q635P|.	Q|S	+|+	2|1	0|0	KALRN|KALRN	125586521|125586521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.083000|9.083000	0.94067|0.94067	2.181000|2.181000	0.69327|0.69327	0.460000|0.460000	0.39030|0.39030	CAG|AGC		0.587	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
HEG1	57493	broad.mit.edu	37	3	124732381	124732381	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:124732381A>G	ENST00000311127.4	-	6	2109	c.2042T>C	c.(2041-2043)gTg>gCg	p.V681A	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	681	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V681A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGATTGTGACACAGAGGGCAG	0.488																																					p.V681A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2042C	3						.						60.0	62.0	62.0					3																	124732381		2080	4217	6297	126215071	SO:0001583	missense	57493	exon6			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2042T>C	3.37:g.124732381A>G	ENSP00000311502:p.Val681Ala		126215071	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413786	0.42817	.	.	ENSG00000173706	ENST00000311127	D	0.88354	-2.37	5.54	0.191	0.15130	.	0.484707	0.14893	U	0.292268	D	0.84074	0.5392	L	0.60455	1.87	0.09310	N	0.999997	P;P	0.48294	0.908;0.851	B;B	0.42495	0.389;0.217	T	0.75294	-0.3368	10	0.56958	D	0.05	.	5.1518	0.15013	0.5574:0.2875:0.1551:0.0	.	681;681	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	A	681	ENSP00000311502:V681A	ENSP00000311502:V681A	V	-	2	0	HEG1	126215071	0.000000	0.05858	0.016000	0.15963	0.023000	0.10783	-0.196000	0.09532	0.176000	0.19873	-0.316000	0.08728	GTG		0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
NUP210	23225	broad.mit.edu	37	3	13421214	13421214	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:13421214G>A	ENST00000254508.5	-	7	907	c.825C>T	c.(823-825)tcC>tcT	p.S275S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	275					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.S275S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGGAAGGCATGGAGAGTTCTG	0.552																																					p.S275S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C825T	3						.						35.0	35.0	35.0					3																	13421214		2203	4300	6503	13396214	SO:0001819	synonymous_variant	23225	exon7			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.825C>T	3.37:g.13421214G>A			13396214	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																				0.552	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
NPHP3	27031	broad.mit.edu	37	3	132403521	132403521	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:132403521T>C	ENST00000337331.5	-	24	3533	c.3447A>G	c.(3445-3447)aaA>aaG	p.K1149K	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1149					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.K1149K(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TATCATACTGTTTCTTTTCAT	0.428																																					p.K1149K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3447G	3						.						101.0	98.0	99.0					3																	132403521		2203	4300	6503	133886211	SO:0001819	synonymous_variant	27031	exon24			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3447A>G	3.37:g.132403521T>C			133886211	NM_153240	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	CCDS3078.1																																																																																				0.428	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	
PCCB	5096	broad.mit.edu	37	3	136019906	136019906	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:136019906C>A	ENST00000251654.4	+	9	989	c.919C>A	c.(919-921)Cct>Act	p.P307T	PCCB_ENST00000468777.1_Missense_Mutation_p.P338T|PCCB_ENST00000466072.1_Missense_Mutation_p.P307T|PCCB_ENST00000469217.1_Missense_Mutation_p.P327T|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000482086.1_Missense_Mutation_p.P191T|PCCB_ENST00000490504.1_Missense_Mutation_p.P250T|PCCB_ENST00000471595.1_Missense_Mutation_p.P307T|PCCB_ENST00000462637.1_Missense_Mutation_p.P284T|PCCB_ENST00000483687.1_Missense_Mutation_p.P288T|PCCB_ENST00000474833.1_3'UTR	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	307	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.P307T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CACAATTGTCCCTTTGGAATC	0.468																																					p.P327T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C979A	3						.						220.0	188.0	199.0					3																	136019906		2203	4300	6503	137502596	SO:0001583	missense	5096	exon10				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.919C>A	3.37:g.136019906C>A	ENSP00000251654:p.Pro307Thr		137502596	NM_001178014	B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677230	0.88445	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.17	5.17	0.71159	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96409	0.9303	10	0.87932	D	0	.	18.2903	0.90127	0.0:1.0:0.0:0.0	.	224;327;307;307	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	T	307;250;288;338;284;307;191;307;327	ENSP00000251654:P307T;ENSP00000418307:P250T;ENSP00000420639:P288T;ENSP00000419129:P338T;ENSP00000420391:P284T;ENSP00000420158:P307T;ENSP00000417253:P191T;ENSP00000417549:P307T;ENSP00000419027:P327T	ENSP00000251654:P307T	P	+	1	0	PCCB	137502596	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.976000	0.76135	2.402000	0.81655	0.655000	0.94253	CCT		0.468	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1		
ARMC8	25852	broad.mit.edu	37	3	137963980	137963980	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:137963980G>A	ENST00000469044.1	+	12	1360	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	ARMC8_ENST00000481646.1_Silent_p.K349K|ARMC8_ENST00000491704.1_Silent_p.K321K|ARMC8_ENST00000461822.1_Silent_p.K296K|ARMC8_ENST00000538260.1_Silent_p.K332K|ARMC8_ENST00000485396.1_Silent_p.K290K|ARMC8_ENST00000489213.1_Silent_p.K321K|ARMC8_ENST00000358441.2_Silent_p.K349K|ARMC8_ENST00000471453.1_Silent_p.K349K|ARMC8_ENST00000470821.1_Silent_p.K363K|ARMC8_ENST00000393058.3_Silent_p.K353K	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	363								p.K349K(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTGCATTCAAGCTCTATGCCT	0.488																																					p.K349K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1047A	3						.						82.0	77.0	79.0					3																	137963980		2203	4300	6503	139446670	SO:0001819	synonymous_variant	25852	exon13				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1089G>A	3.37:g.137963980G>A			139446670	NM_213654	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37		.	.	.	.	.	.	.	.	.	.	G	5.557	0.287691	0.10513	.	.	ENSG00000114098	ENST00000469860	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.73369	0.3578	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72104	-0.4391	4	.	.	.	-23.6623	16.7031	0.85364	0.0:0.0:1.0:0.0	.	.	.	.	N	77	.	.	S	+	2	0	ARMC8	139446670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.374000	0.59543	2.522000	0.85027	0.650000	0.86243	AGC		0.488	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
FGD5	152273	broad.mit.edu	37	3	14862301	14862301	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:14862301A>G	ENST00000285046.5	+	1	1833	c.1723A>G	c.(1723-1725)Agg>Ggg	p.R575G	FGD5_ENST00000543601.1_Missense_Mutation_p.R334G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	575					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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.R334G(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGATGACCACAGGATAAAGAG	0.552																																					p.R575G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1723G	3						.						36.0	38.0	37.0					3																	14862301		1945	4151	6096	14837305	SO:0001583	missense	152273	exon1			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1723A>G	3.37:g.14862301A>G	ENSP00000285046:p.Arg575Gly		14837305	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	7.211	0.595423	0.13875	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.79554	-1.28;-1.08	5.29	-10.6	0.00265	.	0.000000	0.56097	D	0.000033	T	0.62221	0.2410	L	0.41824	1.3	0.20403	N	0.9999	B;B	0.18461	0.028;0.028	B;B	0.16289	0.01;0.015	T	0.33137	-0.9880	10	0.46703	T	0.11	-12.4611	8.782	0.34798	0.153:0.639:0.1302:0.0779	.	334;575	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	G	575;334	ENSP00000285046:R575G;ENSP00000445949:R334G	ENSP00000285046:R575G	R	+	1	2	FGD5	14837305	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.118000	0.15605	-2.213000	0.00735	-0.297000	0.09499	AGG		0.552	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
NR2C2	7182	broad.mit.edu	37	3	15084484	15084484	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:15084484A>G	ENST00000425241.1	+	14	2122	c.1760A>G	c.(1759-1761)tAt>tGt	p.Y587C	MRPS25_ENST00000496484.1_5'UTR|NR2C2_ENST00000406272.2_Missense_Mutation_p.Y587C|NR2C2_ENST00000393102.3_Missense_Mutation_p.Y587C|NR2C2_ENST00000323373.6_Missense_Mutation_p.Y606C|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	587					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Y606C(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACAGCAGAGTATAATGGCCAG	0.448																																					p.Y606C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1817G	3						.						102.0	88.0	93.0					3																	15084484		2203	4300	6503	15059488	SO:0001583	missense	7182	exon15			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1760A>G	3.37:g.15084484A>G	ENSP00000388387:p.Tyr587Cys		15059488	NM_003298	A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37		.	.	.	.	.	.	.	.	.	.	A	18.37	3.608541	0.66558	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.95821	-3.78;-3.82;-3.78;-3.78	5.76	4.6	0.57074	.	0.053141	0.85682	N	0.000000	D	0.97192	0.9082	M	0.77820	2.39	0.80722	D	1	D;B	0.89917	1.0;0.011	D;B	0.74674	0.984;0.005	D	0.97183	0.9852	10	0.72032	D	0.01	.	11.9592	0.52999	0.9321:0.0:0.0679:0.0	.	587;606	P49116;F2YGU2	NR2C2_HUMAN;.	C	587;606;587;587	ENSP00000388387:Y587C;ENSP00000320447:Y606C;ENSP00000376814:Y587C;ENSP00000384463:Y587C	ENSP00000320447:Y606C	Y	+	2	0	NR2C2	15059488	1.000000	0.71417	0.871000	0.34182	0.888000	0.51559	9.282000	0.95840	1.117000	0.41842	-0.256000	0.11100	TAT		0.448	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	
SLC25A36	55186	broad.mit.edu	37	3	140692827	140692827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:140692827C>T	ENST00000324194.6	+	6	890	c.722C>T	c.(721-723)aCa>aTa	p.T241I	SLC25A36_ENST00000446041.2_Missense_Mutation_p.T241I|SLC25A36_ENST00000453248.2_Missense_Mutation_p.T215I|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	241					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T241I(1)		endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ACTTGTGCCACAACTATAGCA	0.368																																					p.T241I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722T	3						.						59.0	60.0	59.0					3																	140692827		2203	4300	6503	142175517	SO:0001583	missense	55186	exon6			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.722C>T	3.37:g.140692827C>T	ENSP00000320688:p.Thr241Ile		142175517	NM_001104647	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371526	0.82573	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.79033	-1.23;-1.23;-1.23	6.16	6.16	0.99307	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	L	0.46567	1.45	0.80722	D	1	P;P;D	0.89917	0.792;0.593;1.0	P;B;D	0.87578	0.596;0.381;0.998	D	0.84184	0.0441	10	0.51188	T	0.08	-8.876	18.3537	0.90348	0.0:1.0:0.0:0.0	.	215;241;241	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	I	241;241;215	ENSP00000401938:T241I;ENSP00000320688:T241I;ENSP00000391521:T215I	ENSP00000320688:T241I	T	+	2	0	SLC25A36	142175517	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.813000	0.86123	2.937000	0.99478	0.650000	0.86243	ACA		0.368	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155	
COMMD2	51122	broad.mit.edu	37	3	149459391	149459391	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:149459391G>A	ENST00000473414.1	-	5	571	c.517C>T	c.(517-519)Ctc>Ttc	p.L173F		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	173	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.L173F(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACCAAATGGAGCAGGGTGGCT	0.423																																					p.L173F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	3						.						199.0	207.0	204.0					3																	149459391		2203	4300	6503	150942081	SO:0001583	missense	51122	exon5			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.517C>T	3.37:g.149459391G>A	ENSP00000419475:p.Leu173Phe		150942081	NM_016094	Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	37	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644316	0.67244	.	.	ENSG00000114744	ENST00000473414	T	0.09723	2.95	5.76	2.89	0.33648	COMM domain (1);	0.200423	0.45361	D	0.000367	T	0.18257	0.0438	M	0.63428	1.95	0.45979	D	0.99879	P	0.51653	0.947	P	0.49922	0.626	T	0.00591	-1.1655	10	0.52906	T	0.07	-31.6501	11.129	0.48336	0.0:0.1185:0.5135:0.368	.	173	Q86X83	COMD2_HUMAN	F	173	ENSP00000419475:L173F	ENSP00000419475:L173F	L	-	1	0	COMMD2	150942081	1.000000	0.71417	0.898000	0.35279	0.997000	0.91878	1.941000	0.40233	0.303000	0.22785	0.655000	0.94253	CTC		0.423	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094	
EIF2A	83939	broad.mit.edu	37	3	150285988	150285988	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:150285988C>T	ENST00000460851.1	+	9	829	c.720C>T	c.(718-720)agC>agT	p.S240S	SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Silent_p.S235S|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Silent_p.S26S|EIF2A_ENST00000406576.3_Silent_p.S179S|EIF2A_ENST00000487799.1_Silent_p.S215S			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	240					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.S215S(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TAATAGCTAGCACAGATGTTG	0.353																																					p.S240S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C720T	3						.						99.0	94.0	96.0					3																	150285988		1874	4106	5980	151768678	SO:0001819	synonymous_variant	83939	exon9			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.720C>T	3.37:g.150285988C>T			151768678	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368522	0.24771	.	.	ENSG00000144895	ENST00000465535	.	.	.	5.95	-2.24	0.06909	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57487	-0.7803	4	.	.	.	-20.458	12.652	0.56766	0.0:0.4758:0.0:0.5242	.	.	.	.	V	14	.	.	A	+	2	0	EIF2A	151768678	0.900000	0.30661	0.982000	0.44146	0.978000	0.69477	-0.019000	0.12546	-0.307000	0.08804	-0.440000	0.05779	GCA		0.353	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025	
SIAH2	6478	broad.mit.edu	37	3	150460061	150460061	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:150460061C>T	ENST00000312960.3	-	2	1369	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	281	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R281H(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGAATCGAACGGGGCGTGGC	0.547																																					p.R281H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842A	3						.						88.0	72.0	78.0					3																	150460061		2203	4300	6503	151942751	SO:0001583	missense	6478	exon2			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.842G>A	3.37:g.150460061C>T	ENSP00000322457:p.Arg281His		151942751	NM_005067	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930955	0.92389	.	.	ENSG00000181788	ENST00000312960	T	0.29917	1.55	5.81	5.81	0.92471	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.70601	-0.4827	10	0.41790	T	0.15	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	281	O43255	SIAH2_HUMAN	H	281	ENSP00000322457:R281H	ENSP00000322457:R281H	R	-	2	0	SIAH2	151942751	1.000000	0.71417	0.971000	0.41717	0.557000	0.35523	7.802000	0.85969	2.746000	0.94184	0.591000	0.81541	CGT		0.547	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
SIAH2	6478	broad.mit.edu	37	3	150460158	150460158	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:150460158C>T	ENST00000312960.3	-	2	1272	c.745G>A	c.(745-747)Gtc>Atc	p.V249I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	249	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V249I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGAGCAGGACGATGGCAAAA	0.547																																					p.V249I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745A	3						.						94.0	80.0	84.0					3																	150460158		2203	4300	6503	151942848	SO:0001583	missense	6478	exon2			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.745G>A	3.37:g.150460158C>T	ENSP00000322457:p.Val249Ile		151942848	NM_005067	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	35	5.429622	0.96131	.	.	ENSG00000181788	ENST00000312960	T	0.27557	1.66	5.81	5.81	0.92471	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.76002	2.32	0.58432	D	0.999996	D	0.53885	0.963	P	0.54431	0.752	T	0.50575	-0.8812	10	0.52906	T	0.07	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	249	O43255	SIAH2_HUMAN	I	249	ENSP00000322457:V249I	ENSP00000322457:V249I	V	-	1	0	SIAH2	151942848	1.000000	0.71417	0.907000	0.35723	0.985000	0.73830	7.802000	0.85969	2.746000	0.94184	0.591000	0.81541	GTC		0.547	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
MME	4311	broad.mit.edu	37	3	154860085	154860085	+	Missense_Mutation	SNP	G	G	A	rs200791566		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:154860085G>A	ENST00000460393.1	+	12	1274	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	MME_ENST00000360490.2_Missense_Mutation_p.R385Q|MME_ENST00000462745.1_Missense_Mutation_p.R385Q|MME_ENST00000492661.1_Missense_Mutation_p.R385Q|MME_ENST00000493237.1_Missense_Mutation_p.R385Q	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	385					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.R385Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGCCTCAGCCGAACCTACAAG	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18743	0.0		0.0	False		,,,				2504	0.0				p.R385Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1154A	3						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	77.0	81.0	79.0		1154,1154,1154,1154	5.1	1.0	3		79	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	MME	NM_000902.3,NM_007287.2,NM_007288.2,NM_007289.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	385/751,385/751,385/751,385/751	154860085	1,13005	2203	4300	6503	156342779	SO:0001583	missense	4311	exon12				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1154G>A	3.37:g.154860085G>A	ENSP00000418525:p.Arg385Gln		156342779	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.95	2.090387	0.36855	0.0	1.16E-4	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.93	5.05	0.67936	Peptidase M13 (1);	0.134805	0.49305	D	0.000142	T	0.62478	0.2431	N	0.16478	0.41	0.40726	D	0.982704	P	0.40660	0.726	B	0.23574	0.047	T	0.67573	-0.5636	10	0.07644	T	0.81	-15.3557	14.5408	0.67995	0.0697:0.0:0.9303:0.0	.	385	P08473	NEP_HUMAN	Q	385	ENSP00000420389:R385Q;ENSP00000418525:R385Q;ENSP00000419653:R385Q;ENSP00000417079:R385Q;ENSP00000353679:R385Q	ENSP00000353679:R385Q	R	+	2	0	MME	156342779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.394000	0.66285	2.803000	0.96430	0.585000	0.79938	CGA		0.383	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
PLCH1	23007	broad.mit.edu	37	3	155199022	155199022	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:155199022T>G	ENST00000340059.7	-	23	4816	c.4817A>C	c.(4816-4818)aAc>aCc	p.N1606T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1568T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.N1568T|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1568T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1606					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.N1568T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTGCTGGGGTTTGGAACTTT	0.542																																					p.N1606T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4817C	3						.						131.0	128.0	129.0					3																	155199022		2203	4300	6503	156681716	SO:0001583	missense	23007	exon23			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4817A>C	3.37:g.155199022T>G	ENSP00000345988:p.Asn1606Thr		156681716	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	2.516	-0.311930	0.05422	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.26	-10.5	0.00291	.	1.374600	0.04252	N	0.338841	T	0.11110	0.0271	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.20042	-1.0287	10	0.39692	T	0.17	.	7.5672	0.27885	0.1424:0.0569:0.5156:0.2851	.	1568;1606	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	T	1568;1606;1568;1568	ENSP00000417502:N1568T;ENSP00000345988:N1606T;ENSP00000335469:N1568T;ENSP00000412977:N1568T	ENSP00000335469:N1568T	N	-	2	0	PLCH1	156681716	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.590000	0.05760	-1.912000	0.01081	-1.093000	0.02169	AAC		0.542	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PLCH1	23007	broad.mit.edu	37	3	155232526	155232526	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:155232526C>T	ENST00000340059.7	-	11	1581	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	PLCH1_ENST00000447496.2_Missense_Mutation_p.A528T|PLCH1_ENST00000414191.1_Missense_Mutation_p.A510T|PLCH1_ENST00000494598.1_Missense_Mutation_p.A528T|PLCH1_ENST00000460012.1_Missense_Mutation_p.A510T|PLCH1_ENST00000334686.6_Missense_Mutation_p.A510T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	528					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.A510T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCAGGTGTGCATTTAAGCCT	0.398																																					p.A528T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	3						.						91.0	81.0	84.0					3																	155232526		2203	4300	6503	156715220	SO:0001583	missense	23007	exon11			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1582G>A	3.37:g.155232526C>T	ENSP00000345988:p.Ala528Thr		156715220	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120629	0.56613	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.31247	2.0;1.97;1.5;1.97;1.97;1.97	5.8	4.92	0.64577	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.814350	0.11515	N	0.556329	T	0.29914	0.0748	L	0.48642	1.525	0.31118	N	0.709172	B;B;B	0.18166	0.026;0.015;0.002	B;B;B	0.16722	0.016;0.007;0.006	T	0.11348	-1.0591	10	0.20519	T	0.43	.	15.1542	0.72726	0.0:0.9317:0.0:0.0683	.	510;528;528	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	T	528;510;528;528;510;510	ENSP00000419100:A528T;ENSP00000417502:A510T;ENSP00000402759:A528T;ENSP00000345988:A528T;ENSP00000335469:A510T;ENSP00000412977:A510T	ENSP00000335469:A510T	A	-	1	0	PLCH1	156715220	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.352000	0.52239	2.735000	0.93741	0.655000	0.94253	GCA		0.398	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
GMPS	8833	broad.mit.edu	37	3	155655458	155655458	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:155655458C>A	ENST00000496455.2	+	16	2394	c.2059C>A	c.(2059-2061)Cca>Aca	p.P687T	GMPS_ENST00000295920.7_Missense_Mutation_p.P588T	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	687					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.P687T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	ATCAAAGCCCCCAGGAACTAC	0.333			T	MLL	AML																																p.P687T	Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2059A	3						.						52.0	50.0	50.0					3																	155655458		1809	4070	5879	157138152	SO:0001583	missense	8833	exon16			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.2059C>A	3.37:g.155655458C>A	ENSP00000419851:p.Pro687Thr		157138152	NM_003875	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934030	0.92458	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.12	5.12	0.69794	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86041	0.5838	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89393	0.3690	9	0.87932	D	0	-8.4675	18.5727	0.91142	0.0:1.0:0.0:0.0	.	588;687	F8W720;P49915	.;GUAA_HUMAN	T	687;588;636;687	.	ENSP00000295920:P588T	P	+	1	0	GMPS	157138152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.266000	0.78452	2.393000	0.81446	0.655000	0.94253	CCA		0.333	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
SI	6476	broad.mit.edu	37	3	164783180	164783180	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:164783180A>G	ENST00000264382.3	-	7	738	c.676T>C	c.(676-678)Tac>Cac	p.Y226H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	226	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Y226H(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATCTGTAAGTACTGGTCAGAG	0.323										HNSCC(35;0.089)																											p.Y226H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T676C	3						.						60.0	59.0	59.0					3																	164783180		2203	4300	6503	166265874	SO:0001583	missense	6476	exon7			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.676T>C	3.37:g.164783180A>G	ENSP00000264382:p.Tyr226His		166265874	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011614	0.75046	.	.	ENSG00000090402	ENST00000264382	D	0.82255	-1.59	5.9	5.9	0.94986	Glycoside hydrolase-type carbohydrate-binding (1);	0.236975	0.44688	D	0.000421	D	0.92786	0.7706	M	0.93462	3.42	0.40713	D	0.982599	D	0.76494	0.999	D	0.76071	0.987	D	0.94477	0.7690	10	0.87932	D	0	.	12.2135	0.54394	0.858:0.142:0.0:0.0	.	226	P14410	SUIS_HUMAN	H	226	ENSP00000264382:Y226H	ENSP00000264382:Y226H	Y	-	1	0	SI	166265874	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.795000	0.75140	2.251000	0.74343	0.528000	0.53228	TAC		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SLITRK3	22865	broad.mit.edu	37	3	164906043	164906043	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:164906043C>A	ENST00000475390.1	-	2	3019	c.2576G>T	c.(2575-2577)gGg>gTg	p.G859V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G859V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	859					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G859V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGGCGGAACCCTGCCAAGTC	0.567										HNSCC(40;0.11)																											p.G859V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2576T	3						.						89.0	85.0	86.0					3																	164906043		2203	4300	6503	166388737	SO:0001583	missense	22865	exon2			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2576G>T	3.37:g.164906043C>A	ENSP00000420091:p.Gly859Val		166388737	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442882	0.43326	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.71341	-0.56;-0.56	5.75	5.75	0.90469	.	0.000000	0.35320	N	0.003286	T	0.60431	0.2268	L	0.27053	0.805	0.80722	D	1	P	0.38195	0.622	B	0.34991	0.193	T	0.65861	-0.6065	10	0.72032	D	0.01	-12.6209	17.4463	0.87579	0.0:1.0:0.0:0.0	.	859	O94933	SLIK3_HUMAN	V	859	ENSP00000420091:G859V;ENSP00000241274:G859V	ENSP00000241274:G859V	G	-	2	0	SLITRK3	166388737	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.037000	0.64170	2.719000	0.93026	0.655000	0.94253	GGG		0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
GOLIM4	27333	broad.mit.edu	37	3	167750597	167750597	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:167750597G>T	ENST00000470487.1	-	9	1576	c.887C>A	c.(886-888)cCt>cAt	p.P296H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P268H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	296					transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P296H(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCTCTTCCAGGAACTGCTTC	0.463																																					p.P296H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C887A	3						.						116.0	118.0	117.0					3																	167750597		2203	4300	6503	169233291	SO:0001583	missense	27333	exon9			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.887C>A	3.37:g.167750597G>T	ENSP00000417354:p.Pro296His		169233291	NM_014498		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685398	0.29872	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.83	2.9	0.33743	.	0.642116	0.16105	N	0.229378	T	0.49457	0.1558	M	0.65975	2.015	0.09310	N	1	D;D	0.69078	0.967;0.997	P;P	0.58660	0.784;0.843	T	0.38693	-0.9649	9	0.44086	T	0.13	-7.9085	3.7049	0.08397	0.0897:0.1367:0.5147:0.259	.	268;296	F8W785;O00461	.;GOLI4_HUMAN	H	296;268	.	ENSP00000309893:P268H	P	-	2	0	GOLIM4	169233291	0.001000	0.12720	0.773000	0.31616	0.611000	0.37282	0.840000	0.27600	2.223000	0.72356	0.549000	0.68633	CCT		0.463	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
DNAJC19	131118	broad.mit.edu	37	3	180705821	180705821	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:180705821A>G	ENST00000382564.2	-	3	289	c.119T>C	c.(118-120)cTa>cCa	p.L40P	DNAJC19_ENST00000491873.1_Missense_Mutation_p.L15P|DNAJC19_ENST00000479269.1_Missense_Mutation_p.L15P|DNAJC19_ENST00000486355.1_Missense_Mutation_p.L40P	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	40					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.L40P(1)		large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AGATTTTGGTAGGCTTTGAAA	0.358																																					p.L40P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T119C	3						.						88.0	88.0	88.0					3																	180705821		2203	4300	6503	182188515	SO:0001583	missense	131118	exon3				CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.119T>C	3.37:g.180705821A>G	ENSP00000372005:p.Leu40Pro		182188515	NM_145261	B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100394	0.76983	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	.	.	.	5.75	5.75	0.90469	.	0.063541	0.64402	D	0.000004	T	0.69142	0.3078	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	T	0.68550	-0.5379	9	0.33141	T	0.24	-13.4378	13.594	0.61978	1.0:0.0:0.0:0.0	.	40	Q96DA6	TIM14_HUMAN	P	40;15;15	.	ENSP00000372005:L40P	L	-	2	0	DNAJC19	182188515	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.000000	0.76290	2.194000	0.70268	0.533000	0.62120	CTA		0.358	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261	
YEATS2	55689	broad.mit.edu	37	3	183504043	183504043	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:183504043C>T	ENST00000305135.5	+	20	3062	c.2867C>T	c.(2866-2868)gCc>gTc	p.A956V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	956					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.A956V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCACAACTGCCACTTCCCCT	0.507																																					p.A956V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2867T	3						.						66.0	67.0	67.0					3																	183504043		2015	4179	6194	184986737	SO:0001583	missense	55689	exon20			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2867C>T	3.37:g.183504043C>T	ENSP00000306983:p.Ala956Val		184986737	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340383	0.95783	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.23552	1.9	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	L	0.27053	0.805	0.47511	D	0.999449	D;D	0.89917	1.0;0.996	D;P	0.76575	0.988;0.877	T	0.26744	-1.0094	10	0.72032	D	0.01	-22.2414	19.8137	0.96557	0.0:1.0:0.0:0.0	.	118;956	Q8N5H6;Q9ULM3	.;YETS2_HUMAN	V	956	ENSP00000306983:A956V	ENSP00000306983:A956V	A	+	2	0	YEATS2	184986737	1.000000	0.71417	0.910000	0.35882	0.993000	0.82548	5.653000	0.67967	2.780000	0.95670	0.655000	0.94253	GCC		0.507	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
DVL3	1857	broad.mit.edu	37	3	183882716	183882716	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:183882716G>A	ENST00000313143.3	+	5	844	c.596G>A	c.(595-597)aGc>aAc	p.S199N	DVL3_ENST00000431765.1_Missense_Mutation_p.S199N|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	199					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.S199N(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GACTCCACCAGCAGGTGGGGC	0.582																																					p.S199N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G596A	3						.						58.0	58.0	58.0					3																	183882716		2203	4300	6503	185365410	SO:0001583	missense	1857	exon5			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.596G>A	3.37:g.183882716G>A	ENSP00000316054:p.Ser199Asn		185365410	NM_004423	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074675	0.76415	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.08193	3.53;3.53;3.12	5.18	5.18	0.71444	Dishevelled protein domain (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	M	0.82823	2.61	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.69824	0.966;0.966	T	0.10497	-1.0627	10	0.66056	D	0.02	-12.2112	19.0742	0.93154	0.0:0.0:1.0:0.0	.	199;199	B4E3E5;Q92997	.;DVL3_HUMAN	N	199;199;199;97	ENSP00000316054:S199N;ENSP00000405885:S199N;ENSP00000393849:S97N	ENSP00000316054:S199N	S	+	2	0	DVL3	185365410	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.582000	0.87167	0.655000	0.94253	AGC		0.582	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	
ETV5	2119	broad.mit.edu	37	3	185766542	185766542	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:185766542G>A	ENST00000306376.5	-	13	1665	c.1419C>T	c.(1417-1419)tgC>tgT	p.C473C	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Silent_p.C473C|ETV5_ENST00000537818.1_Silent_p.C515C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	473					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.C473C(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CGCTGAGGTGGCACTCGGACT	0.592			T	"""TMPRSS2, SCL45A3"""	Prostate																																p.C473C			Dom	yes		3	3q28	2119	ets variant gene 5		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1419T	3						.						79.0	70.0	73.0					3																	185766542		2203	4300	6503	187249236	SO:0001819	synonymous_variant	2119	exon13			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1419C>T	3.37:g.185766542G>A			187249236	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	CCDS33906.1																																																																																				0.592	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
HRG	3273	broad.mit.edu	37	3	186383867	186383867	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:186383867C>T	ENST00000232003.4	+	1	127	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RP11-134F2.2_ENST00000428501.1_RNA|HRG_ENST00000468154.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	16					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.S16L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTGCAGTATTCGTGTGCCGTG	0.473																																					p.S16L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C47T	3						.						115.0	101.0	106.0					3																	186383867		2203	4300	6503	187866561	SO:0001583	missense	3273	exon1				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.47C>T	3.37:g.186383867C>T	ENSP00000232003:p.Ser16Leu		187866561	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624852	0.28889	.	.	ENSG00000113905	ENST00000232003	T	0.18174	2.23	5.6	4.72	0.59763	Proteinase inhibitor I25, cystatin (1);	0.144301	0.32444	N	0.006098	T	0.23249	0.0562	L	0.52364	1.645	0.09310	N	1	D	0.76494	0.999	P	0.53006	0.715	T	0.07868	-1.0750	10	0.33141	T	0.24	-16.904	9.7579	0.40515	0.0:0.9078:0.0:0.0922	.	16	P04196	HRG_HUMAN	L	16	ENSP00000232003:S16L	ENSP00000232003:S16L	S	+	2	0	HRG	187866561	0.047000	0.20315	0.043000	0.18650	0.058000	0.15608	1.570000	0.36439	2.814000	0.96858	0.655000	0.94253	TCG		0.473	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
RTP2	344892	broad.mit.edu	37	3	187416658	187416658	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:187416658C>T	ENST00000358241.1	-	2	734	c.306G>A	c.(304-306)gcG>gcA	p.A102A		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	102					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.A102A(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CGTCCAGCCGCGCCGTGCCGC	0.647																																					p.A102A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306A	3						.						24.0	22.0	23.0					3																	187416658		2199	4275	6474	188899352	SO:0001819	synonymous_variant	344892	exon2			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.306G>A	3.37:g.187416658C>T			188899352	NM_001004312	Q6NVH4	Silent	SNP	ENST00000358241.1	37	CCDS33911.1																																																																																				0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312	
TP63	8626	broad.mit.edu	37	3	189582193	189582193	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:189582193G>A	ENST00000264731.3	+	5	841	c.752G>A	c.(751-753)cGt>cAt	p.R251H	TP63_ENST00000392463.2_Missense_Mutation_p.R157H|TP63_ENST00000354600.5_Missense_Mutation_p.R157H|TP63_ENST00000418709.2_Missense_Mutation_p.R251H|TP63_ENST00000320472.5_Missense_Mutation_p.R251H|TP63_ENST00000392460.3_Missense_Mutation_p.R251H|TP63_ENST00000392461.3_Missense_Mutation_p.R157H|TP63_ENST00000437221.1_Missense_Mutation_p.R157H|TP63_ENST00000456148.1_Missense_Mutation_p.R157H|TP63_ENST00000382063.4_Missense_Mutation_p.R166H|TP63_ENST00000449992.1_Missense_Mutation_p.R72H|TP63_ENST00000440651.2_Missense_Mutation_p.R251H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	251					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.R251H(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)		GAGCTGAGCCGTGAATTCAAC	0.512										HNSCC(45;0.13)																											p.R157H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470A	3						.						65.0	64.0	64.0					3																	189582193		2203	4300	6503	191064887	SO:0001583	missense	8626	exon3			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.752G>A	3.37:g.189582193G>A	ENSP00000264731:p.Arg251His		191064887	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	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879500	0.91740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.66;-6.67	5.85	5.85	0.93711	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;0.999;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.79784	0.977;0.988;0.988;0.958;0.977;0.977;0.987;0.981;0.993;0.992	D	0.98621	1.0667	9	.	.	.	-8.8966	19.1612	0.93533	0.0:0.0:1.0:0.0	.	72;251;251;157;157;157;157;251;251;251	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	H	251;251;251;251;251;166;157;157;157;157;72;157	ENSP00000264731:R251H;ENSP00000407144:R251H;ENSP00000317510:R251H;ENSP00000376253:R251H;ENSP00000394337:R251H;ENSP00000371495:R166H;ENSP00000346614:R157H;ENSP00000392488:R157H;ENSP00000376256:R157H;ENSP00000376254:R157H;ENSP00000387839:R72H;ENSP00000389485:R157H	.	R	+	2	0	TP63	191064887	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	8.062000	0.89475	2.768000	0.95171	0.655000	0.94253	CGT		0.512	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
LEPREL1	55214	broad.mit.edu	37	3	189689723	189689723	+	Missense_Mutation	SNP	G	G	C	rs75714029	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:189689723G>C	ENST00000319332.5	-	12	1970	c.1773C>G	c.(1771-1773)aaC>aaG	p.N591K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.N410K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	591	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.N591K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGCATTCGTTGGCCTCTG	0.453																																					p.N410K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1230G	3						.						90.0	78.0	82.0					3																	189689723		2203	4300	6503	191172417	SO:0001583	missense	55214	exon12				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1773C>G	3.37:g.189689723G>C	ENSP00000316881:p.Asn591Lys		191172417	NM_001134418	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	8.267	0.812492	0.16537	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.41400	1.0;1.0	5.76	-8.92	0.00774	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.040307	0.85682	D	0.000000	T	0.27933	0.0688	N	0.17800	0.525	0.58432	D	0.999994	P	0.42827	0.791	P	0.45946	0.498	T	0.53676	-0.8405	9	.	.	.	-23.7698	17.9736	0.89120	0.4177:0.0:0.5823:0.0	.	591	Q8IVL5	P3H2_HUMAN	K	591;410	ENSP00000316881:N591K;ENSP00000408947:N410K	.	N	-	3	2	LEPREL1	191172417	0.000000	0.05858	0.424000	0.26647	0.852000	0.48524	-2.425000	0.01028	-2.049000	0.00906	-2.054000	0.00404	AAC		0.453	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
CLDN16	10686	broad.mit.edu	37	3	190127791	190127791	+	Missense_Mutation	SNP	C	C	T	rs374751726		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:190127791C>T	ENST00000264734.2	+	5	1132	c.884C>T	c.(883-885)aCg>aTg	p.T295M	CLDN16_ENST00000456423.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	295					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.T295M(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CGCACAGAGACGGCCAAAATG	0.438																																					p.T295M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C884T	3						.	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	115.0	115.0	115.0		884	5.7	1.0	3		115	0,8600		0,0,4300	no	missense	CLDN16	NM_006580.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	295/306	190127791	1,13005	2203	4300	6503	191610485	SO:0001583	missense	10686	exon5			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.884C>T	3.37:g.190127791C>T	ENSP00000264734:p.Thr295Met		191610485	NM_006580		Missense_Mutation	SNP	ENST00000264734.2	37	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321209	0.81580	2.27E-4	0.0	ENSG00000113946	ENST00000264734	D	0.91464	-2.85	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	D	0.95118	0.8418	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95102	0.8231	10	0.72032	D	0.01	-17.409	18.8439	0.92196	0.0:1.0:0.0:0.0	.	295	Q9Y5I7	CLD16_HUMAN	M	295	ENSP00000264734:T295M	ENSP00000264734:T295M	T	+	2	0	CLDN16	191610485	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	5.677000	0.68142	2.706000	0.92434	0.650000	0.86243	ACG		0.438	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580	
OSTN	344901	broad.mit.edu	37	3	190967852	190967852	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:190967852G>A	ENST00000339051.1	+	3	344	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	115		Cleavage. {ECO:0000255}.			cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)		p.R115Q(2)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CCAAAAAGGCGATTTGGTATC	0.338																																					p.R115Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G344A	3						.						126.0	130.0	129.0					3																	190967852		2203	4300	6503	192450546	SO:0001583	missense	344901	exon3			AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.344G>A	3.37:g.190967852G>A	ENSP00000342356:p.Arg115Gln		192450546	NM_198184	A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773980	0.90108	.	.	ENSG00000188729	ENST00000339051	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	T	0.76637	0.4015	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.78481	-0.2187	9	0.87932	D	0	-19.4972	14.9373	0.70967	0.0:0.0:1.0:0.0	.	115	P61366	OSTN_HUMAN	Q	115	.	ENSP00000342356:R115Q	R	+	2	0	OSTN	192450546	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	4.724000	0.61972	2.601000	0.87937	0.655000	0.94253	CGA		0.338	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184	
CPN2	1370	broad.mit.edu	37	3	194062253	194062253	+	Silent	SNP	G	G	A	rs150039932		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:194062253G>A	ENST00000323830.3	-	2	1268	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	CPN2_ENST00000429275.1_Silent_p.H393H	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	393					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.H393H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGGGGTTACCGTGCAGGGCCA	0.597																																					p.H393H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1179T	3						.	G		1,4405	2.1+/-5.4	0,1,2202	86.0	91.0	89.0		1179	-3.4	0.7	3	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous	CPN2	NM_001080513.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		393/546	194062253	1,13005	2203	4300	6503	195543948	SO:0001819	synonymous_variant	1370	exon2			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1179C>T	3.37:g.194062253G>A			195543948	NM_001080513	B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	CCDS33920.1																																																																																				0.597	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
MUC4	4585	broad.mit.edu	37	3	195515829	195515829	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:195515829G>T	ENST00000463781.3	-	2	3081	c.2622C>A	c.(2620-2622)ccC>ccA	p.P874P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.P874P|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	879	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P874P(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGAGAGGGTGGGATGAAAGG	0.602																																					p.P874P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2622A	3						.						57.0	61.0	59.0					3																	195515829		2074	4187	6261	197000224	SO:0001819	synonymous_variant	4585	exon2			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2622C>A	3.37:g.195515829G>T			197000224	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CHL1	10752	broad.mit.edu	37	3	447269	447269	+	Missense_Mutation	SNP	G	G	A	rs200848343		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:447269G>A	ENST00000256509.2	+	28	4192	c.3550G>A	c.(3550-3552)Gga>Aga	p.G1184R	CHL1_ENST00000397491.2_Missense_Mutation_p.G1168R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.G1184R(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTCGAATACGGAGAGGGAGA	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18300	0.0		0.0	False		,,,				2504	0.0				p.G1184R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3550A	3						.						126.0	119.0	121.0					3																	447269		2203	4300	6503	422269	SO:0001583	missense	10752	exon28			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3550G>A	3.37:g.447269G>A	ENSP00000256509:p.Gly1184Arg		422269	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.9	4.467756	0.84533	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	D;D	0.91843	-2.92;-2.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.96612	0.9453	10	0.87932	D	0	.	19.8638	0.96797	0.0:0.0:1.0:0.0	.	1168;1184	O00533;O00533-2	CHL1_HUMAN;.	R	1184;1168	ENSP00000256509:G1184R;ENSP00000380628:G1168R	ENSP00000256509:G1184R	G	+	1	0	CHL1	422269	1.000000	0.71417	0.657000	0.29651	0.447000	0.32167	7.014000	0.76380	2.685000	0.91497	0.655000	0.94253	GGA		0.458	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
TRNT1	51095	broad.mit.edu	37	3	3189646	3189646	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:3189646G>A	ENST00000251607.6	+	8	1215	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	TRNT1_ENST00000280591.6_Silent_p.E351E	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	371					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)	p.E371E(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ACCAAGGAGAGCACTGTCTCC	0.423																																					p.E371E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1113A	3						.						118.0	110.0	113.0					3																	3189646		2203	4300	6503	3164646	SO:0001819	synonymous_variant	51095	exon8			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.1113G>A	3.37:g.3189646G>A			3164646	NM_182916	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	CCDS2561.2																																																																																				0.423	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1		
SETD5	55209	broad.mit.edu	37	3	9506330	9506330	+	Missense_Mutation	SNP	C	C	T	rs113593115		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:9506330C>T	ENST00000406341.1	+	17	2888	c.2698C>T	c.(2698-2700)Cgc>Tgc	p.R900C	SETD5_ENST00000302463.6_Missense_Mutation_p.R802C|SETD5_ENST00000402466.1_Missense_Mutation_p.R802C|SETD5_ENST00000407969.1_Missense_Mutation_p.R919C|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.R900C			Q9C0A6	SETD5_HUMAN	SET domain containing 5	900								p.R802C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TACTGCTAGTCGCTGCAACAC	0.453																																					p.R900C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2698T	3						.						132.0	129.0	130.0					3																	9506330		1986	4176	6162	9481330	SO:0001583	missense	55209	exon18			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2698C>T	3.37:g.9506330C>T	ENSP00000383939:p.Arg900Cys		9481330	NM_001080517	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.927499|4.927499	0.92389|0.92389	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|T	0.92699|0.48522	-2.77;-3.09;-2.77;-2.77;-3.09|0.81	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.109676|.	0.64402|.	D|.	0.000006|.	T|T	0.50667|0.50667	0.1629|0.1629	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.988|.	D;D;D;P|.	0.91635|.	0.999;0.997;0.99;0.8|.	T|T	0.49504|0.49504	-0.8933|-0.8933	10|7	0.72032|0.52906	D|T	0.01|0.07	-10.0605|-10.0605	19.9991|19.9991	0.97403|0.97403	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	569;802;900;919|.	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;SETD5_HUMAN;.|.	C|L	900;802;900;919;802|567;211	ENSP00000385852:R900C;ENSP00000384429:R802C;ENSP00000383939:R900C;ENSP00000384114:R919C;ENSP00000302028:R802C|ENSP00000382593:S567L	ENSP00000302028:R802C|ENSP00000382593:S567L	R|S	+|+	1|2	0|0	SETD5|SETD5	9481330|9481330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.155000|6.155000	0.71833|0.71833	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.453	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
UBE2E1	7324	broad.mit.edu	37	3	23848829	23848829	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:23848829G>T	ENST00000306627.3	+	2	288	c.69G>T	c.(67-69)gaG>gaT	p.E23D	UBE2E1-AS1_ENST00000426702.1_RNA|UBE2E1_ENST00000346855.3_Missense_Mutation_p.E23D	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.E23D(1)		breast(1)|endometrium(2)|large_intestine(4)	7						AGCAAACCGAGAAAGAAACAA	0.532																																					p.E23D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G69T	3						.						111.0	113.0	112.0					3																	23848829		2203	4300	6503	23823833	SO:0001583	missense	7324	exon2			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.69G>T	3.37:g.23848829G>T	ENSP00000303709:p.Glu23Asp		23823833	NM_182666	B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	ENST00000306627.3	37	CCDS2638.1	.	.	.	.	.	.	.	.	.	.	G	9.243	1.038750	0.19669	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000442670	T;T;T	0.58060	0.36;1.45;0.36	4.49	3.6	0.41247	Ubiquitin-conjugating enzyme/RWD-like (1);	0.344099	0.24280	N	0.039918	T	0.34106	0.0886	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07597	-1.0764	10	0.25751	T	0.34	.	14.5165	0.67824	0.0:0.0:0.8517:0.1483	.	23;23	C9J2P0;P51965	.;UB2E1_HUMAN	D	23	ENSP00000303709:E23D;ENSP00000329113:E23D;ENSP00000410652:E23D	ENSP00000303709:E23D	E	+	3	2	UBE2E1	23823833	1.000000	0.71417	0.982000	0.44146	0.108000	0.19459	3.804000	0.55568	1.173000	0.42796	0.561000	0.74099	GAG		0.532	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	NM_003341	
TOP2B	7155	broad.mit.edu	37	3	25666191	25666191	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:25666191C>T	ENST00000264331.4	-	19	2327	c.2328G>A	c.(2326-2328)tcG>tcA	p.S776S	TOP2B_ENST00000435706.2_Silent_p.S771S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	776					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.S771S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GATGATAAGCCGACATCTCAG	0.363																																					p.S771S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2313A	3						.						69.0	69.0	69.0					3																	25666191		1875	4117	5992	25641195	SO:0001819	synonymous_variant	7155	exon19			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2328G>A	3.37:g.25666191C>T			25641195	NM_001068	Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37																																																																																					0.363	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
OXSM	54995	broad.mit.edu	37	3	25833478	25833478	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:25833478G>T	ENST00000280701.3	+	2	1066	c.967G>T	c.(967-969)Ggt>Tgt	p.G323C	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.G240C	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	323					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.G323C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAGGAGAAGGTGCCTTAAG	0.433																																					p.G323C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G967T	3						.						73.0	77.0	76.0					3																	25833478		2203	4300	6503	25808482	SO:0001583	missense	54995	exon2			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.967G>T	3.37:g.25833478G>T	ENSP00000280701:p.Gly323Cys		25808482	NM_017897		Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359880	0.82353	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	6.05	6.05	0.98169	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.096296	0.64402	D	0.000001	D	0.90776	0.7104	H	0.97291	3.975	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92959	0.6387	9	0.87932	D	0	-22.4415	20.6013	0.99457	0.0:0.0:1.0:0.0	.	240;323	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	C	323;240	.	ENSP00000280701:G323C	G	+	1	0	OXSM	25808482	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.827000	0.99397	2.878000	0.98634	0.650000	0.86243	GGT		0.433	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
CLASP2	23122	broad.mit.edu	37	3	33686263	33686263	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:33686263C>T	ENST00000468888.2	-	8	894	c.848G>A	c.(847-849)gGc>gAc	p.G283D	CLASP2_ENST00000480013.1_Missense_Mutation_p.G50D|CLASP2_ENST00000461133.3_Missense_Mutation_p.G50D|CLASP2_ENST00000487200.1_Missense_Mutation_p.G56D|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000313350.6_Missense_Mutation_p.G56D|CLASP2_ENST00000359576.5_Missense_Mutation_p.G283D|CLASP2_ENST00000333778.6_Missense_Mutation_p.G60D|CLASP2_ENST00000399362.4_Missense_Mutation_p.G283D|CLASP2_ENST00000539981.1_Missense_Mutation_p.G56D|CLASP2_ENST00000482896.1_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	50					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.G283D(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AACCTTAGGGCCACCTGCTGA	0.468																																					p.G283D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G848A	3						.						91.0	87.0	88.0					3																	33686263		1967	4147	6114	33661267	SO:0001583	missense	23122	exon8			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.848G>A	3.37:g.33686263C>T	ENSP00000419974:p.Gly283Asp		33661267	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	C	11.04	1.521361	0.27211	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778;ENST00000485378;ENST00000496954	T;T;T	0.18502	2.21;2.21;2.21	6.06	6.06	0.98353	.	0.052357	0.85682	D	0.000000	T	0.31513	0.0799	L	0.39898	1.24	0.80722	D	1	P;P;B;D	0.61080	0.69;0.57;0.05;0.989	P;B;B;P	0.58928	0.536;0.317;0.037;0.848	T	0.00117	-1.2035	10	0.48119	T	0.1	-15.8967	18.8203	0.92094	0.0:1.0:0.0:0.0	.	60;56;56;283	E7ENG2;B3KR06;O75122-2;F5H604	.;.;.;.	D	283;283;283;56;50;50;56;56;60;56;50	ENSP00000419974:G283D;ENSP00000382297:G283D;ENSP00000352581:G283D	ENSP00000324364:G56D	G	-	2	0	CLASP2	33661267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.233000	0.58651	2.880000	0.98712	0.650000	0.86243	GGC		0.468	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
PDCD6IP	10015	broad.mit.edu	37	3	33907951	33907951	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:33907951G>A	ENST00000307296.3	+	18	2918	c.2541G>A	c.(2539-2541)ccG>ccA	p.P847P	PDCD6IP_ENST00000457054.2_Silent_p.P852P			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	847	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.P847P(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CTCCATACCCGGGACCCCAGC	0.517																																					p.P852P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2556A	3						.						84.0	83.0	84.0					3																	33907951		2203	4300	6503	33882955	SO:0001819	synonymous_variant	10015	exon18			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2541G>A	3.37:g.33907951G>A			33882955	NM_001162429	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	37	CCDS2660.1																																																																																				0.517	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
CTDSPL	10217	broad.mit.edu	37	3	38022271	38022271	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:38022271G>A	ENST00000273179.5	+	8	770	c.744G>A	c.(742-744)acG>acA	p.T248T	CTDSPL_ENST00000443503.2_Silent_p.T237T|CTDSPL_ENST00000310189.3_3'UTR	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	248	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.T248T(1)		breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGACGGACACGGAGCTGCTGG	0.607																																					p.T237T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G711A	3						.						147.0	103.0	118.0					3																	38022271		2203	4300	6503	37997275	SO:0001819	synonymous_variant	10217	exon7			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.744G>A	3.37:g.38022271G>A			37997275	NM_005808	Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	G	9.217	1.032301	0.19590	.	.	ENSG00000144677	ENST00000436654	.	.	.	5.33	-0.778	0.10977	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-5.4978	6.1121	0.20106	0.6295:0.1544:0.2161:0.0	.	.	.	.	Q	54	.	.	R	+	2	0	CTDSPL	37997275	0.922000	0.31269	1.000000	0.80357	0.995000	0.86356	0.124000	0.15728	0.137000	0.18759	-0.345000	0.07892	CGG		0.607	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808	
ACAA1	30	broad.mit.edu	37	3	38173094	38173094	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:38173094C>T	ENST00000333167.8	-	5	611	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.A147T|ACAA1_ENST00000544624.1_Intron|ACAA1_ENST00000444607.2_Intron|ACAA1_ENST00000450296.1_Intron	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	147					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.A147T(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TACCCACAGGCCATGCCAATG	0.423											OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A147T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	3						.						93.0	99.0	97.0					3																	38173094		2203	4300	6503	38148098	SO:0001583	missense	30	exon5			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.439G>A	3.37:g.38173094C>T	ENSP00000333664:p.Ala147Thr	876	38148098	NM_001130410	G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.221611|5.221611	0.95139|0.95139	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000358122|ENST00000452171;ENST00000421218	D;D|.	0.93763|.	-3.28;-3.28|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.103761|.	0.64402|.	D|.	0.000003|.	D|.	0.84442|.	0.5473|.	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.983;0.999;0.986|.	D;P;D|.	0.69142|.	0.912;0.888;0.962|.	D|.	0.86816|.	0.2001|.	10|.	0.66056|.	D|.	0.02|.	-24.7368|-24.7368	17.3297|17.3297	0.87258|0.87258	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	79;147;147|.	F5GXL8;G5E935;P09110|.	.;.;THIK_HUMAN|.	T|X	147;147;79|19;69	ENSP00000333664:A147T;ENSP00000301810:A147T|.	ENSP00000301810:A147T|.	A|W	-|-	1|3	0|0	ACAA1|ACAA1	38148098|38148098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.534000|6.534000	0.73833|0.73833	2.753000|2.753000	0.94483|0.94483	0.650000|0.650000	0.86243|0.86243	GCC|TGG		0.423	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
MYD88	4615	broad.mit.edu	37	3	38182000	38182000	+	Missense_Mutation	SNP	C	C	G	rs147683404		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:38182000C>G	ENST00000396334.3	+	3	808	c.624C>G	c.(622-624)gaC>gaG	p.D208E	MYD88_ENST00000417037.2_Missense_Mutation_p.D208E|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000443433.2_Intron|MYD88_ENST00000424893.1_Missense_Mutation_p.D163E|MYD88_ENST00000481122.1_3'UTR	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	195	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.D208E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGTGTCTGACCGCGATGTCC	0.532			Mis		ABC-DLBCL																																p.D163E			Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C489G	3						.	C	GLU/ASP,GLU/ASP,GLU/ASP,,	2,4404	4.2+/-10.8	0,2,2201	170.0	146.0	154.0		624,489,624,,	1.7	1.0	3	dbSNP_134	154	0,8600		0,0,4300	no	missense,missense,missense,intron,intron	MYD88	NM_001172567.1,NM_001172568.1,NM_002468.4,NM_001172566.1,NM_001172569.1	45,45,45,,	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,,	208/318,163/265,208/310,,	38182000	2,13004	2203	4300	6503	38157004	SO:0001583	missense	4615	exon2			U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"""myeloid differentiation primary response gene (88)"""			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.624C>G	3.37:g.38182000C>G	ENSP00000379625:p.Asp208Glu		38157004	NM_001172568	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000396334.3	37	CCDS2674.2	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429263	0.62844	4.54E-4	0.0	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.61	1.68	0.24146	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	M	0.65320	2	0.58432	D	0.99999	P;P;P	0.45594	0.862;0.529;0.81	P;P;P	0.56398	0.695;0.603;0.797	T	0.00507	-1.1699	10	0.52906	T	0.07	-32.7862	9.5685	0.39414	0.0:0.6028:0.0:0.3972	.	150;195;184	Q99836-2;Q99836;B4E3D6	.;MYD88_HUMAN;.	E	208;208;163;207;184	ENSP00000401399:D208E;ENSP00000379625:D208E;ENSP00000389979:D163E;ENSP00000391753:D207E	ENSP00000379625:D208E	D	+	3	2	MYD88	38157004	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	1.034000	0.30204	0.384000	0.24942	0.655000	0.94253	GAC		0.532	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468	
SLC22A13	9390	broad.mit.edu	37	3	38318890	38318890	+	Missense_Mutation	SNP	G	G	T	rs138534114		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:38318890G>T	ENST00000311856.4	+	10	1639	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	530					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.K530N(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CCTCAGAGAAGGAAACAGAGG	0.562																																					p.K530N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1590T	3						.						119.0	125.0	123.0					3																	38318890		2203	4300	6503	38293894	SO:0001583	missense	9390	exon10			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1590G>T	3.37:g.38318890G>T	ENSP00000310241:p.Lys530Asn		38293894	NM_004256	B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729309	0.15507	.	.	ENSG00000172940	ENST00000311856	T	0.65732	-0.17	3.12	-0.295	0.12828	.	1.790060	0.03325	N	0.192467	T	0.40862	0.1134	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11060	-1.0603	10	0.23891	T	0.37	.	2.6073	0.04881	0.1839:0.0:0.3278:0.4883	.	530	Q9Y226	S22AD_HUMAN	N	530	ENSP00000310241:K530N	ENSP00000310241:K530N	K	+	3	2	SLC22A13	38293894	0.018000	0.18449	0.001000	0.08648	0.027000	0.11550	-0.006000	0.12833	-0.069000	0.12931	0.655000	0.94253	AAG		0.562	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256	
SLC22A14	9389	broad.mit.edu	37	3	38354509	38354509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:38354509C>T	ENST00000273173.4	+	5	1055	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R322W	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	322					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.R322W(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGAGTCCCCGCGGTGGCTGAT	0.587																																					p.R322W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C964T	3						.						46.0	47.0	47.0					3																	38354509		2201	4295	6496	38329513	SO:0001583	missense	9389	exon5			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.964C>T	3.37:g.38354509C>T	ENSP00000273173:p.Arg322Trp		38329513	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204126	0.58234	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.79653	-1.29;-1.29	4.14	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90783	0.7106	M	0.90542	3.125	0.37625	D	0.921469	D	0.89917	1.0	D	0.97110	1.0	D	0.93836	0.7132	10	0.87932	D	0	.	13.9454	0.64082	0.0:1.0:0.0:0.0	.	322	Q9Y267	S22AE_HUMAN	W	322	ENSP00000396283:R322W;ENSP00000273173:R322W	ENSP00000273173:R322W	R	+	1	2	SLC22A14	38329513	0.010000	0.17322	0.520000	0.27837	0.023000	0.10783	0.073000	0.14640	2.211000	0.71520	0.591000	0.81541	CGG		0.587	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
GORASP1	64689	broad.mit.edu	37	3	39144334	39144334	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:39144334G>T	ENST00000319283.3	-	3	1004	c.183C>A	c.(181-183)gcC>gcA	p.A61A	GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Intron	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	61	PDZ.				Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.A61A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCTCCACATTGGCTTTCAGTA	0.592																																					p.A61A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183A	3						.						187.0	179.0	182.0					3																	39144334		2203	4300	6503	39119338	SO:0001819	synonymous_variant	64689	exon3			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.183C>A	3.37:g.39144334G>T			39119338	NM_031899	B3KWC8|Q3SYG7|Q8N272|Q96H42	Silent	SNP	ENST00000319283.3	37	CCDS2681.1																																																																																				0.592	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1		
ACKR2	1238	broad.mit.edu	37	3	42906872	42906872	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:42906872C>T	ENST00000422265.1	+	3	1053	c.878C>T	c.(877-879)gCa>gTa	p.A293V	ACKR2_ENST00000273145.2_Missense_Mutation_p.A293V|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.A293V	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	293					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.A293V(1)									CTAGACTACGCACTCCAGGTA	0.522																																					p.A293V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C878T	3						.						259.0	202.0	221.0					3																	42906872		2203	4300	6503	42881876	SO:0001583	missense	1238	exon3			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.878C>T	3.37:g.42906872C>T	ENSP00000416996:p.Ala293Val		42881876	NM_001296	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428807	0.43122	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.37058	1.22;1.22;1.22	5.02	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.287779	0.23960	N	0.042871	T	0.51822	0.1697	L	0.58354	1.805	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	T	0.48681	-0.9014	9	.	.	.	.	12.518	0.56044	0.0:0.9166:0.0:0.0834	.	293	O00590	CCBP2_HUMAN	V	293	ENSP00000396150:A293V;ENSP00000416996:A293V;ENSP00000273145:A293V	.	A	+	2	0	CCBP2	42881876	0.989000	0.36119	0.646000	0.29493	0.024000	0.10985	3.035000	0.49759	1.086000	0.41228	0.563000	0.77884	GCA		0.522	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296	
SNRK	54861	broad.mit.edu	37	3	43373697	43373697	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:43373697T>C	ENST00000296088.7	+	4	930	c.626T>C	c.(625-627)gTg>gCg	p.V209A	SNRK_ENST00000437827.1_Missense_Mutation_p.V3A|SNRK_ENST00000454177.1_Missense_Mutation_p.V209A|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000429705.2_Missense_Mutation_p.V209A	NM_017719.4	NP_060189.3			SNF related kinase									p.V209A(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTCATGTTGGTGTGTGGGCAG	0.373																																					p.V209A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T626C	3						.						126.0	117.0	120.0					3																	43373697		1885	4103	5988	43348701	SO:0001583	missense	54861	exon4			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.626T>C	3.37:g.43373697T>C	ENSP00000296088:p.Val209Ala		43348701	NM_017719		Missense_Mutation	SNP	ENST00000296088.7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	T	32	5.187540	0.94923	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	D;D;D;T	0.82711	-1.64;-1.64;-1.64;-0.76	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057606	0.64402	D	0.000002	D	0.87156	0.6107	L	0.48935	1.535	0.80722	D	1	B;P	0.46395	0.064;0.877	B;P	0.58577	0.129;0.841	D	0.88366	0.2991	10	0.87932	D	0	.	15.8513	0.78934	0.0:0.0:0.0:1.0	.	209;209	Q9NRH2-2;Q9NRH2	.;SNRK_HUMAN	A	209;209;209;3	ENSP00000401246:V209A;ENSP00000411375:V209A;ENSP00000296088:V209A;ENSP00000409516:V3A	ENSP00000296088:V209A	V	+	2	0	SNRK	43348701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.152000	0.67230	0.533000	0.62120	GTG		0.373	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	
SNRK	54861	broad.mit.edu	37	3	43389956	43389956	+	Silent	SNP	G	G	A	rs375201000		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:43389956G>A	ENST00000296088.7	+	7	2509	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	SNRK_ENST00000437827.1_Silent_p.L529L|SNRK_ENST00000454177.1_Silent_p.L735L|SNRK_ENST00000429705.2_Silent_p.L735L|RP11-188P20.3_ENST00000607513.1_RNA|SNRK-AS1_ENST00000422681.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase									p.L735L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGCTACCTCTGTGCGAAAAGA	0.517																																					p.L735L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2205A	3						.	G	,	1,4107		0,1,2053	88.0	88.0	88.0		2205,2205	4.2	1.0	3		88	2,8424		0,2,4211	no	coding-synonymous,coding-synonymous	SNRK	NM_001100594.1,NM_017719.4	,	0,3,6264	AA,AG,GG		0.0237,0.0243,0.0239	,	735/766,735/766	43389956	3,12531	2054	4213	6267	43364960	SO:0001819	synonymous_variant	54861	exon7			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.2205G>A	3.37:g.43389956G>A			43364960	NM_017719		Silent	SNP	ENST00000296088.7	37	CCDS43075.1																																																																																				0.517	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	
TOPAZ1	375337	broad.mit.edu	37	3	44285011	44285011	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:44285011delA	ENST00000309765.4	+	2	1181	c.1013delA	c.(1012-1014)gaafs	p.E338fs		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	338						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.A340fs*8(2)									AAGTTGTCTGAAAAAGCAGAT	0.368																																					p.E338fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1013delA	3						.						32.0	27.0	28.0					3																	44285011		692	1591	2283	44260015	SO:0001589	frameshift_variant	375337	exon2			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.1013delA	3.37:g.44285011delA	ENSP00000310303:p.Glu338fs		44260015	NM_001145030		Frame_Shift_Del	DEL	ENST00000309765.4	37	CCDS46809.1																																																																																				0.368	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343247.1	NM_001145030	
ZNF445	353274	broad.mit.edu	37	3	44490141	44490141	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:44490141G>A	ENST00000396077.2	-	8	1369	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L	ZNF445_ENST00000425708.2_Missense_Mutation_p.P341L	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	341					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P341L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACTTGTCGCAGGACATCCTGA	0.408																																					p.P341L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1022T	3						.						73.0	74.0	73.0					3																	44490141		2203	4300	6503	44465145	SO:0001583	missense	353274	exon8			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1022C>T	3.37:g.44490141G>A	ENSP00000379387:p.Pro341Leu		44465145	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937217	0.34189	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674	T;T	0.05258	3.47;3.47	3.81	-1.93	0.07594	.	1.355310	0.04724	N	0.419873	T	0.02047	0.0064	N	0.01705	-0.755	0.09310	N	1	B;B	0.26935	0.164;0.08	B;B	0.22601	0.04;0.027	T	0.39440	-0.9614	10	0.02654	T	1	.	6.8781	0.24158	0.0:0.2028:0.3023:0.4949	.	329;341	B7ZKX2;P59923	.;ZN445_HUMAN	L	341;341;334	ENSP00000413073:P341L;ENSP00000379387:P341L	ENSP00000342436:P334L	P	-	2	0	ZNF445	44465145	0.000000	0.05858	0.000000	0.03702	0.861000	0.49209	-0.165000	0.09968	-0.400000	0.07656	0.591000	0.81541	CCT		0.408	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
SETD2	29072	broad.mit.edu	37	3	47162765	47162765	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:47162765C>T	ENST00000409792.3	-	3	3403	c.3361G>A	c.(3361-3363)Gca>Aca	p.A1121T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1121					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.I617fs*33(1)|p.A1121T(1)|p.A618T(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTTTACTTGCTATACTTTCA	0.363			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.A1121T			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	3	Substitution - Missense(2)|Deletion - Frameshift(1)	large_intestine(2)|kidney(1)	c.G3361A	3						.						125.0	131.0	129.0					3																	47162765		2202	4300	6502	47137769	SO:0001583	missense	29072	exon3			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3361G>A	3.37:g.47162765C>T	ENSP00000386759:p.Ala1121Thr		47137769	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725799	0.15439	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88201	-2.35;1.52	5.22	-5.38	0.02673	.	0.876954	0.09745	N	0.761356	T	0.75664	0.3880	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.59161	-0.7506	10	0.42905	T	0.14	.	9.0003	0.36077	0.0939:0.402:0.0:0.5041	.	1121;1121	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	1121;1121;1121;1077	ENSP00000386759:A1121T;ENSP00000416401:A1077T	ENSP00000386759:A1121T	A	-	1	0	SETD2	47137769	0.000000	0.05858	0.006000	0.13384	0.754000	0.42855	-0.787000	0.04618	-1.070000	0.03149	-0.136000	0.14681	GCA		0.363	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
FBXW12	285231	broad.mit.edu	37	3	48436075	48436075	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:48436075G>T	ENST00000296438.5	+	11	1532	c.1346G>T	c.(1345-1347)aGg>aTg	p.R449M	FBXW12_ENST00000415155.1_Missense_Mutation_p.R379M|FBXW12_ENST00000436231.1_Missense_Mutation_p.R292M|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Missense_Mutation_p.R430M	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	449								p.R449M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTAGGGTGAGGAAAGTAAGT	0.373																																					p.R449M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346T	3						.						162.0	150.0	154.0					3																	48436075		2203	4300	6503	48411079	SO:0001583	missense	285231	exon11			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1346G>T	3.37:g.48436075G>T	ENSP00000296438:p.Arg449Met		48411079	NM_207102	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395773	0.25205	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.31247	1.92;1.5;1.5;1.5	3.22	0.445	0.16597	.	0.634572	0.14199	N	0.334819	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.22346	0.068;0.068;0.041;0.041	B;B;B;B	0.12156	0.003;0.007;0.003;0.001	T	0.17440	-1.0369	10	0.56958	D	0.05	-0.5009	6.8148	0.23824	0.0:0.7008:0.1868:0.1124	.	348;430;379;449	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	M	348;449;292;430;379	ENSP00000296438:R449M;ENSP00000413866:R292M;ENSP00000406139:R430M;ENSP00000414683:R379M	ENSP00000296438:R449M	R	+	2	0	FBXW12	48411079	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.323000	0.07997	0.082000	0.17018	-0.891000	0.02926	AGG		0.373	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102	
NCKIPSD	51517	broad.mit.edu	37	3	48719954	48719954	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:48719954A>G	ENST00000294129.2	-	3	432	c.313T>C	c.(313-315)Tca>Cca	p.S105P	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.S105P|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.S105P	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	105					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)	p.S105P(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCTGCGTGACAGGGTCTCT	0.562																																					p.S105P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T313C	3						.						94.0	96.0	95.0					3																	48719954		2203	4300	6503	48694958	SO:0001583	missense	51517	exon3			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.313T>C	3.37:g.48719954A>G	ENSP00000294129:p.Ser105Pro		48694958	NM_016453	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572548	0.65765	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349	T;T;T;T	0.50548	0.74;1.36;1.35;1.35	4.72	4.72	0.59763	.	0.275088	0.30277	U	0.009994	T	0.48114	0.1482	L	0.54323	1.7	0.34662	D	0.722829	D;P;D	0.56968	0.978;0.93;0.958	P;B;P	0.49140	0.601;0.36;0.563	T	0.61695	-0.7010	10	0.38643	T	0.18	.	9.599	0.39591	0.8438:0.0:0.0:0.1562	.	105;105;105	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	P	105;105;105;105;27	ENSP00000342621:S105P;ENSP00000389059:S105P;ENSP00000294129:S105P;ENSP00000409675:S105P	ENSP00000294129:S105P	S	-	1	0	NCKIPSD	48694958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.781000	0.47750	1.756000	0.51951	0.533000	0.62120	TCA		0.562	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	
P4HTM	54681	broad.mit.edu	37	3	49043193	49043193	+	Intron	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:49043193delC	ENST00000383729.4	+	7	1444				P4HTM_ENST00000343546.4_Frame_Shift_Del_p.P415fs|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)	p.L416fs*6(1)|p.L416fs*28(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTGCTCAGTGCCCCCCCTGCC	0.552																																					p.P414fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|ovary(1)	c.1240delC	3						.						78.0	79.0	79.0					3																	49043193		2203	4300	6503	49018197	SO:0001627	intron_variant	54681	exon7				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1074-17C>-	3.37:g.49043193delC			49018197	NM_177938	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Frame_Shift_Del	DEL	ENST00000383729.4	37	CCDS43089.1																																																																																				0.552	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938	
QRICH1	54870	broad.mit.edu	37	3	49114152	49114152	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:49114152T>G	ENST00000395443.2	-	2	771	c.299A>C	c.(298-300)cAg>cCg	p.Q100P	QRICH1_ENST00000424300.1_Missense_Mutation_p.Q100P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q100P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	100	Gln-rich.					nucleus (GO:0005634)		p.Q100P(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)		CTGAACCTGCTGCGGCTGCTG	0.478																																					p.Q100P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A299C	3						.						256.0	266.0	263.0					3																	49114152		2203	4300	6503	49089156	SO:0001583	missense	54870	exon2				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.299A>C	3.37:g.49114152T>G	ENSP00000378830:p.Gln100Pro		49089156	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995239	0.54147	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300;ENST00000437939;ENST00000450685;ENST00000411682	.	.	.	5.37	5.37	0.77165	.	0.192922	0.48767	D	0.000167	T	0.49847	0.1581	N	0.08118	0	0.52099	D	0.999945	P	0.50156	0.932	P	0.58520	0.84	T	0.58086	-0.7698	9	0.48119	T	0.1	-2.6761	15.3761	0.74607	0.0:0.0:0.0:1.0	.	100	Q2TAL8	QRIC1_HUMAN	P	100	.	ENSP00000350094:Q100P	Q	-	2	0	QRICH1	49089156	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.089000	0.71384	2.047000	0.60756	0.459000	0.35465	CAG		0.478	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
QARS	5859	broad.mit.edu	37	3	49137270	49137270	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:49137270A>G	ENST00000306125.6	-	15	1649	c.1312T>C	c.(1312-1314)Tac>Cac	p.Y438H	QARS_ENST00000414533.1_Missense_Mutation_p.Y427H|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	438					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.Y438H(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTGTAGTCGTAGGTGGGATAG	0.622																																					p.Y438H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1312C	3						.						180.0	166.0	171.0					3																	49137270		2203	4300	6503	49112274	SO:0001583	missense	5859	exon15			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1312T>C	3.37:g.49137270A>G	ENSP00000307567:p.Tyr438His		49112274	NM_005051	B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932719	0.73442	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.61392	0.11;0.11	5.17	5.17	0.71159	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91079	0.4898	10	0.87932	D	0	-14.4589	15.0382	0.71767	1.0:0.0:0.0:0.0	.	427;438	B4DWJ2;P47897	.;SYQ_HUMAN	H	438;427	ENSP00000307567:Y438H;ENSP00000390015:Y427H	ENSP00000307567:Y438H	Y	-	1	0	QARS	49112274	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.836000	0.92105	1.948000	0.56530	0.533000	0.62120	TAC		0.622	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	
TCTA	6988	broad.mit.edu	37	3	49450014	49450014	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:49450014G>A	ENST00000273590.3	+	1	376	c.155G>A	c.(154-156)gGc>gAc	p.G52D	RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000454011.2_5'Flank|RHOA_ENST00000418115.1_5'Flank	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	52						integral component of membrane (GO:0016021)		p.G52D(1)		large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTCTCCTGGGCATCCAGCTG	0.647																																					p.G52D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155A	3						.						129.0	137.0	134.0					3																	49450014		2203	4300	6503	49425018	SO:0001583	missense	6988	exon1				CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.155G>A	3.37:g.49450014G>A	ENSP00000273590:p.Gly52Asp		49425018	NM_022171	B2R4I4|Q6I9U4|Q9BSB0	Missense_Mutation	SNP	ENST00000273590.3	37	CCDS2796.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660250	0.88154	.	.	ENSG00000145022	ENST00000273590	.	.	.	4.98	4.98	0.66077	.	0.169758	0.49916	D	0.000126	T	0.46112	0.1376	N	0.19112	0.55	0.38302	D	0.943012	B	0.29162	0.235	B	0.33568	0.166	T	0.54662	-0.8260	9	0.72032	D	0.01	-28.7613	13.6155	0.62105	0.0:0.0:1.0:0.0	.	52	P57738	TCTA_HUMAN	D	52	.	ENSP00000273590:G52D	G	+	2	0	TCTA	49425018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.268000	0.43338	2.590000	0.87494	0.555000	0.69702	GGC		0.647	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171	
DNAH1	25981	broad.mit.edu	37	3	52378587	52378587	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:52378587C>T	ENST00000420323.2	+	9	1629	c.1368C>T	c.(1366-1368)caC>caT	p.H456H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	456	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H456H(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTTTGACCACGTTGTCTCTT	0.562																																					p.H456H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1368T	3						.						130.0	139.0	136.0					3																	52378587		2106	4218	6324	52353627	SO:0001819	synonymous_variant	25981	exon9			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1368C>T	3.37:g.52378587C>T			52353627	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																				0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH1	25981	broad.mit.edu	37	3	52387474	52387474	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:52387474G>A	ENST00000420323.2	+	20	3566	c.3305G>A	c.(3304-3306)cGc>cAc	p.R1102H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1102	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1102H(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGGGCTGCGCAACCCTGGC	0.602																																					p.R1102H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3305A	3						.						55.0	60.0	59.0					3																	52387474		2096	4217	6313	52362514	SO:0001583	missense	25981	exon20			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3305G>A	3.37:g.52387474G>A	ENSP00000401514:p.Arg1102His		52362514	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686338	0.88639	.	.	ENSG00000114841	ENST00000420323	T	0.62498	0.02	5.53	5.53	0.82687	.	0.246266	0.28946	N	0.013622	T	0.81650	0.4867	M	0.88842	2.985	0.41456	D	0.988019	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.986	D	0.84080	0.0384	10	0.52906	T	0.07	.	14.6933	0.69101	0.0716:0.0:0.9284:0.0	.	1102;1102	C9JXH6;Q9P2D7-3	.;.	H	1102	ENSP00000401514:R1102H	ENSP00000401514:R1102H	R	+	2	0	DNAH1	52362514	0.996000	0.38824	0.997000	0.53966	0.982000	0.71751	5.404000	0.66344	2.597000	0.87782	0.655000	0.94253	CGC		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
ITIH3	3699	broad.mit.edu	37	3	52836799	52836799	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:52836799C>A	ENST00000449956.2	+	13	1692	c.1686C>A	c.(1684-1686)acC>acA	p.T562T	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	562					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T562T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				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)		CCTACCTCACCATTGAGCAGC	0.612																																					p.T562T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1686A	3						.						66.0	73.0	71.0					3																	52836799		2101	4259	6360	52811839	SO:0001819	synonymous_variant	3699	exon13				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1686C>A	3.37:g.52836799C>A			52811839	NM_002217	Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	CCDS46845.1																																																																																				0.612	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
PRKCD	5580	broad.mit.edu	37	3	53223095	53223095	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:53223095A>G	ENST00000394729.2	+	16	1904	c.1576A>G	c.(1576-1578)Aca>Gca	p.T526A	PRKCD_ENST00000330452.3_Missense_Mutation_p.T526A	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.T526A(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CCTGAAGTACACATTCTCTGT	0.592																																					p.T526A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1576G	3						.						92.0	97.0	95.0					3																	53223095		2203	4300	6503	53198135	SO:0001583	missense	5580	exon17				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1576A>G	3.37:g.53223095A>G	ENSP00000378217:p.Thr526Ala		53198135	NM_006254	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618790	0.46736	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.27557	1.66;1.66	5.48	-0.0998	0.13623	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.405665	0.27886	N	0.017458	T	0.28267	0.0698	L	0.60957	1.885	0.30052	N	0.811633	B	0.09022	0.002	B	0.09377	0.004	T	0.28681	-1.0036	10	0.62326	D	0.03	.	11.8881	0.52615	0.3114:0.0:0.0:0.6886	.	526	Q05655	KPCD_HUMAN	A	526	ENSP00000378217:T526A;ENSP00000331602:T526A	ENSP00000331602:T526A	T	+	1	0	PRKCD	53198135	1.000000	0.71417	0.711000	0.30485	0.966000	0.64601	1.354000	0.34056	-0.125000	0.11703	-0.438000	0.05819	ACA		0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1		
ERC2	26059	broad.mit.edu	37	3	55922477	55922477	+	Missense_Mutation	SNP	G	G	A	rs138285241	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:55922477G>A	ENST00000288221.6	-	14	2759	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	835						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.A835V(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGCCAAGTGCGCTTCTTTTTC	0.532													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17442	0.0		0.001	False		,,,				2504	0.0				p.A833V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2498T	3						.						191.0	197.0	195.0					3																	55922477		2045	4196	6241	55897517	SO:0001583	missense	26059	exon13			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2504C>T	3.37:g.55922477G>A	ENSP00000288221:p.Ala835Val		55897517	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	13.37|13.37	2.216844|2.216844	0.39201|0.39201	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.46451|.	0.87|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.349677|.	0.30602|.	N|.	0.009276|.	T|T	0.48502|0.48502	0.1503|0.1503	L|L	0.40543|0.40543	1.245|1.245	0.32084|0.32084	N|N	0.592769|0.592769	B|.	0.26775|.	0.159|.	B|.	0.16289|.	0.015|.	T|T	0.54912|0.54912	-0.8222|-0.8222	10|5	0.39692|.	T|.	0.17|.	-12.7139|-12.7139	13.2575|13.2575	0.60087|0.60087	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	835|.	O15083|.	ERC2_HUMAN|.	V|C	835|482	ENSP00000288221:A835V|.	ENSP00000288221:A835V|.	A|R	-|-	2|1	0|0	ERC2|ERC2	55897517|55897517	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.928000|0.928000	0.56348|0.56348	2.757000|2.757000	0.47557|0.47557	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.532	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
FAM107A	11170	broad.mit.edu	37	3	58555562	58555562	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:58555562C>T	ENST00000394481.1	-	3	584	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000447756.2_Missense_Mutation_p.R37Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R9Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R9Q|FAM107A_ENST00000474531.1_Missense_Mutation_p.R40Q	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	9					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)		p.R9Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		AATGTCTGCCCGCTCCCTCTG	0.592																																					p.R9Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G26A	3						.						65.0	69.0	68.0					3																	58555562		2203	4300	6503	58530602	SO:0001583	missense	11170	exon2			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.26G>A	3.37:g.58555562C>T	ENSP00000377991:p.Arg9Gln		58530602	NM_001076778	B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064249	0.36373	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.46063	1.51;1.51;0.88;1.47;1.47;0.92	4.59	3.69	0.42338	.	0.594469	0.15627	N	0.252607	T	0.15046	0.0363	N	0.02011	-0.69	0.25017	N	0.99136	B;B;B;B	0.26120	0.01;0.142;0.052;0.0	B;B;B;B	0.16722	0.001;0.016;0.004;0.0	T	0.07046	-1.0793	10	0.28530	T	0.3	-25.0424	6.1184	0.20139	0.0:0.6723:0.1716:0.1561	.	37;9;40;9	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	Q	9;9;9;40;37;9	ENSP00000354270:R9Q;ENSP00000377991:R9Q;ENSP00000419529:R9Q;ENSP00000419124:R40Q;ENSP00000400858:R37Q;ENSP00000418038:R9Q	ENSP00000354270:R9Q	R	-	2	0	FAM107A	58530602	0.764000	0.28473	0.990000	0.47175	0.966000	0.64601	0.749000	0.26320	2.266000	0.75297	0.655000	0.94253	CGG		0.592	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177	
MAGI1	9223	broad.mit.edu	37	3	65349233	65349233	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:65349233G>A	ENST00000497477.2	-	20	3200	c.3201C>T	c.(3199-3201)ggC>ggT	p.G1067G	MAGI1_ENST00000330909.8_Silent_p.G1162G|MAGI1_ENST00000402939.2_Silent_p.G1134G|MAGI1_ENST00000483466.1_Silent_p.G1163G			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1163					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.G1134G(1)|p.G1163G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GAAGGCTAAAGCCAAATCCCT	0.448																																					p.G1162G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3486T	3						.						118.0	119.0	119.0					3																	65349233		2203	4300	6503	65324273	SO:0001819	synonymous_variant	9223	exon22			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3201C>T	3.37:g.65349233G>A			65324273	NM_015520	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	G	9.403	1.078423	0.20227	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.62	2.85	0.33270	.	.	.	.	.	T	0.55737	0.1939	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49826	-0.8898	4	.	.	.	-27.0492	7.5598	0.27845	0.2027:0.1202:0.6771:0.0	.	.	.	.	V	1043	.	.	A	-	2	0	MAGI1	65324273	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.263000	0.43293	0.860000	0.35481	-0.252000	0.11476	GCT		0.448	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
SHQ1	55164	broad.mit.edu	37	3	72866506	72866506	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:72866506G>A	ENST00000325599.8	-	7	896	c.757C>T	c.(757-759)Cta>Tta	p.L253L	SHQ1_ENST00000463369.1_Silent_p.L225L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	253					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L253L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AATTTTCGTAGCTGATACTTC	0.353																																					p.L253L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C757T	3						.						87.0	83.0	84.0					3																	72866506		2203	4299	6502	72949196	SO:0001819	synonymous_variant	55164	exon7			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.757C>T	3.37:g.72866506G>A			72949196	NM_018130	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	CCDS33788.1																																																																																				0.353	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130	
CNTN3	5067	broad.mit.edu	37	3	74474054	74474054	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:74474054C>T	ENST00000263665.6	-	4	423	c.396G>A	c.(394-396)gtG>gtA	p.V132V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	132	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V132V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACGCACAGACACTGTACTCC	0.388																																					p.V132V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	3						.						81.0	74.0	76.0					3																	74474054		2203	4300	6503	74556744	SO:0001819	synonymous_variant	5067	exon4			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.396G>A	3.37:g.74474054C>T			74556744	NM_020872	B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	CCDS33790.1																																																																																				0.388	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
ROBO1	6091	broad.mit.edu	37	3	78680413	78680413	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:78680413G>A	ENST00000464233.1	-	25	3637	c.3524C>T	c.(3523-3525)cCa>cTa	p.P1175L	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1130L|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1136L|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1075L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1175					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.P1152L(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)		ACCCTGTTTTGGTACCTTGGG	0.473																																					p.P1175L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3524T	3						.						191.0	189.0	190.0					3																	78680413		2080	4201	6281	78763103	SO:0001583	missense	6091	exon25			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.3524C>T	3.37:g.78680413G>A	ENSP00000420321:p.Pro1175Leu		78763103	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.144541|4.144541	0.77888|0.77888	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414|ENST00000472273	D;D;D;D|.	0.85258|.	-1.96;-1.96;-1.96;-1.96|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.100047|.	0.64402|.	D|.	0.000001|.	T|.	0.67258|.	0.2874|.	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B;B|.	0.34290|.	0.447;0.025;0.376;0.242;0.156|.	B;B;B;B;B|.	0.32533|.	0.147;0.028;0.133;0.069;0.096|.	T|.	0.61955|.	-0.6956|.	9|.	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1139;1175;1130;1075;1136|.	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4|.	.;ROBO1_HUMAN;.;.;.|.	L|X	1136;1130;1175;1130;1075;1179|102	ENSP00000406043:P1136L;ENSP00000420321:P1175L;ENSP00000420637:P1130L;ENSP00000417992:P1075L|.	.|.	P|Q	-|-	2|1	0|0	ROBO1|ROBO1	78763103|78763103	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.928000|0.928000	0.56348|0.56348	9.420000|9.420000	0.97426|0.97426	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
GBE1	2632	broad.mit.edu	37	3	81640218	81640218	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:81640218C>T	ENST00000429644.2	-	9	1849	c.1206G>A	c.(1204-1206)acG>acA	p.T402T	GBE1_ENST00000489715.1_Silent_p.T361T	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	402					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.T402T(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CGGGACACAGCGTGTGAACCA	0.398									Glycogen Storage Disease, type IV																												p.T402T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1206A	3						.						109.0	102.0	104.0					3																	81640218		1918	4127	6045	81722908	SO:0001819	synonymous_variant	2632	exon9	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1206G>A	3.37:g.81640218C>T			81722908	NM_000158	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																				0.398	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
C3orf38	285237	broad.mit.edu	37	3	88205211	88205211	+	Missense_Mutation	SNP	G	G	A	rs139365680		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:88205211G>A	ENST00000318887.3	+	3	726	c.416G>A	c.(415-417)cGt>cAt	p.R139H	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	139					apoptotic process (GO:0006915)			p.R137H(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTTGATTTTCGTCGCCTAGGA	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17791	0.0		0.0	False		,,,				2504	0.0				p.R139H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	3						.						67.0	67.0	67.0					3																	88205211		2203	4300	6503	88287901	SO:0001583	missense	285237	exon3			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.416G>A	3.37:g.88205211G>A	ENSP00000322469:p.Arg139His		88287901	NM_173824	B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	CCDS2921.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.146	0.395067	0.11638	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.53	0.115	0.14643	.	0.640485	0.17875	N	0.159061	T	0.23171	0.0560	N	0.16567	0.415	0.18873	N	0.999987	B	0.06786	0.001	B	0.06405	0.002	T	0.20371	-1.0277	9	0.18710	T	0.47	-1.7948	11.0889	0.48104	0.5299:0.0:0.4701:0.0	.	139	Q5JPI3	CC038_HUMAN	H	139	.	ENSP00000322469:R139H	R	+	2	0	C3orf38	88287901	0.000000	0.05858	0.844000	0.33320	0.928000	0.56348	-0.141000	0.10327	0.013000	0.14918	-0.244000	0.11960	CGT		0.343	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824	
NRROS	375387	broad.mit.edu	37	3	196387589	196387589	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr3:196387589C>A	ENST00000328557.4	+	3	1278	c.1075C>A	c.(1075-1077)Ctc>Atc	p.L359I		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	359					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L359I(1)									CCACCTGAACCTCCACCAGAA	0.607																																					p.L359I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075A	3						.						88.0	90.0	90.0					3																	196387589		2203	4300	6503	197871986	SO:0001583	missense	375387	exon3			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1075C>A	3.37:g.196387589C>A	ENSP00000328625:p.Leu359Ile		197871986	NM_198565		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769503	0.69992	.	.	ENSG00000174004	ENST00000328557	T	0.74315	-0.83	6.17	6.17	0.99709	.	0.124874	0.53938	D	0.000043	D	0.85470	0.5704	M	0.62154	1.92	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	D	0.84868	0.0823	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	359	Q86YC3	LRC33_HUMAN	I	359	ENSP00000328625:L359I	ENSP00000328625:L359I	L	+	1	0	LRRC33	197871986	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.245000	0.51407	2.941000	0.99782	0.655000	0.94253	CTC		0.607	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565	
UVSSA	57654	broad.mit.edu	37	4	1343585	1343586	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:1343585_1343586insG	ENST00000389851.4	+	3	819_820	c.372_373insG	c.(373-375)gggfs	p.G125fs	UVSSA_ENST00000507531.1_Frame_Shift_Ins_p.G125fs|UVSSA_ENST00000511216.1_Frame_Shift_Ins_p.G125fs	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	125	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.E126fs*44(1)									ATGAGAAGTTTGGGGAGGCCTA	0.604																																					p.F124fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.372_373insG	4						.																																			1333586	SO:0001589	frameshift_variant	57654	exon3			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.376dupG	4.37:g.1343589_1343589dupG	ENSP00000374501:p.Gly125fs		1333585	NM_020894	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Frame_Shift_Ins	INS	ENST00000389851.4	37	CCDS33938.1																																																																																				0.604	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894	
ETNPPL	64850	broad.mit.edu	37	4	109663682	109663682	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:109663682G>A	ENST00000296486.3	-	13	1612	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	ETNPPL_ENST00000512646.1_Silent_p.C428C|ETNPPL_ENST00000411864.2_Silent_p.C480C|ETNPPL_ENST00000510706.1_Silent_p.C446C	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	486						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.C486C(1)									GTGTATCCGTGCACATTCCAT	0.443																																					p.C428C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284T	4						.						240.0	199.0	213.0					4																	109663682		2203	4300	6503	109883131	SO:0001819	synonymous_variant	64850	exon12			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1458C>T	4.37:g.109663682G>A			109883131	NM_001146627	B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	ENST00000296486.3	37	CCDS3682.1																																																																																				0.443	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	
ETNPPL	64850	broad.mit.edu	37	4	109669166	109669166	+	Missense_Mutation	SNP	A	A	T	rs577459920		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:109669166A>T	ENST00000296486.3	-	9	1231	c.1077T>A	c.(1075-1077)gaT>gaA	p.D359E	ETNPPL_ENST00000512646.1_Missense_Mutation_p.D301E|ETNPPL_ENST00000411864.2_Missense_Mutation_p.D353E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.D319E	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	359						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.D359E(1)									CATACCTAATATCTCCTATCA	0.343																																					p.D301E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T903A	4						.						164.0	161.0	162.0					4																	109669166		2203	4300	6503	109888615	SO:0001583	missense	64850	exon8			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1077T>A	4.37:g.109669166A>T	ENSP00000296486:p.Asp359Glu		109888615	NM_001146627	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.788108	0.49997	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.54	-1.15	0.09709	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.203730	0.50627	D	0.000120	T	0.50650	0.1628	L	0.56199	1.76	0.45490	D	0.998455	P;P;D	0.63880	0.798;0.759;0.993	P;P;D	0.65573	0.71;0.587;0.936	T	0.41963	-0.9479	9	.	.	.	-20.6964	10.4373	0.44443	0.5909:0.0:0.4091:0.0	.	301;353;359	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	E	359;353;301;319	ENSP00000296486:D359E;ENSP00000392269:D353E;ENSP00000427065:D301E;ENSP00000423240:D319E	.	D	-	3	2	AGXT2L1	109888615	0.958000	0.32768	0.013000	0.15412	0.403000	0.30841	0.931000	0.28871	-0.310000	0.08766	0.533000	0.62120	GAT		0.343	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	
COL25A1	84570	broad.mit.edu	37	4	110222977	110222977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:110222977C>T	ENST00000399132.1	-	2	729	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399127.1_Missense_Mutation_p.E67K|COL25A1_ENST00000399126.1_Missense_Mutation_p.E67K	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.E67K(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTGGCGGATTCGAGAGCGGCG	0.597																																					p.E67K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	4						.						102.0	105.0	104.0					4																	110222977		1965	4151	6116	110442426	SO:0001583	missense	84570	exon2			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.199G>A	4.37:g.110222977C>T	ENSP00000382083:p.Glu67Lys		110442426	NM_198721		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157927	0.57368	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653;ENST00000505591	D;T;D	0.93488	-2.99;0.88;-3.23	5.62	4.76	0.60689	.	0.339974	0.21944	N	0.066828	D	0.91918	0.7441	L	0.34521	1.04	0.30226	N	0.796367	D;P;P	0.71674	0.998;0.956;0.458	P;B;B	0.55222	0.771;0.268;0.062	D	0.88459	0.3054	9	.	.	.	-18.0107	10.6318	0.45541	0.1491:0.7071:0.1438:0.0	.	67;67;67	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	K	67	ENSP00000382083:E67K;ENSP00000382078:E67K;ENSP00000382077:E67K	.	E	-	1	0	COL25A1	110442426	1.000000	0.71417	0.892000	0.35008	0.988000	0.76386	3.485000	0.53208	1.452000	0.47756	0.561000	0.74099	GAA		0.597	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
PRSS12	8492	broad.mit.edu	37	4	119252889	119252889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:119252889C>T	ENST00000296498.3	-	4	1235	c.953G>A	c.(952-954)tGc>tAc	p.C318Y		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	318	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C318Y(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTGCCTGCAGATCACTTC	0.478																																					p.C318Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G953A	4						.						77.0	70.0	72.0					4																	119252889		2203	4300	6503	119472337	SO:0001583	missense	8492	exon4			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.953G>A	4.37:g.119252889C>T	ENSP00000296498:p.Cys318Tyr		119472337	NM_003619	Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807405	0.70797	.	.	ENSG00000164099	ENST00000296498	D	0.91237	-2.81	6.04	5.19	0.71726	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	H	0.99939	4.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99194	1.0871	10	0.87932	D	0	.	15.1811	0.72960	0.1409:0.8591:0.0:0.0	.	318	P56730	NETR_HUMAN	Y	318	ENSP00000296498:C318Y	ENSP00000296498:C318Y	C	-	2	0	PRSS12	119472337	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.719000	0.84751	1.556000	0.49512	0.561000	0.74099	TGC		0.478	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2		
SYNPO2	171024	broad.mit.edu	37	4	119978710	119978710	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:119978710C>T	ENST00000307142.4	+	5	3603	c.3407C>T	c.(3406-3408)gCa>gTa	p.A1136V	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.A1136V(1)		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						GAAGCAGCAGCAAAGTCTCCT	0.473																																					p.A1136V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3407T	4						.						112.0	102.0	105.0					4																	119978710		2203	4300	6503	120198158	SO:0001583	missense	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.3407C>T	4.37:g.119978710C>T	ENSP00000306015:p.Ala1136Val		120198158	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730925	0.89390	.	.	ENSG00000172403	ENST00000307142	T	0.11277	2.79	5.76	5.76	0.90799	.	0.000000	0.43110	D	0.000615	T	0.23965	0.0580	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.976;0.993	T	0.00893	-1.1524	9	.	.	.	-16.476	19.9576	0.97228	0.0:1.0:0.0:0.0	.	1136;1136	B9EG60;Q9UMS6-2	.;.	V	1136	ENSP00000306015:A1136V	.	A	+	2	0	SYNPO2	120198158	1.000000	0.71417	0.628000	0.29241	0.656000	0.38851	6.390000	0.73204	2.736000	0.93811	0.655000	0.94253	GCA		0.473	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1		
PRDM5	11107	broad.mit.edu	37	4	121675788	121675788	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:121675788G>A	ENST00000264808.3	-	14	1783	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	PRDM5_ENST00000428209.2_Missense_Mutation_p.R484C|PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	515					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R515C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGATAGGGACGCTCACCTACA	0.433																																					p.R515C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1543T	4						.						89.0	80.0	83.0					4																	121675788		2203	4300	6503	121895238	SO:0001583	missense	11107	exon14			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1543C>T	4.37:g.121675788G>A	ENSP00000264808:p.Arg515Cys		121895238	NM_018699	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489748	0.84962	.	.	ENSG00000138738	ENST00000264808;ENST00000428209	T;T	0.20463	2.07;2.07	5.72	5.72	0.89469	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.905;0.998	T	0.60840	-0.7183	10	0.87932	D	0	-12.9578	18.6424	0.91399	0.0:0.0:1.0:0.0	.	484;515	Q9NQX1-2;Q9NQX1	.;PRDM5_HUMAN	C	515;484	ENSP00000264808:R515C;ENSP00000404832:R484C	ENSP00000264808:R515C	R	-	1	0	PRDM5	121895238	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.501000	0.90501	2.698000	0.92095	0.591000	0.81541	CGT		0.433	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2		
BBS7	55212	broad.mit.edu	37	4	122749775	122749775	+	Splice_Site	SNP	G	G	A	rs551176983		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:122749775G>A	ENST00000264499.4	-	16	1968	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y	BBS7_ENST00000506636.1_Splice_Site_p.Y595Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	595					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.Y595Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTGTTTACCGTATGATATGT	0.289									Bardet-Biedl syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		15171	0.0		0.0	False		,,,				2504	0.001				p.Y595Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1785T	4						.						91.0	95.0	94.0					4																	122749775		2199	4299	6498	122969225	SO:0001630	splice_region_variant	55212	exon16	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1786+1C>T	4.37:g.122749775G>A			122969225	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	CCDS3724.1																																																																																				0.289	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		Silent
KIAA1109	84162	broad.mit.edu	37	4	123128319	123128319	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:123128319C>T	ENST00000264501.4	+	16	1926	c.1553C>T	c.(1552-1554)cCa>cTa	p.P518L	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P518L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P518L			Q2LD37	K1109_HUMAN	KIAA1109	518					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.P518L(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						TCATTTGTTCCATATACGTGG	0.318																																					p.P518L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1553T	4						.						122.0	115.0	117.0					4																	123128319		1806	4078	5884	123347769	SO:0001583	missense	84162	exon14			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.1553C>T	4.37:g.123128319C>T	ENSP00000264501:p.Pro518Leu		123347769	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057220	0.93846	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.56444	1.04;1.04;0.46	5.67	5.67	0.87782	.	1.196880	0.06550	U	0.744787	T	0.78679	0.4321	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70110	-0.4962	10	0.72032	D	0.01	.	19.7657	0.96340	0.0:1.0:0.0:0.0	.	518	Q2LD37	K1109_HUMAN	L	518	ENSP00000264501:P518L;ENSP00000373390:P518L;ENSP00000389925:P518L	ENSP00000264501:P518L	P	+	2	0	KIAA1109	123347769	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.424000	0.80242	2.649000	0.89929	0.655000	0.94253	CCA		0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ANKRD50	57182	broad.mit.edu	37	4	125593423	125593423	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:125593423G>A	ENST00000504087.1	-	4	2046	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	ANKRD50_ENST00000515641.1_Silent_p.L158L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	337								p.L337L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTTGGCACAGCCAGAGATAT	0.358																																					p.L158L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C472T	4						.						64.0	68.0	66.0					4																	125593423		2203	4299	6502	125812873	SO:0001819	synonymous_variant	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1009C>T	4.37:g.125593423G>A			125812873	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																				0.358	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126328143	126328143	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:126328143C>T	ENST00000394329.3	+	3	5429	c.5416C>T	c.(5416-5418)Cgc>Tgc	p.R1806C	FAT4_ENST00000335110.5_Missense_Mutation_p.R104C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1806	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.R1806C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGGAACGCCGCTCCAA	0.468																																					p.R1806C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5416T	4						.						148.0	137.0	141.0					4																	126328143		2203	4300	6503	126547593	SO:0001583	missense	79633	exon3			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.5416C>T	4.37:g.126328143C>T	ENSP00000377862:p.Arg1806Cys		126547593	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359459	0.61403	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.218554	0.22344	U	0.061281	T	0.10208	0.0250	M	0.75447	2.3	0.58432	D	0.999995	D;D	0.76494	0.998;0.999	D;P	0.63033	0.91;0.888	T	0.00505	-1.1700	10	0.59425	D	0.04	.	19.484	0.95022	0.0:1.0:0.0:0.0	.	104;1806	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	C	1806;104	ENSP00000377862:R1806C;ENSP00000335169:R104C	ENSP00000335169:R104C	R	+	1	0	FAT4	126547593	1.000000	0.71417	0.934000	0.37439	0.582000	0.36321	2.775000	0.47702	2.669000	0.90835	0.650000	0.86243	CGC		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PCDH10	57575	broad.mit.edu	37	4	134072527	134072527	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:134072527A>G	ENST00000264360.5	+	1	2058	c.1232A>G	c.(1231-1233)aAt>aGt	p.N411S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	411	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.N411S(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)		TCCTTTAAGAATTACTACACC	0.612																																					p.N411S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1232G	4						.						152.0	161.0	158.0					4																	134072527		2203	4300	6503	134291977	SO:0001583	missense	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.1232A>G	4.37:g.134072527A>G	ENSP00000264360:p.Asn411Ser		134291977	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508819	0.64410	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01629	4.72	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000174	T	0.08044	0.0201	L	0.57130	1.785	0.58432	D	0.999998	D;D	0.76494	0.999;0.989	D;P	0.81914	0.995;0.897	T	0.04029	-1.0983	10	0.72032	D	0.01	.	13.979	0.64291	1.0:0.0:0.0:0.0	.	411;411	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	411	ENSP00000264360:N411S	ENSP00000264360:N411S	N	+	2	0	PCDH10	134291977	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.328000	0.79160	1.963000	0.57068	0.459000	0.35465	AAT		0.612	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH10	57575	broad.mit.edu	37	4	134072937	134072937	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:134072937G>A	ENST00000264360.5	+	1	2468	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	548	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.A548T(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)		AGCCCGGGACGCTGGCAGCCC	0.577																																					p.A548T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1642A	4						.						50.0	56.0	54.0					4																	134072937		2060	4075	6135	134292387	SO:0001583	missense	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.1642G>A	4.37:g.134072937G>A	ENSP00000264360:p.Ala548Thr		134292387	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687303	0.88639	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52754	0.65	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.000000	0.42964	D	0.000632	T	0.47563	0.1452	L	0.52905	1.665	0.36022	D	0.838784	P;P	0.50443	0.935;0.615	B;B	0.43386	0.266;0.418	T	0.63373	-0.6652	10	0.54805	T	0.06	.	16.1677	0.81782	0.0:0.0:1.0:0.0	.	548;548	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	548	ENSP00000264360:A548T	ENSP00000264360:A548T	A	+	1	0	PCDH10	134292387	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.808000	0.38912	2.329000	0.79093	0.655000	0.94253	GCT		0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
CLGN	1047	broad.mit.edu	37	4	141317307	141317307	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:141317307C>A	ENST00000325617.5	-	9	1377	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C	CLGN_ENST00000414773.1_Missense_Mutation_p.G313C|CLGN_ENST00000537281.1_Missense_Mutation_p.G313C	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	313					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.G313C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCAAGCCAGCCAGCAGGTTTA	0.343																																					p.G313C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G937T	4						.						193.0	186.0	188.0					4																	141317307		2203	4300	6503	141536757	SO:0001583	missense	1047	exon9			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.937G>T	4.37:g.141317307C>A	ENSP00000326699:p.Gly313Cys		141536757	NM_004362	B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	c	29.1	4.973947	0.92919	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.53423	0.62;0.62;0.62	5.83	5.83	0.93111	Calreticulin/calnexin, P (2);	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80591	-0.1314	10	0.87932	D	0	-14.5079	20.143	0.98065	0.0:1.0:0.0:0.0	.	313	O14967	CLGN_HUMAN	C	313;313;313;230	ENSP00000326699:G313C;ENSP00000392782:G313C;ENSP00000439381:G313C	ENSP00000326699:G313C	G	-	1	0	CLGN	141536757	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.773000	0.85462	2.763000	0.94921	0.550000	0.68814	GGC		0.343	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	
TBC1D9	23158	broad.mit.edu	37	4	141590852	141590852	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:141590852G>A	ENST00000442267.2	-	8	1447	c.1373C>T	c.(1372-1374)aCa>aTa	p.T458I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	458							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.T458I(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGTGTGGCTGTGGGGACGCT	0.567																																					p.T458I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1373T	4						.						60.0	67.0	65.0					4																	141590852		2110	4212	6322	141810302	SO:0001583	missense	23158	exon8			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1373C>T	4.37:g.141590852G>A	ENSP00000411197:p.Thr458Ile		141810302	NM_015130	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288890	0.80914	.	.	ENSG00000109436	ENST00000442267	T	0.09255	3.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	M	0.82823	2.61	0.80722	D	1	P	0.34934	0.476	B	0.36719	0.231	T	0.02610	-1.1134	10	0.41790	T	0.15	.	19.3416	0.94344	0.0:0.0:1.0:0.0	.	458	Q6ZT07	TBCD9_HUMAN	I	458	ENSP00000411197:T458I	ENSP00000411197:T458I	T	-	2	0	TBC1D9	141810302	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	9.639000	0.98448	2.631000	0.89168	0.655000	0.94253	ACA		0.567	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
USP38	84640	broad.mit.edu	37	4	144133576	144133576	+	Splice_Site	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:144133576A>G	ENST00000307017.4	+	8	2109	c.1603A>G	c.(1603-1605)Agg>Ggg	p.R535G	USP38_ENST00000510377.1_Splice_Site_p.R535G	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	535	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.R535G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TCTCCTTGACAGGTAAAAAGT	0.343																																					p.R535G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1603G	4						.						75.0	76.0	76.0					4																	144133576		2203	4300	6503	144353026	SO:0001630	splice_region_variant	84640	exon8			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1604+1A>G	4.37:g.144133576A>G			144353026	NM_032557	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345676	0.82022	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.29655	1.56;1.56	5.38	4.18	0.49190	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.28458	0.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.10314	-1.0635	10	0.31617	T	0.26	-8.7094	12.7951	0.57555	0.8631:0.1369:0.0:0.0	.	535;535	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	G	535	ENSP00000427647:R535G;ENSP00000303434:R535G	ENSP00000303434:R535G	R	+	1	2	USP38	144353026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.370000	0.79589	0.970000	0.38263	0.477000	0.44152	AGG		0.343	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	Missense_Mutation
USP38	84640	broad.mit.edu	37	4	144135984	144135984	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:144135984C>T	ENST00000307017.4	+	9	3361	c.2855C>T	c.(2854-2856)aCt>aTt	p.T952I	USP38_ENST00000510377.1_Missense_Mutation_p.T952I	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	952					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.T952I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CAGCATAGTACTAATGGTTTA	0.368																																					p.T952I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2855T	4						.						60.0	63.0	62.0					4																	144135984		2203	4299	6502	144355434	SO:0001583	missense	84640	exon9			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2855C>T	4.37:g.144135984C>T	ENSP00000303434:p.Thr952Ile		144355434	NM_032557	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156258	0.21454	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.08807	3.05;3.05	5.88	5.88	0.94601	.	0.574427	0.19770	N	0.106465	T	0.07413	0.0187	N	0.22421	0.69	0.20196	N	0.999927	B;B	0.22983	0.047;0.078	B;B	0.25140	0.042;0.058	T	0.31392	-0.9945	10	0.32370	T	0.25	-8.2881	13.4212	0.60998	0.0:0.9285:0.0:0.0715	.	952;952	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	I	952	ENSP00000427647:T952I;ENSP00000303434:T952I	ENSP00000303434:T952I	T	+	2	0	USP38	144355434	0.096000	0.21769	0.560000	0.28344	0.640000	0.38277	1.769000	0.38522	2.780000	0.95670	0.655000	0.94253	ACT		0.368	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	
KIAA0922	23240	broad.mit.edu	37	4	154557621	154557621	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:154557621T>C	ENST00000409663.3	+	35	4775	c.4723T>C	c.(4723-4725)Ttc>Ctc	p.F1575L	KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1492L|KIAA0922_ENST00000409959.3_Missense_Mutation_p.F1576L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1575						integral component of membrane (GO:0016021)		p.F1428L(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)				CTACCCGGGGTTCAACCCGTT	0.498																																					p.F1575L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4723C	4						.						98.0	94.0	96.0					4																	154557621		2203	4300	6503	154777071	SO:0001583	missense	23240	exon35			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.4723T>C	4.37:g.154557621T>C	ENSP00000386574:p.Phe1575Leu		154777071	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916545	0.92249	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.46451	1.17;0.87;1.16;0.91	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.99;0.997;0.993	T	0.57376	-0.7822	10	0.72032	D	0.01	-22.0001	16.3721	0.83368	0.0:0.0:0.0:1.0	.	1492;1576;1575	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	L	1575;1492;1576;1353	ENSP00000386574:F1575L;ENSP00000409663:F1492L;ENSP00000386787:F1576L;ENSP00000240487:F1353L	ENSP00000240487:F1353L	F	+	1	0	KIAA0922	154777071	1.000000	0.71417	0.980000	0.43619	0.899000	0.52679	7.407000	0.80029	2.257000	0.74773	0.533000	0.62120	TTC		0.498	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
TLR2	7097	broad.mit.edu	37	4	154625798	154625798	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:154625798T>C	ENST00000260010.6	+	1	3147	c.1739T>C	c.(1738-1740)cTc>cCc	p.L580P		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	580					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.L580P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GATGTCCGCCTCTCGGTGTCG	0.567																																					p.L580P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1739C	4						.						124.0	99.0	108.0					4																	154625798		2203	4300	6503	154845248	SO:0001583	missense	7097	exon3			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1739T>C	4.37:g.154625798T>C	ENSP00000260010:p.Leu580Pro		154845248	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	T	5.215	0.225151	0.09916	.	.	ENSG00000137462	ENST00000260010	T	0.28255	1.62	5.33	4.16	0.48862	Cysteine-rich flanking region, C-terminal (1);	0.073783	0.56097	N	0.000031	T	0.32436	0.0829	M	0.72894	2.215	0.80722	D	1	B	0.13145	0.007	B	0.15484	0.013	T	0.08994	-1.0695	10	0.42905	T	0.14	.	10.2429	0.43324	0.0:0.0788:0.0:0.9212	.	580	O60603	TLR2_HUMAN	P	580	ENSP00000260010:L580P	ENSP00000260010:L580P	L	+	2	0	TLR2	154845248	0.542000	0.26426	0.093000	0.20910	0.029000	0.11900	1.681000	0.37618	0.888000	0.36160	0.533000	0.62120	CTC		0.567	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
DCHS2	54798	broad.mit.edu	37	4	155256153	155256153	+	Silent	SNP	G	G	A	rs374856503		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:155256153G>A	ENST00000357232.4	-	8	1082	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.A860A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	361	Cadherin 2. {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.A361A(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)		TGGTGACATCGGCATTAATGA	0.423																																					p.A860A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2580T	4						.	G	,	2,4404	4.2+/-10.8	0,2,2201	110.0	109.0	109.0		2580,1083	-12.3	0.0	4		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	860/1370,361/2917	155256153	2,13004	2203	4300	6503	155475603	SO:0001819	synonymous_variant	54798	exon4			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.1083C>T	4.37:g.155256153G>A			155475603	NM_001142552	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
NPY2R	4887	broad.mit.edu	37	4	156136049	156136049	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:156136049G>A	ENST00000329476.3	+	2	1447	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A320T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	320					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.A320T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CTCCACTTTTGCCAATCCCCT	0.522																																					p.A320T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958A	4						.						118.0	97.0	104.0					4																	156136049		2203	4300	6503	156355499	SO:0001583	missense	4887	exon2			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.958G>A	4.37:g.156136049G>A	ENSP00000332591:p.Ala320Thr		156355499	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098041	0.37048	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.34072	1.38;1.38	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.164276	0.53938	D	0.000058	T	0.38374	0.1038	L	0.45137	1.4	0.58432	D	0.999991	B	0.31931	0.347	B	0.37144	0.242	T	0.06463	-1.0825	10	0.30854	T	0.27	.	19.1661	0.93559	0.0:0.0:1.0:0.0	.	320	P49146	NPY2R_HUMAN	T	320	ENSP00000332591:A320T;ENSP00000426366:A320T	ENSP00000332591:A320T	A	+	1	0	NPY2R	156355499	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.628000	0.74262	2.770000	0.95276	0.643000	0.83706	GCC		0.522	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	
GUCY1B3	2983	broad.mit.edu	37	4	156710897	156710897	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:156710897C>T	ENST00000264424.8	+	5	411	c.329C>T	c.(328-330)aCc>aTc	p.T110I	GUCY1B3_ENST00000503520.1_Missense_Mutation_p.T110I|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.T42I|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.T132I|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.T42I|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.T42I|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.T90I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	110					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.T110I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACCTTGCTACCATCTACCCA	0.478																																					p.T110I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C329T	4						.						108.0	106.0	107.0					4																	156710897		2031	4176	6207	156930347	SO:0001583	missense	2983	exon5			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.329C>T	4.37:g.156710897C>T	ENSP00000264424:p.Thr110Ile		156930347	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219227	0.95139	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.96	5.96	0.96718	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.098210	0.64402	D	0.000001	T	0.66066	0.2752	M	0.80616	2.505	0.58432	D	0.999999	D;D;B;D;P	0.59357	0.985;0.974;0.03;0.982;0.831	P;P;B;P;P	0.62089	0.801;0.898;0.063;0.793;0.744	T	0.61397	-0.7071	10	0.32370	T	0.25	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	90;132;42;110;110	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	I	42;132;90;42;110;110;42	ENSP00000427226:T42I;ENSP00000426786:T132I;ENSP00000426319:T90I;ENSP00000422313:T42I;ENSP00000264424:T110I;ENSP00000420842:T110I;ENSP00000425065:T42I	ENSP00000264424:T110I	T	+	2	0	GUCY1B3	156930347	1.000000	0.71417	0.794000	0.32065	0.997000	0.91878	7.760000	0.85248	2.831000	0.97527	0.650000	0.86243	ACC		0.478	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
PDGFC	56034	broad.mit.edu	37	4	157732009	157732009	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:157732009G>T	ENST00000502773.1	-	3	965	c.475C>A	c.(475-477)Cac>Aac	p.H159N	PDGFC_ENST00000422544.2_Missense_Mutation_p.H159N|PDGFC_ENST00000542208.1_5'UTR|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	159	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.H159N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATGTTGTAGTGGATGCAGAAC	0.348																																					p.H159N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475A	4						.						91.0	93.0	92.0					4																	157732009		2203	4300	6503	157951459	SO:0001583	missense	56034	exon3			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.475C>A	4.37:g.157732009G>T	ENSP00000422464:p.His159Asn		157951459	NM_016205	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377896	0.82682	.	.	ENSG00000145431	ENST00000502773;ENST00000422544	T;T	0.16196	2.36;2.36	5.18	5.18	0.71444	CUB (5);	0.102493	0.64402	D	0.000002	T	0.18882	0.0453	N	0.17278	0.47	0.80722	D	1	D	0.53312	0.959	P	0.50860	0.652	T	0.03354	-1.1045	10	0.28530	T	0.3	-24.0627	19.0614	0.93095	0.0:0.0:1.0:0.0	.	159	Q9NRA1	PDGFC_HUMAN	N	159	ENSP00000422464:H159N;ENSP00000410048:H159N	ENSP00000410048:H159N	H	-	1	0	PDGFC	157951459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.388000	0.97237	2.581000	0.87130	0.563000	0.77884	CAC		0.348	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1		
FAT1	2195	broad.mit.edu	37	4	187540141	187540141	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:187540141A>G	ENST00000441802.2	-	10	7808	c.7599T>C	c.(7597-7599)aaT>aaC	p.N2533N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2533	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N2533N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGCAAAGTCATTTACAATAT	0.418										HNSCC(5;0.00058)																											p.N2533N	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T7599C	4						.						104.0	97.0	99.0					4																	187540141		1840	4088	5928	187777135	SO:0001819	synonymous_variant	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7599T>C	4.37:g.187540141A>G			187777135	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187628615	187628615	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:187628615G>T	ENST00000441802.2	-	2	2576	c.2367C>A	c.(2365-2367)acC>acA	p.T789T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	789	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T789T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAATATTCAGGGTGTATTTGT	0.433										HNSCC(5;0.00058)																											p.T789T	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2367A	4						.						162.0	164.0	163.0					4																	187628615		1975	4154	6129	187865609	SO:0001819	synonymous_variant	2195	exon2			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2367C>A	4.37:g.187628615G>T			187865609	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
ZNF721	170960	broad.mit.edu	37	4	436934	436934	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:436934C>A	ENST00000338977.5	-	2	1334	c.1286G>T	c.(1285-1287)gGa>gTa	p.G429V	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.G441V			Q8TF20	ZN721_HUMAN	zinc finger protein 721	429					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.G211V(1)|p.G441V(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GGGTTTATCTCCAGTATGAAT	0.373																																					p.G441V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1322T	4						.						52.0	55.0	54.0					4																	436934		2020	4206	6226	426934	SO:0001583	missense	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.1286G>T	4.37:g.436934C>A	ENSP00000340524:p.Gly429Val		426934	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	C	13.63	2.293520	0.40594	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.23552	1.9;1.9	0.71	0.71	0.18157	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48714	0.1515	M	0.85710	2.77	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.973	T	0.51156	-0.8741	9	0.87932	D	0	.	7.2684	0.26242	0.0:0.9999:0.0:1.0E-4	.	429;441;441	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	429;441	ENSP00000340524:G429V;ENSP00000428878:G441V	ENSP00000340524:G429V	G	-	2	0	ZNF721	426934	0.007000	0.16637	0.015000	0.15790	0.050000	0.14768	0.966000	0.29331	0.677000	0.31305	0.194000	0.17425	GGA		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
PIGG	54872	broad.mit.edu	37	4	527699	527699	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:527699G>A	ENST00000453061.2	+	12	2770	c.2664G>A	c.(2662-2664)gcG>gcA	p.A888A	PIGG_ENST00000310340.5_Silent_p.A880A|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.A755A|PIGG_ENST00000504346.1_Silent_p.A799A	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	888					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.A880A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TCCTGACAGCGTTTGGGACGT	0.592																																					p.A880A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2640A	4						.						99.0	85.0	89.0					4																	527699		2203	4300	6503	517699	SO:0001819	synonymous_variant	54872	exon12				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2664G>A	4.37:g.527699G>A			517699	NM_017733	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	CCDS46992.1																																																																																				0.592	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733	
STK32B	55351	broad.mit.edu	37	4	5333028	5333028	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:5333028G>A	ENST00000282908.5	+	4	764	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK32B_ENST00000512636.1_Silent_p.Q67Q|STK32B_ENST00000510398.1_Silent_p.Q67Q	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.Q114Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ATCTGCAGCAGAATGTGCATT	0.542																																					p.Q114Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G342A	4						.						145.0	117.0	127.0					4																	5333028		2203	4300	6503	5383929	SO:0001819	synonymous_variant	55351	exon4			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.342G>A	4.37:g.5333028G>A			5383929	NM_018401		Silent	SNP	ENST00000282908.5	37	CCDS3380.1																																																																																				0.542	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401	
EVC2	132884	broad.mit.edu	37	4	5586479	5586479	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:5586479G>T	ENST00000344408.5	-	17	2981	c.2928C>A	c.(2926-2928)tcC>tcA	p.S976S	EVC2_ENST00000310917.2_Silent_p.S896S|EVC2_ENST00000344938.1_Silent_p.S976S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	976					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S976S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CGGTCACCCGGGACGCCTTCT	0.602																																					p.S896S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2688A	4						.						78.0	78.0	78.0					4																	5586479		2203	4300	6503	5637380	SO:0001819	synonymous_variant	132884	exon17			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2928C>A	4.37:g.5586479G>T			5637380	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
KIAA0232	9778	broad.mit.edu	37	4	6865491	6865491	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:6865491T>C	ENST00000307659.5	+	7	3837	c.3382T>C	c.(3382-3384)Tct>Cct	p.S1128P	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S1128P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1128							ATP binding (GO:0005524)	p.S1128P(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						AGAATTTGAATCTGAGAAAGA	0.443																																					p.S1128P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3382C	4						.						95.0	90.0	91.0					4																	6865491		1864	4095	5959	6916392	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.3382T>C	4.37:g.6865491T>C	ENSP00000303928:p.Ser1128Pro		6916392	NM_014743	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106525	0.77096	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	4.37	4.37	0.52481	.	0.060338	0.64402	D	0.000002	T	0.64046	0.2563	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.71656	0.974	T	0.68557	-0.5377	9	0.87932	D	0	-8.7975	13.6926	0.62556	0.0:0.0:0.0:1.0	.	1128	Q92628	K0232_HUMAN	P	1128	.	ENSP00000303928:S1128P	S	+	1	0	KIAA0232	6916392	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.568000	0.60857	1.970000	0.57323	0.533000	0.62120	TCT		0.443	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
TADA2B	93624	broad.mit.edu	37	4	7055936	7055936	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:7055936G>A	ENST00000310074.7	+	2	607	c.418G>A	c.(418-420)Gga>Aga	p.G140R	TADA2B_ENST00000515646.1_Missense_Mutation_p.G48R|TADA2B_ENST00000512388.1_Missense_Mutation_p.G65R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	140					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G140R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CTGTCCCAGCGGAGGCCCCCT	0.642																																					p.G140R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	4						.						18.0	20.0	20.0					4																	7055936		2055	4182	6237	7106837	SO:0001583	missense	93624	exon2			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.418G>A	4.37:g.7055936G>A	ENSP00000308022:p.Gly140Arg		7106837	NM_152293	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666468	0.47677	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T;T	0.42131	0.98;1.01;1.01;1.01;1.01	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.40543	1.245	0.80722	D	1	D;D	0.60160	0.983;0.987	P;B	0.48704	0.587;0.387	T	0.13124	-1.0521	10	0.14656	T	0.56	-23.6786	19.3325	0.94297	0.0:0.0:1.0:0.0	.	65;140	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	R	48;140;65;48;48	ENSP00000422398:G48R;ENSP00000308022:G140R;ENSP00000423947:G65R;ENSP00000423181:G48R;ENSP00000425731:G48R	ENSP00000308022:G140R	G	+	1	0	TADA2B	7106837	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.510000	0.81708	2.574000	0.86865	0.561000	0.74099	GGA		0.642	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293	
AFAP1	60312	broad.mit.edu	37	4	7795522	7795522	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:7795522A>G	ENST00000360265.4	-	10	1532	c.1298T>C	c.(1297-1299)aTt>aCt	p.I433T	AFAP1_ENST00000358461.2_Missense_Mutation_p.I433T|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.I433T|AFAP1_ENST00000420658.1_Missense_Mutation_p.I433T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	433	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.I433T(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						TAAAATCCCAATCCACCTGCC	0.438																																					p.I433T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1298C	4						.						145.0	147.0	146.0					4																	7795522		2203	4300	6503	7846422	SO:0001583	missense	60312	exon11			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.1298T>C	4.37:g.7795522A>G	ENSP00000353402:p.Ile433Thr		7846422	NM_001134647	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.718839	0.68844	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.18502	2.21;2.44;2.21;2.44	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.235349	0.37348	N	0.002135	T	0.13927	0.0337	N	0.14661	0.345	0.40422	D	0.979852	P;B	0.39424	0.673;0.259	B;B	0.40256	0.324;0.245	T	0.07539	-1.0767	10	0.87932	D	0	-17.3535	15.9098	0.79463	1.0:0.0:0.0:0.0	.	433;433	E9PDT7;Q8N556	.;AFAP1_HUMAN	T	433	ENSP00000353402:I433T;ENSP00000410689:I433T;ENSP00000351245:I433T;ENSP00000371983:I433T	ENSP00000351245:I433T	I	-	2	0	AFAP1	7846422	1.000000	0.71417	0.877000	0.34402	0.511000	0.34104	8.319000	0.89992	2.158000	0.67659	0.455000	0.32223	ATT		0.438	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
ACOX3	8310	broad.mit.edu	37	4	8412045	8412045	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:8412045T>C	ENST00000356406.5	-	6	658	c.581A>G	c.(580-582)aAg>aGg	p.K194R	ACOX3_ENST00000503233.1_Missense_Mutation_p.K194R|ACOX3_ENST00000413009.2_Missense_Mutation_p.K194R	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	194					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.K194R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AACCCAAAACTTGGCAGCTTC	0.473																																					p.K194R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A581G	4						.						99.0	85.0	90.0					4																	8412045		2203	4300	6503	8462945	SO:0001583	missense	8310	exon6			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.581A>G	4.37:g.8412045T>C	ENSP00000348775:p.Lys194Arg		8462945	NM_003501	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681105	0.88542	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233;ENST00000514423	D;D;D;D	0.99685	-6.4;-6.4;-6.4;-6.4	5.21	5.21	0.72293	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.99777	4.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.96194	0.9140	10	0.87932	D	0	-28.6758	14.1942	0.65659	0.0:0.0:0.0:1.0	.	194;194;194	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	R	194;194;194;99	ENSP00000413994:K194R;ENSP00000348775:K194R;ENSP00000421625:K194R;ENSP00000427321:K99R	ENSP00000348775:K194R	K	-	2	0	ACOX3	8462945	1.000000	0.71417	0.921000	0.36526	0.843000	0.47879	6.769000	0.74985	2.189000	0.69895	0.533000	0.62120	AAG		0.473	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
DRD5	1816	broad.mit.edu	37	4	9784036	9784036	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:9784036T>C	ENST00000304374.2	+	1	779	c.383T>C	c.(382-384)aTc>aCc	p.I128T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	128					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.I128T(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACTGCCTCCATCCTGAACCTG	0.617																																					p.I128T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T383C	4						.						50.0	47.0	48.0					4																	9784036		2203	4300	6503	9393134	SO:0001583	missense	1816	exon1			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.383T>C	4.37:g.9784036T>C	ENSP00000306129:p.Ile128Thr		9393134	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	t	17.06	3.291772	0.59976	.	.	ENSG00000169676	ENST00000304374	T	0.76186	-1.0	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92879	0.6321	10	0.87932	D	0	.	12.8864	0.58047	0.0:0.0:0.0:1.0	.	128	P21918	DRD5_HUMAN	T	128	ENSP00000306129:I128T	ENSP00000306129:I128T	I	+	2	0	DRD5	9393134	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.504000	0.81646	1.824000	0.53156	0.254000	0.18369	ATC		0.617	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
PPARGC1A	10891	broad.mit.edu	37	4	23830035	23830035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:23830035G>A	ENST00000264867.2	-	5	864	c.745C>T	c.(745-747)Caa>Taa	p.Q249*	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	249					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.Q249*(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTAAGTGTTGTGACTGCGAC	0.498																																					p.Q249X	Esophageal Squamous(29;694 744 13796 34866 44181)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C745T	4						.						355.0	312.0	326.0					4																	23830035		2203	4300	6503	23439133	SO:0001587	stop_gained	10891	exon5			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.745C>T	4.37:g.23830035G>A	ENSP00000264867:p.Gln249*		23439133	NM_013261	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Nonsense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109932	0.77210	.	.	ENSG00000109819	ENST00000264867	.	.	.	6.17	5.33	0.75918	.	0.605559	0.17140	N	0.185483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	2.1632	11.4995	0.50428	0.0662:0.0:0.8026:0.1312	.	.	.	.	X	249	.	ENSP00000264867:Q249X	Q	-	1	0	PPARGC1A	23439133	1.000000	0.71417	0.738000	0.30950	0.849000	0.48306	3.053000	0.49901	1.627000	0.50400	0.655000	0.94253	CAA		0.498	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	
SLC34A2	10568	broad.mit.edu	37	4	25678341	25678341	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:25678341G>A	ENST00000382051.3	+	13	2093	c.2043G>A	c.(2041-2043)tcG>tcA	p.S681S	SLC34A2_ENST00000504570.1_Silent_p.S680S|SLC34A2_ENST00000503434.1_Silent_p.S680S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	681					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.S681S(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCCTGCCTCGGACTCAAAGA	0.582			T	ROS1	NSCLC																																p.S680S			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2040A	4						.						56.0	57.0	57.0					4																	25678341		2203	4300	6503	25287439	SO:0001819	synonymous_variant	10568	exon13			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2043G>A	4.37:g.25678341G>A			25287439	NM_001177999	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	CCDS3435.1																																																																																				0.582	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
GUF1	60558	broad.mit.edu	37	4	44697670	44697670	+	Missense_Mutation	SNP	G	G	A	rs116110746		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:44697670G>A	ENST00000281543.5	+	15	1948	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.R585Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATATGTGAACGGCTGAAGGAT	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		18181	0.0		0.001	False		,,,				2504	0.0				p.R585Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1754A	4						.	G	GLN/ARG	0,4406		0,0,2203	71.0	73.0	73.0		1754	5.7	1.0	4	dbSNP_132	73	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GUF1	NM_021927.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	585/670	44697670	2,13004	2203	4300	6503	44392427	SO:0001583	missense	60558	exon15				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1754G>A	4.37:g.44697670G>A	ENSP00000281543:p.Arg585Gln		44392427	NM_021927		Missense_Mutation	SNP	ENST00000281543.5	37	CCDS3468.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.6	4.844604	0.91197	0.0	2.33E-4	ENSG00000151806	ENST00000281543	T	0.70516	-0.49	5.74	5.74	0.90152	GTP-binding protein LepA, C-terminal (1);	0.053048	0.64402	D	0.000001	T	0.81837	0.4907	M	0.76328	2.33	0.80722	D	1	D	0.64830	0.994	P	0.56398	0.797	D	0.83673	0.0167	10	0.87932	D	0	-4.1154	18.9232	0.92534	0.0:0.0:1.0:0.0	.	585	Q8N442	GUF1_HUMAN	Q	585	ENSP00000281543:R585Q	ENSP00000281543:R585Q	R	+	2	0	GUF1	44392427	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.389000	0.97243	2.703000	0.92315	0.655000	0.94253	CGG		0.333	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	
GNPDA2	132789	broad.mit.edu	37	4	44712982	44712982	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:44712982C>A	ENST00000295448.3	-	5	738	c.582G>T	c.(580-582)atG>atT	p.M194I	GNPDA2_ENST00000507534.1_Missense_Mutation_p.M124I|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000509756.1_Missense_Mutation_p.M194I|GNPDA2_ENST00000507917.1_Missense_Mutation_p.M160I	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	194					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.M194I(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CTCTAGCATCCATCACTGTCC	0.343																																					p.M194I	Colon(54;743 1010 7604 16453 19544)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G582T	4						.						116.0	113.0	114.0					4																	44712982		2203	4300	6503	44407739	SO:0001583	missense	132789	exon5			AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.582G>T	4.37:g.44712982C>A	ENSP00000295448:p.Met194Ile		44407739	NM_138335	B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Missense_Mutation	SNP	ENST00000295448.3	37	CCDS3469.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686235	0.88639	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000507534;ENST00000509756	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.1	5.1	0.69264	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	M	0.87827	2.91	0.80722	D	1	D;P;D	0.57899	0.972;0.84;0.981	D;P;D	0.63957	0.909;0.78;0.92	T	0.74680	-0.3584	10	0.87932	D	0	-19.4796	17.6809	0.88242	0.0:1.0:0.0:0.0	.	160;194;194	Q2VYF1;Q8TDQ7-3;Q8TDQ7	.;.;GNPI2_HUMAN	I	160;194;124;194	ENSP00000425868:M160I;ENSP00000295448:M194I;ENSP00000427423:M124I;ENSP00000424061:M194I	ENSP00000295448:M194I	M	-	3	0	GNPDA2	44407739	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.320000	0.79064	2.648000	0.89879	0.585000	0.79938	ATG		0.343	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335	
CORIN	10699	broad.mit.edu	37	4	47682240	47682240	+	Silent	SNP	G	G	A	rs13306285		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:47682240G>A	ENST00000273857.4	-	8	1049	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	CORIN_ENST00000508498.1_Silent_p.C211C|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Silent_p.C283C|CORIN_ENST00000505909.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	350	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.C350C(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						GCCCGTCCCCGCAGCGATGCT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20612	0.001		0.0	False		,,,				2504	0.0				p.C350C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1050T	4						.						108.0	83.0	91.0					4																	47682240		2203	4300	6503	47376997	SO:0001819	synonymous_variant	10699	exon8			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.1050C>T	4.37:g.47682240G>A			47376997	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																				0.547	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
CWH43	80157	broad.mit.edu	37	4	49034650	49034650	+	Missense_Mutation	SNP	G	G	A	rs376324090		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:49034650G>A	ENST00000226432.4	+	12	1759	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	CWH43_ENST00000513409.1_Missense_Mutation_p.E499K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	526					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.E526K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCAGAGGGCGAGATCGCACC	0.478																																					p.E526K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	4						.						231.0	198.0	209.0					4																	49034650		2203	4300	6503	48729407	SO:0001583	missense	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.1576G>A	4.37:g.49034650G>A	ENSP00000226432:p.Glu526Lys		48729407	NM_025087	B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576008	0.86645	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29397	1.57;1.57	5.24	4.38	0.52667	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000007	T	0.48554	0.1506	M	0.83312	2.635	0.39772	D	0.97218	D	0.65815	0.995	P	0.53954	0.738	T	0.55121	-0.8190	9	.	.	.	.	12.2826	0.54774	0.0809:0.0:0.9191:0.0	.	526	Q9H720	PG2IP_HUMAN	K	526;499	ENSP00000226432:E526K;ENSP00000422802:E499K	.	E	+	1	0	CWH43	48729407	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.479000	0.60236	2.737000	0.93849	0.561000	0.74099	GAG		0.478	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
SCFD2	152579	broad.mit.edu	37	4	54218781	54218781	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:54218781A>G	ENST00000401642.3	-	2	1124	c.991T>C	c.(991-993)Tgt>Cgt	p.C331R	SCFD2_ENST00000388940.4_Missense_Mutation_p.C331R	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	331					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.C331R(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGAAAGACAGCCTGGTGCA	0.418																																					p.C331R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T991C	4						.						138.0	125.0	129.0					4																	54218781		2203	4300	6503	53913538	SO:0001583	missense	152579	exon2			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.991T>C	4.37:g.54218781A>G	ENSP00000384182:p.Cys331Arg		53913538	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766171	0.49574	.	.	ENSG00000184178	ENST00000401642;ENST00000388940;ENST00000503450	T;T	0.79033	-1.23;-1.23	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	D	0.88267	0.2927	10	0.59425	D	0.04	.	14.1635	0.65461	1.0:0.0:0.0:0.0	.	331;331	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	R	331;331;24	ENSP00000384182:C331R;ENSP00000373592:C331R	ENSP00000373592:C331R	C	-	1	0	SCFD2	53913538	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	7.161000	0.77505	2.004000	0.58718	0.482000	0.46254	TGT		0.418	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	
LNX1	84708	broad.mit.edu	37	4	54344777	54344777	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:54344777C>T	ENST00000263925.7	-	8	1932	c.1618G>A	c.(1618-1620)Gtt>Att	p.V540I	LNX1_ENST00000306888.2_Missense_Mutation_p.V444I|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	540	PDZ 3. {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.V444I(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)			CCGGGCTCAACACTGATGACA	0.453																																					p.V540I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1618A	4						.						186.0	183.0	184.0					4																	54344777		2203	4300	6503	54039534	SO:0001583	missense	84708	exon8			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.1618G>A	4.37:g.54344777C>T	ENSP00000263925:p.Val540Ile		54039534	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811725	0.50527	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.43294	0.95;0.95	4.92	3.19	0.36642	PDZ/DHR/GLGF (4);	0.054964	0.64402	N	0.000001	T	0.30792	0.0776	N	0.26092	0.79	0.80722	D	1	B;B	0.26400	0.148;0.145	B;B	0.35550	0.133;0.205	T	0.03750	-1.1007	10	0.13108	T	0.6	.	11.4094	0.49917	0.0:0.8532:0.0:0.1468	.	540;444	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	I	444;378;540	ENSP00000302879:V444I;ENSP00000263925:V540I	ENSP00000263925:V540I	V	-	1	0	LNX1	54039534	1.000000	0.71417	0.954000	0.39281	0.960000	0.62799	3.296000	0.51802	0.785000	0.33685	0.655000	0.94253	GTT		0.453	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
EPHA5	2044	broad.mit.edu	37	4	66217128	66217128	+	Silent	SNP	G	G	T	rs139853168		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:66217128G>T	ENST00000273854.3	-	14	3087	c.2487C>A	c.(2485-2487)ccC>ccA	p.P829P	EPHA5_ENST00000511294.1_Silent_p.P830P|EPHA5_ENST00000432638.2_Silent_p.P666P|EPHA5_ENST00000354839.4_Silent_p.P807P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	829	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.P829P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGGCTGCCTCGGGATCATCTT	0.408										TSP Lung(17;0.13)																											p.P829P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2487A	4						.						112.0	104.0	107.0					4																	66217128		2203	4300	6503	65899723	SO:0001819	synonymous_variant	2044	exon14			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2487C>A	4.37:g.66217128G>T			65899723	NM_004439	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.408	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
ENAM	10117	broad.mit.edu	37	4	71509619	71509619	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:71509619G>T	ENST00000396073.3	+	9	2757	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	826					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.G826C(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGGCATGAAGGTGAGAATTT	0.443																																					p.G826C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2476T	4						.						85.0	87.0	86.0					4																	71509619		2203	4300	6503	71728483	SO:0001583	missense	10117	exon9			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2476G>T	4.37:g.71509619G>T	ENSP00000379383:p.Gly826Cys		71728483	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	8.678	0.904445	0.17760	.	.	ENSG00000132464	ENST00000396073	T	0.34667	1.35	6.08	3.18	0.36537	.	0.808430	0.11318	N	0.576399	T	0.53417	0.1795	L	0.58810	1.83	0.09310	N	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.33574	-0.9863	10	0.59425	D	0.04	-0.2714	8.8868	0.35409	0.2553:0.0:0.7447:0.0	.	826	Q9NRM1	ENAM_HUMAN	C	826	ENSP00000379383:G826C	ENSP00000379383:G826C	G	+	1	0	ENAM	71728483	0.523000	0.26274	0.545000	0.28153	0.037000	0.13140	0.794000	0.26958	0.777000	0.33496	0.655000	0.94253	GGT		0.443	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
USO1	8615	broad.mit.edu	37	4	76726330	76726330	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:76726330G>T	ENST00000538159.1	+	20	2190	c.2190G>T	c.(2188-2190)ggG>ggT	p.G730G	USO1_ENST00000514213.2_Silent_p.G706G			O60763	USO1_HUMAN	USO1 vesicle transport factor	721					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.G730G(1)|p.G649G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGTGAGGGGGCTCAGATGA	0.383																																					p.G671V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2012T	4						.						64.0	63.0	63.0					4																	76726330		1868	4093	5961	76945354	SO:0001819	synonymous_variant	8615	exon17			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2190G>T	4.37:g.76726330G>T			76945354	NM_003715	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Silent	SNP	ENST00000538159.1	37		.	.	.	.	.	.	.	.	.	.	G	4.970	0.180105	0.09443	.	.	ENSG00000138768	ENST00000441296	.	.	.	5.52	1.04	0.20106	.	0.554792	0.20330	N	0.094446	T	0.25606	0.0623	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13495	-1.0507	6	0.30078	T	0.28	.	5.4058	0.16320	0.292:0.0:0.4836:0.2244	.	.	.	.	V	397	.	ENSP00000411698:G397V	G	+	2	0	USO1	76945354	0.003000	0.15002	0.071000	0.20095	0.772000	0.43724	0.085000	0.14912	0.232000	0.21100	0.455000	0.32223	GGG		0.383	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	
BMP2K	55589	broad.mit.edu	37	4	79832027	79832027	+	Missense_Mutation	SNP	G	G	A	rs560165697		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:79832027G>A	ENST00000335016.5	+	16	2492	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	776					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.D776N(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TAATGATGATGATACTGAACC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		21330	0.0		0.0	False		,,,				2504	0.001				p.D776N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2326A	4						.						53.0	50.0	51.0					4																	79832027		1879	4096	5975	80051051	SO:0001583	missense	55589	exon16			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2326G>A	4.37:g.79832027G>A	ENSP00000334836:p.Asp776Asn		80051051	NM_198892	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691779	0.30052	.	.	ENSG00000138756	ENST00000335016	T	0.78126	-1.15	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.81111	-0.1081	10	0.24483	T	0.36	-22.7645	15.3831	0.74676	0.0:0.0:0.8601:0.1399	.	776	Q9NSY1	BMP2K_HUMAN	N	776	ENSP00000334836:D776N	ENSP00000334836:D776N	D	+	1	0	BMP2K	80051051	1.000000	0.71417	0.733000	0.30861	0.011000	0.07611	7.312000	0.78968	2.688000	0.91661	0.555000	0.69702	GAT		0.428	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
SCD5	79966	broad.mit.edu	37	4	83557804	83557804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:83557804G>A	ENST00000319540.4	-	4	1061	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	248					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.R248W(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCATAGGGCCGGTTTCCATAC	0.562																																					p.R248W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C742T	4						.						135.0	116.0	122.0					4																	83557804		2203	4300	6503	83776828	SO:0001583	missense	79966	exon4			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.742C>T	4.37:g.83557804G>A	ENSP00000316329:p.Arg248Trp		83776828	NM_001037582	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402122	0.83230	.	.	ENSG00000145284	ENST00000319540	T	0.17370	2.28	5.08	4.23	0.50019	Fatty acid desaturase, type 1 (1);	0.114810	0.64402	D	0.000013	T	0.59418	0.2192	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78270	-0.2269	10	0.87932	D	0	-1.1049	15.5395	0.76031	0.0:0.0:0.8613:0.1387	.	248	Q86SK9	SCD5_HUMAN	W	248	ENSP00000316329:R248W	ENSP00000316329:R248W	R	-	1	2	SCD5	83776828	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.722000	0.47269	1.474000	0.48178	0.655000	0.94253	CGG		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906	
SEC31A	22872	broad.mit.edu	37	4	83778105	83778105	+	Splice_Site	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:83778105C>T	ENST00000395310.2	-	16	2063	c.1881G>A	c.(1879-1881)agG>agA	p.R627R	SEC31A_ENST00000443462.2_Splice_Site_p.R622R|SEC31A_ENST00000311785.7_Splice_Site_p.R627R|SEC31A_ENST00000508502.1_Splice_Site_p.R627R|SEC31A_ENST00000500777.2_Splice_Site_p.R588R|SEC31A_ENST00000508479.1_Splice_Site_p.R627R|SEC31A_ENST00000355196.2_Splice_Site_p.R627R|SEC31A_ENST00000505472.1_Splice_Site_p.R627R|SEC31A_ENST00000432794.1_Splice_Site_p.R627R|SEC31A_ENST00000264405.5_Splice_Site_p.R360R|SEC31A_ENST00000448323.1_Splice_Site_p.R627R|SEC31A_ENST00000513858.1_Splice_Site_p.R588R|SEC31A_ENST00000326950.5_Splice_Site_p.R588R|SEC31A_ENST00000509142.1_Splice_Site_p.R627R|SEC31A_ENST00000505984.1_Splice_Site_p.R588R|SEC31A_ENST00000348405.4_Splice_Site_p.R588R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	627					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|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)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.R627R(1)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AATAACATACCCTGGTAATTT	0.338																																					p.R627R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1881A	4						.						60.0	61.0	61.0					4																	83778105		2203	4300	6503	83997129	SO:0001630	splice_region_variant	22872	exon16			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1881+1G>A	4.37:g.83778105C>T			83997129	NM_001077206	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909422	0.52439	.	.	ENSG00000138674	ENST00000507828;ENST00000512664	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	T	0.76673	0.4020	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74393	-0.3680	4	.	.	.	-17.3503	19.949	0.97192	0.0:1.0:0.0:0.0	.	.	.	.	T	244;142	.	.	A	-	1	0	SEC31A	83997129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.056000	0.71111	2.706000	0.92434	0.655000	0.94253	GCT		0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	Silent
WDFY3	23001	broad.mit.edu	37	4	85708677	85708677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:85708677C>A	ENST00000295888.4	-	23	4266	c.3859G>T	c.(3859-3861)Gga>Tga	p.G1287*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.G1287*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1287					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.G1287*(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)		TAATTTGGTCCAAGTTCATAA	0.383																																					p.G1287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3859T	4						.						75.0	74.0	74.0					4																	85708677		2203	4300	6503	85927701	SO:0001587	stop_gained	23001	exon23			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.3859G>T	4.37:g.85708677C>A	ENSP00000295888:p.Gly1287*		85927701	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	47	13.093687	0.99719	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3523	0.98815	0.0:1.0:0.0:0.0	.	.	.	.	X	1287	.	ENSP00000295888:G1287X	G	-	1	0	WDFY3	85927701	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.478000	0.81082	2.821000	0.97095	0.484000	0.47621	GGA		0.383	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
FAM13A	10144	broad.mit.edu	37	4	89671758	89671758	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:89671758C>T	ENST00000264344.5	-	15	1964	c.1757G>A	c.(1756-1758)cGg>cAg	p.R586Q	FAM13A_ENST00000513837.1_Missense_Mutation_p.R232Q|FAM13A_ENST00000511976.1_Missense_Mutation_p.R172Q|FAM13A_ENST00000503556.1_Missense_Mutation_p.R246Q|FAM13A_ENST00000508369.1_Missense_Mutation_p.R260Q|FAM13A_ENST00000395002.2_Missense_Mutation_p.R260Q	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	586					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R586Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACTGTTCTCCCGCTGCCAGGA	0.562																																					p.R586Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1757A	4						.						63.0	63.0	63.0					4																	89671758		2203	4300	6503	89890781	SO:0001583	missense	10144	exon15			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1757G>A	4.37:g.89671758C>T	ENSP00000264344:p.Arg586Gln		89890781	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139932	0.37728	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.43294	0.95;2.23;1.54;1.56;1.54;1.55	5.52	-1.01	0.10169	.	0.654959	0.16080	N	0.230555	T	0.18173	0.0436	N	0.12182	0.205	0.80722	D	1	B;B;B;B;B;B;B	0.20052	0.007;0.007;0.024;0.041;0.007;0.001;0.004	B;B;B;B;B;B;B	0.11329	0.005;0.005;0.005;0.002;0.005;0.003;0.006	T	0.10382	-1.0632	10	0.18276	T	0.48	.	5.0866	0.14687	0.0:0.2835:0.2757:0.4408	.	232;265;172;586;260;246;260	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	Q	260;586;246;172;260;232	ENSP00000378450:R260Q;ENSP00000264344:R586Q;ENSP00000427189:R246Q;ENSP00000421914:R172Q;ENSP00000421562:R260Q;ENSP00000423252:R232Q	ENSP00000264344:R586Q	R	-	2	0	FAM13A	89890781	0.198000	0.23374	0.137000	0.22149	0.152000	0.21847	0.505000	0.22642	-0.429000	0.07329	-0.253000	0.11424	CGG		0.562	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
GPRIN3	285513	broad.mit.edu	37	4	90168977	90168977	+	Missense_Mutation	SNP	C	C	T	rs188231775		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:90168977C>T	ENST00000609438.1	-	2	2803	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R762H	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	762								p.R762L(1)|p.R762H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAGTTGGGGCGTCGGAAGTT	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16937	0.0		0.0	False		,,,				2504	0.0				p.R762H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2285A	4						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	115.0	113.0		2285	5.3	1.0	4		113	0,8600		0,0,4300	no	missense	GPRIN3	NM_198281.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	762/777	90168977	1,13005	2203	4300	6503	90388000	SO:0001583	missense	285513	exon2			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2285G>A	4.37:g.90168977C>T	ENSP00000476603:p.Arg762His		90388000	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	33	5.224050	0.95139	2.27E-4	0.0	ENSG00000185477	ENST00000333209	T	0.26223	1.75	5.26	5.26	0.73747	.	0.000000	0.34200	N	0.004170	T	0.48187	0.1486	L	0.49126	1.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.43669	-0.9377	10	0.87932	D	0	-16.2165	19.0719	0.93143	0.0:1.0:0.0:0.0	.	762	Q6ZVF9	GRIN3_HUMAN	H	762	ENSP00000328672:R762H	ENSP00000328672:R762H	R	-	2	0	GPRIN3	90388000	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.589000	0.67523	2.734000	0.93682	0.655000	0.94253	CGC		0.488	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281	
ZFP42	132625	broad.mit.edu	37	4	188924761	188924761	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr4:188924761G>A	ENST00000326866.4	+	4	1208	c.800G>A	c.(799-801)cGc>cAc	p.R267H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R267H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	267					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R267H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACGCACGTGCGCATCCACACG	0.498																																					p.R267H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G800A	4						.						75.0	73.0	74.0					4																	188924761		2203	4300	6503	189161755	SO:0001583	missense	132625	exon4			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.800G>A	4.37:g.188924761G>A	ENSP00000317686:p.Arg267His		189161755	NM_174900	D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129643	0.56721	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.25749	1.78;1.78	4.39	2.66	0.31614	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.146151	0.47852	D	0.000220	T	0.45276	0.1334	M	0.77406	2.37	0.30370	N	0.782978	D	0.89917	1.0	D	0.63488	0.915	T	0.49643	-0.8918	10	0.87932	D	0	.	9.0576	0.36414	0.1799:0.0:0.8201:0.0	.	267	Q96MM3	ZFP42_HUMAN	H	267	ENSP00000317686:R267H;ENSP00000424662:R267H	ENSP00000317686:R267H	R	+	2	0	ZFP42	189161755	1.000000	0.71417	0.641000	0.29422	0.152000	0.21847	6.355000	0.73041	0.791000	0.33826	0.655000	0.94253	CGC		0.498	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
CAMK4	814	broad.mit.edu	37	5	110560202	110560202	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:110560202C>A	ENST00000282356.4	+	1	419	c.21C>A	c.(19-21)ccC>ccA	p.P7P	CAMK4_ENST00000512453.1_Silent_p.P7P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	7					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.P7P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCACGGTGCCCTCCTGCTCCG	0.731																																					p.P7P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C21A	5						.						20.0	21.0	21.0					5																	110560202		2199	4298	6497	110588101	SO:0001819	synonymous_variant	814	exon1			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.21C>A	5.37:g.110560202C>A			110588101	NM_001744	D3DSZ7	Silent	SNP	ENST00000282356.4	37	CCDS4103.1																																																																																				0.731	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
APC	324	broad.mit.edu	37	5	112116551	112116551	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:112116551C>T	ENST00000457016.1	+	6	976	c.596C>T	c.(595-597)gCg>gTg	p.A199V	RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000257430.4_Missense_Mutation_p.A199V|APC_ENST00000508376.2_Missense_Mutation_p.A199V			P25054	APC_HUMAN	adenomatous polyposis coli	199	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.A199V(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATCAGAGTTGCGATGGAAGAA	0.353		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.A209V	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C626T	5						.						71.0	71.0	71.0					5																	112116551		2202	4300	6502	112144450	SO:0001583	missense	324	exon5	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.596C>T	5.37:g.112116551C>T	ENSP00000413133:p.Ala199Val		112144450	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790930	0.31685	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	N	0.08118	0	0.80722	D	1	P;P	0.45011	0.753;0.848	B;B	0.31547	0.091;0.132	T	0.59467	-0.7449	10	0.06625	T	0.88	-17.3785	19.2841	0.94063	0.0:1.0:0.0:0.0	.	201;199	Q4LE70;P25054	.;APC_HUMAN	V	199;209;199;199;199	ENSP00000413133:A199V;ENSP00000423224:A209V;ENSP00000257430:A199V;ENSP00000427089:A199V;ENSP00000423828:A199V	ENSP00000257430:A199V	A	+	2	0	APC	112144450	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.181000	0.77682	2.535000	0.85469	0.655000	0.94253	GCG		0.353	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175052	112175052	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:112175052T>A	ENST00000457016.1	+	16	4141	c.3761T>A	c.(3760-3762)aTt>aAt	p.I1254N	APC_ENST00000257430.4_Missense_Mutation_p.I1254N|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.I1254N			P25054	APC_HUMAN	adenomatous polyposis coli	1254	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		I -> F (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I1254N(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTTTCTTCTATTAACCAAGAA	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.I1236N	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,rectum,Substitution - Missense,+1 	.	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)	c.T3707A	5						.						48.0	50.0	49.0					5																	112175052		2202	4300	6502	112202951	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3761T>A	5.37:g.112175052T>A	ENSP00000413133:p.Ile1254Asn		112202951	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126521	0.56721	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90844	-2.57;-2.57;-2.57;-2.74	6.03	6.03	0.97812	.	0.069268	0.64402	D	0.000017	D	0.92331	0.7567	L	0.32530	0.975	0.49130	D	0.999752	P;D	0.65815	0.948;0.995	P;D	0.75484	0.603;0.986	D	0.91505	0.5222	9	.	.	.	-11.9445	16.2316	0.82347	0.0:0.0:0.0:1.0	.	1256;1254	Q4LE70;P25054	.;APC_HUMAN	N	1254	ENSP00000413133:I1254N;ENSP00000257430:I1254N;ENSP00000427089:I1254N;ENSP00000423828:I1254N	.	I	+	2	0	APC	112202951	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.505000	0.66981	2.308000	0.77769	0.533000	0.62120	ATT		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
TRIM36	55521	broad.mit.edu	37	5	114499257	114499257	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:114499257G>T	ENST00000282369.3	-	2	377	c.256C>A	c.(256-258)Ccc>Acc	p.P86T	TRIM36_ENST00000513154.1_Missense_Mutation_p.P74T|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	86					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P86T(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTAGGGGAGGGGAGCCGAAGT	0.438																																					p.P86T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C256A	5						.						123.0	117.0	119.0					5																	114499257		2202	4300	6502	114527156	SO:0001583	missense	55521	exon2			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.256C>A	5.37:g.114499257G>T	ENSP00000282369:p.Pro86Thr		114527156	NM_018700	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	6.494	0.459331	0.12342	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.52983	0.64;0.76;0.95	5.31	-2.34	0.06704	Zinc finger, RING-type (1);	0.311639	0.35555	N	0.003123	T	0.17959	0.0431	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.13522	-1.0506	10	0.12766	T	0.61	.	1.4423	0.02357	0.3752:0.107:0.321:0.1968	.	74;86	E9PFI8;Q9NQ86	.;TRI36_HUMAN	T	86;74;74	ENSP00000282369:P86T;ENSP00000423934:P74T;ENSP00000424743:P74T	ENSP00000282369:P86T	P	-	1	0	TRIM36	114527156	0.909000	0.30893	0.002000	0.10522	0.971000	0.66376	0.600000	0.24104	-0.979000	0.03529	-0.794000	0.03295	CCC		0.438	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	
CCDC112	153733	broad.mit.edu	37	5	114607024	114607024	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:114607024C>T	ENST00000512261.1	-	8	1385	c.969G>A	c.(967-969)caG>caA	p.Q323Q	CCDC112_ENST00000379611.5_Silent_p.Q406Q|CCDC112_ENST00000506442.1_Silent_p.Q323Q|CCDC112_ENST00000395557.4_Silent_p.Q323Q			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	323								p.Q406Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTTCTTCTGCTGGGTATAAC	0.368																																					p.Q406Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1218A	5						.						112.0	122.0	119.0					5																	114607024		2202	4299	6501	114634923	SO:0001819	synonymous_variant	153733	exon7			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.969G>A	5.37:g.114607024C>T			114634923	NM_001040440	Q6A334	Silent	SNP	ENST00000512261.1	37	CCDS4117.1																																																																																				0.368	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
SEMA6A	57556	broad.mit.edu	37	5	115813545	115813545	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:115813545C>T	ENST00000343348.6	-	15	2433	c.1646G>A	c.(1645-1647)aGc>aAc	p.S549N	SEMA6A_ENST00000510263.1_Missense_Mutation_p.S549N|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S81N|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S549N|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	549					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.S549N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGCCTACCTGCTGTTGGGTGA	0.517																																					p.S549N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1646A	5						.						113.0	112.0	112.0					5																	115813545		2029	4205	6234	115841444	SO:0001583	missense	57556	exon15			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1646G>A	5.37:g.115813545C>T	ENSP00000345512:p.Ser549Asn		115841444	NM_020796	Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.538|8.538	0.872664|0.872664	0.17322|0.17322	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000282394;ENST00000510263	.|T;T;T;T	.|0.22743	.|1.94;1.94;1.94;1.94	5.76|5.76	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	T|T	0.17534|0.17534	0.0421|0.0421	L|L	0.31294|0.31294	0.92|0.92	0.30308|0.30308	N|N	0.7888|0.7888	.|B;B;B;B	.|0.23377	.|0.0;0.084;0.001;0.0	.|B;B;B;B	.|0.26770	.|0.003;0.073;0.002;0.001	T|T	0.04242|0.04242	-1.0966|-1.0966	5|9	.|0.30078	.|T	.|0.28	.|.	12.8987|12.8987	0.58113|0.58113	0.0:0.6258:0.3742:0.0|0.0:0.6258:0.3742:0.0	.|.	.|549;93;549;81	.|Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3	.|SEM6A_HUMAN;.;.;.	T|N	119|549;549;81;549	.|ENSP00000345512:S549N;ENSP00000257414:S549N;ENSP00000282394:S81N;ENSP00000424388:S549N	.|ENSP00000257414:S549N	A|S	-|-	1|2	0|0	SEMA6A|SEMA6A	115841444|115841444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.092000|0.092000	0.18411|0.18411	2.335000|2.335000	0.43929|0.43929	2.718000|2.718000	0.92993|0.92993	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.517	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
FAM170A	340069	broad.mit.edu	37	5	118970052	118970052	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:118970052G>A	ENST00000515256.1	+	3	781	c.609G>A	c.(607-609)ctG>ctA	p.L203L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	203					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L203L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAGACAGCCTGCCAGGCTCAC	0.592																																					p.L203L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G609A	5						.						85.0	94.0	91.0					5																	118970052		2117	4230	6347	118997951	SO:0001819	synonymous_variant	340069	exon3			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.609G>A	5.37:g.118970052G>A			118997951	NM_182761	Q66LM8|Q7Z4V2|Q8IW94	Silent	SNP	ENST00000515256.1	37																																																																																					0.592	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761	
CEP120	153241	broad.mit.edu	37	5	122725726	122725726	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:122725726C>T	ENST00000306467.5	-	8	1451	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M	CEP120_ENST00000306481.6_Missense_Mutation_p.V357M|CEP120_ENST00000328236.5_Missense_Mutation_p.V383M			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	383					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.V383M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAGGGGACACTGTTGGTGAT	0.413																																					p.V357M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1069A	5						.						182.0	167.0	171.0					5																	122725726		1901	4127	6028	122753625	SO:0001583	missense	153241	exon8			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1147G>A	5.37:g.122725726C>T	ENSP00000303058:p.Val383Met		122753625	NM_001166226	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	9.928	1.213960	0.22289	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.43294	2.27;2.27;2.27;0.95	5.28	-4.22	0.03800	.	1.899990	0.02733	N	0.115339	T	0.33818	0.0876	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35276	-0.9795	10	0.46703	T	0.11	0.2509	9.0062	0.36113	0.0:0.3796:0.1047:0.5157	.	383	Q8N960	CE120_HUMAN	M	383;383;357;357	ENSP00000303058:V383M;ENSP00000327504:V383M;ENSP00000307419:V357M;ENSP00000421620:V357M	ENSP00000303058:V383M	V	-	1	0	CEP120	122753625	0.000000	0.05858	0.000000	0.03702	0.772000	0.43724	-1.613000	0.02059	-0.702000	0.05056	0.467000	0.42956	GTG		0.413	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223	
PRRC1	133619	broad.mit.edu	37	5	126887538	126887538	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:126887538A>C	ENST00000296666.8	+	9	1456	c.1268A>C	c.(1267-1269)cAg>cCg	p.Q423P	PRRC1_ENST00000512635.2_Missense_Mutation_p.Q423P|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000442138.2_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	423						Golgi apparatus (GO:0005794)		p.Q423P(1)		endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TCCCGTCGGCAGATGATCTAC	0.532																																					p.Q423P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1268C	5						.						101.0	100.0	101.0					5																	126887538		2203	4300	6503	126915437	SO:0001583	missense	133619	exon9			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1268A>C	5.37:g.126887538A>C	ENSP00000296666:p.Gln423Pro		126915437	NM_130809	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258347	0.80246	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.36	5.36	0.76844	.	0.118236	0.64402	D	0.000014	T	0.63271	0.2497	M	0.62723	1.935	0.54753	D	0.99998	D	0.56035	0.974	P	0.49226	0.603	T	0.67662	-0.5613	9	0.59425	D	0.04	-3.6518	14.6962	0.69124	1.0:0.0:0.0:0.0	.	423	Q96M27	PRRC1_HUMAN	P	423	.	ENSP00000296666:Q423P	Q	+	2	0	PRRC1	126915437	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.078000	0.76821	2.250000	0.74265	0.455000	0.32223	CAG		0.532	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809	
SLC12A2	6558	broad.mit.edu	37	5	127493783	127493783	+	Missense_Mutation	SNP	G	G	A	rs142105778		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:127493783G>A	ENST00000262461.2	+	16	2591	c.2402G>A	c.(2401-2403)cGt>cAt	p.R801H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R801H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	801					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.R801H(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)	CCAAACTCACGTCCAGCTTTA	0.333																																					p.R801H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2402A	5						.	G	HIS/ARG	0,4406		0,0,2203	139.0	128.0	132.0		2402	5.3	1.0	5	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC12A2	NM_001046.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	801/1213	127493783	1,13005	2203	4300	6503	127521682	SO:0001583	missense	6558	exon16				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.2402G>A	5.37:g.127493783G>A	ENSP00000262461:p.Arg801His		127521682	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256590	0.95336	0.0	1.16E-4	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.91237	-2.81;-2.81	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.93328	3.405	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	0.97360	0.9969	10	0.87932	D	0	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	801;15;801	P55011-3;Q59GB7;P55011	.;.;S12A2_HUMAN	H	801	ENSP00000262461:R801H;ENSP00000340878:R801H	ENSP00000262461:R801H	R	+	2	0	SLC12A2	127521682	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	9.150000	0.94667	2.775000	0.95449	0.650000	0.86243	CGT		0.333	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
DNAH5	1767	broad.mit.edu	37	5	13883128	13883128	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:13883128T>A	ENST00000265104.4	-	20	3163	c.3059A>T	c.(3058-3060)aAc>aTc	p.N1020I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1020	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1020I(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATGACGATGTTGGGAATGGC	0.522									Kartagener syndrome																												p.N1020I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3059T	5						.						155.0	141.0	145.0					5																	13883128		2203	4300	6503	13936128	SO:0001583	missense	1767	exon20	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3059A>T	5.37:g.13883128T>A	ENSP00000265104:p.Asn1020Ile		13936128	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113804	0.56398	.	.	ENSG00000039139	ENST00000265104	T	0.25250	1.81	6.03	6.03	0.97812	.	0.090061	0.64402	D	0.000001	T	0.40767	0.1130	M	0.88979	2.995	0.58432	D	0.999992	B	0.15473	0.013	B	0.19946	0.027	T	0.32929	-0.9888	10	0.46703	T	0.11	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1020	Q8TE73	DYH5_HUMAN	I	1020	ENSP00000265104:N1020I	ENSP00000265104:N1020I	N	-	2	0	DNAH5	13936128	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.776000	0.62354	2.313000	0.78055	0.455000	0.32223	AAC		0.522	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
C5orf56	441108	broad.mit.edu	37	5	131796458	131796458	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:131796458T>C	ENST00000337752.2	+	4	424	c.293T>C	c.(292-294)cTg>cCg	p.L98P	C5orf56_ENST00000378953.4_Intron|C5orf56_ENST00000407797.1_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	98								p.L98P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						tacacttgcctgtgctgggca	0.428																																					p.L98P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T293C	5						.						57.0	52.0	54.0					5																	131796458		2203	4300	6503	131824357	SO:0001583	missense	441108	exon4			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.293T>C	5.37:g.131796458T>C	ENSP00000338228:p.Leu98Pro		131824357	NM_001013717	A1L3V9|A6NKA0	Missense_Mutation	SNP	ENST00000337752.2	37		.	.	.	.	.	.	.	.	.	.	T	11.70	1.715744	0.30413	.	.	ENSG00000197536	ENST00000337752	.	.	.	3.05	-0.986	0.10252	.	.	.	.	.	T	0.50633	0.1627	.	.	.	0.09310	N	0.999994	D	0.69078	0.997	P	0.62184	0.899	T	0.40117	-0.9580	7	0.87932	D	0	.	4.3161	0.10993	0.2003:0.0:0.4117:0.388	.	98	Q8N8D9	CE056_HUMAN	P	98	.	ENSP00000338228:L98P	L	+	2	0	C5orf56	131824357	0.003000	0.15002	0.016000	0.15963	0.566000	0.35808	0.025000	0.13577	-0.175000	0.10725	0.533000	0.62120	CTG		0.428	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000132329.1	NM_001013717	
PCDHA13	56136	broad.mit.edu	37	5	140263694	140263694	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:140263694C>T	ENST00000289272.2	+	1	1841	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A614V|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	614	Cadherin 6. {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.A614V(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)			TTGCAGCTGGCGGCGGTCGGC	0.692																																					p.A614V	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1841T	5						.						58.0	63.0	61.0					5																	140263694		2202	4298	6500	140243878	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.1841C>T	5.37:g.140263694C>T	ENSP00000289272:p.Ala614Val		140243878	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120373	0.06838	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51817	0.69;0.69	3.97	-0.0535	0.13817	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33644	0.0870	L	0.42581	1.335	0.09310	N	1	B;B;B	0.23377	0.058;0.042;0.084	B;B;B	0.19148	0.024;0.009;0.02	T	0.32745	-0.9895	9	0.59425	D	0.04	.	3.0478	0.06159	0.1403:0.5487:0.1373:0.1737	.	614;614;614	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	614	ENSP00000386821:A614V;ENSP00000289272:A614V	ENSP00000289272:A614V	A	+	2	0	PCDHA13	140243878	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.714000	0.05002	0.341000	0.23771	0.655000	0.94253	GCG		0.692	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB8	56128	broad.mit.edu	37	5	140559206	140559206	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:140559206C>T	ENST00000239444.2	+	1	1836	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	531	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.R531W(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGGGTGGGCGC	0.672																																					p.R531W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1591T	5						.						86.0	143.0	124.0					5																	140559206		2203	4300	6503	140539390	SO:0001583	missense	56128	exon1			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1591C>T	5.37:g.140559206C>T	ENSP00000239444:p.Arg531Trp		140539390	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560160	0.27827	.	.	ENSG00000120322	ENST00000239444	T	0.01804	4.63	4.22	-2.82	0.05787	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.04092	0.0114	L	0.46157	1.445	0.09310	N	1	D	0.67145	0.996	P	0.59595	0.86	T	0.36890	-0.9729	9	0.33940	T	0.23	.	9.5713	0.39429	0.1683:0.4195:0.4122:0.0	.	531	Q9UN66	PCDB8_HUMAN	W	531	ENSP00000239444:R531W	ENSP00000239444:R531W	R	+	1	2	PCDHB8	140539390	0.000000	0.05858	0.767000	0.31495	0.185000	0.23345	-4.648000	0.00203	-0.198000	0.10333	0.298000	0.19748	CGG		0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB15	56121	broad.mit.edu	37	5	140626488	140626488	+	Missense_Mutation	SNP	G	G	A	rs199965909		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:140626488G>A	ENST00000231173.3	+	1	1342	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	448	Cadherin 4. {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.A448T(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.592																																					p.A448T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1342A	5						.						106.0	102.0	103.0					5																	140626488		2203	4300	6503	140606672	SO:0001583	missense	56121	exon1			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1342G>A	5.37:g.140626488G>A	ENSP00000231173:p.Ala448Thr		140606672	NM_018935	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289946	0.40494	.	.	ENSG00000113248	ENST00000231173	T	0.03181	4.02	4.52	2.52	0.30459	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06600	0.0169	M	0.80616	2.505	0.30060	N	0.811001	P	0.39737	0.685	B	0.34652	0.187	T	0.05517	-1.0880	9	0.56958	D	0.05	.	9.5926	0.39554	0.0895:0.2537:0.6569:0.0	.	448	Q9Y5E8	PCDBF_HUMAN	T	448	ENSP00000231173:A448T	ENSP00000231173:A448T	A	+	1	0	PCDHB15	140606672	0.003000	0.15002	1.000000	0.80357	0.909000	0.53808	0.591000	0.23969	1.051000	0.40369	0.485000	0.47835	GCC		0.592	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
PCDHGA4	56111	broad.mit.edu	37	5	140736260	140736260	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:140736260G>A	ENST00000571252.1	+	1	1493	c.1493G>A	c.(1492-1494)gGt>gAt	p.G498D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	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)			ACCTTCCAGGGTGCACCTCTG	0.517																																					p.G498D												.	.	0			c.G1493A	5						.						129.0	136.0	134.0					5																	140736260		2092	4252	6344	140716444	SO:0001583	missense	56111	exon1			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1493G>A	5.37:g.140736260G>A	ENSP00000458570:p.Gly498Asp		140716444	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.517	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
PCDHGA6	56109	broad.mit.edu	37	5	140754906	140754906	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:140754906A>T	ENST00000517434.1	+	1	1256	c.1256A>T	c.(1255-1257)aAc>aTc	p.N419I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	419	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.N419I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTGTACAACATCACTGTG	0.453																																					p.N419I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1256T	5						.						98.0	103.0	101.0					5																	140754906		2080	4219	6299	140735090	SO:0001583	missense	56109	exon1			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1256A>T	5.37:g.140754906A>T	ENSP00000429601:p.Asn419Ile		140735090	NM_032086	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	17.92	3.507097	0.64410	.	.	ENSG00000253731	ENST00000517434	T	0.52983	0.64	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.33438	U	0.004907	T	0.73613	0.3609	M	0.88979	2.995	0.38089	D	0.936901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.81571	-0.0872	10	0.87932	D	0	.	15.6084	0.76692	1.0:0.0:0.0:0.0	.	419;419	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	I	419	ENSP00000429601:N419I	ENSP00000429601:N419I	N	+	2	0	PCDHGA6	140735090	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.327000	0.79147	2.326000	0.78906	0.533000	0.62120	AAC		0.453	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
TRIO	7204	broad.mit.edu	37	5	14363841	14363841	+	Splice_Site	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:14363841A>G	ENST00000344204.4	+	14	2416	c.2392A>G	c.(2392-2394)Att>Gtt	p.I798V	TRIO_ENST00000509967.2_Splice_Site_p.I749V|TRIO_ENST00000537187.1_Splice_Site_p.I798V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	798					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I798V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTCTTTCAGATTATCTCAGA	0.438																																					p.I798V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2392G	5						.						82.0	85.0	84.0					5																	14363841		2203	4300	6503	14416841	SO:0001630	splice_region_variant	7204	exon14			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2392-1A>G	5.37:g.14363841A>G			14416841	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	5.528	0.282305	0.10458	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.33654	1.4;1.4;1.4	5.03	5.03	0.67393	.	0.050416	0.85682	D	0.000000	T	0.11281	0.0275	N	0.00399	-1.545	0.52099	D	0.999949	B;B;B	0.15141	0.001;0.001;0.012	B;B;B	0.13407	0.003;0.009;0.004	T	0.19712	-1.0297	9	.	.	.	.	14.7897	0.69830	1.0:0.0:0.0:0.0	.	749;798;798	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	V	798;798;749;485	ENSP00000339299:I798V;ENSP00000446348:I798V;ENSP00000445592:I749V	.	I	+	1	0	TRIO	14416841	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.023000	0.64084	1.908000	0.55244	0.533000	0.62120	ATT		0.438	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Missense_Mutation
PCDHGC4	56098	broad.mit.edu	37	5	140865135	140865135	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:140865135G>A	ENST00000306593.1	+	1	395	c.395G>A	c.(394-396)cGt>cAt	p.R132H	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	132	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.R132H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCCCCCCGTTTTCCGCGG	0.562																																					p.R132H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395A	5						.						71.0	74.0	73.0					5																	140865135		2203	4300	6503	140845319	SO:0001583	missense	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.395G>A	5.37:g.140865135G>A	ENSP00000306918:p.Arg132His		140845319	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483220	0.26598	.	.	ENSG00000242419	ENST00000306593	T	0.20738	2.05	5.0	4.12	0.48240	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.07369	0.0186	N	0.11364	0.135	0.09310	N	1	P;P	0.41366	0.747;0.567	B;B	0.25614	0.057;0.062	T	0.13629	-1.0502	9	0.34782	T	0.22	.	3.9135	0.09213	0.0776:0.1312:0.3934:0.3978	.	132;132	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	H	132	ENSP00000306918:R132H	ENSP00000306918:R132H	R	+	2	0	PCDHGC4	140845319	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.355000	0.20163	1.307000	0.44944	0.561000	0.74099	CGT		0.562	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
ABLIM3	22885	broad.mit.edu	37	5	148612863	148612863	+	Splice_Site	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:148612863C>T	ENST00000506113.1	+	9	1370	c.888C>T	c.(886-888)tgC>tgT	p.C296C	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Splice_Site_p.C296C|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Splice_Site_p.C296C|ABLIM3_ENST00000508983.1_Splice_Site_p.C296C|ABLIM3_ENST00000504238.1_Splice_Site_p.C296C|ABLIM3_ENST00000356541.3_Splice_Site_p.C296C			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	296					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.C296C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTCATCTGCGTATGTATCA	0.468																																					p.C296C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C888T	5						.						164.0	154.0	157.0					5																	148612863		2203	4300	6503	148593056	SO:0001630	splice_region_variant	22885	exon10			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.888+1C>T	5.37:g.148612863C>T			148593056	NM_014945	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	CCDS4294.1																																																																																				0.468	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	Silent
SLC26A2	1836	broad.mit.edu	37	5	149360151	149360151	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:149360151C>T	ENST00000286298.4	+	3	1263	c.995C>T	c.(994-996)cCg>cTg	p.P332L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	332					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.P332L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTTAAGGCACCGATTCCTATT	0.383																																					p.P332L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C995T	5						.						106.0	95.0	99.0					5																	149360151		2203	4300	6503	149340344	SO:0001583	missense	1836	exon3			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.995C>T	5.37:g.149360151C>T	ENSP00000286298:p.Pro332Leu		149340344	NM_000112	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155223	0.57259	.	.	ENSG00000155850	ENST00000286298	D	0.93247	-3.19	5.6	5.6	0.85130	Sulphate transporter (1);	0.049396	0.85682	D	0.000000	D	0.97757	0.9264	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98431	1.0582	10	0.87932	D	0	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	332	P50443	S26A2_HUMAN	L	332	ENSP00000286298:P332L	ENSP00000286298:P332L	P	+	2	0	SLC26A2	149340344	1.000000	0.71417	0.968000	0.41197	0.262000	0.26303	7.770000	0.85390	2.626000	0.88956	0.650000	0.86243	CCG		0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
TNIP1	10318	broad.mit.edu	37	5	150439898	150439898	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:150439898C>T	ENST00000389378.2	-	5	1004	c.416G>A	c.(415-417)aGc>aAc	p.S139N	TNIP1_ENST00000521591.1_Missense_Mutation_p.S139N|TNIP1_ENST00000522226.1_Missense_Mutation_p.S139N|TNIP1_ENST00000520931.1_Missense_Mutation_p.S86N|TNIP1_ENST00000523200.1_Missense_Mutation_p.S139N|TNIP1_ENST00000315050.7_Missense_Mutation_p.S139N|TNIP1_ENST00000524280.1_Missense_Mutation_p.S139N|TNIP1_ENST00000518977.1_Missense_Mutation_p.S139N|TNIP1_ENST00000523338.1_Missense_Mutation_p.S139N	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	139	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.S139N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCATGGCTGCTGCTCTCTGG	0.557																																					p.S139N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	5						.						84.0	79.0	81.0					5																	150439898		2203	4300	6503	150420091	SO:0001583	missense	10318	exon5			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.416G>A	5.37:g.150439898C>T	ENSP00000374029:p.Ser139Asn		150420091	NM_006058	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152713	0.21371	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100;ENST00000520695	T;T;T;T;T;T;T;T;T;T;T	0.47177	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.74;2.74;2.52;0.85	5.24	5.24	0.73138	.	0.963371	0.08653	N	0.913737	T	0.41396	0.1157	L	0.43152	1.355	0.09310	N	1	B;B;P;B;B;B;B	0.34724	0.328;0.216;0.465;0.328;0.098;0.191;0.196	B;B;B;B;B;B;B	0.31101	0.079;0.115;0.124;0.085;0.079;0.075;0.116	T	0.25779	-1.0122	10	0.12766	T	0.61	-2.4065	15.9161	0.79521	0.0:1.0:0.0:0.0	.	139;93;93;139;139;139;139	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	N	86;139;139;139;96;96;101;139;139;139;139;139;96;86;139	ENSP00000429891:S86N;ENSP00000374029:S139N;ENSP00000317891:S139N;ENSP00000428243:S139N;ENSP00000428187:S139N;ENSP00000430760:S139N;ENSP00000430971:S139N;ENSP00000429912:S139N;ENSP00000431105:S139N;ENSP00000428487:S86N;ENSP00000430279:S139N	ENSP00000317891:S139N	S	-	2	0	TNIP1	150420091	0.004000	0.15560	0.011000	0.14972	0.053000	0.15095	1.557000	0.36299	2.595000	0.87683	0.655000	0.94253	AGC		0.557	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058	
TENM2	57451	broad.mit.edu	37	5	167489119	167489119	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:167489119G>A	ENST00000518659.1	+	7	1403	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	TENM2_ENST00000520394.1_Missense_Mutation_p.R223Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R288Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R455Q|TENM2_ENST00000519204.1_Missense_Mutation_p.R334Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	455					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.R288Q(1)									GAAGTTGGTCGGCGGGTAACA	0.463																																					p.R455Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1364A	5						.						81.0	84.0	83.0					5																	167489119		1851	4098	5949	167421697	SO:0001583	missense	57451	exon7			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.1364G>A	5.37:g.167489119G>A	ENSP00000429430:p.Arg455Gln		167421697	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	14.00	2.404702	0.42613	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.63	5.63	0.86233	.	0.055296	0.64402	D	0.000002	T	0.15003	0.0362	L	0.28740	0.885	0.42050	D	0.991114	B;B;B	0.27656	0.184;0.098;0.068	B;B;B	0.22152	0.038;0.011;0.031	T	0.07908	-1.0748	10	0.10902	T	0.67	.	14.8382	0.70201	0.0705:0.0:0.9295:0.0	.	455;223;334	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	455;455;334;223;288	ENSP00000429430:R455Q;ENSP00000438635:R455Q;ENSP00000428964:R334Q;ENSP00000427874:R223Q;ENSP00000384905:R288Q	ENSP00000384905:R288Q	R	+	2	0	ODZ2	167421697	1.000000	0.71417	0.440000	0.26846	0.961000	0.63080	8.017000	0.88712	2.644000	0.89710	0.655000	0.94253	CGG		0.463	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
DDX41	51428	broad.mit.edu	37	5	176943365	176943365	+	Missense_Mutation	SNP	C	C	A	rs147065982		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:176943365C>A	ENST00000507955.1	-	3	745	c.222G>T	c.(220-222)gaG>gaT	p.E74D	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	74					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E74D(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGATGTCGTCCTCATCTCCCC	0.632																																					p.E74D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G222T	5						.						123.0	114.0	117.0					5																	176943365		2203	4300	6503	176875971	SO:0001583	missense	51428	exon3			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.222G>T	5.37:g.176943365C>A	ENSP00000422753:p.Glu74Asp		176875971	NM_016222	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	De_novo_Start_OutOfFrame	SNP	ENST00000507955.1	37	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412670	0.42817	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28069	1.63;1.65	5.38	3.25	0.37280	.	0.306937	0.34802	N	0.003666	T	0.15219	0.0367	N	0.11427	0.14	0.58432	D	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.06041	-1.0849	10	0.30078	T	0.28	-29.0188	9.3153	0.37930	0.0:0.6965:0.0:0.3035	.	74	Q9UJV9	DDX41_HUMAN	D	92;74	ENSP00000330349:E92D;ENSP00000422753:E74D	ENSP00000330349:E92D	E	-	3	2	DDX41	176875971	0.989000	0.36119	1.000000	0.80357	0.689000	0.40095	0.245000	0.18142	1.262000	0.44165	0.491000	0.48974	GAG		0.632	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	
TRIP13	9319	broad.mit.edu	37	5	914598	914598	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:914598C>T	ENST00000166345.3	+	11	1395	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	347					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.R347C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATATACCCTCGCCAGCAGCT	0.512																																					p.R347C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1039T	5						.						168.0	172.0	171.0					5																	914598		2203	4300	6503	967598	SO:0001583	missense	9319	exon11			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1039C>T	5.37:g.914598C>T	ENSP00000166345:p.Arg347Cys		967598	NM_004237	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	14.80	2.644155	0.47258	.	.	ENSG00000071539	ENST00000166345	D	0.94897	-3.55	5.8	4.92	0.64577	.	0.238437	0.42682	D	0.000668	D	0.92221	0.7533	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	P	0.46452	0.517	D	0.91738	0.5402	10	0.56958	D	0.05	-15.1778	11.3742	0.49717	0.1421:0.7211:0.1368:0.0	.	347	Q15645	PCH2_HUMAN	C	347	ENSP00000166345:R347C	ENSP00000166345:R347C	R	+	1	0	TRIP13	967598	0.991000	0.36638	0.874000	0.34290	0.994000	0.84299	2.907000	0.48743	1.418000	0.47098	0.655000	0.94253	CGC		0.512	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237	
ADCY2	108	broad.mit.edu	37	5	7690813	7690813	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:7690813C>T	ENST00000338316.4	+	5	819	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Silent_p.L64L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	244					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCGGCTTCTGCTCTCCCT	0.552																																					p.L244L												.	.	0			c.C730T	5						.						38.0	37.0	38.0					5																	7690813		2203	4300	6503	7743813	SO:0001819	synonymous_variant	108	exon5			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.730C>T	5.37:g.7690813C>T			7743813	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																				0.552	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
CDH18	1016	broad.mit.edu	37	5	19483505	19483505	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:19483505C>T	ENST00000507958.1	-	14	2777	c.1787G>A	c.(1786-1788)cGt>cAt	p.R596H	CDH18_ENST00000506372.1_Missense_Mutation_p.V561M|CDH18_ENST00000274170.4_Missense_Mutation_p.R596H|CDH18_ENST00000382275.1_Missense_Mutation_p.R596H|CDH18_ENST00000502796.1_Missense_Mutation_p.V560M			Q13634	CAD18_HUMAN	cadherin 18, type 2	596	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R596H(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGTCCGCACACGCCCATCTCT	0.527																																					p.R596H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1787A	5						.						79.0	69.0	73.0					5																	19483505		2203	4300	6503	19519262	SO:0001583	missense	1016	exon12			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1787G>A	5.37:g.19483505C>T	ENSP00000425093:p.Arg596His		19519262	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.750992|2.750992	0.49257|0.49257	.|.	.|.	ENSG00000145526|ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170|ENST00000506372;ENST00000502796;ENST00000515257	T;T;T|T;T;T	0.59638|0.61158	0.25;0.25;0.25|0.13;0.13;0.43	5.54|5.54	5.54|5.54	0.83059|0.83059	Cadherin (2);|.	0.129768|.	0.53938|.	D|.	0.000045|.	T|T	0.46889|0.46889	0.1416|0.1416	L|L	0.28694|0.28694	0.88|0.88	0.50632|0.50632	D|D	0.999884|0.999884	B|B	0.15719|0.28055	0.014|0.199	B|B	0.08055|0.25140	0.003|0.058	T|T	0.34725|0.34725	-0.9817|-0.9817	9|8	.|.	.|.	.|.	.|.	18.0513|18.0513	0.89349|0.89349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	596|560	Q13634|B4DHG6	CAD18_HUMAN|.	H|M	596|561;560;427	ENSP00000371710:R596H;ENSP00000425093:R596H;ENSP00000274170:R596H|ENSP00000424931:V561M;ENSP00000422138:V560M;ENSP00000427383:V427M	.|.	R|V	-|-	2|1	0|0	CDH18|CDH18	19519262|19519262	0.971000|0.971000	0.33674|0.33674	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	2.378000|2.378000	0.44309|0.44309	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.527	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH10	1008	broad.mit.edu	37	5	24488255	24488255	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:24488255T>C	ENST00000264463.4	-	12	2391	c.1884A>G	c.(1882-1884)gtA>gtG	p.V628V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	628					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V628V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAAACAGTACTACTATAACTT	0.358										HNSCC(23;0.051)																											p.V628V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1884G	5						.						33.0	35.0	34.0					5																	24488255		2200	4280	6480	24524012	SO:0001819	synonymous_variant	1008	exon12			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1884A>G	5.37:g.24488255T>C			24524012	NM_006727	Q9ULB3	Silent	SNP	ENST00000264463.4	37	CCDS3892.1																																																																																				0.358	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24537504	24537504	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:24537504C>T	ENST00000264463.4	-	3	1018	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	171	Cadherin 2. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E171K(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGACATTTCGGGAACACTA	0.333										HNSCC(23;0.051)																											p.E171K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G511A	5						.						132.0	138.0	136.0					5																	24537504		2203	4299	6502	24573261	SO:0001583	missense	1008	exon3			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.511G>A	5.37:g.24537504C>T	ENSP00000264463:p.Glu171Lys		24573261	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718251	0.68844	.	.	ENSG00000040731	ENST00000264463	T	0.76316	-1.01	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	H	0.97465	4.01	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.94891	0.8048	10	0.87932	D	0	.	18.8595	0.92266	0.0:1.0:0.0:0.0	.	171	Q9Y6N8	CAD10_HUMAN	K	171	ENSP00000264463:E171K	ENSP00000264463:E171K	E	-	1	0	CDH10	24573261	1.000000	0.71417	0.994000	0.49952	0.113000	0.19764	7.818000	0.86416	2.701000	0.92244	0.557000	0.71058	GAA		0.333	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
PDZD2	23037	broad.mit.edu	37	5	32074104	32074104	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:32074104C>T	ENST00000438447.1	+	18	3280	c.2892C>T	c.(2890-2892)tgC>tgT	p.C964C	PDZD2_ENST00000282493.3_Silent_p.C964C			O15018	PDZD2_HUMAN	PDZ domain containing 2	964					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.C964C(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						AGGTAGGCTGCTACGATGCCA	0.607																																					p.C964C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2892T	5						.						63.0	67.0	66.0					5																	32074104		2203	4300	6503	32109861	SO:0001819	synonymous_variant	23037	exon17			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.2892C>T	5.37:g.32074104C>T			32109861	NM_178140	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
ZFR	51663	broad.mit.edu	37	5	32380216	32380216	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:32380216C>T	ENST00000265069.8	-	16	2806	c.2704G>A	c.(2704-2706)Gct>Act	p.A902T	ZFR_ENST00000510369.1_5'UTR|AC008949.1_ENST00000411029.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	902	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A902T(2)|p.A902S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GCAGCCAGAGCGTCAAGGCAT	0.448																																					p.A902T												.	.	3	Substitution - Missense(3)	large_intestine(1)|lung(1)|endometrium(1)	c.G2704A	5						.						120.0	98.0	106.0					5																	32380216		2203	4300	6503	32415973	SO:0001583	missense	51663	exon16			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2704G>A	5.37:g.32380216C>T	ENSP00000265069:p.Ala902Thr		32415973	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112750	0.56398	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.46063	0.88	5.49	5.49	0.81192	DZF (2);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.83275	0.894;0.996	T	0.67055	-0.5767	10	0.40728	T	0.16	.	19.7239	0.96154	0.0:1.0:0.0:0.0	.	880;902	B5MEH6;Q96KR1	.;ZFR_HUMAN	T	902;880	ENSP00000265069:A902T	ENSP00000265069:A902T	A	-	1	0	ZFR	32415973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.869000	0.69613	2.712000	0.92718	0.585000	0.79938	GCT		0.448	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
ADAMTS12	81792	broad.mit.edu	37	5	33588875	33588875	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:33588875G>A	ENST00000504830.1	-	18	3029	c.2694C>T	c.(2692-2694)tgC>tgT	p.C898C	ADAMTS12_ENST00000352040.3_Silent_p.C813C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	898	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C898C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGTGGGGCCCGCATGTCGCCG	0.592										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C898C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2694T	5						.						82.0	76.0	78.0					5																	33588875		2203	4300	6503	33624632	SO:0001819	synonymous_variant	81792	exon18			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2694C>T	5.37:g.33588875G>A		841	33624632	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.592	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33624410	33624410	+	Missense_Mutation	SNP	C	C	T	rs201371361		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:33624410C>T	ENST00000504830.1	-	14	2404	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	690	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R690H(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACCGCAGCGATCCTCGGT	0.502										HNSCC(64;0.19)																											p.R690H												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G2069A	5						.						103.0	81.0	88.0					5																	33624410		2203	4300	6503	33660167	SO:0001583	missense	81792	exon14			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2069G>A	5.37:g.33624410C>T	ENSP00000422554:p.Arg690His		33660167	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624201	0.66901	.	.	ENSG00000151388	ENST00000504830	T	0.66815	-0.23	5.87	5.87	0.94306	.	0.099482	0.64402	D	0.000001	T	0.65375	0.2685	M	0.70275	2.135	0.80722	D	1	P	0.46512	0.879	B	0.38880	0.284	T	0.71873	-0.4461	10	0.87932	D	0	.	14.1972	0.65679	0.0:0.9232:0.0:0.0768	.	690	P58397	ATS12_HUMAN	H	690	ENSP00000422554:R690H	ENSP00000422554:R690H	R	-	2	0	ADAMTS12	33660167	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.043000	0.49823	2.941000	0.99782	0.655000	0.94253	CGC		0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
UGT3A1	133688	broad.mit.edu	37	5	35955904	35955904	+	Missense_Mutation	SNP	G	G	A	rs201810712		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:35955904G>A	ENST00000274278.3	-	6	1495	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	UGT3A1_ENST00000507113.1_Missense_Mutation_p.R346C|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R380C|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	380						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.R380C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACACCATGACGGATGGCCTCC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21313	0.0		0.0	False		,,,				2504	0.0				p.R380C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1138T	5						.						150.0	135.0	140.0					5																	35955904		2203	4300	6503	35991661	SO:0001583	missense	133688	exon6				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1138C>T	5.37:g.35955904G>A	ENSP00000274278:p.Arg380Cys		35991661	NM_152404	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	12.55	1.971582	0.34754	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.61859	0.07;0.07;0.07	4.12	-1.23	0.09465	.	0.415474	0.21401	N	0.075157	T	0.37046	0.0989	N	0.02213	-0.635	0.33212	D	0.553523	D;D;D	0.69078	0.997;0.99;0.981	P;B;B	0.59703	0.862;0.396;0.308	T	0.49194	-0.8965	10	0.20046	T	0.44	.	5.7572	0.18180	0.5032:0.1411:0.3557:0.0	.	346;380;380	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	C	380;380;346	ENSP00000274278:R380C;ENSP00000427079:R380C;ENSP00000426100:R346C	ENSP00000274278:R380C	R	-	1	0	UGT3A1	35991661	1.000000	0.71417	0.002000	0.10522	0.049000	0.14656	2.223000	0.42936	-0.248000	0.09583	-0.362000	0.07510	CGT		0.493	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
NIPBL	25836	broad.mit.edu	37	5	37001175	37001175	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:37001175C>T	ENST00000282516.8	+	14	4158	c.3659C>T	c.(3658-3660)gCg>gTg	p.A1220V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1220V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1220					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A1220V(4)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATTTTACTGCGTTTGGTAAA	0.333																																					p.A1220V												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C3659T	5						.						65.0	71.0	69.0					5																	37001175		2201	4293	6494	37036932	SO:0001583	missense	25836	exon14			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3659C>T	5.37:g.37001175C>T	ENSP00000282516:p.Ala1220Val		37036932	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098459	0.56183	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93659	-3.26;-3.26	5.65	5.65	0.86999	.	0.055752	0.64402	D	0.000001	D	0.90508	0.7026	L	0.47716	1.5	0.44834	D	0.997846	B;B	0.19706	0.023;0.038	B;B	0.15870	0.004;0.014	D	0.86324	0.1694	10	0.32370	T	0.25	.	16.0229	0.80512	0.0:0.8657:0.1343:0.0	.	1220;1220	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	1220	ENSP00000282516:A1220V;ENSP00000406266:A1220V	ENSP00000282516:A1220V	A	+	2	0	NIPBL	37036932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.364000	0.59479	2.646000	0.89796	0.655000	0.94253	GCG		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37153990	37153990	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:37153990G>T	ENST00000508244.1	-	40	8156	c.8063C>A	c.(8062-8064)cCt>cAt	p.P2688H	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2688H|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1586H			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2688						integral component of membrane (GO:0016021)		p.P1586H(1)|p.P2688H(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)			GCTTGGTGCAGGGCAAGCTGC	0.463																																					p.P2688H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8063A	5						.						95.0	93.0	94.0					5																	37153990		2203	4300	6503	37189747	SO:0001583	missense	65250	exon41				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.8063C>A	5.37:g.37153990G>T	ENSP00000421690:p.Pro2688His		37189747	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824243	0.71143	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.25085	1.85;1.85;1.82;1.82	5.41	4.54	0.55810	.	0.000000	0.52532	D	0.000074	T	0.41050	0.1142	L	0.48642	1.525	0.09310	N	1	D;D	0.69078	0.992;0.997	P;D	0.63877	0.875;0.919	T	0.23940	-1.0174	10	0.72032	D	0.01	.	13.2633	0.60117	0.0:0.1593:0.8407:0.0	.	2688;1586	E9PH94;Q9H799	.;CE042_HUMAN	H	2688;2688;1586;1754;1622	ENSP00000421690:P2688H;ENSP00000389014:P2688H;ENSP00000274258:P1586H;ENSP00000424223:P1754H	ENSP00000274258:P1586H	P	-	2	0	C5orf42	37189747	0.062000	0.20869	0.040000	0.18447	0.442000	0.32017	0.534000	0.23098	1.282000	0.44496	0.591000	0.81541	CCT		0.463	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C9	735	broad.mit.edu	37	5	39341378	39341378	+	Nonsense_Mutation	SNP	G	G	A	rs121909592	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:39341378G>A	ENST00000263408.4	-	4	441	c.346C>T	c.(346-348)Cga>Tga	p.R116*	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	116	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.R116*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACCGAAGTCGCATCTTTATG	0.423													G|||	15	0.00299521	0.0	0.0	5008	,	,		19624	0.0139		0.0	False		,,,				2504	0.001				p.R116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C346T	5	GRCh37	CM980287	C9	M	rs121909592	.						109.0	106.0	107.0					5																	39341378		2203	4300	6503	39377135	SO:0001587	stop_gained	735	exon4				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.346C>T	5.37:g.39341378G>A	ENSP00000263408:p.Arg116*		39377135	NM_001737		Nonsense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	16.75	3.210066	0.58343	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.14	2.06	0.26882	.	0.336561	0.29529	N	0.011897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5815	12.4808	0.55842	0.0:0.0:0.3302:0.6698	.	.	.	.	X	116	.	ENSP00000263408:R116X	R	-	1	2	C9	39377135	0.000000	0.05858	0.275000	0.24674	0.539000	0.34962	0.481000	0.22260	0.495000	0.27882	-0.309000	0.09137	CGA		0.423	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
GHR	2690	broad.mit.edu	37	5	42719202	42719202	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:42719202C>G	ENST00000230882.4	+	10	1783	c.1593C>G	c.(1591-1593)gaC>gaG	p.D531E	GHR_ENST00000357703.3_Missense_Mutation_p.D509E|GHR_ENST00000537449.1_Missense_Mutation_p.D344E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	531					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.D531E(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCTTATGGACAATGCCTACT	0.493																																					p.D531E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1593G	5						.						91.0	82.0	85.0					5																	42719202		2203	4300	6503	42754959	SO:0001583	missense	2690	exon10				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1593C>G	5.37:g.42719202C>G	ENSP00000230882:p.Asp531Glu		42754959	NM_000163	Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515195	0.64634	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.36520	1.25;1.25;1.25	6.08	6.08	0.98989	.	0.124191	0.64402	D	0.000001	T	0.73697	0.3620	H	0.95328	3.655	0.54753	D	0.999984	D	0.76494	0.999	D	0.79108	0.992	T	0.79642	-0.1718	10	0.59425	D	0.04	-15.5929	20.6721	0.99693	0.0:1.0:0.0:0.0	.	531	P10912	GHR_HUMAN	E	531;509;344	ENSP00000230882:D531E;ENSP00000350335:D509E;ENSP00000442206:D344E	ENSP00000230882:D531E	D	+	3	2	GHR	42754959	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	4.394000	0.59671	2.894000	0.99253	0.591000	0.81541	GAC		0.493	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163	
NIM1K	167359	broad.mit.edu	37	5	43277253	43277253	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:43277253C>A	ENST00000512796.1	+	3	1886	c.387C>A	c.(385-387)caC>caA	p.H129Q	NIM1_ENST00000326035.2_Missense_Mutation_p.H129Q			Q8IY84	NIM1_HUMAN		129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.H129Q(1)									AAAAGCTGCACCATCCCAACA	0.498																																					p.H129Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C387A	5						.						105.0	103.0	103.0					5																	43277253		2203	4300	6503	43313010	SO:0001583	missense	167359	exon3																														ENST00000512796.1:c.387C>A	5.37:g.43277253C>A	ENSP00000420849:p.His129Gln		43313010	NM_153361	B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754780	0.69648	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.23754	1.89;1.89	5.62	1.77	0.24775	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	0.28366	0.0701	N	0.22421	0.69	0.80722	D	1	P	0.44776	0.843	P	0.55455	0.776	T	0.02477	-1.1153	10	0.54805	T	0.06	.	11.0995	0.48166	0.0:0.7413:0.0:0.2587	.	129	Q8IY84	NIM1_HUMAN	Q	129	ENSP00000313572:H129Q;ENSP00000420849:H129Q	ENSP00000313572:H129Q	H	+	3	2	AC114947.1	43313010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.339000	0.33885	0.304000	0.22809	0.555000	0.69702	CAC		0.498	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
ACTBL2	345651	broad.mit.edu	37	5	56777849	56777849	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:56777849A>G	ENST00000423391.1	-	1	787	c.686T>C	c.(685-687)gTc>gCc	p.V229A	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	229						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V229A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGCTGCCCTGACCATCTCCTG	0.552																																					p.V229A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T686C	5						.						87.0	75.0	79.0					5																	56777849		2203	4300	6503	56813606	SO:0001583	missense	345651	exon1				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.686T>C	5.37:g.56777849A>G	ENSP00000416706:p.Val229Ala		56813606	NM_001017992	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	A	1.469	-0.560269	0.03939	.	.	ENSG00000169067	ENST00000423391	D	0.94046	-3.34	4.91	-3.6	0.04570	.	1.086400	0.07071	N	0.835414	T	0.74366	0.3707	N	0.00335	-1.625	0.27943	N	0.937447	B	0.02656	0.0	B	0.04013	0.001	T	0.66248	-0.5971	10	0.87932	D	0	.	6.2706	0.20953	0.2513:0.3093:0.4395:0.0	.	229	Q562R1	ACTBL_HUMAN	A	229	ENSP00000416706:V229A	ENSP00000416706:V229A	V	-	2	0	ACTBL2	56813606	0.936000	0.31750	0.037000	0.18230	0.146000	0.21551	0.413000	0.21148	-0.507000	0.06549	-0.899000	0.02877	GTC		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
MAST4	375449	broad.mit.edu	37	5	66460340	66460340	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:66460340A>C	ENST00000403625.2	+	29	5628	c.5333A>C	c.(5332-5334)gAg>gCg	p.E1778A	MAST4_ENST00000404260.3_Missense_Mutation_p.E1781A|MAST4_ENST00000261569.7_Missense_Mutation_p.E1584A|MAST4_ENST00000403666.1_Missense_Mutation_p.E1589A|MAST4_ENST00000405643.1_Missense_Mutation_p.E1599A	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1781						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E1781A(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTTGCTCCTGAGTCCCCTGTT	0.572																																					p.E1589A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4766C	5						.						88.0	92.0	91.0					5																	66460340		1892	4125	6017	66496096	SO:0001583	missense	375449	exon28			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5333A>C	5.37:g.66460340A>C	ENSP00000385727:p.Glu1778Ala		66496096	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.4|21.4	4.148490|4.148490	0.78001|0.78001	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.72942|.	-0.69;-0.69;-0.7;-0.7;-0.67|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.242329|.	0.29822|.	N|.	0.011101|.	T|.	0.56673|.	0.2001|.	L|L	0.34521|0.34521	1.04|1.04	0.37014|0.37014	D|D	0.895894|0.895894	D;D|.	0.65815|.	0.991;0.995|.	P;P|.	0.59643|.	0.73;0.861|.	T|.	0.59974|.	-0.7353|.	10|.	0.49607|.	T|.	0.09|.	-31.7645|-31.7645	15.3093|15.3093	0.74019|0.74019	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1781;1589|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	A|C	1781;1778;1589;1599;1599;1584|834	ENSP00000385048:E1781A;ENSP00000385727:E1778A;ENSP00000384313:E1589A;ENSP00000384099:E1599A;ENSP00000261569:E1584A|.	ENSP00000261569:E1584A|.	E|X	+|+	2|3	0|0	MAST4|MAST4	66496096|66496096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.636000|8.636000	0.91010|0.91010	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.572	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
CDK7	1022	broad.mit.edu	37	5	68531247	68531247	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:68531247T>C	ENST00000256443.3	+	2	196	c.93T>C	c.(91-93)gaT>gaC	p.D31D	CDK7_ENST00000514676.1_Silent_p.D31D|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)	p.D31D(1)		endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AGGCCAGAGATAAGAACACCA	0.328								Nucleotide excision repair (NER)																													p.D31D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T93C	5						.						129.0	142.0	138.0					5																	68531247		2203	4300	6503	68567003	SO:0001819	synonymous_variant	1022	exon2				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.93T>C	5.37:g.68531247T>C			68567003	NM_001799	Q9BS60|Q9UE19	Silent	SNP	ENST00000256443.3	37	CCDS3999.1																																																																																				0.328	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799	
BHMT2	23743	broad.mit.edu	37	5	78379052	78379052	+	Silent	SNP	C	C	T	rs151238476		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:78379052C>T	ENST00000255192.3	+	6	702	c.636C>T	c.(634-636)ccC>ccT	p.P212P	BHMT2_ENST00000521567.1_Silent_p.P148P|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	212	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.P212P(2)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GCTTTGGGCCCGACACCAGCT	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.0				p.P148P												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C444T	5						.	C	,	16,4390	23.3+/-48.9	0,16,2187	53.0	52.0	52.0		444,636	-3.8	0.0	5	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BHMT2	NM_001178005.1,NM_017614.4	,	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	,	148/300,212/364	78379052	16,12990	2203	4300	6503	78414808	SO:0001819	synonymous_variant	23743	exon5				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.636C>T	5.37:g.78379052C>T			78414808	NM_001178005	B7Z516|Q9NXX7	Silent	SNP	ENST00000255192.3	37	CCDS4045.1																																																																																				0.483	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614	
CMYA5	202333	broad.mit.edu	37	5	79028224	79028224	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:79028224T>C	ENST00000446378.2	+	2	3667	c.3636T>C	c.(3634-3636)gaT>gaC	p.D1212D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1212					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.D1212D(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGTGCCTGATTCTCAAGAAG	0.423																																					p.D1212D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3636C	5						.						50.0	48.0	49.0					5																	79028224		1897	4129	6026	79063980	SO:0001819	synonymous_variant	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3636T>C	5.37:g.79028224T>C			79063980	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
HAPLN1	1404	broad.mit.edu	37	5	82940452	82940452	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:82940452G>A	ENST00000274341.4	-	4	1355	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	169	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.R169C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AGATTGTAGCGCCCCAGTCGT	0.552																																					p.R169C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C505T	5						.						34.0	32.0	33.0					5																	82940452		2203	4300	6503	82976208	SO:0001583	missense	1404	exon4				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.505C>T	5.37:g.82940452G>A	ENSP00000274341:p.Arg169Cys		82976208	NM_001884	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766714	0.90020	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.8	4.92	0.64577	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71922	-0.4446	10	0.87932	D	0	.	16.1326	0.81454	0.0:0.0:0.8652:0.1348	.	169	P10915	HPLN1_HUMAN	C	169;169;169;168	ENSP00000274341:R169C;ENSP00000422592:R169C;ENSP00000421341:R169C;ENSP00000426610:R168C	ENSP00000274341:R169C	R	-	1	0	HAPLN1	82976208	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.616000	0.83018	1.412000	0.46977	0.650000	0.86243	CGC		0.552	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884	
EDIL3	10085	broad.mit.edu	37	5	83476215	83476215	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:83476215C>T	ENST00000296591.5	-	4	769	c.351G>A	c.(349-351)caG>caA	p.Q117Q	EDIL3_ENST00000380138.3_Silent_p.Q107Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	117	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.Q117Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ACTTACTGTGCTGACAGTGAA	0.348																																					p.Q117Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G351A	5						.						88.0	81.0	84.0					5																	83476215		2203	4300	6503	83511971	SO:0001819	synonymous_variant	10085	exon4			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.351G>A	5.37:g.83476215C>T			83511971	NM_005711	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	CCDS4062.1																																																																																				0.348	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
BTNL8	79908	broad.mit.edu	37	5	180335598	180335598	+	Missense_Mutation	SNP	T	T	G	rs201214790	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr5:180335598T>G	ENST00000340184.4	+	2	268	c.62T>G	c.(61-63)gTg>gGg	p.V21G	BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.V21G|BTNL8_ENST00000231229.4_Missense_Mutation_p.V21G|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000533815.2_5'Flank|Y_RNA_ENST00000410920.1_RNA	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	21	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.V21G(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGGCAGGTGTTTGGGCCA	0.547																																					p.V21G												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T62G	5						.						47.0	49.0	48.0					5																	180335598		2203	4300	6503	180268204	SO:0001583	missense	79908	exon2			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.62T>G	5.37:g.180335598T>G	ENSP00000342197:p.Val21Gly		180268204	NM_024850	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595570	0.46318	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.72167	-0.63;-0.63;-0.63	2.58	2.58	0.30949	Immunoglobulin V-set (1);	.	.	.	.	D	0.84866	0.5567	M	0.92923	3.36	0.09310	P	0.999999999143561	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87135	0.2199	8	0.87932	D	0	.	6.9269	0.24419	0.0:0.0:0.0:1.0	.	21;21;21	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	G	21	ENSP00000231229:V21G;ENSP00000342197:V21G;ENSP00000424585:V21G	ENSP00000231229:V21G	V	+	2	0	BTNL8	180268204	0.811000	0.29063	0.776000	0.31678	0.071000	0.16799	3.679000	0.54634	1.197000	0.43143	0.358000	0.22013	GTG		0.547	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850	
PRDM13	59336	broad.mit.edu	37	6	100056620	100056620	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:100056620C>T	ENST00000369215.4	+	2	453	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	50	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R50C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTTGCAGGTGCGCATGGTGAG	0.592																																					p.R50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	6						.						35.0	40.0	39.0					6																	100056620		2005	4167	6172	100163341	SO:0001583	missense	59336	exon2			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.148C>T	6.37:g.100056620C>T	ENSP00000358217:p.Arg50Cys		100163341	NM_021620	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200949	0.94997	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.07800	3.16;3.18	5.1	5.1	0.69264	SET domain (2);	0.000000	0.33813	U	0.004536	T	0.18676	0.0448	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00852	-1.1540	10	0.87932	D	0	-33.8215	18.1797	0.89773	0.0:1.0:0.0:0.0	.	50	Q9H4Q3	PRD13_HUMAN	C	50;60	ENSP00000358217:R50C;ENSP00000358216:R60C	ENSP00000358216:R60C	R	+	1	0	PRDM13	100163341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.393000	0.81446	0.558000	0.71614	CGC		0.592	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2		
SIM1	6492	broad.mit.edu	37	6	100838791	100838791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:100838791G>T	ENST00000369208.3	-	12	2529	c.1747C>A	c.(1747-1749)Cag>Aag	p.Q583K	SIM1_ENST00000262901.4_Missense_Mutation_p.Q583K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	583	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q583K(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTCCTTAGCTGTAATCTGTTC	0.453																																					p.Q583K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1747A	6						.						84.0	83.0	83.0					6																	100838791		2203	4300	6503	100945512	SO:0001583	missense	6492	exon11			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1747C>A	6.37:g.100838791G>T	ENSP00000358210:p.Gln583Lys		100945512	NM_005068	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117542	0.56505	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.33216	1.42;1.42	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.148755	0.64402	D	0.000007	T	0.13670	0.0331	N	0.24115	0.695	0.80722	D	1	B	0.16396	0.017	B	0.19391	0.025	T	0.07102	-1.0790	10	0.22706	T	0.39	.	20.1178	0.97943	0.0:0.0:1.0:0.0	.	583	P81133	SIM1_HUMAN	K	583	ENSP00000358210:Q583K;ENSP00000262901:Q583K	ENSP00000262901:Q583K	Q	-	1	0	SIM1	100945512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.759000	0.94783	0.557000	0.71058	CAG		0.453	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
PREP	5550	broad.mit.edu	37	6	105726246	105726246	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:105726246G>T	ENST00000369110.3	-	15	2098	c.1906C>A	c.(1906-1908)Ctc>Atc	p.L636I	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	636					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.L636I(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCAGCAGTGAGGAgcagcatg	0.532																																					p.L636I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1906A	6						.						117.0	111.0	113.0					6																	105726246		2203	4300	6503	105832939	SO:0001583	missense	5550	exon15				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1906C>A	6.37:g.105726246G>T	ENSP00000358106:p.Leu636Ile		105832939	NM_002726	Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610820	0.87258	.	.	ENSG00000085377	ENST00000369110	T	0.26660	1.72	5.88	5.88	0.94601	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	M	0.70787	2.145	0.80722	D	1	P	0.41978	0.767	P	0.54372	0.75	T	0.01413	-1.1361	10	0.22109	T	0.4	-23.4247	20.2279	0.98344	0.0:0.0:1.0:0.0	.	636	P48147	PPCE_HUMAN	I	636	ENSP00000358106:L636I	ENSP00000358106:L636I	L	-	1	0	PREP	105832939	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.304000	0.78882	2.778000	0.95560	0.655000	0.94253	CTC		0.532	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		
PREP	5550	broad.mit.edu	37	6	105729724	105729724	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:105729724C>T	ENST00000369110.3	-	14	1927	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	579					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.G579R(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCCATTACTCCAACTTGGGCA	0.438																																					p.G579R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1735A	6						.						108.0	92.0	97.0					6																	105729724		2203	4300	6503	105836417	SO:0001583	missense	5550	exon14				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1735G>A	6.37:g.105729724C>T	ENSP00000358106:p.Gly579Arg		105836417	NM_002726	Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401178	0.96030	.	.	ENSG00000085377	ENST00000369110	T	0.40476	1.03	5.7	5.7	0.88788	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87848	0.2656	10	0.87932	D	0	-13.081	19.8411	0.96685	0.0:1.0:0.0:0.0	.	579	P48147	PPCE_HUMAN	R	579	ENSP00000358106:G579R	ENSP00000358106:G579R	G	-	1	0	PREP	105836417	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.683000	0.91414	0.655000	0.94253	GGA		0.438	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		
RTN4IP1	84816	broad.mit.edu	37	6	107040099	107040099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:107040099G>A	ENST00000369063.3	-	6	1211	c.746C>T	c.(745-747)gCa>gTa	p.A249V	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	249						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.A249V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TACATCGTCTGCACCAAGCTT	0.428																																					p.A249V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746T	6						.						137.0	123.0	128.0					6																	107040099		2203	4300	6503	107146792	SO:0001583	missense	84816	exon6			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.746C>T	6.37:g.107040099G>A	ENSP00000358059:p.Ala249Val		107146792	NM_032730	Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130366	0.94473	.	.	ENSG00000130347	ENST00000369063	T	0.56103	0.48	5.94	5.94	0.96194	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.72740	-0.4202	10	0.59425	D	0.04	-26.6129	20.3658	0.98878	0.0:0.0:1.0:0.0	.	249	Q8WWV3	RT4I1_HUMAN	V	249	ENSP00000358059:A249V	ENSP00000358059:A249V	A	-	2	0	RTN4IP1	107146792	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.347000	0.97059	2.820000	0.97059	0.650000	0.86243	GCA		0.428	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1		
RSPH4A	345895	broad.mit.edu	37	6	116951637	116951637	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:116951637C>T	ENST00000229554.5	+	5	1975	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q568*|RSPH4A_ENST00000368580.4_Missense_Mutation_p.S366L	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	613					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.S613L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CGGTTATCCTCAAATCTCATT	0.413									Kartagener syndrome																												p.Q568X												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1702T	6						.						191.0	163.0	172.0					6																	116951637		2203	4300	6503	117058330	SO:0001583	missense	345895	exon4	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1838C>T	6.37:g.116951637C>T	ENSP00000229554:p.Ser613Leu		117058330	NM_001161664	B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.318618|4.318618	0.81469|0.81469	.|.	.|.	ENSG00000111834|ENSG00000111834	ENST00000368581|ENST00000229554;ENST00000447842;ENST00000368580	.|T;T	.|0.19394	.|2.15;2.15	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.196775	.|0.45867	.|D	.|0.000329	.|T	.|0.28234	.|0.0697	.|.	.|.	.|.	0.58432|0.58432	A|A	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.70935	.|0.971	.|T	.|0.02179	.|-1.1200	.|8	0.48119|0.15066	T|T	0.1|0.55	-13.2752|-13.2752	16.8765|16.8765	0.86053|0.86053	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|613	.|Q5TD94	.|RSH4A_HUMAN	X|L	568|613;408;366	.|ENSP00000229554:S613L;ENSP00000357569:S366L	ENSP00000357570:Q568X|ENSP00000229554:S613L	Q|S	+|+	1|2	0|0	RSPH4A|RSPH4A	117058330|117058330	1.000000|1.000000	0.71417|0.71417	0.743000|0.743000	0.31040|0.31040	0.064000|0.064000	0.16182|0.16182	5.698000|5.698000	0.68302|0.68302	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.413	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
GPRC6A	222545	broad.mit.edu	37	6	117116907	117116907	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:117116907T>C	ENST00000310357.3	-	5	1661	c.1640A>G	c.(1639-1641)aAc>aGc	p.N547S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.N476S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.N372S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	547					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N547S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTCAGGACAGTTCTGACATTC	0.358																																					p.N547S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1640G	6						.						210.0	185.0	194.0					6																	117116907		2203	4300	6503	117223600	SO:0001583	missense	222545	exon5			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1640A>G	6.37:g.117116907T>C	ENSP00000309493:p.Asn547Ser		117223600	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	5.835	0.338293	0.11069	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.89196	-2.48;-2.48;-2.48	4.99	-0.158	0.13383	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.976632	0.08409	N	0.950319	T	0.53400	0.1794	N	0.04260	-0.245	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.46345	-0.9198	10	0.27785	T	0.31	.	5.4684	0.16656	0.0:0.2589:0.256:0.485	.	476;372;547	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	S	547;476;372	ENSP00000309493:N547S;ENSP00000357537:N476S;ENSP00000433465:N372S	ENSP00000309493:N547S	N	-	2	0	GPRC6A	117223600	0.009000	0.17119	0.992000	0.48379	0.946000	0.59487	0.201000	0.17276	0.100000	0.17581	0.533000	0.62120	AAC		0.358	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
FAM184A	79632	broad.mit.edu	37	6	119301390	119301390	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:119301390C>A	ENST00000338891.7	-	10	2657	c.2214G>T	c.(2212-2214)gaG>gaT	p.E738D	FAM184A_ENST00000368475.4_Missense_Mutation_p.E618D|FAM184A_ENST00000521531.1_Missense_Mutation_p.E738D|FAM184A_ENST00000352896.5_Missense_Mutation_p.E618D|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	738						extracellular space (GO:0005615)		p.E738D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGATGTTGCTCCTCTAATT	0.413																																					p.E738D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2214T	6						.						154.0	142.0	146.0					6																	119301390		1902	4131	6033	119343089	SO:0001583	missense	79632	exon10			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2214G>T	6.37:g.119301390C>A	ENSP00000342604:p.Glu738Asp		119343089	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156992	0.38119	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	6.17	-4.35	0.03656	.	0.236370	0.44285	D	0.000475	T	0.12561	0.0305	L	0.47716	1.5	0.80722	D	1	B;B;B	0.34329	0.277;0.449;0.119	B;B;B	0.35688	0.121;0.208;0.174	T	0.02477	-1.1153	10	0.29301	T	0.29	-20.0379	15.9976	0.80262	0.0:0.5894:0.0:0.4106	.	738;618;738	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	D	738;618;618;738	ENSP00000342604:E738D;ENSP00000326608:E618D;ENSP00000357460:E618D;ENSP00000430442:E738D	ENSP00000342604:E738D	E	-	3	2	FAM184A	119343089	0.083000	0.21467	0.906000	0.35671	0.492000	0.33523	-0.655000	0.05348	-0.765000	0.04645	-0.345000	0.07892	GAG		0.413	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
FAM184A	79632	broad.mit.edu	37	6	119345629	119345629	+	Missense_Mutation	SNP	C	C	T	rs564860341		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:119345629C>T	ENST00000338891.7	-	2	952	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	FAM184A_ENST00000368475.4_Missense_Mutation_p.R50Q|FAM184A_ENST00000522284.1_Missense_Mutation_p.R50Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.R170Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.R50Q|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	170						extracellular space (GO:0005615)		p.R170Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCCAAAGCTCCGTAATTTTTC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20579	0.0		0.0	False		,,,				2504	0.001				p.R170Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G509A	6						.						121.0	112.0	115.0					6																	119345629		1861	4093	5954	119387328	SO:0001583	missense	79632	exon2			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.509G>A	6.37:g.119345629C>T	ENSP00000342604:p.Arg170Gln		119387328	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371780	0.24857	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.96	0.55	0.17219	.	0.317222	0.33591	N	0.004753	T	0.11110	0.0271	L	0.41573	1.285	0.39225	D	0.963574	B;B;B	0.12013	0.005;0.002;0.005	B;B;B	0.08055	0.003;0.003;0.003	T	0.09335	-1.0679	10	0.49607	T	0.09	-2.1306	11.3367	0.49509	0.0:0.6138:0.0:0.3862	.	170;50;170	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	170;50;50;170;50	ENSP00000342604:R170Q;ENSP00000326608:R50Q;ENSP00000357460:R50Q;ENSP00000430442:R170Q;ENSP00000429826:R50Q	ENSP00000342604:R170Q	R	-	2	0	FAM184A	119387328	0.855000	0.29742	0.975000	0.42487	0.192000	0.23643	1.438000	0.35002	0.132000	0.18615	0.655000	0.94253	CGG		0.428	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TBC1D32	221322	broad.mit.edu	37	6	121642940	121642940	+	Splice_Site	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:121642940G>T	ENST00000398212.2	-	2	205	c.156C>A	c.(154-156)aaC>aaA	p.N52K	TBC1D32_ENST00000275159.6_Splice_Site_p.N52K	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	52					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.N52K(1)									CAAATTCATAGCTGAAACAAA	0.318																																					p.N52K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C156A	6						.						95.0	85.0	88.0					6																	121642940		1815	4083	5898	121684639	SO:0001630	splice_region_variant	221322	exon2			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.156-1C>A	6.37:g.121642940G>T			121684639	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	4.209	0.037482	0.08148	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.23552	1.9;1.9;1.9	5.5	5.5	0.81552	.	0.108239	0.64402	D	0.000011	T	0.10852	0.0265	L	0.32530	0.975	0.47584	D	0.999462	P	0.36712	0.566	B	0.35859	0.212	T	0.06734	-1.0810	10	0.29301	T	0.29	.	13.6716	0.62430	0.0738:0.0:0.9262:0.0	.	52	Q96NH3	BROMI_HUMAN	K	52	ENSP00000275159:N52K;ENSP00000381270:N52K;ENSP00000397993:N52K	ENSP00000275159:N52K	N	-	3	2	C6orf170	121684639	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.843000	0.55865	2.608000	0.88229	0.655000	0.94253	AAC		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	Missense_Mutation
TAAR5	9038	broad.mit.edu	37	6	132910504	132910504	+	Missense_Mutation	SNP	G	G	A	rs557518982		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:132910504G>A	ENST00000258034.2	-	1	373	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	108					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.R108C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GTGTGCAGGCGGCAGAGGAAG	0.592																																					p.R108C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C322T	6						.						135.0	143.0	140.0					6																	132910504		2203	4300	6503	132952197	SO:0001583	missense	9038	exon1			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.322C>T	6.37:g.132910504G>A	ENSP00000258034:p.Arg108Cys		132952197	NM_003967	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655737	0.47467	.	.	ENSG00000135569	ENST00000258034	T	0.73363	-0.74	5.43	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.207947	0.27861	N	0.017555	T	0.73946	0.3652	M	0.88570	2.965	0.21105	N	0.99978	D	0.58970	0.984	P	0.53062	0.717	T	0.68307	-0.5443	10	0.87932	D	0	-5.5681	9.3598	0.38188	0.0739:0.0:0.4462:0.48	.	108	O14804	TAAR5_HUMAN	C	108	ENSP00000258034:R108C	ENSP00000258034:R108C	R	-	1	0	TAAR5	132952197	0.000000	0.05858	0.750000	0.31169	0.686000	0.39977	-0.173000	0.09854	0.393000	0.25203	0.655000	0.94253	CGC		0.592	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
TAAR2	9287	broad.mit.edu	37	6	132938834	132938834	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:132938834G>A	ENST00000367931.1	-	2	510	c.511C>T	c.(511-513)Cct>Tct	p.P171S	TAAR2_ENST00000275191.2_Missense_Mutation_p.P126S|TAAR2_ENST00000537809.1_Missense_Mutation_p.P126S			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	171					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.P171S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AATGCTCCAGGGACCGACCAA	0.433																																					p.P171S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C511T	6						.						61.0	60.0	60.0					6																	132938834		2203	4300	6503	132980527	SO:0001583	missense	9287	exon2			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.511C>T	6.37:g.132938834G>A	ENSP00000356908:p.Pro171Ser		132980527	NM_001033080	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227763	0.22542	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.29142	1.58;1.58;1.58	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.135373	0.51477	D	0.000092	T	0.27594	0.0678	L	0.31526	0.94	0.41774	D	0.989783	D	0.89917	1.0	D	0.97110	1.0	T	0.03945	-1.0990	10	0.10636	T	0.68	-41.0748	13.6648	0.62389	0.0703:0.0:0.9297:0.0	.	171	Q9P1P5	TAAR2_HUMAN	S	126;171;126	ENSP00000275191:P126S;ENSP00000356908:P171S;ENSP00000441263:P126S	ENSP00000275191:P126S	P	-	1	0	TAAR2	132980527	0.914000	0.31030	0.680000	0.29994	0.243000	0.25628	2.065000	0.41442	2.846000	0.97976	0.650000	0.86243	CCT		0.433	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626	
VTA1	51534	broad.mit.edu	37	6	142539670	142539670	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:142539670G>T	ENST00000367630.4	+	8	872	c.814G>T	c.(814-816)Gct>Tct	p.A272S	VTA1_ENST00000367621.1_Missense_Mutation_p.A214S|VTA1_ENST00000452973.2_Missense_Mutation_p.A187S	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	272	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.A272S(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CTTTGCTAGAGCTCAGAAGTA	0.408																																					p.A272S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814T	6						.						80.0	79.0	79.0					6																	142539670		2203	4300	6503	142581363	SO:0001583	missense	51534	exon8			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.814G>T	6.37:g.142539670G>T	ENSP00000356602:p.Ala272Ser		142581363	NM_016485	B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140194	0.94560	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.57107	0.42;0.42;0.42	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77991	-0.2379	10	0.72032	D	0.01	-17.1641	20.1306	0.97998	0.0:0.0:1.0:0.0	.	187;272	E7ETQ7;Q9NP79	.;VTA1_HUMAN	S	272;214;187	ENSP00000356602:A272S;ENSP00000356593:A214S;ENSP00000395767:A187S	ENSP00000356593:A214S	A	+	1	0	VTA1	142581363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.751000	0.94390	0.655000	0.94253	GCT		0.408	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485	
GPR126	57211	broad.mit.edu	37	6	142737071	142737071	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:142737071G>A	ENST00000230173.6	+	20	3284	c.2808G>A	c.(2806-2808)ctG>ctA	p.L936L	GPR126_ENST00000367608.2_Silent_p.L908L|GPR126_ENST00000296932.8_Silent_p.L908L|GPR126_ENST00000367609.3_Silent_p.L936L	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	936					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.L936L(1)|p.L907L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTGCAGTCCTGTTGCATTTCT	0.463																																					p.L908L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2724A	6						.						217.0	209.0	211.0					6																	142737071		1978	4170	6148	142778764	SO:0001819	synonymous_variant	57211	exon19			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2808G>A	6.37:g.142737071G>A			142778764	NM_001032394	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	CCDS47490.1																																																																																				0.463	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
HIVEP2	3097	broad.mit.edu	37	6	143081722	143081722	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:143081722C>A	ENST00000367604.1	-	8	6342	c.5703G>T	c.(5701-5703)gaG>gaT	p.E1901D	HIVEP2_ENST00000367603.2_Missense_Mutation_p.E1901D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1901D			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1901	Asp/Glu-rich (acidic).				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.E1901D(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		catcTGATTCCTCAGCATCGG	0.383																																					p.E1901D	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5703T	6						.						49.0	50.0	50.0					6																	143081722		2051	4206	6257	143123415	SO:0001583	missense	3097	exon9			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5703G>T	6.37:g.143081722C>A	ENSP00000356576:p.Glu1901Asp		143123415	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	8.577	0.881429	0.17467	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03004	4.08;4.08;4.08	6.16	3.28	0.37604	.	0.189680	0.56097	D	0.000034	T	0.00906	0.0030	N	0.20986	0.625	0.41680	D	0.989285	P	0.37636	0.603	B	0.28385	0.089	T	0.62863	-0.6764	10	0.45353	T	0.12	-29.5103	7.5319	0.27687	0.0:0.6078:0.0:0.3922	.	1901	P31629	ZEP2_HUMAN	D	1901	ENSP00000356576:E1901D;ENSP00000356575:E1901D;ENSP00000012134:E1901D	ENSP00000012134:E1901D	E	-	3	2	HIVEP2	143123415	0.912000	0.30974	0.999000	0.59377	0.519000	0.34347	0.007000	0.13174	0.387000	0.25024	-0.759000	0.03464	GAG		0.383	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
UTRN	7402	broad.mit.edu	37	6	144761494	144761494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:144761494C>T	ENST00000367545.3	+	12	1399	c.1399C>T	c.(1399-1401)Caa>Taa	p.Q467*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	467	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q467*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTAGAGTTTGCAAAGTGATCT	0.343																																					p.Q467X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1399T	6						.						96.0	98.0	97.0					6																	144761494		2203	4300	6503	144803187	SO:0001587	stop_gained	7402	exon12			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1399C>T	6.37:g.144761494C>T	ENSP00000356515:p.Gln467*		144803187	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	39	7.616811	0.98393	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.51	5.51	0.81932	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	X	467	.	ENSP00000356499:Q467X	Q	+	1	0	UTRN	144803187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.441000	0.80485	2.756000	0.94617	0.650000	0.86243	CAA		0.343	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UST	10090	broad.mit.edu	37	6	149342551	149342551	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:149342551C>T	ENST00000367463.4	+	7	974	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	291					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.L291L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAAGATGTGCTGCTGTTACT	0.453																																					p.L291L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C871T	6						.						122.0	110.0	114.0					6																	149342551		2203	4300	6503	149384244	SO:0001819	synonymous_variant	10090	exon7			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.871C>T	6.37:g.149342551C>T			149384244	NM_005715	B2RCX6	Silent	SNP	ENST00000367463.4	37	CCDS5213.1																																																																																				0.453	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715	
PCMT1	5110	broad.mit.edu	37	6	150094297	150094297	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:150094297C>A	ENST00000367380.5	+	3	391	c.184C>A	c.(184-186)Cca>Aca	p.P62T	PCMT1_ENST00000544496.1_Missense_Mutation_p.P27T|PCMT1_ENST00000367378.1_Missense_Mutation_p.P120T|PCMT1_ENST00000464889.1_Missense_Mutation_p.P120T|PCMT1_ENST00000367384.2_Missense_Mutation_p.P120T	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	62					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.P62T(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AATCAGTGCTCCACACATGGT	0.303																																					p.P120T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C358A	6						.						128.0	134.0	132.0					6																	150094297		2203	4300	6503	150135990	SO:0001583	missense	5110	exon3				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.184C>A	6.37:g.150094297C>A	ENSP00000356350:p.Pro62Thr		150135990	NM_005389	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.101171	0.76983	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496;ENST00000495487	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	5.44	4.55	0.56014	.	0.049428	0.85682	N	0.000000	T	0.80031	0.4549	H	0.99299	4.505	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.972;0.995;0.999	D	0.87519	0.2445	10	0.87932	D	0	-11.9571	12.5845	0.56410	0.1667:0.8333:0.0:0.0	.	27;62;62	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	T	120;120;120;62;27;31	ENSP00000356354:P120T;ENSP00000356348:P120T;ENSP00000420813:P120T;ENSP00000356350:P62T;ENSP00000438247:P27T;ENSP00000418881:P31T	ENSP00000356348:P120T	P	+	1	0	PCMT1	150135990	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.971000	0.76105	1.248000	0.43934	0.467000	0.42956	CCA		0.303	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
PPP1R14C	81706	broad.mit.edu	37	6	150535910	150535910	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:150535910A>G	ENST00000361131.4	+	2	454	c.337A>G	c.(337-339)Att>Gtt	p.I113V		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	113					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.I113V(1)		endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGAAATTGACATTGATGATCT	0.418																																					p.I113V	Melanoma(165;1879 1941 2052 16588 48349)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A337G	6						.						124.0	125.0	125.0					6																	150535910		2203	4300	6503	150577603	SO:0001583	missense	81706	exon2			AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.337A>G	6.37:g.150535910A>G	ENSP00000355260:p.Ile113Val		150577603	NM_030949	Q5VY83|Q96BB1|Q9H277	Missense_Mutation	SNP	ENST00000361131.4	37	CCDS5226.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928831	0.34002	.	.	ENSG00000198729	ENST00000361131	T	0.52983	0.64	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.13243	0.0321	N	0.05050	-0.12	0.46317	D	0.998983	B	0.29909	0.261	B	0.28991	0.097	T	0.13710	-1.0499	10	0.14252	T	0.57	-18.1999	14.9571	0.71124	1.0:0.0:0.0:0.0	.	113	Q8TAE6	PP14C_HUMAN	V	113	ENSP00000355260:I113V	ENSP00000355260:I113V	I	+	1	0	PPP1R14C	150577603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.857000	0.75455	2.168000	0.68352	0.533000	0.62120	ATT		0.418	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949	
SYNE1	23345	broad.mit.edu	37	6	152443638	152443638	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:152443638A>G	ENST00000367255.5	-	146	26928	c.26327T>C	c.(26326-26328)cTc>cCc	p.L8776P	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8728P|ESR1_ENST00000427531.2_Intron|SYNE1_ENST00000539504.1_Missense_Mutation_p.L931P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8776P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8728P|SYNE1_ENST00000354674.4_Missense_Mutation_p.L954P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8388P|SYNE1_ENST00000356820.4_Missense_Mutation_p.L3300P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8776	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L8776P(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGTTGGAGAGGGCACAGCT	0.552										HNSCC(10;0.0054)																											p.L3300P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T9899C	6						.						121.0	103.0	109.0					6																	152443638		2203	4300	6503	152485331	SO:0001583	missense	23345	exon61			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26327T>C	6.37:g.152443638A>G	ENSP00000356224:p.Leu8776Pro		152485331	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915442	0.73098	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000354674	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.56	5.56	0.83823	Klarsicht/ANC-1/syne-1 homology (2);	0.185139	0.27100	N	0.020929	T	0.49167	0.1541	M	0.81802	2.56	0.58432	D	0.999999	D;D;D	0.63880	0.993;0.993;0.991	D;D;P	0.66196	0.942;0.942;0.904	T	0.57189	-0.7854	10	0.87932	D	0	.	15.7131	0.77646	1.0:0.0:0.0:0.0	.	8776;8776;8728	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	P	8776;931;8728;8776;8728;8388;3300;961;956;954	ENSP00000356224:L8776P;ENSP00000441052:L931P;ENSP00000396024:L8728P;ENSP00000265368:L8776P;ENSP00000390975:L8728P;ENSP00000341887:L8388P;ENSP00000349276:L3300P;ENSP00000346701:L954P	ENSP00000265368:L8776P	L	-	2	0	SYNE1	152485331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.628000	0.61282	2.114000	0.64651	0.533000	0.62120	CTC		0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SCAF8	22828	broad.mit.edu	37	6	155109034	155109034	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:155109034G>T	ENST00000367178.3	+	4	775	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	SCAF8_ENST00000367186.4_Missense_Mutation_p.D133Y|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.D67Y	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	67	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.D67Y(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTATGTTATTGACTCCATTGT	0.348																																					p.D67Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199T	6						.						140.0	133.0	135.0					6																	155109034		2203	4300	6503	155150726	SO:0001583	missense	22828	exon4			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.199G>T	6.37:g.155109034G>T	ENSP00000356146:p.Asp67Tyr		155150726	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971099	0.74246	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.63580	-0.05;-0.05;-0.05	5.27	5.27	0.74061	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.85682	U	0.000000	T	0.81138	0.4760	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84414	0.0567	10	0.87932	D	0	.	19.2563	0.93947	0.0:0.0:1.0:0.0	.	112;133;145;67	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	Y	67;67;133	ENSP00000356146:D67Y;ENSP00000413098:D67Y;ENSP00000356154:D133Y	ENSP00000356146:D67Y	D	+	1	0	SCAF8	155150726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.621000	0.88768	0.655000	0.94253	GAC		0.348	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
SCAF8	22828	broad.mit.edu	37	6	155153492	155153492	+	Missense_Mutation	SNP	C	C	T	rs552782822		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:155153492C>T	ENST00000367178.3	+	20	3355	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	SCAF8_ENST00000367186.4_Missense_Mutation_p.R993C|TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000417268.1_Missense_Mutation_p.R927C	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	927	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.R927C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GTTAGACATTCGTCCGGGACT	0.512																																					p.R927C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2779T	6						.						158.0	166.0	163.0					6																	155153492		2203	4300	6503	155195184	SO:0001583	missense	22828	exon20			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2779C>T	6.37:g.155153492C>T	ENSP00000356146:p.Arg927Cys		155195184	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035979	0.54896	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.60299	0.25;0.25;0.2	5.58	4.71	0.59529	.	0.000000	0.64402	U	0.000003	T	0.54159	0.1841	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.993	P;P;P	0.50231	0.635;0.635;0.541	T	0.62431	-0.6856	10	0.72032	D	0.01	.	16.529	0.84353	0.0:0.8692:0.1308:0.0	.	972;993;927	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	C	927;927;993	ENSP00000356146:R927C;ENSP00000413098:R927C;ENSP00000356154:R993C	ENSP00000356146:R927C	R	+	1	0	SCAF8	155195184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.238000	0.65366	1.340000	0.45581	0.655000	0.94253	CGT		0.512	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
ARID1B	57492	broad.mit.edu	37	6	157150538	157150538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:157150538C>T	ENST00000350026.5	+	2	1721	c.1720C>T	c.(1720-1722)Cag>Tag	p.Q574*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q516*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q574*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q574*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	574	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q516*(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCGGAATGCAGTACCCTCA	0.557																																					p.Q574X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1720T	6						.						43.0	40.0	41.0					6																	157150538		2203	4300	6503	157192230	SO:0001587	stop_gained	57492	exon2			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1720C>T	6.37:g.157150538C>T	ENSP00000055163:p.Gln574*		157192230	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	9.099803	0.99066	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.09	5.09	0.68999	.	0.090625	0.45361	D	0.000380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	.	.	.	X	574;574;574;516;73	.	ENSP00000275248:Q516X	Q	+	1	0	ARID1B	157192230	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.445000	0.80570	2.515000	0.84797	0.650000	0.86243	CAG		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
PARK2	5071	broad.mit.edu	37	6	162864383	162864383	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:162864383T>G	ENST00000366898.1	-	2	232	c.130A>C	c.(130-132)Att>Ctt	p.I44L	PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.I44L|PARK2_ENST00000366897.1_Missense_Mutation_p.I44L|PARK2_ENST00000366892.1_Missense_Mutation_p.I44L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	44	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.I44L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCTGCGAAAATCACACGCAAC	0.587																																					p.I44L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A130C	6						.						147.0	125.0	133.0					6																	162864383		2203	4300	6503	162784373	SO:0001583	missense	5071	exon2				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.130A>C	6.37:g.162864383T>G	ENSP00000355865:p.Ile44Leu		162784373	NM_004562	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233503	0.58886	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (2);	0.060960	0.64402	D	0.000005	D	0.82926	0.5143	L	0.58510	1.815	0.42906	D	0.994249	D;P;B;B	0.65815	0.995;0.756;0.093;0.053	D;P;B;B	0.77557	0.99;0.755;0.066;0.085	D	0.83768	0.0218	10	0.49607	T	0.09	.	16.1307	0.81436	0.0:0.0:0.0:1.0	.	44;44;44;44	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	L	44;44;44;44;43	ENSP00000355865:I44L;ENSP00000355863:I44L;ENSP00000355862:I44L;ENSP00000355858:I44L	ENSP00000355858:I44L	I	-	1	0	PARK2	162784373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.231000	0.72307	2.263000	0.75096	0.533000	0.62120	ATT		0.587	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
QKI	9444	broad.mit.edu	37	6	163876337	163876337	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:163876337T>C	ENST00000361752.3	+	2	720	c.169T>C	c.(169-171)Tac>Cac	p.Y57H	QKI_ENST00000392127.2_Missense_Mutation_p.Y57H|QKI_ENST00000361195.2_Missense_Mutation_p.Y57H|QKI_ENST00000453779.2_Missense_Mutation_p.Y57H|QKI_ENST00000424802.3_Missense_Mutation_p.Y57H|QKI_ENST00000275262.7_Missense_Mutation_p.Y57H	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	57					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y57H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GAAAGACATGTACAATGACAC	0.358																																					p.Y57H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T169C	6						.						132.0	127.0	129.0					6																	163876337		2203	4300	6503	163796327	SO:0001583	missense	9444	exon2			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.169T>C	6.37:g.163876337T>C	ENSP00000355094:p.Tyr57His		163796327	NM_206855	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621173	0.87460	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000537124;ENST00000544823	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.99;0.998;0.994;0.994;0.998	D;P;D;D;D;D	0.69479	0.916;0.827;0.964;0.916;0.916;0.964	T	0.71686	-0.4518	9	0.87932	D	0	-0.9535	16.6245	0.84952	0.0:0.0:0.0:1.0	.	57;57;57;57;57;57	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	H	57;57;57;57;57;57;2;2;2;2	.	ENSP00000275262:Y57H	Y	+	1	0	QKI	163796327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.675000	0.84002	2.323000	0.78572	0.528000	0.53228	TAC		0.358	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
QKI	9444	broad.mit.edu	37	6	163899878	163899878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:163899878G>A	ENST00000361752.3	+	3	903	c.352G>A	c.(352-354)Gga>Aga	p.G118R	QKI_ENST00000392127.2_Missense_Mutation_p.G118R|QKI_ENST00000361195.2_Missense_Mutation_p.G118R|QKI_ENST00000453779.2_Missense_Mutation_p.G118R|QKI_ENST00000424802.3_Missense_Mutation_p.G118R|QKI_ENST00000275262.7_Missense_Mutation_p.G118R	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	118	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G118R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGCAGAAACCGGATGTAAAAT	0.358																																					p.G118R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352A	6						.						90.0	91.0	90.0					6																	163899878		2203	4300	6503	163819868	SO:0001583	missense	9444	exon3			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.352G>A	6.37:g.163899878G>A	ENSP00000355094:p.Gly118Arg		163819868	NM_206855	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019331	0.93462	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.45	5.45	0.79879	K Homology (1);K Homology, type 1, subgroup (1);	0.101615	0.64402	D	0.000002	T	0.72811	0.3507	M	0.90922	3.16	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	0.81914	0.995;0.985;0.993;0.995;0.976;0.993	T	0.79266	-0.1874	10	0.72032	D	0.01	-3.0141	19.2968	0.94126	0.0:0.0:1.0:0.0	.	118;118;118;118;118;118	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	R	118;118;118;118;118;118;63;63;63	ENSP00000408775:G118R;ENSP00000275262:G118R;ENSP00000375973:G118R;ENSP00000355094:G118R;ENSP00000354867:G118R;ENSP00000408382:G118R;ENSP00000443690:G63R;ENSP00000440991:G63R;ENSP00000440599:G63R	ENSP00000275262:G118R	G	+	1	0	QKI	163819868	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.579000	0.82511	2.561000	0.86390	0.591000	0.81541	GGA		0.358	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
UNC93A	54346	broad.mit.edu	37	6	167721300	167721300	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:167721300T>C	ENST00000230256.3	+	7	1185	c.1010T>C	c.(1009-1011)cTa>cCa	p.L337P	UNC93A_ENST00000366829.2_Missense_Mutation_p.L295P	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L337P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGATTGCCCTACTGCTGTGG	0.617																																					p.L295P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T884C	6						.						154.0	116.0	129.0					6																	167721300		2203	4300	6503	167641290	SO:0001583	missense	54346	exon6			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1010T>C	6.37:g.167721300T>C	ENSP00000230256:p.Leu337Pro		167641290	NM_001143947	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737377	0.49045	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;D	0.83992	1.12;-1.79	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.219359	0.39544	N	0.001321	D	0.89210	0.6650	M	0.88031	2.925	0.80722	D	1	D;D	0.63880	0.993;0.972	D;D	0.63033	0.91;0.91	D	0.91201	0.4991	10	0.72032	D	0.01	-16.1675	12.7486	0.57296	0.0:0.0:0.0:1.0	.	295;337	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	P	337;295	ENSP00000230256:L337P;ENSP00000355794:L295P	ENSP00000230256:L337P	L	+	2	0	UNC93A	167641290	0.998000	0.40836	0.888000	0.34837	0.073000	0.16967	6.668000	0.74457	1.692000	0.51112	0.460000	0.39030	CTA		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
MLLT4	4301	broad.mit.edu	37	6	168344155	168344155	+	Splice_Site	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:168344155G>T	ENST00000447894.2	+	24	3218	c.3218G>T	c.(3217-3219)aGg>aTg	p.R1073M	MLLT4_ENST00000392108.3_Splice_Site_p.R1073M|MLLT4_ENST00000366806.2_Splice_Site_p.R1073M|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392112.1_Splice_Site_p.R1056M|MLLT4_ENST00000351017.4_Splice_Site_p.R1080M|MLLT4_ENST00000400822.3_Splice_Site_p.R1072M|MLLT4_ENST00000344191.4_Splice_Site_p.R1073M			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1073	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1057M(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCTCAGGAAAGGTATCATTGA	0.408			T	MLL	AL																																p.R1073M			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3218T	6						.						217.0	204.0	208.0					6																	168344155		2203	4300	6503	168087004	SO:0001630	splice_region_variant	4301	exon24			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3218+1G>T	6.37:g.168344155G>T			168087004	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	G	27.6	4.843037	0.91197	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.18	5.18	0.71444	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.984;0.976	T	0.68977	-0.5267	10	0.87932	D	0	1.1897	18.7142	0.91670	0.0:0.0:1.0:0.0	.	1073;1072;1073;1057	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	M	1073;1080;1073;1073;1056;1073;1072;1073	ENSP00000341118:R1073M;ENSP00000252692:R1080M;ENSP00000375956:R1073M;ENSP00000355771:R1073M;ENSP00000375960:R1056M;ENSP00000383623:R1072M;ENSP00000404595:R1073M	ENSP00000345834:R1073M	R	+	2	0	MLLT4	168087004	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.148000	0.94652	2.411000	0.81874	0.650000	0.86243	AGG		0.408	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Missense_Mutation
CAP2	10486	broad.mit.edu	37	6	17556624	17556624	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:17556624C>T	ENST00000229922.2	+	13	1917	c.1385C>T	c.(1384-1386)gCa>gTa	p.A462V	CAP2_ENST00000378990.2_Missense_Mutation_p.A436V|CAP2_ENST00000489374.1_Missense_Mutation_p.A350V|CAP2_ENST00000493172.1_Missense_Mutation_p.A202V|CAP2_ENST00000465994.1_Missense_Mutation_p.A398V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	462					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.A462V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTCAAGACAGCATGGGATGGA	0.408																																					p.A462V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1385T	6						.						128.0	118.0	121.0					6																	17556624		2203	4300	6503	17664603	SO:0001583	missense	10486	exon13			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1385C>T	6.37:g.17556624C>T	ENSP00000229922:p.Ala462Val		17664603	NM_006366	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	C	2.806	-0.248132	0.05867	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.06528	3.3;3.3;3.29;3.29	5.93	-0.514	0.11958	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);	0.587434	0.19395	N	0.115308	T	0.00384	0.0012	N	0.00380	-1.58	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.001;0.0;0.0;0.0	B;B;B;B;B	0.17098	0.017;0.004;0.004;0.002;0.001	T	0.35699	-0.9778	10	0.02654	T	1	1.6819	11.4555	0.50179	0.0:0.6629:0.0:0.3371	.	202;350;398;436;462	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	V	462;379;350;436;202;398	ENSP00000229922:A462V;ENSP00000417705:A350V;ENSP00000368275:A436V;ENSP00000418604:A398V	ENSP00000229922:A462V	A	+	2	0	CAP2	17664603	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	0.800000	0.27042	-0.418000	0.07450	0.650000	0.86243	GCA		0.408	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2		
NHLRC1	378884	broad.mit.edu	37	6	18121994	18121994	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:18121994G>A	ENST00000340650.3	-	1	857	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	282					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P282S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGCCAGGGGGTGCTCCAGG	0.592																																					p.P282S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C844T	6						.						39.0	44.0	42.0					6																	18121994		2203	4300	6503	18229973	SO:0001583	missense	378884	exon1			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.844C>T	6.37:g.18121994G>A	ENSP00000345464:p.Pro282Ser		18229973	NM_198586	Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077190	0.08485	.	.	ENSG00000187566	ENST00000340650	D	0.89810	-2.57	5.18	4.25	0.50352	Six-bladed beta-propeller, TolB-like (1);	0.393271	0.22695	N	0.056770	T	0.68393	0.2996	L	0.44542	1.39	0.09310	N	0.999999	P	0.39391	0.671	B	0.34722	0.188	T	0.61893	-0.6969	10	0.08599	T	0.76	-13.2069	9.6457	0.39865	0.0774:0.1436:0.7791:0.0	.	282	Q6VVB1	NHLC1_HUMAN	S	282	ENSP00000345464:P282S	ENSP00000345464:P282S	P	-	1	0	NHLRC1	18229973	0.981000	0.34729	0.307000	0.25127	0.506000	0.33950	2.213000	0.42844	2.404000	0.81709	0.655000	0.94253	CCC		0.592	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1		
MBOAT1	154141	broad.mit.edu	37	6	20113210	20113210	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:20113210G>T	ENST00000324607.7	-	11	1270	c.1106C>A	c.(1105-1107)cCc>cAc	p.P369H	MBOAT1_ENST00000541730.1_Missense_Mutation_p.P220H	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	369					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.P369H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TAGCACCGTGGGGTACCATGG	0.453																																					p.P369H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1106A	6						.						117.0	91.0	100.0					6																	20113210		2203	4300	6503	20221189	SO:0001583	missense	154141	exon11			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1106C>A	6.37:g.20113210G>T	ENSP00000324944:p.Pro369His		20221189	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845461	0.71603	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.72615	-0.67;-0.67	5.83	5.83	0.93111	.	0.049500	0.85682	D	0.000000	D	0.82797	0.5115	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.73708	0.981;0.905	D	0.83582	0.0118	10	0.48119	T	0.1	-11.6527	14.6589	0.68855	0.0:0.2611:0.7388:0.0	.	220;369	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	H	220;369	ENSP00000441568:P220H;ENSP00000324944:P369H	ENSP00000324944:P369H	P	-	2	0	MBOAT1	20221189	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	2.624000	0.46444	2.770000	0.95276	0.655000	0.94253	CCC		0.453	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		
GPLD1	2822	broad.mit.edu	37	6	24450074	24450074	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:24450074G>A	ENST00000230036.1	-	15	1499	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	463					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.G463G(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGTCAGGCACGCCGTCCACGT	0.622																																					p.G463G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	6						.						112.0	104.0	107.0					6																	24450074		2203	4300	6503	24558053	SO:0001819	synonymous_variant	2822	exon15			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1389C>T	6.37:g.24450074G>A			24558053	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																				0.622	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
SLC17A3	10786	broad.mit.edu	37	6	25868575	25868575	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:25868575C>A	ENST00000360657.3	-	2	326	c.41G>T	c.(40-42)aGc>aTc	p.S14I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S14I|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S14I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	14					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.S14I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGCGTTCTTGCTCTCCCTTGC	0.433																																					p.S14I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G41T	6						.						284.0	239.0	254.0					6																	25868575		2203	4300	6503	25976554	SO:0001583	missense	10786	exon2			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.41G>T	6.37:g.25868575C>A	ENSP00000353873:p.Ser14Ile		25976554	NM_001098486	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	8.498	0.863644	0.17250	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.67345	-0.16;-0.26;-0.26	3.36	-0.697	0.11284	.	1.898600	0.03037	N	0.152841	T	0.20981	0.0505	N	0.08118	0	0.09310	N	1	B;B;B	0.34015	0.435;0.009;0.435	B;B;B	0.30029	0.11;0.005;0.083	T	0.14144	-1.0483	10	0.46703	T	0.11	.	4.2213	0.10559	0.0:0.3988:0.3731:0.2281	.	14;14;14	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	I	14	ENSP00000380250:S14I;ENSP00000353873:S14I;ENSP00000355307:S14I	ENSP00000353873:S14I	S	-	2	0	SLC17A3	25976554	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.002000	0.13061	-0.169000	0.10834	-0.142000	0.14014	AGC		0.433	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2		
HIST1H1A	3024	broad.mit.edu	37	6	26017347	26017347	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:26017347G>A	ENST00000244573.3	-	1	693	c.614C>T	c.(613-615)gCc>gTc	p.A205V		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	205					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.A205V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTTGGGTTTGGCAGTCTTTGG	0.463																																					p.A205V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614T	6						.						122.0	125.0	124.0					6																	26017347		2203	4300	6503	26125326	SO:0001583	missense	3024	exon1			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.614C>T	6.37:g.26017347G>A	ENSP00000244573:p.Ala205Val		26125326	NM_005325	Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	15.78	2.935466	0.52866	.	.	ENSG00000124610	ENST00000244573	T	0.25579	1.79	4.31	3.43	0.39272	.	0.213809	0.38164	N	0.001782	T	0.09202	0.0227	L	0.39514	1.22	0.38669	D	0.952268	B	0.15719	0.014	B	0.12837	0.008	T	0.06092	-1.0846	10	0.19147	T	0.46	-31.1527	11.3912	0.49815	0.0907:0.0:0.9093:0.0	.	205	Q02539	H11_HUMAN	V	205	ENSP00000244573:A205V	ENSP00000244573:A205V	A	-	2	0	HIST1H1A	26125326	0.991000	0.36638	0.102000	0.21198	0.957000	0.61999	7.129000	0.77225	2.320000	0.78422	0.609000	0.83330	GCC		0.463	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325	
HIST1H2AE	3012	broad.mit.edu	37	6	26217267	26217267	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:26217267C>T	ENST00000303910.2	+	1	103	c.65C>T	c.(64-66)gCc>gTc	p.A22V	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	22						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A22V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCTTCCAGGGCCGGTCTTCAG	0.582																																					p.A22V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C65T	6						.						64.0	55.0	58.0					6																	26217267		2203	4299	6502	26325246	SO:0001583	missense	3012	exon1			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.65C>T	6.37:g.26217267C>T	ENSP00000303373:p.Ala22Val		26325246	NM_021052	P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.581988	0.28180	.	.	ENSG00000168274	ENST00000303910	T	0.70399	-0.48	3.99	3.99	0.46301	.	0.000000	0.33753	U	0.004593	D	0.91099	0.7198	H	0.99914	4.94	0.52501	D	0.999956	.	.	.	.	.	.	D	0.95024	0.8163	8	0.87932	D	0	.	15.5885	0.76506	0.0:1.0:0.0:0.0	.	.	.	.	V	22	ENSP00000303373:A22V	ENSP00000303373:A22V	A	+	2	0	HIST1H2AE	26325246	1.000000	0.71417	0.567000	0.28434	0.025000	0.11179	7.467000	0.80930	2.219000	0.72066	0.591000	0.81541	GCC		0.582	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052	
BTN3A3	10384	broad.mit.edu	37	6	26452415	26452415	+	Missense_Mutation	SNP	A	A	G	rs376332419		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:26452415A>G	ENST00000244519.2	+	11	1774	c.1531A>G	c.(1531-1533)Att>Gtt	p.I511V	BTN3A3_ENST00000339789.4_Missense_Mutation_p.I469V|BTN3A3_ENST00000361232.3_Missense_Mutation_p.I462V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	511	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.I511V(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGCCCTGACCATTTGCCCAAT	0.498																																					p.I511V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1531G	6						.	A	VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	83.0	82.0	82.0		901,1531,1384	3.1	0.2	6		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BTN3A3	NM_001242803.1,NM_006994.4,NM_197974.2	29,29,29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	301/375,511/585,462/536	26452415	1,13005	2203	4300	6503	26560394	SO:0001583	missense	10384	exon11			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1531A>G	6.37:g.26452415A>G	ENSP00000244519:p.Ile511Val		26560394	NM_006994	B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282495	0.80692	0.0	1.16E-4	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.63096	-0.02;-0.02;-0.02	3.07	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.49047	0.1534	M	0.80028	2.48	0.24558	N	0.993981	B;P	0.37370	0.241;0.592	B;B	0.39660	0.117;0.306	T	0.48375	-0.9041	9	0.54805	T	0.06	.	8.171	0.31254	1.0:0.0:0.0:0.0	.	462;511	E9PCP5;O00478	.;BT3A3_HUMAN	V	511;469;462	ENSP00000244519:I511V;ENSP00000344968:I469V;ENSP00000355238:I462V	ENSP00000244519:I511V	I	+	1	0	BTN3A3	26560394	0.846000	0.29590	0.235000	0.24058	0.791000	0.44710	2.513000	0.45494	1.337000	0.45525	0.374000	0.22700	ATT		0.498	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	
BTN1A1	696	broad.mit.edu	37	6	26501536	26501536	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:26501536G>A	ENST00000244513.6	+	1	88	c.22G>A	c.(22-24)Ggt>Agt	p.G8S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	8						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G8S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CCCAAGCTCCGGTCTCCCCAG	0.522																																					p.G8S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G22A	6						.						102.0	97.0	99.0					6																	26501536		2203	4300	6503	26609515	SO:0001583	missense	696	exon1			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.22G>A	6.37:g.26501536G>A	ENSP00000244513:p.Gly8Ser		26609515	NM_001732	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	2.248	-0.372158	0.05034	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.32753	1.44	4.19	-1.13	0.09775	.	1.244060	0.05436	N	0.546795	T	0.02012	0.0063	N	0.00991	-1.07	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29731	-1.0002	10	0.20519	T	0.43	.	0.5896	0.00725	0.1645:0.2075:0.1878:0.4401	.	8	Q13410	BT1A1_HUMAN	S	8	ENSP00000244513:G8S	ENSP00000244513:G8S	G	+	1	0	BTN1A1	26609515	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.514000	0.06298	-0.535000	0.06307	-1.104000	0.02111	GGT		0.522	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
PGBD1	84547	broad.mit.edu	37	6	28251898	28251898	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:28251898G>A	ENST00000405948.2	+	2	728	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	PGBD1_ENST00000259883.3_Missense_Mutation_p.C103Y	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	103	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.					membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C103Y(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCCAGCCCTGTGTGAAGACA	0.537																																					p.C103Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	6						.						103.0	94.0	97.0					6																	28251898		2203	4300	6503	28359877	SO:0001583	missense	84547	exon2			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.308G>A	6.37:g.28251898G>A	ENSP00000385213:p.Cys103Tyr		28359877	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.923972	0.00493	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.05025	3.51;3.51	4.32	0.494	0.16884	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	2.341060	0.02187	N	0.061035	T	0.01421	0.0046	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.45264	-0.9273	10	0.45353	T	0.12	-8.7295	2.3953	0.04388	0.1742:0.1502:0.5207:0.1548	.	103	Q96JS3	PGBD1_HUMAN	Y	103	ENSP00000385213:C103Y;ENSP00000259883:C103Y	ENSP00000259883:C103Y	C	+	2	0	PGBD1	28359877	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.960000	0.29253	0.064000	0.16427	-0.962000	0.02626	TGT		0.537	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
DHX16	8449	broad.mit.edu	37	6	30632917	30632917	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:30632917C>T	ENST00000376442.3	-	6	1251	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	352			K -> E (in dbSNP:rs17189239).		mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.K352K(1)		kidney(2)|ovary(2)	4						CCAGTTGATACTTGGGCTCCT	0.637																																					p.K352K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1056A	6						.						31.0	31.0	31.0					6																	30632917		2203	4300	6503	30740896	SO:0001819	synonymous_variant	8449	exon6			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1056G>A	6.37:g.30632917C>T			30740896	NM_003587	O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	CCDS4685.1																																																																																				0.637	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
MDC1	9656	broad.mit.edu	37	6	30681044	30681044	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:30681044A>G	ENST00000376406.3	-	5	1322	c.675T>C	c.(673-675)ggT>ggC	p.G225G	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.G225G|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	225	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.G225G(1)		breast(2)|kidney(1)|ovary(1)	4						CTGGTTGCTGACCTTCTTCCA	0.547								Other conserved DNA damage response genes																													p.G225G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T675C	6						.						69.0	79.0	75.0					6																	30681044		1508	2708	4216	30789023	SO:0001819	synonymous_variant	9656	exon5			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.675T>C	6.37:g.30681044A>G			30789023	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1																																																																																				0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
GTF2H4	2968	broad.mit.edu	37	6	30877253	30877253	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:30877253T>C	ENST00000259895.4	+	3	402	c.179T>C	c.(178-180)cTc>cCc	p.L60P	GTF2H4_ENST00000539324.1_Missense_Mutation_p.L4P|RN7SL175P_ENST00000580375.1_RNA|GTF2H4_ENST00000376316.2_Missense_Mutation_p.L60P	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	60					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L60P(1)		breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATGCGGATGCTCTTTCTGGAG	0.483								Nucleotide excision repair (NER)																													p.L60P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T179C	6						.						88.0	89.0	89.0					6																	30877253		1508	2709	4217	30985232	SO:0001583	missense	2968	exon3			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.179T>C	6.37:g.30877253T>C	ENSP00000259895:p.Leu60Pro		30985232	NM_001517	B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304304	0.81136	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316;ENST00000453897	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.96	4.96	0.65561	.	0.000000	0.49305	U	0.000144	T	0.72803	0.3506	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	0.999;0.999;1.0;1.0	T	0.80609	-0.1306	10	0.87932	D	0	-24.3005	12.6104	0.56547	0.0:0.0:0.0:1.0	.	66;4;60;60	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	P	60;4;60;60	ENSP00000259895:L60P;ENSP00000442700:L4P;ENSP00000365493:L60P;ENSP00000410160:L60P	ENSP00000259895:L60P	L	+	2	0	GTF2H4	30985232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.052000	0.76634	1.862000	0.54008	0.454000	0.30748	CTC		0.483	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517	
PRRC2A	7916	broad.mit.edu	37	6	31603036	31603036	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:31603036G>A	ENST00000376033.2	+	22	5522	c.5288G>A	c.(5287-5289)gGc>gAc	p.G1763D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1763D	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1763	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G1763D(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GTCCAGTTTGGCACTAGTGAC	0.577																																					p.G1763D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5288A	6						.						87.0	77.0	80.0					6																	31603036		2203	4300	6503	31711015	SO:0001583	missense	7916	exon22			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5288G>A	6.37:g.31603036G>A	ENSP00000365201:p.Gly1763Asp		31711015	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	6.591	0.477468	0.12521	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.04502	3.61;3.61	5.51	4.64	0.57946	.	0.307372	0.28612	N	0.014730	T	0.06416	0.0165	L	0.52573	1.65	0.29014	N	0.8867	D	0.60160	0.987	P	0.56865	0.808	T	0.03684	-1.1013	10	0.87932	D	0	-2.9664	14.7696	0.69665	0.0756:0.0:0.9244:0.0	.	1763	P48634	PRC2A_HUMAN	D	1757;1746;1763;1763;988	ENSP00000365175:G1763D;ENSP00000365201:G1763D	ENSP00000365175:G1763D	G	+	2	0	PRRC2A	31711015	1.000000	0.71417	0.944000	0.38274	0.323000	0.28346	3.363000	0.52321	0.902000	0.36520	-1.134000	0.01955	GGC		0.577	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
CSNK2B	1460	broad.mit.edu	37	6	31637663	31637663	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:31637663C>T	ENST00000375882.2	+	7	764	c.608C>T	c.(607-609)gCc>gTc	p.A203V	CSNK2B_ENST00000375885.4_Missense_Mutation_p.A222V|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.A203V|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|CSNK2B_ENST00000375866.2_Missense_Mutation_p.A203V	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	203					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)	p.A203V(1)		central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CAGCTCCAAGCCGCCAGCAAC	0.562																																					p.A203V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C608T	6						.						112.0	77.0	89.0					6																	31637663		1511	2709	4220	31745642	SO:0001583	missense	1460	exon7			M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.608C>T	6.37:g.31637663C>T	ENSP00000365042:p.Ala203Val		31745642	NM_001320	B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516911	0.64634	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375865;ENST00000375866	.	.	.	5.52	5.52	0.82312	.	0.331994	0.29383	N	0.012317	T	0.46908	0.1417	L	0.60455	1.87	0.47584	D	0.999466	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	8	0.30854	T	0.27	-24.2561	16.978	0.86319	0.0:1.0:0.0:0.0	.	203	P67870	CSK2B_HUMAN	V	222;203;203;203	.	ENSP00000365025:A203V	A	+	2	0	CSNK2B	31745642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.664000	0.74437	2.873000	0.98535	0.563000	0.77884	GCC		0.562	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320	
MSH5	4439	broad.mit.edu	37	6	31728558	31728558	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:31728558T>C	ENST00000375755.3	+	20	2190	c.1904T>C	c.(1903-1905)aTt>aCt	p.I635T	MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.I652T|MSH5_ENST00000431848.2_Missense_Mutation_p.I334T|MSH5_ENST00000375750.3_Missense_Mutation_p.I635T|MSH5_ENST00000375703.3_Missense_Mutation_p.I635T|MSH5_ENST00000375740.3_Missense_Mutation_p.I652T|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375742.3_Missense_Mutation_p.I652T|MSH5_ENST00000395853.1_Missense_Mutation_p.I309T|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000534153.4_Missense_Mutation_p.I652T|MSH5-SAPCD1_ENST00000491552.1_3'UTR	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	635					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.I21T(1)|p.I635T(1)		breast(1)|ovary(2)|skin(2)	5						TTCACACGAATTCATAGCTGC	0.527								Direct reversal of damage;Mismatch excision repair (MMR)																													p.I652T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1955C	6						.						106.0	82.0	91.0					6																	31728558		1511	2709	4220	31836537	SO:0001583	missense	4439	exon20			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1904T>C	6.37:g.31728558T>C	ENSP00000364908:p.Ile635Thr		31836537	NM_025259	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714264	0.89112	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000491552	D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.73	5.73	0.89815	DNA mismatch repair protein MutS, C-terminal (2);	0.094180	0.64402	D	0.000001	D	0.92172	0.7518	M	0.91406	3.205	0.37336	D	0.910199	P;P;P;P;P	0.51057	0.934;0.724;0.941;0.746;0.849	P;P;P;P;P	0.51170	0.654;0.474;0.654;0.661;0.555	D	0.94217	0.7464	9	0.87932	D	0	-9.2073	13.9685	0.64225	0.0:0.0:0.0:1.0	.	320;652;635;635;652	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	T	635;652;167;635;652;635;652;334;309;21	ENSP00000364908:I635T;ENSP00000364894:I652T;ENSP00000364903:I635T;ENSP00000431693:I652T;ENSP00000364855:I635T;ENSP00000364892:I652T;ENSP00000416784:I334T;ENSP00000379194:I309T	ENSP00000364855:I635T	I	+	2	0	MSH5;MSH5-C6orf26	31836537	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.285000	0.78660	2.187000	0.69744	0.482000	0.46254	ATT		0.527	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
BTNL2	56244	broad.mit.edu	37	6	32370751	32370751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:32370751C>T	ENST00000374993.1	-	3	669	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.V224I|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	224	Ig-like V-type 2.					integral component of membrane (GO:0016021)		p.V224I(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCAGTGAGGACGGGGTTGTGG	0.592																																					p.V224I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670A	6						.						73.0	61.0	65.0					6																	32370751		1511	2708	4219	32478729	SO:0001583	missense	56244	exon3			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.670G>A	6.37:g.32370751C>T	ENSP00000364132:p.Val224Ile		32478729	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		.	.	.	.	.	.	.	.	.	.	C	1.530	-0.544595	0.04024	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.75589	-0.95	4.71	-5.73	0.02398	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.451450	0.04328	N	0.351912	T	0.18718	0.0449	N	0.05487	-0.04	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.06570	-1.0819	10	0.07482	T	0.82	.	1.9694	0.03402	0.1228:0.378:0.2442:0.255	.	224	Q9UIR0	BTNL2_HUMAN	I	224	ENSP00000364132:V224I	ENSP00000364132:V224I	V	-	1	0	BTNL2	32478729	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-2.170000	0.01268	-0.689000	0.05149	-0.172000	0.13284	GTC		0.592	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
TAP2	6891	broad.mit.edu	37	6	32800563	32800563	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:32800563C>T	ENST00000452392.2	-	6	1157	c.984G>A	c.(982-984)gcG>gcA	p.A328A	TAP2_ENST00000374899.4_Silent_p.A328A|TAP2_ENST00000374897.2_Silent_p.A328A|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.A328A(1)								Vitamin E(DB00163)	CCACCTGCCCCGCCCTGGCCA	0.592																																					p.A328A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G984A	6						.						60.0	62.0	61.0					6																	32800563		1509	2709	4218	32908541	SO:0001819	synonymous_variant	6891	exon6			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.984G>A	6.37:g.32800563C>T			32908541	NM_018833	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37																																																																																					0.592	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544	
COL11A2	1302	broad.mit.edu	37	6	33139510	33139510	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:33139510C>T	ENST00000374708.4	-	40	3130	c.2872G>A	c.(2872-2874)Gca>Aca	p.A958T	COL11A2_ENST00000395197.1_Missense_Mutation_p.A984T|COL11A2_ENST00000341947.2_Missense_Mutation_p.A1044T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A937T|COL11A2_ENST00000374713.1_Missense_Mutation_p.A997T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1023T|COL11A2_ENST00000374714.1_Missense_Mutation_p.A1018T|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.A963T	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1044	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A1044T(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTCTCTCCTGCTGCTCCAGGG	0.637																																					p.A958T	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2872A	6						.						23.0	24.0	24.0					6																	33139510		1509	2708	4217	33247488	SO:0001583	missense	1302	exon40			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2872G>A	6.37:g.33139510C>T	ENSP00000363840:p.Ala958Thr		33247488	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054735	0.36277	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	3.92	3.92	0.45320	.	0.146061	0.43747	D	0.000535	D	0.86560	0.5962	L	0.27053	0.805	0.51233	D	0.999914	P;P;P	0.51933	0.949;0.879;0.892	P;B;P	0.46253	0.492;0.396;0.509	D	0.88223	0.2898	10	0.52906	T	0.07	.	13.4857	0.61364	0.0:1.0:0.0:0.0	.	937;958;1044	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	T	958;1044;1023;1018;997;984;963;937	ENSP00000363840:A958T;ENSP00000339915:A1044T;ENSP00000350079:A1023T;ENSP00000363846:A1018T;ENSP00000363845:A997T;ENSP00000378623:A984T;ENSP00000363844:A963T;ENSP00000355123:A937T	ENSP00000339915:A1044T	A	-	1	0	COL11A2	33247488	1.000000	0.71417	0.997000	0.53966	0.440000	0.31957	4.490000	0.60319	2.027000	0.59764	0.478000	0.44815	GCA		0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
COL11A2	1302	broad.mit.edu	37	6	33142331	33142331	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:33142331A>G	ENST00000374708.4	-	29	2403	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P	COL11A2_ENST00000395197.1_Silent_p.P741P|COL11A2_ENST00000341947.2_Silent_p.P801P|COL11A2_ENST00000361917.1_Silent_p.P694P|COL11A2_ENST00000374713.1_Silent_p.P754P|COL11A2_ENST00000357486.1_Silent_p.P780P|COL11A2_ENST00000374714.1_Silent_p.P775P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.P720P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	801	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P801P(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGATAGCCAGGCAGACCAG	0.612																																					p.P715P	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2145C	6						.						161.0	80.0	109.0					6																	33142331		1511	2709	4220	33250309	SO:0001819	synonymous_variant	1302	exon29			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2145T>C	6.37:g.33142331A>G			33250309	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	CCDS43452.1																																																																																				0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
PNPLA1	285848	broad.mit.edu	37	6	36262043	36262043	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:36262043G>A	ENST00000394571.2	+	4	581	c.581G>A	c.(580-582)aGt>aAt	p.S194N	PNPLA1_ENST00000388715.3_Missense_Mutation_p.S99N|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S108N	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	194					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.S99N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCCACCTTCAGTGGGCAGCAG	0.607																																					p.S194N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581A	6						.						101.0	78.0	86.0					6																	36262043		2203	4300	6503	36370021	SO:0001583	missense	285848	exon4				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.581G>A	6.37:g.36262043G>A	ENSP00000378072:p.Ser194Asn		36370021	NM_001145717	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851350	0.71719	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.78	3.9	0.45041	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.414737	0.23343	N	0.049214	T	0.74981	0.3788	M	0.71036	2.16	0.30413	N	0.778858	D;D	0.58268	0.969;0.982	P;P	0.58970	0.642;0.849	T	0.73040	-0.4108	10	0.87932	D	0	-12.3886	11.4321	0.50047	0.0:0.3529:0.6471:0.0	.	194;108	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	N	99;108;195;194	ENSP00000373367:S99N;ENSP00000321116:S108N;ENSP00000391868:S195N;ENSP00000378072:S194N	ENSP00000321116:S108N	S	+	2	0	PNPLA1	36370021	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	3.650000	0.54424	1.225000	0.43566	0.561000	0.74099	AGT		0.607	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676	
C6orf222	389384	broad.mit.edu	37	6	36294506	36294506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:36294506delC	ENST00000437635.2	-	5	994	c.817delG	c.(817-819)gtgfs	p.V273fs		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	273								p.V273fs*149(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGGGCCACCCCCAGCTGT	0.527																																					p.V273fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.817delG	6						.						133.0	144.0	141.0					6																	36294506		2203	4300	6503	36402484	SO:0001589	frameshift_variant	389384	exon5				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.817delG	6.37:g.36294506delC	ENSP00000418983:p.Val273fs		36402484	NM_001010903	B2RTY8	Frame_Shift_Del	DEL	ENST00000437635.2	37	CCDS34439.1																																																																																				0.527	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903	
USP49	25862	broad.mit.edu	37	6	41773963	41773963	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:41773963C>T	ENST00000394253.3	-	3	1088	c.759G>A	c.(757-759)acG>acA	p.T253T	USP49_ENST00000373006.1_Silent_p.T253T|USP49_ENST00000373010.1_Silent_p.T253T|USP49_ENST00000297229.2_Silent_p.T253T|USP49_ENST00000373009.3_Silent_p.T253T			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	253	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T253T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCGCAGGCCCGTGACGCCTG	0.667																																					p.T253T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G759A	6						.						39.0	40.0	40.0					6																	41773963		2201	4298	6499	41881941	SO:0001819	synonymous_variant	25862	exon4			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.759G>A	6.37:g.41773963C>T			41881941	NM_018561	Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37																																																																																					0.667	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
CUL7	9820	broad.mit.edu	37	6	43014076	43014076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:43014076G>T	ENST00000265348.3	-	12	2643	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	CUL7_ENST00000535468.1_Missense_Mutation_p.A937D|CUL7_ENST00000478630.1_5'UTR			Q14999	CUL7_HUMAN	cullin 7	853	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.A853D(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGCTTGCTGGCCCGGTGCGG	0.637																																					p.A853D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2558A	6						.						111.0	96.0	101.0					6																	43014076		2203	4300	6503	43122054	SO:0001583	missense	9820	exon12			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2558C>A	6.37:g.43014076G>T	ENSP00000265348:p.Ala853Asp		43122054	NM_014780	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268138	0.95429	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.68765	-0.35;-0.35	5.14	5.14	0.70334	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.995	D	0.84847	0.0811	10	0.87932	D	0	-22.8536	18.567	0.91120	0.0:0.0:1.0:0.0	.	937;937;853	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	D	853;937	ENSP00000265348:A853D;ENSP00000438788:A937D	ENSP00000265348:A853D	A	-	2	0	CUL7	43122054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.860000	0.86993	2.551000	0.86045	0.650000	0.86243	GCC		0.637	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780	
SLC29A1	2030	broad.mit.edu	37	6	44197523	44197523	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:44197523T>C	ENST00000393841.1	+	5	800	c.309T>C	c.(307-309)caT>caC	p.H103H	SLC29A1_ENST00000371731.1_Silent_p.H103H|SLC29A1_ENST00000313248.7_Silent_p.H182H|SLC29A1_ENST00000371724.1_Silent_p.H103H|SLC29A1_ENST00000371740.5_Silent_p.H103H|SLC29A1_ENST00000427851.2_Silent_p.H103H|SLC29A1_ENST00000371755.3_Silent_p.H103H|SLC29A1_ENST00000371708.1_Silent_p.H103H|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Silent_p.H103H|SLC29A1_ENST00000371713.1_Silent_p.H103H	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	103					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.H103H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CCTTCCTGCATCAGAGGTGAG	0.592																																					p.H103H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T309C	6						.						111.0	102.0	105.0					6																	44197523		2203	4300	6503	44305501	SO:0001819	synonymous_variant	2030	exon4			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.309T>C	6.37:g.44197523T>C			44305501	NM_001078174	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	CCDS4908.1																																																																																				0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		
AARS2	57505	broad.mit.edu	37	6	44272859	44272859	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:44272859C>T	ENST00000244571.4	-	11	1513	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R504H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACTCCTTGGCGCTGCAGCTC	0.627											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R504H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1511A	6						.						105.0	95.0	98.0					6																	44272859		2203	4300	6503	44380837	SO:0001583	missense	57505	exon11			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1511G>A	6.37:g.44272859C>T	ENSP00000244571:p.Arg504His	922	44380837	NM_020745		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428981	0.43122	.	.	ENSG00000124608	ENST00000244571	T	0.72051	-0.62	5.01	0.081	0.14423	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.185095	0.45606	N	0.000360	T	0.32376	0.0827	N	0.25332	0.735	0.09310	N	1	B	0.24317	0.101	B	0.17433	0.018	T	0.28299	-1.0048	10	0.39692	T	0.17	-3.2804	9.8334	0.40956	0.0:0.6535:0.0:0.3465	.	504	Q5JTZ9	SYAM_HUMAN	H	504	ENSP00000244571:R504H	ENSP00000244571:R504H	R	-	2	0	AARS2	44380837	0.000000	0.05858	0.875000	0.34327	0.827000	0.46813	-0.054000	0.11826	-0.048000	0.13401	-0.170000	0.13304	CGC		0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
RUNX2	860	broad.mit.edu	37	6	45514821	45514821	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:45514821A>G	ENST00000371438.1	+	8	1703	c.1345A>G	c.(1345-1347)Act>Gct	p.T449A	RUNX2_ENST00000371432.3_Missense_Mutation_p.T413A|RUNX2_ENST00000359524.5_Missense_Mutation_p.T435A|RUNX2_ENST00000352853.5_Missense_Mutation_p.T517A|RUNX2_ENST00000541979.1_Missense_Mutation_p.T495A|RUNX2_ENST00000465038.2_Missense_Mutation_p.T449A|RUNX2_ENST00000371436.6_Missense_Mutation_p.T427A|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	449	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T517A(1)|p.T449A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTACTATGGCACTTCGTCAGG	0.587																																					p.T435A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1303G	6						.						107.0	94.0	98.0					6																	45514821		2203	4300	6503	45622799	SO:0001583	missense	860	exon7			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1345A>G	6.37:g.45514821A>G	ENSP00000360493:p.Thr449Ala		45622799	NM_004348	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	8.590	0.884432	0.17467	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.77	5.77	0.91146	Runx inhibition (1);	0.043178	0.85682	D	0.000000	T	0.09730	0.0239	N	0.05259	-0.085	0.45161	D	0.998178	B;B;B	0.24368	0.014;0.102;0.025	B;B;B	0.33339	0.036;0.162;0.05	T	0.22312	-1.0220	10	0.21014	T	0.42	-7.4523	16.3948	0.83586	1.0:0.0:0.0:0.0	.	495;449;435	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	A	449;517;495;449;427;435;413	ENSP00000420707:T449A;ENSP00000319087:T517A;ENSP00000446290:T495A;ENSP00000360493:T449A;ENSP00000360491:T427A;ENSP00000352514:T435A;ENSP00000360486:T413A	ENSP00000319087:T517A	T	+	1	0	RUNX2	45622799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.962000	0.56766	2.326000	0.78906	0.533000	0.62120	ACT		0.587	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
PKHD1	5314	broad.mit.edu	37	6	51941107	51941107	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:51941107C>T	ENST00000371117.3	-	6	690	c.415G>A	c.(415-417)Gtt>Att	p.V139I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V139I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	139	IPT/TIG 2.				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.V139I(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)					ACTTGGTGAACGATGGGTGTC	0.393																																					p.V139I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415A	6						.						105.0	108.0	107.0					6																	51941107		2203	4300	6503	52049066	SO:0001583	missense	5314	exon6			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.415G>A	6.37:g.51941107C>T	ENSP00000360158:p.Val139Ile		52049066	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040648	0.08196	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83992	-1.61;-1.79	5.74	2.81	0.32909	.	0.422418	0.22311	N	0.061737	T	0.43831	0.1265	N	0.16307	0.4	0.21325	N	0.999724	B;B	0.18310	0.027;0.016	B;B	0.13407	0.009;0.004	T	0.33394	-0.9870	10	0.20046	T	0.44	.	5.0439	0.14473	0.1696:0.648:0.0:0.1823	.	139;139	P08F94-2;P08F94	.;PKHD1_HUMAN	I	139	ENSP00000360158:V139I;ENSP00000341097:V139I	ENSP00000341097:V139I	V	-	1	0	PKHD1	52049066	1.000000	0.71417	0.811000	0.32455	0.470000	0.32858	1.570000	0.36439	0.356000	0.24157	0.650000	0.86243	GTT		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
KHDRBS2	202559	broad.mit.edu	37	6	62407113	62407113	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:62407113G>T	ENST00000281156.4	-	8	1217	c.939C>A	c.(937-939)gcC>gcA	p.A313A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.A313A(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGCTGTCATAGGCATCCTCAC	0.398																																					p.A313A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939A	6						.						134.0	109.0	118.0					6																	62407113		2203	4300	6503	62465072	SO:0001819	synonymous_variant	202559	exon8			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.939C>A	6.37:g.62407113G>T			62465072	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	CCDS4963.1																																																																																				0.398	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
PHF3	23469	broad.mit.edu	37	6	64423579	64423579	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:64423579C>T	ENST00000262043.3	+	16	6435	c.6095C>T	c.(6094-6096)aCt>aTt	p.T2032I	PHF3_ENST00000393387.1_Missense_Mutation_p.T2032I			Q92576	PHF3_HUMAN	PHD finger protein 3	2032					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T2032I(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)			AGGGACCACACTGACAGAACT	0.363																																					p.T2032I	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6095T	6						.						49.0	47.0	48.0					6																	64423579		2203	4300	6503	64481538	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.6095C>T	6.37:g.64423579C>T	ENSP00000262043:p.Thr2032Ile		64481538	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	4.523	0.097037	0.08681	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.19806	2.12;2.12	5.56	1.76	0.24704	.	0.366777	0.19884	N	0.103891	T	0.03263	0.0095	N	0.24115	0.695	0.29021	N	0.886279	B	0.09022	0.002	B	0.08055	0.003	T	0.44787	-0.9305	9	.	.	.	-0.0011	4.2461	0.10672	0.1076:0.3964:0.3563:0.1398	.	2032	Q92576	PHF3_HUMAN	I	2032	ENSP00000262043:T2032I;ENSP00000377048:T2032I	.	T	+	2	0	PHF3	64481538	0.890000	0.30428	0.414000	0.26521	0.996000	0.88848	0.449000	0.21744	0.100000	0.17581	0.655000	0.94253	ACT		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
FAM135A	57579	broad.mit.edu	37	6	71235076	71235076	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:71235076C>A	ENST00000418814.2	+	15	2903	c.2289C>A	c.(2287-2289)gcC>gcA	p.A763A	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Silent_p.A763A|FAM135A_ENST00000361499.3_Silent_p.A567A|FAM135A_ENST00000370479.3_Silent_p.A550A|FAM135A_ENST00000457062.2_Silent_p.A550A	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	763								p.A550A(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCACATATGCCTCATCTAGAT	0.383																																					p.A763A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2289A	6						.						82.0	78.0	79.0					6																	71235076		2203	4299	6502	71291797	SO:0001819	synonymous_variant	57579	exon13			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2289C>A	6.37:g.71235076C>A			71291797	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	CCDS55028.1																																																																																				0.383	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
MTO1	25821	broad.mit.edu	37	6	74183277	74183277	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:74183277G>A	ENST00000370300.4	+	4	815	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	MTO1_ENST00000415954.2_Missense_Mutation_p.R242Q|MTO1_ENST00000370305.1_Missense_Mutation_p.R168Q|MTO1_ENST00000498286.1_Missense_Mutation_p.R242Q	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	242					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.R242Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						ACTCCACCCCGAATTGCCAAA	0.453																																					p.R242Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	6						.						130.0	120.0	123.0					6																	74183277		2203	4300	6503	74239998	SO:0001583	missense	25821	exon4			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.725G>A	6.37:g.74183277G>A	ENSP00000359323:p.Arg242Gln		74239998	NM_001123226	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	g	31	5.070473	0.93950	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000370305;ENST00000370300	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.7	4.83	0.62350	.	0.067860	0.64402	D	0.000011	D	0.92280	0.7551	H	0.97365	3.99	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.956;1.0;1.0	D	0.95025	0.8164	10	0.87932	D	0	-5.1745	15.2618	0.73628	0.0:0.1399:0.8601:0.0	.	242;242;242	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	Q	242;242;168;242	ENSP00000402038:R242Q;ENSP00000419561:R242Q;ENSP00000359328:R168Q;ENSP00000359323:R242Q	ENSP00000359323:R242Q	R	+	2	0	MTO1	74239998	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.176000	0.77643	1.420000	0.47138	-0.167000	0.13348	CGA		0.453	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123	
ELOVL4	6785	broad.mit.edu	37	6	80629219	80629219	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:80629219T>C	ENST00000369816.4	-	5	887	c.587A>G	c.(586-588)tAc>tGc	p.Y196C		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	196					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.Y196C(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	ATAGTATGAGTACATAATCAC	0.358																																					p.Y196C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A587G	6						.						92.0	86.0	88.0					6																	80629219		2203	4300	6503	80685938	SO:0001583	missense	6785	exon5			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.587A>G	6.37:g.80629219T>C	ENSP00000358831:p.Tyr196Cys		80685938	NM_022726	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168525	0.78339	.	.	ENSG00000118402	ENST00000369816	T	0.59638	0.25	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90514	0.4483	10	0.87932	D	0	-16.592	15.3464	0.74340	0.0:0.0:0.0:1.0	.	196	Q9GZR5	ELOV4_HUMAN	C	196	ENSP00000358831:Y196C	ENSP00000358831:Y196C	Y	-	2	0	ELOVL4	80685938	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	8.040000	0.89188	2.230000	0.72887	0.528000	0.53228	TAC		0.358	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1		
AKIRIN2	55122	broad.mit.edu	37	6	88385610	88385610	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:88385610A>G	ENST00000257787.5	-	4	1093	c.569T>C	c.(568-570)aTa>aCa	p.I190T		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	190					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)	p.I190T(1)		large_intestine(4)	4						TCGTCGCATTATTTGATCATG	0.318																																					p.I190T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T569C	6						.						87.0	82.0	84.0					6																	88385610		2203	4300	6503	88442329	SO:0001583	missense	55122	exon4			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"""chromosome 6 open reading frame 166"""	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.569T>C	6.37:g.88385610A>G	ENSP00000257787:p.Ile190Thr		88442329	NM_018064	Q9BQB1	Missense_Mutation	SNP	ENST00000257787.5	37	CCDS5013.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288649	0.59976	.	.	ENSG00000135334	ENST00000257787	.	.	.	5.77	5.77	0.91146	.	0.099558	0.64402	D	0.000002	T	0.51568	0.1682	M	0.82132	2.575	0.58432	D	0.999997	P	0.45827	0.867	B	0.39027	0.288	T	0.65315	-0.6198	9	0.87932	D	0	-13.1131	16.383	0.83481	1.0:0.0:0.0:0.0	.	190	Q53H80	AKIR2_HUMAN	T	190	.	ENSP00000257787:I190T	I	-	2	0	AKIRIN2	88442329	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	ATA		0.318	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064	
MAP3K7	6885	broad.mit.edu	37	6	91281430	91281430	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:91281430C>A	ENST00000369329.3	-	2	378	c.217G>T	c.(217-219)Gcg>Tcg	p.A73S	MAP3K7_ENST00000369327.3_Missense_Mutation_p.A73S|MAP3K7_ENST00000369325.3_Missense_Mutation_p.A73S|MAP3K7_ENST00000369332.3_Missense_Mutation_p.A73S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	73	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.A73S(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACAATAAACGCTTTCCTCTCA	0.348																																					p.A73S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217T	6						.						158.0	142.0	148.0					6																	91281430		2203	4299	6502	91338151	SO:0001583	missense	6885	exon2			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.217G>T	6.37:g.91281430C>A	ENSP00000358335:p.Ala73Ser		91338151	NM_145333	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513615	0.64522	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088628	0.85682	D	0.000000	T	0.72851	0.3512	N	0.16098	0.37	0.80722	D	1	B;B;B;B	0.28419	0.013;0.013;0.211;0.017	B;B;B;B	0.44133	0.05;0.073;0.442;0.119	T	0.71189	-0.4666	10	0.24483	T	0.36	.	19.5591	0.95366	0.0:1.0:0.0:0.0	.	73;73;73;73	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	S	73	ENSP00000358338:A73S;ENSP00000358335:A73S;ENSP00000358331:A73S;ENSP00000358333:A73S	ENSP00000358331:A73S	A	-	1	0	MAP3K7	91338151	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.574000	0.82434	2.626000	0.88956	0.557000	0.71058	GCG		0.348	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
EPHA7	2045	broad.mit.edu	37	6	94120783	94120783	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:94120783T>C	ENST00000369303.4	-	3	452	c.268A>G	c.(268-270)Att>Gtt	p.I90V	EPHA7_ENST00000369297.1_Missense_Mutation_p.I90V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	90	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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.I90V(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)		CCTTTGGAAATCCAGTTAGTC	0.438																																					p.I90V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A268G	6						.						107.0	110.0	109.0					6																	94120783		2203	4300	6503	94177504	SO:0001583	missense	2045	exon3			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.268A>G	6.37:g.94120783T>C	ENSP00000358309:p.Ile90Val		94177504	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450027	0.43531	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.15718	2.4;2.4	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	M	0.72353	2.195	0.80722	D	1	P;B;B;B	0.38863	0.65;0.142;0.201;0.239	P;B;B;B	0.51079	0.658;0.106;0.102;0.152	T	0.00735	-1.1588	10	0.38643	T	0.18	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	90;90;90;90	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	V	90	ENSP00000358309:I90V;ENSP00000358303:I90V	ENSP00000358303:I90V	I	-	1	0	EPHA7	94177504	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.116000	0.64661	2.219000	0.72066	0.533000	0.62120	ATT		0.438	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
UFL1	23376	broad.mit.edu	37	6	96984183	96984183	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:96984183A>G	ENST00000369278.4	+	8	785	c.719A>G	c.(718-720)gAt>gGt	p.D240G		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	240	Involved in CDK5RAP3-binding.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.D240G(1)									GGGAGACAGGATAAAGCTGTG	0.433																																					p.D240G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A719G	6						.						244.0	219.0	228.0					6																	96984183		2203	4300	6503	97090904	SO:0001583	missense	23376	exon8			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.719A>G	6.37:g.96984183A>G	ENSP00000358283:p.Asp240Gly		97090904	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787371	0.70337	.	.	ENSG00000014123	ENST00000369278	T	0.44083	0.93	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.43923	1.385	0.80722	D	1	P	0.39883	0.693	B	0.43950	0.437	T	0.05533	-1.0879	10	0.15952	T	0.53	-20.3563	14.4661	0.67485	1.0:0.0:0.0:0.0	.	240	O94874	UFL1_HUMAN	G	240	ENSP00000358283:D240G	ENSP00000358283:D240G	D	+	2	0	KIAA0776	97090904	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.612000	0.90909	2.100000	0.63781	0.477000	0.44152	GAT		0.433	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
GPR63	81491	broad.mit.edu	37	6	97246565	97246565	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:97246565T>A	ENST00000229955.3	-	2	1388	c.1043A>T	c.(1042-1044)aAc>aTc	p.N348I	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Missense_Mutation_p.N348I	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	348						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.N348I(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)		CTCAAAAAAGTTGTGCTGATA	0.433																																					p.N348I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1043T	6						.						104.0	94.0	98.0					6																	97246565		2203	4300	6503	97353286	SO:0001583	missense	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.1043A>T	6.37:g.97246565T>A	ENSP00000229955:p.Asn348Ile		97353286	NM_001143957	Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890752	0.33348	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.70045	-0.45;-0.45;-0.45	5.2	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.054024	0.64402	D	0.000001	T	0.34745	0.0908	N	0.14661	0.345	0.53688	D	0.99997	B	0.20368	0.044	B	0.26770	0.073	T	0.32052	-0.9921	10	0.59425	D	0.04	-9.2608	12.2649	0.54672	0.0:0.0:0.1422:0.8578	.	348	Q9BZJ6	GPR63_HUMAN	I	372;348;348;348	ENSP00000393170:N348I;ENSP00000229955:N348I;ENSP00000358273:N348I	ENSP00000229955:N348I	N	-	2	0	GPR63	97353286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	0.890000	0.36211	0.528000	0.53228	AAC		0.433	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2		
MMS22L	253714	broad.mit.edu	37	6	97613145	97613145	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:97613145C>G	ENST00000275053.4	-	21	3463	c.3198G>C	c.(3196-3198)aaG>aaC	p.K1066N	MMS22L_ENST00000369251.2_Missense_Mutation_p.K1026N	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1066					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.K1066N(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAATGCATTTCTTTAGAGATG	0.343																																					p.K1066N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3198C	6						.						102.0	103.0	102.0					6																	97613145		2203	4300	6503	97719866	SO:0001583	missense	253714	exon21				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3198G>C	6.37:g.97613145C>G	ENSP00000275053:p.Lys1066Asn		97719866	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	7.949	0.744457	0.15710	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.30448	1.53;1.53	5.79	2.89	0.33648	.	0.204723	0.48767	D	0.000179	T	0.07503	0.0189	L	0.40543	1.245	0.23886	N	0.996565	B;B	0.34015	0.435;0.435	B;B	0.27500	0.08;0.08	T	0.18304	-1.0341	10	0.72032	D	0.01	-19.5643	2.3358	0.04247	0.1176:0.4582:0.2069:0.2173	.	1026;1066	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	N	1066;1026	ENSP00000275053:K1066N;ENSP00000358254:K1026N	ENSP00000275053:K1066N	K	-	3	2	MMS22L	97719866	0.938000	0.31826	0.996000	0.52242	0.045000	0.14185	0.044000	0.13992	0.779000	0.33543	-0.137000	0.14449	AAG		0.343	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)cggfs	p.R304fs	AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					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 membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627																																					p.R303fs												.	.	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(2)|ovary(1)	c.907delC	6						.						60.0	70.0	66.0					6																	161560589		2203	4300	6503	161480579	SO:0001589	frameshift_variant	56895	exon8			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.907delC	6.37:g.161560589delG	ENSP00000314036:p.Arg304fs		161480579	NM_020133	B4DSF9|Q5TEF0	Frame_Shift_Del	DEL	ENST00000320285.4	37	CCDS5280.1																																																																																				0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133	
TBP	6908	broad.mit.edu	37	6	170878744	170878744	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr6:170878744T>C	ENST00000392092.2	+	6	1001	c.722T>C	c.(721-723)gTa>gCa	p.V241A	TBP_ENST00000540980.1_Missense_Mutation_p.V221A|TBP_ENST00000230354.6_Missense_Mutation_p.V241A	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	241					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V241A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		GCTAGAGTTGTACAGAAGTTG	0.403																																					p.V221A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T662C	6						.						104.0	102.0	102.0					6																	170878744		2203	4300	6503	170720669	SO:0001583	missense	6908	exon5			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.722T>C	6.37:g.170878744T>C	ENSP00000375942:p.Val241Ala		170720669	NM_001172085	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	37	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160698	0.78226	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	T;T;T	0.41065	1.01;1.01;1.01	6.17	6.17	0.99709	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.83953	2.67	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.68930	-0.5279	10	0.87932	D	0	-13.0853	16.8222	0.85835	0.0:0.0:0.0:1.0	.	241	P20226	TBP_HUMAN	A	241;221;241;218	ENSP00000375942:V241A;ENSP00000442132:V221A;ENSP00000230354:V241A	ENSP00000230354:V241A	V	+	2	0	TBP	170720669	1.000000	0.71417	0.956000	0.39512	0.972000	0.66771	7.549000	0.82163	2.371000	0.80710	0.533000	0.62120	GTA		0.403	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
SLC12A9	56996	broad.mit.edu	37	7	100453395	100453395	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:100453395C>T	ENST00000354161.3	+	4	509	c.384C>T	c.(382-384)aaC>aaT	p.N128N	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Silent_p.N128N|SLC12A9_ENST00000428758.1_Silent_p.N128N	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	128					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.N128N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCTGGCTAACGTCTGTGGCT	0.617																																					p.N128N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C384T	7						.						172.0	149.0	157.0					7																	100453395		2203	4300	6503	100291331	SO:0001819	synonymous_variant	56996	exon4			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.384C>T	7.37:g.100453395C>T			100291331	NM_020246	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	De_novo_Start_OutOfFrame	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																				0.617	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	
PLOD3	8985	broad.mit.edu	37	7	100849571	100849571	+	Silent	SNP	G	G	A	rs552907007		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:100849571G>A	ENST00000223127.3	-	19	2606	c.2208C>T	c.(2206-2208)gtC>gtT	p.V736V		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	736	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.V736V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTCAGGGGTCGACAAAGGACA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		14944	0.0		0.0	False		,,,				2504	0.001				p.V736V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2208T	7						.						128.0	99.0	108.0					7																	100849571		2203	4300	6503	100636291	SO:0001819	synonymous_variant	8985	exon19			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.2208C>T	7.37:g.100849571G>A			100636291	NM_001084	B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	G	8.921	0.961065	0.18583	.	.	ENSG00000106397	ENST00000454310	.	.	.	4.78	-9.56	0.00566	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57021	-0.7882	4	.	.	.	-44.6688	9.376	0.38283	0.4833:0.3936:0.1231:0.0	.	.	.	.	L	262	.	.	S	-	2	0	PLOD3	100636291	0.000000	0.05858	0.686000	0.30086	0.993000	0.82548	-2.772000	0.00779	-1.759000	0.01313	-0.258000	0.10820	TCG		0.642	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1		
CLDN15	24146	broad.mit.edu	37	7	100880852	100880852	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:100880852G>A	ENST00000401528.1	-	2	1136	c.11C>T	c.(10-12)gCt>gTt	p.A4V	CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Missense_Mutation_p.A4V|FIS1_ENST00000482199.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	4					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A4V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTTCCACAGCCATCGACAT	0.627																																					p.A4V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11T	7						.						90.0	73.0	78.0					7																	100880852		2203	4300	6503	100667572	SO:0001583	missense	24146	exon1			AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.11C>T	7.37:g.100880852G>A	ENSP00000385300:p.Ala4Val		100667572	NM_014343	B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265519	0.59431	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	D;D;T;T	0.85484	-1.99;-1.99;0.48;0.21	4.84	3.96	0.45880	.	0.301724	0.36409	N	0.002603	D	0.82884	0.5134	L	0.52364	1.645	0.26258	N	0.978616	B;P	0.37207	0.213;0.587	B;B	0.42245	0.262;0.381	T	0.76192	-0.3049	10	0.52906	T	0.07	.	11.3012	0.49306	0.0907:0.0:0.9093:0.0	.	4;4	Q96FX9;P56746	.;CLD15_HUMAN	V	4	ENSP00000308870:A4V;ENSP00000385300:A4V;ENSP00000398418:A4V;ENSP00000390230:A4V	ENSP00000308870:A4V	A	-	2	0	CLDN15	100667572	1.000000	0.71417	0.187000	0.23214	0.544000	0.35116	3.320000	0.51991	1.173000	0.42796	0.563000	0.77884	GCT		0.627	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343	
CUX1	1523	broad.mit.edu	37	7	101459361	101459361	+	5'Flank	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:101459361A>G	ENST00000292535.7	+	0	0				CUX1_ENST00000546411.2_5'Flank|CUX1_ENST00000437600.4_Silent_p.L17L|CUX1_ENST00000292538.4_Silent_p.L17L|CUX1_ENST00000549414.2_5'Flank|CUX1_ENST00000556210.1_5'Flank|CUX1_ENST00000550008.2_5'Flank|CUX1_ENST00000393824.3_Silent_p.L17L|CUX1_ENST00000547394.2_Silent_p.L17L|CUX1_ENST00000425244.2_Silent_p.L17L|CUX1_ENST00000360264.3_Silent_p.L17L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L17L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCTTTGATTTACAGCAGCTGC	0.667																																					p.L17L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A51G	7						.						72.0	69.0	70.0					7																	101459361		2203	4300	6503	101246081	SO:0001631	upstream_gene_variant	1523	exon1			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129		7.37:g.101459361A>G	Exception_encountered		101246081	NM_181500	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	CCDS5721.1																																																																																				0.667	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
CUX1	1523	broad.mit.edu	37	7	101758536	101758536	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:101758536T>C	ENST00000292535.7	+	8	695	c.657T>C	c.(655-657)gaT>gaC	p.D219D	CUX1_ENST00000546411.2_Silent_p.D219D|CUX1_ENST00000550008.2_Silent_p.D219D|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.D184D|CUX1_ENST00000360264.3_Silent_p.D230D|CUX1_ENST00000556210.1_Silent_p.D219D|CUX1_ENST00000292538.4_Silent_p.D230D|CUX1_ENST00000547394.2_Silent_p.D214D|CUX1_ENST00000393824.3_Silent_p.D193D|CUX1_ENST00000437600.4_Silent_p.D230D|CUX1_ENST00000549414.2_Silent_p.D219D	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	219					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.D230D(1)|p.D219D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAAATACGATGAAGAAACTA	0.378																																					p.D219D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T657C	7						.						116.0	111.0	113.0					7																	101758536		2203	4300	6503	101545256	SO:0001819	synonymous_variant	1523	exon8			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.657T>C	7.37:g.101758536T>C			101545256	NM_181552	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	CCDS5721.1																																																																																				0.378	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
LAMB4	22798	broad.mit.edu	37	7	107732150	107732150	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:107732150G>A	ENST00000388781.3	-	14	1705	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	LAMB4_ENST00000414450.2_Missense_Mutation_p.P541L|LAMB4_ENST00000205386.4_Missense_Mutation_p.P541L|LAMB4_ENST00000388780.3_Missense_Mutation_p.P541L|LAMB4_ENST00000418464.1_Missense_Mutation_p.P541L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	541	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.P541L(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAAGTAGCCAGGGGCTGGTTC	0.488																																					p.P541L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1622T	7						.						90.0	87.0	88.0					7																	107732150		2203	4300	6503	107519386	SO:0001583	missense	22798	exon14			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1622C>T	7.37:g.107732150G>A	ENSP00000373433:p.Pro541Leu		107519386	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596867	0.66332	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.69	4.69	0.59074	EGF-like, laminin (3);	0.000000	0.47093	D	0.000249	T	0.72145	0.3424	L	0.53729	1.69	0.53005	D	0.999965	D	0.89917	1.0	D	0.75020	0.985	T	0.72944	-0.4138	10	0.54805	T	0.06	.	10.9715	0.47442	0.0865:0.0:0.9135:0.0	.	541	A4D0S4	LAMB4_HUMAN	L	541	ENSP00000205386:P541L;ENSP00000373433:P541L;ENSP00000373432:P541L;ENSP00000402353:P541L;ENSP00000402265:P541L	ENSP00000205386:P541L	P	-	2	0	LAMB4	107519386	1.000000	0.71417	0.508000	0.27688	0.584000	0.36387	6.918000	0.75788	2.421000	0.82119	0.655000	0.94253	CCT		0.488	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
PNPLA8	50640	broad.mit.edu	37	7	108119699	108119699	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:108119699C>A	ENST00000422087.1	-	11	2409	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	PNPLA8_ENST00000436062.1_Missense_Mutation_p.R668I|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R568I|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R668I|PNPLA8_ENST00000426128.2_Missense_Mutation_p.R606I|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R606I	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	668					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.R668I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TACCGTGTTTCTCACATCACT	0.408																																					p.R668I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2003T	7						.						212.0	175.0	188.0					7																	108119699		2203	4300	6503	107906935	SO:0001583	missense	50640	exon11			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.2003G>T	7.37:g.108119699C>A	ENSP00000410804:p.Arg668Ile		107906935	NM_015723	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577608	0.45902	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.6	3.79	0.43588	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.350338	0.32134	N	0.006526	T	0.69575	0.3126	L	0.43757	1.38	0.37871	D	0.930077	B	0.32010	0.351	B	0.38106	0.265	T	0.70124	-0.4958	10	0.49607	T	0.09	.	5.263	0.15584	0.0:0.6159:0.0:0.3841	.	668	Q9NP80	PLPL8_HUMAN	I	603;668;606;668;568;668;568	ENSP00000257694:R668I;ENSP00000373380:R606I;ENSP00000410804:R668I;ENSP00000387789:R568I;ENSP00000406779:R668I;ENSP00000402274:R568I	ENSP00000257694:R668I	R	-	2	0	PNPLA8	107906935	0.810000	0.29049	0.969000	0.41365	0.543000	0.35085	0.850000	0.27737	1.347000	0.45714	0.650000	0.86243	AGA		0.408	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
MET	4233	broad.mit.edu	37	7	116339711	116339711	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:116339711G>A	ENST00000318493.6	+	2	760	c.573G>A	c.(571-573)cgG>cgA	p.R191R	MET_ENST00000397752.3_Silent_p.R191R|MET_ENST00000436117.2_Silent_p.R191R			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R191R(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAAGGACCGGTTCATCAACT	0.453			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.R191R			Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G573A	7						.						118.0	117.0	117.0					7																	116339711		1931	4119	6050	116126947	SO:0001819	synonymous_variant	4233	exon2	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.573G>A	7.37:g.116339711G>A			116126947	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																				0.453	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
CFTR	1080	broad.mit.edu	37	7	117307066	117307066	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:117307066C>A	ENST00000003084.6	+	27	4479	c.4347C>A	c.(4345-4347)ctC>ctA	p.L1449L	CFTR_ENST00000454343.1_Silent_p.L1388L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1449					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.L1449L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GGGTGAAGCTCTTTCCCCACC	0.522									Cystic Fibrosis																												p.L1449L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4347A	7						.						58.0	53.0	54.0					7																	117307066		2203	4300	6503	117094302	SO:0001819	synonymous_variant	1080	exon27	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4347C>A	7.37:g.117307066C>A			117094302	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																				0.522	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CALU	813	broad.mit.edu	37	7	128394498	128394498	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:128394498G>A	ENST00000249364.4	+	3	506	c.404G>A	c.(403-405)gGc>gAc	p.G135D	CALU_ENST00000535011.2_Missense_Mutation_p.G135D|CALU_ENST00000535623.1_Missense_Mutation_p.G143D|CALU_ENST00000479257.1_Missense_Mutation_p.G143D|CALU_ENST00000449187.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000542996.2_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	135	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)	p.G135D(1)		kidney(2)|large_intestine(3)|lung(5)	10						GCCACCTACGGCTACGTTTTA	0.483																																					p.G135D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404A	7						.						85.0	77.0	79.0					7																	128394498		2203	4300	6503	128181734	SO:0001583	missense	813	exon3			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.404G>A	7.37:g.128394498G>A	ENSP00000249364:p.Gly135Asp		128181734	NM_001219	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956966	0.92726	.	.	ENSG00000128595	ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	T;T;T;T	0.74526	-0.85;3.19;2.52;2.5	5.96	5.96	0.96718	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86535	0.5956	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85314	0.1080	10	0.42905	T	0.14	-6.1835	17.9055	0.88917	0.0:0.0:1.0:0.0	.	135	O43852	CALU_HUMAN	D	143;135;135;135;143	ENSP00000439139:G143D;ENSP00000442110:G135D;ENSP00000249364:G135D;ENSP00000420381:G143D	ENSP00000249364:G135D	G	+	2	0	CALU	128181734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.827000	0.97445	0.655000	0.94253	GGC		0.483	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219	
IRF5	3663	broad.mit.edu	37	7	128582229	128582229	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:128582229G>T	ENST00000402030.2	+	2	166	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	IRF5_ENST00000249375.4_Missense_Mutation_p.G32W|IRF5_ENST00000357234.5_Missense_Mutation_p.G32W|IRF5_ENST00000473745.1_Missense_Mutation_p.G32W|IRF5_ENST00000477535.1_Missense_Mutation_p.G32W	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	32					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G32W(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCAGTACCCAGGGCTTCAATG	0.602																																					p.G32W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94T	7						.						50.0	56.0	54.0					7																	128582229		2203	4300	6503	128369465	SO:0001583	missense	3663	exon2				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.94G>T	7.37:g.128582229G>T	ENSP00000385352:p.Gly32Trp		128369465	NM_001098627	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778120	0.90195	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000467002;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28;-6.16;-6.28;-6.28;-6.28;-6.28	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.105109	0.42548	D	0.000698	D	0.99753	0.9901	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0	D	0.97247	0.9895	10	0.87932	D	0	.	16.702	0.85351	0.0:0.0:1.0:0.0	.	32;32;32;32;32;32;32;32	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	W	32	ENSP00000418037:G32W;ENSP00000349770:G32W;ENSP00000419950:G32W;ENSP00000417770:G32W;ENSP00000419056:G32W;ENSP00000385352:G32W;ENSP00000249375:G32W;ENSP00000417454:G32W;ENSP00000419149:G32W	ENSP00000249375:G32W	G	+	1	0	IRF5	128369465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.441000	0.97557	2.543000	0.85770	0.561000	0.74099	GGG		0.602	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627	
MKLN1	4289	broad.mit.edu	37	7	131151035	131151035	+	Splice_Site	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:131151035G>A	ENST00000352689.6	+	15	1829	c.1789G>A	c.(1789-1791)Gtt>Att	p.V597I	MKLN1_ENST00000421797.2_Splice_Site_p.V505I|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	597					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.V597I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTTATTATAGGTTCATTACTT	0.358																																					p.V597I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1789A	7						.						129.0	132.0	131.0					7																	131151035		2203	4300	6503	130801575	SO:0001630	splice_region_variant	4289	exon15			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1789-1G>A	7.37:g.131151035G>A			130801575	NM_013255	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788990	0.90367	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.28069	1.63;1.63	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	L	0.48642	1.525	0.80722	D	1	B;D;D;D	0.58970	0.073;0.976;0.976;0.984	B;P;P;P	0.54889	0.052;0.551;0.551;0.763	T	0.07888	-1.0749	9	.	.	.	-12.7333	18.572	0.91138	0.0:0.0:1.0:0.0	.	597;574;505;87	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	I	505;597;87	ENSP00000398094:V505I;ENSP00000323527:V597I	.	V	+	1	0	MKLN1	130801575	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.450000	0.97607	2.636000	0.89361	0.655000	0.94253	GTT		0.358	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255	Missense_Mutation
CHRM2	1129	broad.mit.edu	37	7	136700630	136700630	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:136700630A>C	ENST00000445907.2	+	3	1546	c.1018A>C	c.(1018-1020)Act>Cct	p.T340P	hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T340P|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.T340P|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T340P|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.T340P|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.T340P	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	340					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T340P(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATGTACCCCAACTAATACCAC	0.473																																					p.T340P												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A1018C	7						.						95.0	95.0	95.0					7																	136700630		2203	4300	6503	136351170	SO:0001583	missense	1129	exon4				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1018A>C	7.37:g.136700630A>C	ENSP00000399745:p.Thr340Pro		136351170	NM_000739	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	A	4.382	0.070543	0.08436	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.4	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.378699	0.29480	N	0.012024	T	0.35158	0.0922	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.12578	-1.0542	10	0.30854	T	0.27	-10.7224	4.4119	0.11438	0.615:0.0:0.1372:0.2477	.	340	P08172	ACM2_HUMAN	P	340	ENSP00000399745:T340P;ENSP00000415386:T340P;ENSP00000319984:T340P;ENSP00000380733:T340P;ENSP00000384937:T340P;ENSP00000384401:T340P	ENSP00000319984:T340P	T	+	1	0	CHRM2	136351170	0.003000	0.15002	0.011000	0.14972	0.923000	0.55619	0.981000	0.29526	0.021000	0.15133	0.533000	0.62120	ACT		0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
DGKI	9162	broad.mit.edu	37	7	137263025	137263025	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:137263025G>T	ENST00000288490.5	-	16	1689	c.1689C>A	c.(1687-1689)ttC>ttA	p.F563L	DGKI_ENST00000424189.2_Missense_Mutation_p.F563L|DGKI_ENST00000453654.2_Missense_Mutation_p.F263L|DGKI_ENST00000446122.1_Missense_Mutation_p.F563L	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	563					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.F563L(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCCCTGCATAGAACATTTTAT	0.328																																					p.F563L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1689A	7						.						65.0	65.0	65.0					7																	137263025		2202	4298	6500	136913565	SO:0001583	missense	9162	exon16			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1689C>A	7.37:g.137263025G>T	ENSP00000288490:p.Phe563Leu		136913565	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466286	0.63625	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.26957	1.7;1.7;1.7	5.15	3.17	0.36434	Diacylglycerol kinase, accessory domain (2);	0.050018	0.85682	N	0.000000	T	0.19644	0.0472	N	0.13352	0.335	0.51482	D	0.999928	P;P	0.41131	0.584;0.739	P;P	0.49528	0.46;0.614	T	0.04915	-1.0918	10	0.37606	T	0.19	.	6.0617	0.19842	0.4549:0.0:0.5451:0.0	.	263;563	E9PFX6;O75912	.;DGKI_HUMAN	L	263;511;563;563;563	ENSP00000392161:F263L;ENSP00000288490:F563L;ENSP00000399131:F563L	ENSP00000288490:F563L	F	-	3	2	DGKI	136913565	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.293000	0.43558	0.579000	0.29504	0.462000	0.41574	TTC		0.328	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
CREB3L2	64764	broad.mit.edu	37	7	137600659	137600659	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:137600659G>A	ENST00000330387.6	-	3	770	c.419C>T	c.(418-420)cCg>cTg	p.P140L	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P140L|CREB3L2_ENST00000452463.1_Missense_Mutation_p.P140L|CREB3L2_ENST00000458726.1_Missense_Mutation_p.P77L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	140					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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)|transcription regulatory region DNA binding (GO:0044212)	p.P140L(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGTGACAGACGGAACGAGTCC	0.498			T	FUS	fibromyxoid sarcoma																																p.P140L			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419T	7						.						201.0	173.0	182.0					7																	137600659		2203	4300	6503	137251199	SO:0001583	missense	64764	exon3			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.419C>T	7.37:g.137600659G>A	ENSP00000329140:p.Pro140Leu		137251199	NM_194071	Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	CCDS34760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.320373|3.320373	0.60634|0.60634	.|.	.|.	ENSG00000182158|ENSG00000182158	ENST00000544877|ENST00000330387;ENST00000417785;ENST00000456390;ENST00000452463;ENST00000458726;ENST00000420629	.|T;T;T;T;T	.|0.70282	.|0.2;-0.21;0.73;0.68;-0.47	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.335149	.|0.33161	.|N	.|0.005212	.|D	.|0.83825	.|0.5338	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	.|T	.|0.83285	.|-0.0036	.|10	.|0.72032	.|D	.|0.01	.|-13.3866	20.4745|20.4745	0.99168|0.99168	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|140;140;140	.|Q70SY1-3;Q70SY1-2;Q70SY1	.|.;.;CR3L2_HUMAN	.|L	-1|140;140;140;140;77;133	.|ENSP00000329140:P140L;ENSP00000403550:P140L;ENSP00000410314:P140L;ENSP00000388917:P77L;ENSP00000402889:P133L	.|ENSP00000329140:P140L	.|P	-|-	.|2	.|0	CREB3L2|CREB3L2	137251199|137251199	1.000000|1.000000	0.71417|0.71417	0.733000|0.733000	0.30861|0.30861	0.118000|0.118000	0.20060|0.20060	6.367000|6.367000	0.73099|0.73099	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	.|CCG		0.498	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	
KIAA1549	57670	broad.mit.edu	37	7	138522671	138522671	+	Missense_Mutation	SNP	C	C	T	rs370670659		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:138522671C>T	ENST00000422774.1	-	20	5881	c.5833G>A	c.(5833-5835)Gtg>Atg	p.V1945M	KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1879M|KIAA1549_ENST00000440172.1_Missense_Mutation_p.V1929M|TMEM213_ENST00000413208.1_Missense_Mutation_p.T71M			Q9HCM3	K1549_HUMAN	KIAA1549	1945						integral component of membrane (GO:0016021)		p.V1879M(2)|p.V1945M(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAGTTCTGCACGGTGCTCTGT	0.572			O	BRAF	pilocytic astrocytoma																																p.V1945M	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G5833A	7						.	C	MET/VAL,MET/VAL	1,3915		0,1,1957	46.0	48.0	47.0		5833,5785	4.7	1.0	7		47	1,8289		0,1,4144	yes	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	21,21	0,2,6101	TT,TC,CC		0.0121,0.0255,0.0164	possibly-damaging,possibly-damaging	1945/1951,1929/1935	138522671	2,12204	1958	4145	6103	138173211	SO:0001583	missense	57670	exon20				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5833G>A	7.37:g.138522671C>T	ENSP00000416040:p.Val1945Met		138173211	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.68|13.68	2.309442|2.309442	0.40895|0.40895	2.55E-4|2.55E-4	1.21E-4|1.21E-4	ENSG00000214128|ENSG00000122778	ENST00000413208|ENST00000440172;ENST00000242365;ENST00000422774	.|T;T;T	.|0.30981	.|1.51;1.52;1.78	5.54|5.54	4.66|4.66	0.58398|0.58398	.|.	.|0.191499	.|0.45126	.|D	.|0.000386	T|T	0.25680|0.25680	0.0625|0.0625	N|N	0.20986|0.20986	0.625|0.625	0.45439|0.45439	D|D	0.998416|0.998416	.|D;B;D;B	.|0.60575	.|0.979;0.028;0.988;0.028	.|P;B;P;B	.|0.50934	.|0.452;0.013;0.654;0.013	T|T	0.02829|0.02829	-1.1105|-1.1105	6|10	0.87932|0.18276	D|T	0|0.48	.|.	9.4601|9.4601	0.38778|0.38778	0.0:0.8411:0.0:0.1589|0.0:0.8411:0.0:0.1589	.|.	.|1945;729;1929;713	.|Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	.|K1549_HUMAN;.;.;.	M|M	71|1929;1879;1945	.|ENSP00000406661:V1929M;ENSP00000242365:V1879M;ENSP00000416040:V1945M	ENSP00000401570:T71M|ENSP00000242365:V1879M	T|V	+|-	2|1	0|0	TMEM213|KIAA1549	138173211|138173211	0.990000|0.990000	0.36364|0.36364	0.963000|0.963000	0.40424|0.40424	0.986000|0.986000	0.74619|0.74619	2.792000|2.792000	0.47837|0.47837	1.329000|1.329000	0.45376|0.45376	0.655000|0.655000	0.94253|0.94253	ACG|GTG		0.572	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
HIPK2	28996	broad.mit.edu	37	7	139257865	139257865	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:139257865G>T	ENST00000406875.3	-	15	3499	c.3405C>A	c.(3403-3405)gcC>gcA	p.A1135A	HIPK2_ENST00000428878.2_Silent_p.A1108A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1135	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.A1135A(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGCTGGGTAGGCAGTGTGCT	0.697																																					p.A1135A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3405A	7						.						25.0	30.0	28.0					7																	139257865		2143	4241	6384	138908405	SO:0001819	synonymous_variant	28996	exon15			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3405C>A	7.37:g.139257865G>T			138908405	NM_022740	Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37																																																																																					0.697	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
DENND2A	27147	broad.mit.edu	37	7	140221802	140221802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:140221802C>T	ENST00000275884.6	-	17	3181	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	DENND2A_ENST00000496613.1_Missense_Mutation_p.E922K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E922K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	922	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E922K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTCACGCTCGCCCGACGTC	0.577																																					p.E922K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2764A	7						.						53.0	57.0	56.0					7																	140221802		2042	4198	6240	139868271	SO:0001583	missense	27147	exon16			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2764G>A	7.37:g.140221802C>T	ENSP00000275884:p.Glu922Lys		139868271	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513492	0.44660	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613	T;T;T	0.44083	0.93;0.93;0.93	4.73	4.73	0.59995	dDENN (3);	0.283106	0.28301	U	0.015859	T	0.43853	0.1266	L	0.55990	1.75	0.37015	D	0.895921	B	0.19583	0.037	B	0.24701	0.055	T	0.50423	-0.8830	10	0.52906	T	0.07	-12.6507	17.9332	0.89005	0.0:1.0:0.0:0.0	.	922	Q9ULE3	DEN2A_HUMAN	K	922	ENSP00000275884:E922K;ENSP00000442245:E922K;ENSP00000419654:E922K	ENSP00000275884:E922K	E	-	1	0	DENND2A	139868271	1.000000	0.71417	0.997000	0.53966	0.275000	0.26752	6.835000	0.75344	2.456000	0.83038	0.557000	0.71058	GAG		0.577	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
SSBP1	6742	broad.mit.edu	37	7	141443725	141443725	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:141443725T>C	ENST00000481508.1	+	5	685	c.250T>C	c.(250-252)Tgg>Cgg	p.W84R	SSBP1_ENST00000265304.6_Missense_Mutation_p.W84R|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.W84R|SSBP1_ENST00000498107.1_Missense_Mutation_p.W84R|SSBP1_ENST00000465582.1_Missense_Mutation_p.W84R	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	84	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.W84R(1)		large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					AAAGACAACATGGCACAGAAT	0.398																																					p.W84R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T250C	7						.						82.0	78.0	80.0					7																	141443725		2203	4300	6503	141090194	SO:0001583	missense	6742	exon5			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"""single-stranded DNA-binding protein"", ""single-stranded DNA binding protein 1"""			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.250T>C	7.37:g.141443725T>C	ENSP00000419665:p.Trp84Arg		141090194	NM_003143		Missense_Mutation	SNP	ENST00000481508.1	37	CCDS5866.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475421	0.84640	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.69	5.69	0.88448	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90556	0.4512	9	0.87932	D	0	-7.557	15.9518	0.79846	0.0:0.0:0.0:1.0	.	84;84	B7Z268;Q04837	.;SSBP_HUMAN	R	84	.	ENSP00000265304:W84R	W	+	1	0	SSBP1	141090194	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	5.670000	0.68088	2.180000	0.69256	0.533000	0.62120	TGG		0.398	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349187.1	NM_003143	
MGAM	8972	broad.mit.edu	37	7	141799531	141799531	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:141799531A>C	ENST00000549489.2	+	44	5275	c.5180A>C	c.(5179-5181)cAc>cCc	p.H1727P	MGAM_ENST00000475668.2_Missense_Mutation_p.H2623P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1727	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.H1727P(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGAACACCCACTTAAGGTAA	0.478																																					p.H1727P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5180C	7						.						50.0	49.0	49.0					7																	141799531		1910	4121	6031	141446000	SO:0001583	missense	8972	exon44			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5180A>C	7.37:g.141799531A>C	ENSP00000447378:p.His1727Pro		141446000	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266893	0.40095	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89196	-2.48	5.64	0.244	0.15507	.	.	.	.	.	D	0.85553	0.5723	M	0.63843	1.955	0.09310	N	1	P	0.35050	0.482	B	0.40256	0.324	T	0.74589	-0.3615	9	0.36615	T	0.2	.	3.9957	0.09558	0.5819:0.0:0.1554:0.2627	.	1727	O43451	MGA_HUMAN	P	1727;2624	ENSP00000447378:H1727P	ENSP00000373973:H1727P	H	+	2	0	MGAM	141446000	0.000000	0.05858	0.470000	0.27216	0.669000	0.39330	0.570000	0.23653	0.391000	0.25143	0.482000	0.46254	CAC		0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
MGAM	8972	broad.mit.edu	37	7	141805649	141805649	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:141805649C>T	ENST00000549489.2	+	48	5627	c.5532C>T	c.(5530-5532)agC>agT	p.S1844S	MGAM_ENST00000475668.2_Silent_p.S2740S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1844					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1844S(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAACATCAGCCTACATAATT	0.353																																					p.S1844S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5532T	7						.						133.0	125.0	127.0					7																	141805649		1848	4105	5953	141452118	SO:0001819	synonymous_variant	8972	exon48			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5532C>T	7.37:g.141805649C>T			141452118	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.353	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
PIP	5304	broad.mit.edu	37	7	142832342	142832342	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:142832342G>A	ENST00000291009.3	+	2	191	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	51					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.E51K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TCCAAATGACGAAGTCACTGC	0.423																																					p.E51K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G151A	7						.						67.0	60.0	62.0					7																	142832342		2203	4299	6502	142542464	SO:0001583	missense	5304	exon2				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.151G>A	7.37:g.142832342G>A	ENSP00000291009:p.Glu51Lys		142542464	NM_002652	A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107744	0.56291	.	.	ENSG00000159763	ENST00000291009	T	0.15372	2.43	4.55	3.65	0.41850	.	0.481856	0.19226	N	0.119528	T	0.33265	0.0857	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.63283	0.913	T	0.05435	-1.0885	10	0.72032	D	0.01	.	9.8542	0.41075	0.0:0.0:0.7954:0.2046	.	51	P12273	PIP_HUMAN	K	51	ENSP00000291009:E51K	ENSP00000291009:E51K	E	+	1	0	PIP	142542464	0.001000	0.12720	0.014000	0.15608	0.009000	0.06853	0.762000	0.26503	1.237000	0.43756	0.650000	0.86243	GAA		0.423	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652	
ARHGEF5	7984	broad.mit.edu	37	7	144060235	144060235	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:144060235C>A	ENST00000056217.5	+	2	647	c.473C>A	c.(472-474)tCt>tAt	p.S158Y	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	158					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S158Y(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGACTTACTTCTTTGACATTG	0.498																																					p.S158Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473A	7						.						14.0	16.0	15.0					7																	144060235		1639	3582	5221	143691168	SO:0001583	missense	7984	exon2			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.473C>A	7.37:g.144060235C>A	ENSP00000056217:p.Ser158Tyr		143691168	NM_005435	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389603	0.42410	.	.	ENSG00000050327	ENST00000056217	T	0.75589	-0.95	4.16	4.16	0.48862	.	0.819348	0.09976	U	0.731655	T	0.75903	0.3913	L	0.54323	1.7	0.80722	D	1	D	0.55385	0.971	P	0.49561	0.615	T	0.72047	-0.4408	9	.	.	.	.	11.8195	0.52230	0.0:1.0:0.0:0.0	.	158	Q12774	ARHG5_HUMAN	Y	158	ENSP00000056217:S158Y	.	S	+	2	0	ARHGEF5	143691168	0.008000	0.16893	0.006000	0.13384	0.014000	0.08584	2.956000	0.49129	2.156000	0.67533	0.650000	0.86243	TCT		0.498	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
GIMAP6	474344	broad.mit.edu	37	7	150324837	150324837	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:150324837G>A	ENST00000328902.5	-	3	1065	c.849C>T	c.(847-849)caC>caT	p.H283H	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	283						cytosol (GO:0005829)	GTP binding (GO:0005525)	p.H283H(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGGCATCTGTGGGCTTCCT	0.582																																					p.H283H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	7						.						84.0	73.0	77.0					7																	150324837		2203	4300	6503	149955770	SO:0001819	synonymous_variant	474344	exon3			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.849C>T	7.37:g.150324837G>A			149955770	NM_024711	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	ENST00000328902.5	37	CCDS34778.1																																																																																				0.582	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
AOC1	26	broad.mit.edu	37	7	150555050	150555050	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:150555050G>A	ENST00000493429.1	+	4	2076	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.G498S|AOC1_ENST00000360937.4_Missense_Mutation_p.G498S|AOC1_ENST00000416793.2_Missense_Mutation_p.G498S			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	498					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.G498S(1)								Amiloride(DB00594)	GCTGCGCCACGGCACTCGCCT	0.587																																					p.G498S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1492A	7						.						56.0	63.0	61.0					7																	150555050		2171	4264	6435	150185983	SO:0001583	missense	26	exon2			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1492G>A	7.37:g.150555050G>A	ENSP00000418614:p.Gly498Ser		150185983	NM_001091	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888656	0.91814	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.26	5.26	0.73747	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.86178	2.8	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.74674	0.959;0.984	T	0.06092	-1.0846	10	0.62326	D	0.03	-24.6513	16.4044	0.83654	0.0:0.0:1.0:0.0	.	498;498	C9J690;P19801	.;ABP1_HUMAN	S	498;498;498;24;498;374	ENSP00000418614:G498S;ENSP00000418328:G498S;ENSP00000354193:G498S;ENSP00000411613:G498S	ENSP00000354193:G498S	G	+	1	0	ABP1	150185983	1.000000	0.71417	0.452000	0.26994	0.754000	0.42855	6.074000	0.71253	2.735000	0.93741	0.561000	0.74099	GGC		0.587	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091	
CHPF2	54480	broad.mit.edu	37	7	150935141	150935141	+	Missense_Mutation	SNP	G	G	A	rs374488900		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:150935141G>A	ENST00000035307.2	+	4	3206	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.A557T	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	565					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)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.A565T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGCCTGGCTCGCTGTGCGAGC	0.617																																					p.A565T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693A	7						.	G	THR/ALA	0,4406		0,0,2203	31.0	34.0	33.0		1693	4.7	0.7	7		33	1,8597	1.2+/-3.3	0,1,4298	no	missense	CHPF2	NM_019015.1	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	565/773	150935141	1,13003	2203	4299	6502	150566074	SO:0001583	missense	54480	exon4			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1693G>A	7.37:g.150935141G>A	ENSP00000035307:p.Ala565Thr		150566074	NM_019015	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286106	0.59867	0.0	1.16E-4	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.15603	2.41;2.41	4.71	4.71	0.59529	.	0.146062	0.64402	D	0.000011	T	0.07728	0.0194	N	0.08118	0	0.43924	D	0.996577	P;P	0.47677	0.803;0.899	B;B	0.38683	0.279;0.196	T	0.12167	-1.0558	10	0.42905	T	0.14	-10.3021	8.0455	0.30547	0.1112:0.0:0.8888:0.0	.	565;557	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	T	557;565;565	ENSP00000418914:A557T;ENSP00000035307:A565T	ENSP00000035307:A565T	A	+	1	0	CHPF2	150566074	1.000000	0.71417	0.679000	0.29978	0.848000	0.48234	5.057000	0.64294	2.440000	0.82611	0.585000	0.79938	GCT		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015	
SMARCD3	6604	broad.mit.edu	37	7	150939031	150939031	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:150939031C>T	ENST00000262188.8	-	7	1119	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	SMARCD3_ENST00000392811.2_Missense_Mutation_p.G224S|SMARCD3_ENST00000356800.2_Missense_Mutation_p.G224S|SMARCD3_ENST00000477169.1_5'Flank|RP4-548D19.3_ENST00000607902.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	237					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G224S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTGGAAGCCGTCCGTCTCC	0.642																																					p.G224S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670A	7						.						52.0	38.0	43.0					7																	150939031		2203	4300	6503	150569964	SO:0001583	missense	6604	exon8			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.709G>A	7.37:g.150939031C>T	ENSP00000262188:p.Gly237Ser		150569964	NM_003078	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079856	0.94050	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.62232	0.04;0.04;0.04	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.81678	0.4873	M	0.85099	2.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.996;1.0	D	0.84469	0.0598	10	0.87932	D	0	-27.2292	16.9679	0.86291	0.0:1.0:0.0:0.0	.	237;237;224;237	B7Z4U8;B7ZA58;Q6STE5-2;Q6STE5	.;.;.;SMRD3_HUMAN	S	237;224;224;189	ENSP00000262188:G237S;ENSP00000376558:G224S;ENSP00000349254:G224S	ENSP00000262188:G237S	G	-	1	0	SMARCD3	150569964	1.000000	0.71417	0.941000	0.38009	0.821000	0.46438	7.818000	0.86416	2.595000	0.87683	0.655000	0.94253	GGC		0.642	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801	
KMT2C	58508	broad.mit.edu	37	7	151864307	151864307	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:151864307T>C	ENST00000262189.6	-	42	9892	c.9674A>G	c.(9673-9675)gAa>gGa	p.E3225G	KMT2C_ENST00000355193.2_Missense_Mutation_p.E3225G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3225	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E3225G(2)									CTCTGGAAATTCACGCCCAGC	0.408																																					p.E3225G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A9674G	7						.						148.0	135.0	139.0					7																	151864307		2203	4300	6503	151495240	SO:0001583	missense	58508	exon42			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9674A>G	7.37:g.151864307T>C	ENSP00000262189:p.Glu3225Gly		151495240	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.060613|4.060613	0.76074|0.76074	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.91351|.	-2.82;-2.83|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.46758|.	D|.	0.000275|.	T|.	0.49081|.	0.1536|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	0.995;0.947;1.0|.	D;D;D|.	0.87578|.	0.957;0.97;0.998|.	T|.	0.46569|.	-0.9182|.	10|.	0.87932|.	D|.	0|.	.|.	16.1946|16.1946	0.82018|0.82018	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3225;2286;3225|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	G|W	3225|730	ENSP00000262189:E3225G;ENSP00000347325:E3225G|.	ENSP00000262189:E3225G|.	E|X	-|-	2|3	0|0	MLL3|MLL3	151495240|151495240	1.000000|1.000000	0.71417|0.71417	0.827000|0.827000	0.32855|0.32855	0.991000|0.991000	0.79684|0.79684	7.997000|7.997000	0.88414|0.88414	2.228000|2.228000	0.72767|0.72767	0.528000|0.528000	0.53228|0.53228	GAA|TGA		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
DPP6	1804	broad.mit.edu	37	7	154645512	154645512	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:154645512G>T	ENST00000377770.3	+	17	1830	c.1689G>T	c.(1687-1689)acG>acT	p.T563T	DPP6_ENST00000427557.1_Silent_p.T456T|DPP6_ENST00000404039.1_Silent_p.T499T|DPP6_ENST00000332007.3_Silent_p.T501T|RP11-476H24.1_ENST00000448767.1_RNA			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	563					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.T499T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTATGGTGACGGTGCACAACA	0.413																																					p.T499T	NSCLC(125;1384 1783 2490 7422 34254)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1497T	7						.						186.0	166.0	172.0					7																	154645512		1889	4110	5999	154276445	SO:0001819	synonymous_variant	1804	exon17			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1689G>T	7.37:g.154645512G>T			154276445	NM_001039350		Silent	SNP	ENST00000377770.3	37																																																																																					0.413	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
ESYT2	57488	broad.mit.edu	37	7	158590644	158590644	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:158590644C>T	ENST00000251527.5	-	3	705	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	ESYT2_ENST00000497111.1_5'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	242	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.V214M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGCTGGCCCACGTCGACCTTC	0.428																																					p.V214M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	7						.						97.0	97.0	97.0					7																	158590644		2203	4300	6503	158283405	SO:0001583	missense	57488	exon3			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.640G>A	7.37:g.158590644C>T	ENSP00000251527:p.Val214Met		158283405	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	3.368	-0.128972	0.06753	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.22134	1.97;1.97	5.16	-7.32	0.01436	.	0.315847	0.42964	N	0.000633	T	0.04137	0.0115	N	0.00483	-1.445	0.80722	D	1	B;B	0.19445	0.003;0.036	B;B	0.13407	0.003;0.009	T	0.43798	-0.9369	10	0.19147	T	0.46	-11.2733	12.4946	0.55921	0.0:0.1095:0.1018:0.7887	.	242;214	A0FGR8-6;A0FGR8-2	.;.	M	214;242;184;38	ENSP00000251527:V214M;ENSP00000275418:V184M	ENSP00000251527:V214M	V	-	1	0	ESYT2	158283405	0.974000	0.33945	0.017000	0.16124	0.565000	0.35776	0.092000	0.15066	-1.651000	0.01504	-0.474000	0.04947	GTG		0.428	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728	
CYTH3	9265	broad.mit.edu	37	7	6205415	6205415	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:6205415G>T	ENST00000350796.3	-	10	986	c.850C>A	c.(850-852)Cgg>Agg	p.R284R	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Silent_p.R199R	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	285	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R284R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ATGAACCACCGGCGCTTCCAG	0.622																																					p.R284R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C850A	7						.						63.0	63.0	63.0					7																	6205415		2203	4300	6503	6171940	SO:0001819	synonymous_variant	9265	exon10			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.850C>A	7.37:g.6205415G>T			6171940	NM_004227	A4D2N8	Silent	SNP	ENST00000350796.3	37	CCDS5346.1																																																																																				0.622	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227	
COL28A1	340267	broad.mit.edu	37	7	7412677	7412677	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:7412677T>C	ENST00000399429.3	-	32	3000	c.2860A>G	c.(2860-2862)Act>Gct	p.T954A		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	954	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T954A(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTGGGTCAGTAGCAATTAGA	0.413																																					p.T954A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2860G	7						.						135.0	126.0	128.0					7																	7412677		1856	4097	5953	7379202	SO:0001583	missense	340267	exon32			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2860A>G	7.37:g.7412677T>C	ENSP00000382356:p.Thr954Ala		7379202	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921850	0.33908	.	.	ENSG00000215018	ENST00000399429	T	0.78364	-1.17	4.09	2.9	0.33743	von Willebrand factor, type A (3);	0.112886	0.37348	U	0.002134	T	0.73900	0.3646	L	0.58101	1.795	0.39908	D	0.973997	B	0.26744	0.158	B	0.38880	0.284	T	0.63739	-0.6569	10	0.16420	T	0.52	-9.8995	8.5485	0.33438	0.4434:0.0:0.0:0.5566	.	954	Q2UY09	COSA1_HUMAN	A	954	ENSP00000382356:T954A	ENSP00000382356:T954A	T	-	1	0	COL28A1	7379202	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.549000	0.36212	0.708000	0.31955	-0.336000	0.08194	ACT		0.413	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
PRPS1L1	221823	broad.mit.edu	37	7	18066558	18066558	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:18066558T>C	ENST00000506618.2	-	1	928	c.848A>G	c.(847-849)cAt>cGt	p.H283R		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	283					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.H283R(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTTGGAGCAATGCTTCATCTT	0.438																																					p.H283R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A848G	7						.						203.0	203.0	203.0					7																	18066558		2203	4300	6503	18033083	SO:0001583	missense	221823	exon1			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.848A>G	7.37:g.18066558T>C	ENSP00000424595:p.His283Arg		18033083	NM_175886	Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	5.530	0.282782	0.10458	.	.	ENSG00000229937	ENST00000506618	T	0.69435	-0.4	4.44	4.44	0.53790	.	.	.	.	.	T	0.39733	0.1089	N	0.02830	-0.485	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	8	0.14252	T	0.57	.	11.9767	0.53096	0.0:0.0:0.0:1.0	.	283	P21108	PRPS3_HUMAN	R	283	ENSP00000424595:H283R	ENSP00000424595:H283R	H	-	2	0	PRPS1L1	18033083	0.991000	0.36638	0.996000	0.52242	0.951000	0.60555	2.232000	0.43018	2.008000	0.58898	0.528000	0.53228	CAT		0.438	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886	
HDAC9	9734	broad.mit.edu	37	7	18684365	18684365	+	Silent	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:18684365T>G	ENST00000432645.2	+	8	975	c.975T>G	c.(973-975)ccT>ccG	p.P325P	HDAC9_ENST00000405010.3_Silent_p.P325P|HDAC9_ENST00000441542.2_Silent_p.P328P|HDAC9_ENST00000524023.1_Silent_p.P248P|HDAC9_ENST00000428307.2_Silent_p.P281P|HDAC9_ENST00000406072.1_Silent_p.P312P|HDAC9_ENST00000406451.4_Silent_p.P325P|HDAC9_ENST00000417496.2_Silent_p.P323P|HDAC9_ENST00000401921.1_Silent_p.P284P|HDAC9_ENST00000456174.2_Silent_p.P297P	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	325	Interaction with MAPK10. {ECO:0000250}.				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.P328P(1)		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)	ATACCTCTCCTTCTTTGCCCA	0.413																																					p.P325P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T975G	7						.						107.0	100.0	102.0					7																	18684365		1898	4111	6009	18650890	SO:0001819	synonymous_variant	9734	exon9			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.975T>G	7.37:g.18684365T>G			18650890	NM_178423	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																				0.413	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
CDCA7L	55536	broad.mit.edu	37	7	21942718	21942718	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:21942718G>A	ENST00000406877.3	-	9	1491	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000373934.4_Silent_p.P358P|CDCA7L_ENST00000356195.5_Silent_p.P370P	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	404					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P404P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CACGACAGGGGGGACACACCC	0.522																																					p.P358P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074T	7						.						52.0	47.0	49.0					7																	21942718		2203	4300	6503	21909243	SO:0001819	synonymous_variant	55536	exon8				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1212C>T	7.37:g.21942718G>A			21909243	NM_001127371	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	ENST00000406877.3	37	CCDS5374.1																																																																																				0.522	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
MPP6	51678	broad.mit.edu	37	7	24681428	24681428	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:24681428A>G	ENST00000222644.5	+	3	461	c.211A>G	c.(211-213)Ata>Gta	p.I71V	MPP6_ENST00000396475.2_Missense_Mutation_p.I71V|MPP6_ENST00000409761.1_5'UTR			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.I71V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CACTCCTCTAATAAATGTGGA	0.388																																					p.I71V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A211G	7						.						125.0	124.0	125.0					7																	24681428		2203	4300	6503	24647953	SO:0001583	missense	51678	exon4			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.211A>G	7.37:g.24681428A>G	ENSP00000222644:p.Ile71Val		24647953	NM_016447	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724409	0.30593	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.13089	2.62;3.61;3.61;2.63	5.76	3.46	0.39613	L27, C-terminal (1);L27 (2);	0.207151	0.32244	N	0.006362	T	0.06416	0.0165	N	0.13098	0.295	0.20873	N	0.999831	B	0.02656	0.0	B	0.06405	0.002	T	0.37957	-0.9683	10	0.12766	T	0.61	.	7.1727	0.25726	0.7204:0.0:0.2796:0.0	.	71	Q9NZW5	MPP6_HUMAN	V	71	ENSP00000395859:I71V;ENSP00000222644:I71V;ENSP00000379737:I71V;ENSP00000391020:I71V	ENSP00000222644:I71V	I	+	1	0	MPP6	24647953	0.802000	0.28943	0.998000	0.56505	0.996000	0.88848	1.669000	0.37492	2.192000	0.70111	0.460000	0.39030	ATA		0.388	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
HOXA1	3198	broad.mit.edu	37	7	27135197	27135197	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:27135197G>A	ENST00000343060.4	-	1	396	c.335C>T	c.(334-336)gCg>gTg	p.A112V	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.A112V|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	112					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A112V(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGATTTAACGCGTAGGGGCT	0.557																																					p.A112V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C335T	7						.						81.0	84.0	83.0					7																	27135197		2203	4300	6503	27101722	SO:0001583	missense	3198	exon1				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.335C>T	7.37:g.27135197G>A	ENSP00000343246:p.Ala112Val		27101722	NM_153620	A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028161	0.35797	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.30981	1.51;1.51	5.28	3.43	0.39272	.	1.198710	0.05862	N	0.623080	T	0.26810	0.0656	L	0.32530	0.975	0.30320	N	0.787668	B;B	0.26975	0.029;0.165	B;B	0.22152	0.007;0.038	T	0.29579	-1.0007	10	0.17369	T	0.5	.	13.9394	0.64046	0.0:0.3948:0.6052:0.0	.	112;112	P49639;E7ERT8	HXA1_HUMAN;.	V	112	ENSP00000343246:A112V;ENSP00000347851:A112V	ENSP00000343246:A112V	A	-	2	0	HOXA1	27101722	0.638000	0.27225	0.995000	0.50966	0.917000	0.54804	4.043000	0.57354	0.572000	0.29383	0.313000	0.20887	GCG		0.557	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1		
HOXA6	3203	broad.mit.edu	37	7	27185462	27185462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:27185462C>A	ENST00000222728.3	-	2	541	c.517G>T	c.(517-519)Gag>Tag	p.E173*	HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	173					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E173*(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AAGTGGAACTCCTTCTCCAGC	0.647																																					p.E173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G517T	7						.						146.0	130.0	135.0					7																	27185462		2203	4300	6503	27151987	SO:0001587	stop_gained	3203	exon2				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.517G>T	7.37:g.27185462C>A	ENSP00000222728:p.Glu173*		27151987	NM_024014	A4D192|Q2M3G3|Q9UPM0	Nonsense_Mutation	SNP	ENST00000222728.3	37	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143381	0.94560	.	.	ENSG00000106006	ENST00000222728	.	.	.	5.6	4.72	0.59763	.	0.056533	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.2236	0.65843	0.0:0.9284:0.0:0.0715	.	.	.	.	X	173	.	ENSP00000222728:E173X	E	-	1	0	HOXA6	27151987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	1.362000	0.46000	0.561000	0.74099	GAG		0.647	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
BBS9	27241	broad.mit.edu	37	7	33573606	33573606	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:33573606T>C	ENST00000242067.6	+	21	2860	c.2339T>C	c.(2338-2340)tTg>tCg	p.L780S	BBS9_ENST00000354265.4_Missense_Mutation_p.L745S|BBS9_ENST00000396127.2_Missense_Mutation_p.L745S|BBS9_ENST00000355070.2_Missense_Mutation_p.L775S|BBS9_ENST00000350941.3_Missense_Mutation_p.L740S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	780					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L780S(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCCCACCTGTTGAAGACTTGC	0.448									Bardet-Biedl syndrome																												p.L775S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2324C	7						.						153.0	147.0	149.0					7																	33573606		2203	4300	6503	33540131	SO:0001583	missense	27241	exon20	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2339T>C	7.37:g.33573606T>C	ENSP00000242067:p.Leu780Ser		33540131	NM_001033605	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483467	0.84854	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000011	T	0.41026	0.1141	M	0.63843	1.955	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	0.85130	0.997;0.997;0.997;0.997;0.997	T	0.22800	-1.0206	10	0.87932	D	0	-8.7829	16.0664	0.80878	0.0:0.0:0.0:1.0	.	780;740;775;745;780	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	S	780;740;745;775;745;780	ENSP00000242067:L780S;ENSP00000313122:L740S;ENSP00000379433:L745S;ENSP00000347182:L775S;ENSP00000346214:L745S	ENSP00000242067:L780S	L	+	2	0	BBS9	33540131	1.000000	0.71417	0.915000	0.36163	0.995000	0.86356	7.481000	0.81124	2.201000	0.70794	0.533000	0.62120	TTG		0.448	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
DPY19L1	23333	broad.mit.edu	37	7	34997648	34997648	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:34997648C>A	ENST00000310974.4	-	11	1052	c.908G>T	c.(907-909)gGg>gTg	p.G303V	DPY19L1_ENST00000462134.2_Intron	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	303						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G303V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CATTGAGTTCCCAAACATCAA	0.269																																					p.G303V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G908T	7						.						49.0	43.0	45.0					7																	34997648		1801	4051	5852	34964173	SO:0001583	missense	23333	exon11			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.908G>T	7.37:g.34997648C>A	ENSP00000308695:p.Gly303Val		34964173	NM_015283	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150318	0.78001	.	.	ENSG00000173852	ENST00000310974	T	0.59083	0.29	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79259	-0.1877	10	0.45353	T	0.12	-15.2035	16.331	0.83014	0.0:1.0:0.0:0.0	.	303	Q2PZI1	D19L1_HUMAN	V	303	ENSP00000308695:G303V	ENSP00000308695:G303V	G	-	2	0	DPY19L1	34964173	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.395000	0.66291	2.712000	0.92718	0.591000	0.81541	GGG		0.269	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
KIAA0895	23366	broad.mit.edu	37	7	36397049	36397049	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:36397049A>G	ENST00000297063.6	-	3	379	c.329T>C	c.(328-330)gTc>gCc	p.V110A	KIAA0895_ENST00000440378.1_Missense_Mutation_p.V59A|KIAA0895_ENST00000338533.5_Missense_Mutation_p.V97A|KIAA0895_ENST00000317020.6_Missense_Mutation_p.V59A|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.V97A|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000436884.1_5'UTR	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	110								p.V110A(1)|p.V97A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTAGTAGGACATTGTAACT	0.388																																					p.V110A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T329C	7						.						122.0	104.0	110.0					7																	36397049		1863	4104	5967	36363574	SO:0001583	missense	23366	exon3			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.329T>C	7.37:g.36397049A>G	ENSP00000297063:p.Val110Ala		36363574	NM_001100425	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671842	0.67928	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000415803	.	.	.	6.04	4.86	0.63082	.	0.529435	0.21715	N	0.070203	T	0.66107	0.2756	L	0.52573	1.65	0.32561	N	0.531058	D;D;D;P;P;P	0.76494	0.998;0.999;0.999;0.924;0.942;0.89	D;D;D;B;P;B	0.80764	0.99;0.99;0.994;0.418;0.543;0.389	T	0.74219	-0.3736	9	0.72032	D	0.01	-29.4564	12.4958	0.55927	0.8747:0.0:0.0:0.1253	.	59;59;97;110;97;59	B4DGN6;B7ZLT4;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;K0895_HUMAN;.;.	A	110;97;59;59;97	.	ENSP00000297063:V110A	V	-	2	0	KIAA0895	36363574	1.000000	0.71417	0.944000	0.38274	0.984000	0.73092	4.891000	0.63185	1.053000	0.40415	0.460000	0.39030	GTC		0.388	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314	
ELMO1	9844	broad.mit.edu	37	7	37298829	37298829	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:37298829C>T	ENST00000310758.4	-	6	1017	c.370G>A	c.(370-372)Gac>Aac	p.D124N	ELMO1_ENST00000442504.1_Missense_Mutation_p.D124N|ELMO1_ENST00000448602.1_Missense_Mutation_p.D124N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	124					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.D124N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGATACCGTCCAGGTTTATA	0.537																																					p.D124N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	7						.						61.0	56.0	58.0					7																	37298829		2203	4300	6503	37265354	SO:0001583	missense	9844	exon6			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.370G>A	7.37:g.37298829C>T	ENSP00000312185:p.Asp124Asn		37265354	NM_014800	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056989	0.55325	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.4	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.40543	1.245	0.80722	D	1	B	0.19583	0.037	B	0.29077	0.098	T	0.12760	-1.0535	10	0.13470	T	0.59	.	13.8976	0.63783	0.0:0.9265:0.0:0.0735	.	124	Q92556	ELMO1_HUMAN	N	124;28;124;124;124;124	ENSP00000312185:D124N;ENSP00000406952:D124N;ENSP00000394458:D124N;ENSP00000406610:D124N;ENSP00000416090:D124N	ENSP00000312185:D124N	D	-	1	0	ELMO1	37265354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.081000	0.71309	2.713000	0.92767	0.591000	0.81541	GAC		0.537	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
MPLKIP	136647	broad.mit.edu	37	7	40173853	40173853	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:40173853G>T	ENST00000306984.6	-	1	405	c.314C>A	c.(313-315)cCa>cAa	p.P105Q	C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000335693.4_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	105					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)		p.P105Q(1)									CTGCTGCCCTGGGGAGTAGCC	0.612																																					p.P105Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314A	7						.						10.0	11.0	11.0					7																	40173853		2144	4234	6378	40140378	SO:0001583	missense	136647	exon1			AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"""chromosome 7 open reading frame 11"""	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.314C>A	7.37:g.40173853G>T	ENSP00000304553:p.Pro105Gln		40140378	NM_138701		Missense_Mutation	SNP	ENST00000306984.6	37	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857607	0.71834	.	.	ENSG00000168303	ENST00000306984	T	0.76448	-1.02	5.08	2.05	0.26809	.	0.102570	0.41823	D	0.000813	T	0.66416	0.2787	L	0.47716	1.5	0.44485	D	0.997422	B	0.12630	0.006	B	0.11329	0.006	T	0.63211	-0.6688	10	0.87932	D	0	-16.8444	4.7659	0.13132	0.0854:0.1496:0.6112:0.1539	.	105	Q8TAP9	TTDN1_HUMAN	Q	105	ENSP00000304553:P105Q	ENSP00000304553:P105Q	P	-	2	0	C7orf11	40140378	0.883000	0.30277	0.996000	0.52242	0.999000	0.98932	1.066000	0.30604	0.805000	0.34159	0.655000	0.94253	CCA		0.612	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701	
HECW1	23072	broad.mit.edu	37	7	43531726	43531726	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:43531726A>G	ENST00000395891.2	+	18	3892	c.3287A>G	c.(3286-3288)cAc>cGc	p.H1096R	HECW1_ENST00000453890.1_Missense_Mutation_p.H1062R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1096					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H1075R(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGCCAGGACACAGCTTAGTA	0.418																																					p.H1096R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3287G	7						.						60.0	61.0	61.0					7																	43531726		1867	4099	5966	43498251	SO:0001583	missense	23072	exon18			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3287A>G	7.37:g.43531726A>G	ENSP00000379228:p.His1096Arg		43498251	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469587	0.43839	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84146	-1.81;-1.81	5.1	5.1	0.69264	.	0.085942	0.85682	D	0.000000	T	0.67692	0.2920	N	0.03608	-0.345	0.58432	D	0.999994	B;B	0.32302	0.363;0.007	B;B	0.29942	0.109;0.007	T	0.68112	-0.5495	10	0.17369	T	0.5	.	14.8447	0.70251	1.0:0.0:0.0:0.0	.	1062;1096	B4DH42;Q76N89	.;HECW1_HUMAN	R	1096;1062;1096	ENSP00000379228:H1096R;ENSP00000407774:H1062R	ENSP00000265522:H1096R	H	+	2	0	HECW1	43498251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.328000	0.90014	2.052000	0.61016	0.454000	0.30748	CAC		0.418	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
NPC1L1	29881	broad.mit.edu	37	7	44575968	44575968	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:44575968C>T	ENST00000289547.4	-	4	1796	c.1741G>A	c.(1741-1743)Gcc>Acc	p.A581T	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A581T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A581T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A581T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	581					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.A581T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGTCCCCGGCAGGGTAATTG	0.582																																					p.A581T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1741A	7						.						68.0	73.0	71.0					7																	44575968		2203	4300	6503	44542493	SO:0001583	missense	29881	exon4				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1741G>A	7.37:g.44575968C>T	ENSP00000289547:p.Ala581Thr		44542493	NM_013389	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	3.624	-0.077010	0.07184	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.93133	-3.07;-3.08;-3.17;-1.95	4.11	-3.66	0.04489	.	0.708126	0.12832	N	0.435554	D	0.83013	0.5162	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.17465	0.004;0.017;0.002;0.022	B;B;B;B	0.15484	0.011;0.013;0.007;0.01	T	0.69179	-0.5213	10	0.13853	T	0.58	-1.2774	3.6806	0.08309	0.1066:0.2613:0.4486:0.1835	.	581;581;581;581	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	T	581	ENSP00000289547:A581T;ENSP00000370552:A581T;ENSP00000438033:A581T;ENSP00000404670:A581T	ENSP00000289547:A581T	A	-	1	0	NPC1L1	44542493	0.304000	0.24472	0.037000	0.18230	0.358000	0.29455	0.778000	0.26732	-0.414000	0.07495	-0.750000	0.03501	GCC		0.582	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
TMED4	222068	broad.mit.edu	37	7	44620783	44620783	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:44620783G>A	ENST00000457408.2	-	4	495	c.443C>T	c.(442-444)gCt>gTt	p.A148V	TMED4_ENST00000481238.1_Missense_Mutation_p.A148V|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Intron	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	148					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.A148V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						ATCTTTTGCAGCAATCTCAGG	0.532																																					p.A148V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C443T	7						.						93.0	89.0	90.0					7																	44620783		2203	4300	6503	44587308	SO:0001583	missense	222068	exon4			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.443C>T	7.37:g.44620783G>A	ENSP00000404042:p.Ala148Val		44587308	NM_182547	A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Missense_Mutation	SNP	ENST00000457408.2	37	CCDS5493.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661606	0.96734	.	.	ENSG00000158604	ENST00000457408;ENST00000419520;ENST00000481238	T;T	0.22743	1.94;1.94	5.23	5.23	0.72850	GOLD (1);	0.052966	0.85682	D	0.000000	T	0.40595	0.1123	M	0.83118	2.625	0.80722	D	1	P;P	0.45902	0.799;0.868	P;P	0.49561	0.615;0.6	T	0.40156	-0.9578	10	0.66056	D	0.02	-13.2805	16.3322	0.83039	0.0:0.0:1.0:0.0	.	148;148	Q7Z7H5-3;Q7Z7H5	.;TMED4_HUMAN	V	148;132;148	ENSP00000404042:A148V;ENSP00000417443:A148V	ENSP00000399469:A132V	A	-	2	0	TMED4	44587308	1.000000	0.71417	0.932000	0.37286	0.991000	0.79684	9.497000	0.97970	2.706000	0.92434	0.655000	0.94253	GCT		0.532	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547	
ADCY1	107	broad.mit.edu	37	7	45726187	45726187	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:45726187C>T	ENST00000297323.7	+	14	2391	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	790					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A790V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCGATTGTGGCCATCCTGCTC	0.632																																					p.A790V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2369T	7						.						55.0	51.0	52.0					7																	45726187		2203	4300	6503	45692712	SO:0001583	missense	107	exon14			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2369C>T	7.37:g.45726187C>T	ENSP00000297323:p.Ala790Val		45692712	NM_021116	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548133	0.65311	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.78364	-1.17	4.6	4.6	0.57074	.	0.125049	0.53938	D	0.000041	T	0.73753	0.3627	L	0.56769	1.78	0.53688	D	0.999976	B	0.21309	0.054	B	0.25987	0.065	T	0.68685	-0.5343	10	0.16420	T	0.52	.	15.2615	0.73628	0.0:1.0:0.0:0.0	.	790	Q08828	ADCY1_HUMAN	V	790	ENSP00000297323:A790V	ENSP00000297323:A790V	A	+	2	0	ADCY1	45692712	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.132000	0.77251	2.246000	0.74042	0.561000	0.74099	GCC		0.632	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
ADCY1	107	broad.mit.edu	37	7	45744182	45744182	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:45744182C>T	ENST00000297323.7	+	17	2806	c.2784C>T	c.(2782-2784)gcC>gcT	p.A928A		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	928					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A928A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTACATGGCCGCTGTGGGGC	0.522																																					p.A928A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2784T	7						.						69.0	73.0	72.0					7																	45744182		2203	4300	6503	45710707	SO:0001819	synonymous_variant	107	exon17			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2784C>T	7.37:g.45744182C>T			45710707	NM_021116	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																				0.522	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
SUN3	256979	broad.mit.edu	37	7	48034020	48034020	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:48034020G>A	ENST00000297325.4	-	8	912	c.753C>T	c.(751-753)atC>atT	p.I251I	SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Silent_p.I251I|SUN3_ENST00000412142.1_Silent_p.I151I|SUN3_ENST00000453192.2_Silent_p.I239I	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	251	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.I251I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGCAAGCTTGATTAGGGTAT	0.453																																					p.I251I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C753T	7						.						183.0	174.0	177.0					7																	48034020		2203	4300	6503	48000545	SO:0001819	synonymous_variant	256979	exon9			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.753C>T	7.37:g.48034020G>A			48000545	NM_152782	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	G	6.497	0.459889	0.12342	.	.	ENSG00000164744	ENST00000453071	.	.	.	5.45	1.47	0.22746	.	.	.	.	.	T	0.46171	0.1379	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	.	4.2441	0.10663	0.3355:0.0:0.515:0.1494	.	.	.	.	L	175	.	.	S	-	2	0	SUN3	48000545	1.000000	0.71417	0.719000	0.30619	0.581000	0.36288	0.597000	0.24059	0.264000	0.21851	0.551000	0.68910	TCA		0.453	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
ABCA13	154664	broad.mit.edu	37	7	48375072	48375072	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:48375072G>A	ENST00000435803.1	+	28	10077	c.10053G>A	c.(10051-10053)ctG>ctA	p.L3351L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3351					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L3296L(1)|p.L3351L(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						CAGAAACACTGCTGGAAATGT	0.428																																					p.C3297Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G9890A	7						.						95.0	93.0	94.0					7																	48375072		1889	4108	5997	48345618	SO:0001819	synonymous_variant	154664	exon26			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.10053G>A	7.37:g.48375072G>A			48345618	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
GUSB	2990	broad.mit.edu	37	7	65432844	65432844	+	Silent	SNP	G	G	A	rs201928248		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:65432844G>A	ENST00000304895.4	-	10	1657	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	GUSB_ENST00000421103.1_Silent_p.H363H|GUSB_ENST00000345660.6_Silent_p.H458H	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	509					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.H509H(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GCCCGTAGTCGTGATACCAAG	0.502																																					p.H509H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1527T	7						.	G		0,4406		0,0,2203	82.0	83.0	83.0		1527	-10.4	0.3	7		83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GUSB	NM_000181.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		509/652	65432844	2,13004	2203	4300	6503	65070279	SO:0001819	synonymous_variant	2990	exon10			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1527C>T	7.37:g.65432844G>A			65070279	NM_000181	B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	CCDS5530.1																																																																																				0.502	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181	
KCTD7	154881	broad.mit.edu	37	7	66098328	66098328	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:66098328T>C	ENST00000275532.3	+	2	395	c.211T>C	c.(211-213)Tgc>Cgc	p.C71R	KCTD7_ENST00000443322.1_Missense_Mutation_p.C71R	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	71	BTB.				cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.C71R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CACACTGCGGTGCTACGAAGA	0.572																																					p.C71R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T211C	7						.						127.0	94.0	105.0					7																	66098328		2203	4300	6503	65735763	SO:0001583	missense	154881	exon2			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.211T>C	7.37:g.66098328T>C	ENSP00000275532:p.Cys71Arg		65735763	NM_001167961	A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	t	2.339	-0.351601	0.05173	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.37058	1.22;1.22	4.78	2.86	0.33363	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	T	0.06142	0.0159	N	0.00044	-2.46	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09796	-1.0658	9	0.12766	T	0.61	.	6.979	0.24692	0.1387:0.7042:0.0:0.1571	.	71	Q96MP8	KCTD7_HUMAN	R	71	ENSP00000275532:C71R;ENSP00000411624:C71R	ENSP00000275532:C71R	C	+	1	0	KCTD7	65735763	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	2.250000	0.43178	0.541000	0.28827	-0.644000	0.03951	TGC		0.572	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033	
WBSCR17	64409	broad.mit.edu	37	7	70880967	70880967	+	Missense_Mutation	SNP	C	C	T	rs144185040		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:70880967C>T	ENST00000333538.5	+	4	1316	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	228	Catalytic subdomain A.				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.R228C(3)		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)				AGGCCTGATCCGCGCTCGCAT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		16785	0.0		0.001	False		,,,				2504	0.0				p.R228C												.	.	3	Substitution - Missense(3)	large_intestine(2)|skin(1)	c.C682T	7						.						92.0	79.0	83.0					7																	70880967		2203	4300	6503	70518903	SO:0001583	missense	64409	exon4			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.682C>T	7.37:g.70880967C>T	ENSP00000329654:p.Arg228Cys		70518903	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.114447	0.94339	.	.	ENSG00000185274	ENST00000333538	T	0.62498	0.02	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90175	0.4238	10	0.87932	D	0	.	17.3775	0.87396	0.0:1.0:0.0:0.0	.	228	Q6IS24	GLTL3_HUMAN	C	228	ENSP00000329654:R228C	ENSP00000329654:R228C	R	+	1	0	WBSCR17	70518903	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.470000	0.60175	2.351000	0.79841	0.462000	0.41574	CGC		0.567	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
UPK3B	80761	broad.mit.edu	37	7	76140102	76140102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:76140102delG	ENST00000257632.5	+	1	261	c.133delG	c.(133-135)gggfs	p.G46fs	UPK3B_ENST00000334348.3_Intron|UPK3B_ENST00000419923.2_Frame_Shift_Del_p.G46fs|UPK3B_ENST00000448265.3_Frame_Shift_Del_p.G46fs|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000394849.1_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	46					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G46fs*5(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCAAGGGGCTGGGGGCCCTGC	0.697																																					p.G45fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.133delG	7						.						13.0	16.0	15.0					7																	76140102		2194	4297	6491	75978038	SO:0001589	frameshift_variant	80761	exon1			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.133delG	7.37:g.76140102delG	ENSP00000257632:p.Gly46fs		75978038	NM_030570	A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Frame_Shift_Del	DEL	ENST00000257632.5	37	CCDS5588.1																																																																																				0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570	
PTPN12	5782	broad.mit.edu	37	7	77265153	77265153	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:77265153delA	ENST00000248594.6	+	15	2401	c.2129delA	c.(2128-2130)caafs	p.Q710fs	PTPN12_ENST00000415482.2_Frame_Shift_Del_p.Q591fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.Q580fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	710					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.K712fs*5(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CGATCTGAACAAAAAAAGTCT	0.328																																					p.Q580fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1739delA	7						.						53.0	51.0	52.0					7																	77265153		2203	4298	6501	77103089	SO:0001589	frameshift_variant	5782	exon14				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2129delA	7.37:g.77265153delA	ENSP00000248594:p.Gln710fs		77103089	NM_001131009	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Frame_Shift_Del	DEL	ENST00000248594.6	37	CCDS5592.1																																																																																				0.328	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
CACNA2D1	781	broad.mit.edu	37	7	81624237	81624237	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:81624237C>T	ENST00000356253.5	-	21	1993	c.1738G>A	c.(1738-1740)Gat>Aat	p.D580N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D561N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	580					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.D561N(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)	CTTTCCCCATCAATCATCTTA	0.299																																					p.D561N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1681A	7						.						74.0	74.0	74.0					7																	81624237		2200	4290	6490	81462173	SO:0001583	missense	781	exon20			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.1738G>A	7.37:g.81624237C>T	ENSP00000348589:p.Asp580Asn		81462173	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	17.35	3.367589	0.61513	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.82711	-1.64;-1.64	5.43	5.43	0.79202	.	0.050392	0.85682	D	0.000000	D	0.86611	0.5974	M	0.63428	1.95	0.80722	D	1	D	0.55172	0.97	P	0.57152	0.814	T	0.82327	-0.0512	10	0.06891	T	0.86	-24.851	19.2359	0.93858	0.0:1.0:0.0:0.0	.	561	P54289-2	.	N	561;580;580	ENSP00000349320:D561N;ENSP00000348589:D580N	ENSP00000284088:D580N	D	-	1	0	CACNA2D1	81462173	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.853000	0.75435	2.538000	0.85594	0.655000	0.94253	GAT		0.299	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
SEMA3E	9723	broad.mit.edu	37	7	83029490	83029490	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:83029490C>G	ENST00000307792.3	-	11	1687	c.1220G>C	c.(1219-1221)aGt>aCt	p.S407T	SEMA3E_ENST00000427262.1_Missense_Mutation_p.S347T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	407	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.S407T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TAGTGGATGACTTCTTGCAAA	0.398																																					p.S407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1220C	7						.						209.0	190.0	196.0					7																	83029490		2203	4300	6503	82867426	SO:0001583	missense	9723	exon11			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1220G>C	7.37:g.83029490C>G	ENSP00000303212:p.Ser407Thr		82867426	NM_012431	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874586	0.17395	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.11169	2.8;2.8	5.52	0.51	0.16983	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.450627	0.27705	N	0.018200	T	0.05593	0.0147	L	0.33189	0.99	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40961	-0.9535	10	0.10902	T	0.67	.	2.9347	0.05810	0.1293:0.5458:0.1186:0.2063	.	407	O15041	SEM3E_HUMAN	T	407;347;407	ENSP00000303212:S407T;ENSP00000405052:S347T	ENSP00000303212:S407T	S	-	2	0	SEMA3E	82867426	0.014000	0.17966	0.266000	0.24541	0.970000	0.65996	0.702000	0.25631	0.010000	0.14839	-0.224000	0.12420	AGT		0.398	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
ABCB1	5243	broad.mit.edu	37	7	87133651	87133651	+	Missense_Mutation	SNP	C	C	T	rs28364274	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:87133651C>T	ENST00000265724.3	-	29	4168	c.3751G>A	c.(3751-3753)Gtc>Atc	p.V1251I	ABCB1_ENST00000543898.1_Missense_Mutation_p.V1187I|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1251	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		V -> I (in dbSNP:rs28364274). {ECO:0000269|PubMed:15618713, ECO:0000269|Ref.5}.		drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.V1251I(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGCTCCTTGACTCTGCCATTC	0.522													C|||	35	0.00698882	0.0	0.0461	5008	,	,		16179	0.003		0.0	False		,,,				2504	0.0				p.V1251I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3751A	7						.	C	ILE/VAL	2,4404	6.2+/-15.9	0,2,2201	175.0	157.0	163.0		3751	-3.2	0.0	7	dbSNP_125	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCB1	NM_000927.4	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	1251/1281	87133651	3,13003	2203	4300	6503	86971587	SO:0001583	missense	5243	exon29			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3751G>A	7.37:g.87133651C>T	ENSP00000265724:p.Val1251Ile		86971587	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	8	0.003663003663003663	0	0.0	7	0.019337016574585635	1	0.0017482517482517483	0	0.0	C	8.633	0.894206	0.17613	4.54E-4	1.16E-4	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	T;T	0.47177	0.85;0.85	5.8	-3.21	0.05140	ABC transporter-like (1);	0.294483	0.36628	N	0.002493	T	0.09291	0.0229	N	0.03281	-0.365	0.41730	D	0.989557	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.14420	-1.0473	10	0.13108	T	0.6	-7.2957	11.9351	0.52868	0.0:0.4619:0.0:0.5381	rs28364274	1187;1251	B5AK60;P08183	.;MDR1_HUMAN	I	1032;1251;1187	ENSP00000265724:V1251I;ENSP00000444095:V1187I	ENSP00000265724:V1251I	V	-	1	0	ABCB1	86971587	0.028000	0.19301	0.012000	0.15200	0.367000	0.29736	0.428000	0.21395	-0.486000	0.06744	-0.136000	0.14681	GTC		0.522	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
AKAP9	10142	broad.mit.edu	37	7	91726633	91726633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:91726633C>T	ENST00000359028.2	+	41	10597	c.10372C>T	c.(10372-10374)Cga>Tga	p.R3458*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R3404*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3454*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3458					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R3458*(1)|p.R3454*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGAAAAACGAGAAAGTAG	0.358			T	BRAF	papillary thyroid																																p.R3446X			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C10336T	7						.						29.0	31.0	30.0					7																	91726633		2189	4296	6485	91564569	SO:0001587	stop_gained	10142	exon41			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10372C>T	7.37:g.91726633C>T	ENSP00000351922:p.Arg3458*		91564569	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	52	19.303643	0.99917	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.47	-1.52	0.08637	.	0.480009	0.15157	N	0.277398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1061	0.14785	0.5732:0.1812:0.1729:0.0727	.	.	.	.	X	3454;3458;3404;3458;1300	.	ENSP00000348573:R3454X	R	+	1	2	AKAP9	91564569	0.217000	0.23597	0.956000	0.39512	0.959000	0.62525	0.163000	0.16520	0.029000	0.15352	0.655000	0.94253	CGA		0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
KRIT1	889	broad.mit.edu	37	7	91843228	91843228	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:91843228T>C	ENST00000340022.2	-	16	2814	c.1796A>G	c.(1795-1797)aAt>aGt	p.N599S	KRIT1_ENST00000394503.2_Missense_Mutation_p.N551S|KRIT1_ENST00000394505.2_Missense_Mutation_p.N599S|KRIT1_ENST00000412043.2_Missense_Mutation_p.N599S|KRIT1_ENST00000394507.1_Missense_Mutation_p.N599S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	599	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.N599S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTATGCGATTTGTCCAGTG	0.318																																					p.N599S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1796G	7						.						190.0	175.0	180.0					7																	91843228		2203	4300	6503	91681164	SO:0001583	missense	889	exon16			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1796A>G	7.37:g.91843228T>C	ENSP00000344668:p.Asn599Ser		91681164	NM_194455	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498056	0.26861	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.78003	-0.6;-0.6;-0.6;-0.6;-1.14	5.67	5.67	0.87782	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.052494	0.85682	D	0.000000	T	0.59280	0.2182	N	0.05441	-0.05	0.54753	D	0.999988	B;B;B	0.20550	0.046;0.022;0.046	B;B;B	0.22152	0.038;0.018;0.038	T	0.57602	-0.7783	10	0.09338	T	0.73	-6.9463	15.911	0.79473	0.0:0.0:0.0:1.0	.	599;551;599	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	S	599;599;599;599;551	ENSP00000378015:N599S;ENSP00000344668:N599S;ENSP00000410909:N599S;ENSP00000378013:N599S;ENSP00000378011:N551S	ENSP00000344668:N599S	N	-	2	0	KRIT1	91681164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.149000	0.67028	0.528000	0.53228	AAT		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		
TFPI2	7980	broad.mit.edu	37	7	93519538	93519538	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:93519538C>T	ENST00000222543.5	-	2	494	c.182G>A	c.(181-183)tGc>tAc	p.C61Y	TFPI2_ENST00000545378.1_Missense_Mutation_p.C61Y|GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	61	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C61Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GAACTGGCGGCAGCTCTGCGT	0.572																																					p.C61Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G182A	7						.						36.0	39.0	38.0					7																	93519538		2203	4300	6503	93357474	SO:0001583	missense	7980	exon2			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.182G>A	7.37:g.93519538C>T	ENSP00000222543:p.Cys61Tyr		93357474	NM_006528	Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599257	0.66332	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	D;D	0.94138	-3.36;-3.36	5.07	5.07	0.68467	Proteinase inhibitor I2, Kunitz metazoa (6);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.99565	4.63	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.989;0.999;0.999;0.999	D	0.99802	1.1036	10	0.87932	D	0	.	18.4369	0.90649	0.0:1.0:0.0:0.0	.	32;50;61;61	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	Y	61	ENSP00000222543:C61Y;ENSP00000438861:C61Y	ENSP00000222543:C61Y	C	-	2	0	TFPI2	93357474	1.000000	0.71417	0.401000	0.26359	0.306000	0.27790	4.547000	0.60712	2.516000	0.84829	0.313000	0.20887	TGC		0.572	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
BET1	10282	broad.mit.edu	37	7	93628525	93628525	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:93628525C>A	ENST00000222547.3	-	2	259	c.101G>T	c.(100-102)aGg>aTg	p.R34M	AC006378.2_ENST00000426193.2_RNA|BET1_ENST00000425626.1_Missense_Mutation_p.R34M|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000433727.1_Missense_Mutation_p.R34M|BET1_ENST00000471446.1_5'Flank	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	34	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)|vesicle fusion with Golgi apparatus (GO:0048280)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R34M(1)		large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			TTCAGTGAGCCTCTCATTTTC	0.353																																					p.R34M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101T	7						.						71.0	66.0	68.0					7																	93628525		2203	4300	6503	93466461	SO:0001583	missense	10282	exon2			AF007551	CCDS5635.1	7q21.1-q22	2013-03-08	2013-03-08		ENSG00000105829	ENSG00000105829			14562	protein-coding gene	gene with protein product	"""Golgi vesicular membrane trafficking protein p18"", ""Bet1p homolog"""	605456	"""Bet1 (S. cerevisiae) homolog"", ""BET1 homolog (S. cerevisiae)"", ""blocked early in transport 1 homolog (S. cerevisiae)"""			9382863, 10449330	Standard	XM_005250109		Approved	hbet1	uc003unf.1	O15155	OTTHUMG00000023487	ENST00000222547.3:c.101G>T	7.37:g.93628525C>A	ENSP00000222547:p.Arg34Met		93466461	NM_005868	Q96EA0	Missense_Mutation	SNP	ENST00000222547.3	37	CCDS5635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.85|19.85	3.902911|3.902911	0.72754|0.72754	.|.	.|.	ENSG00000105829|ENSG00000105829	ENST00000457139|ENST00000222547;ENST00000433727;ENST00000425626	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Target SNARE coiled-coil domain (3);	.|0.098171	.|0.64402	.|D	.|0.000001	T|T	0.78855|0.78855	0.4349|0.4349	M|M	0.83312|0.83312	2.635|2.635	0.49051|0.49051	D|D	0.999747|0.999747	.|D	.|0.67145	.|0.996	.|D	.|0.65443	.|0.935	T|T	0.80625|0.80625	-0.1299|-0.1299	6|9	0.02654|0.59425	T|D	1|0.04	.|.	13.8826|13.8826	0.63689|0.63689	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	.|34	.|O15155	.|BET1_HUMAN	D|M	48|34	.|.	ENSP00000401260:E48D|ENSP00000222547:R34M	E|R	-|-	3|2	2|0	BET1|BET1	93466461|93466461	0.979000|0.979000	0.34478|0.34478	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	1.438000|1.438000	0.35002|0.35002	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.353	BET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255181.2	NM_005868	
LMTK2	22853	broad.mit.edu	37	7	97822304	97822304	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:97822304A>G	ENST00000297293.5	+	11	2820	c.2527A>G	c.(2527-2529)Acg>Gcg	p.T843A		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	843					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.T843A(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AACCCAGCCCACGTGTTTAGA	0.552																																					p.T843A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2527G	7						.						84.0	84.0	84.0					7																	97822304		2203	4300	6503	97660240	SO:0001583	missense	22853	exon11			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2527A>G	7.37:g.97822304A>G	ENSP00000297293:p.Thr843Ala		97660240	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	A	6.197	0.404533	0.11754	.	.	ENSG00000164715	ENST00000297293	T	0.76839	-1.05	5.36	-9.55	0.00569	.	1.105250	0.06653	N	0.763119	T	0.52725	0.1752	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49661	-0.8916	10	0.02654	T	1	.	3.9826	0.09501	0.139:0.3612:0.3532:0.1466	.	843	Q8IWU2	LMTK2_HUMAN	A	843	ENSP00000297293:T843A	ENSP00000297293:T843A	T	+	1	0	LMTK2	97660240	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.252000	0.02880	-1.209000	0.02631	-0.290000	0.09829	ACG		0.552	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
TRRAP	8295	broad.mit.edu	37	7	98547700	98547700	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:98547700G>T	ENST00000359863.4	+	37	5337	c.5128G>T	c.(5128-5130)Gat>Tat	p.D1710Y	TRRAP_ENST00000446306.3_Missense_Mutation_p.D1691Y|TRRAP_ENST00000355540.3_Missense_Mutation_p.D1692Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1710					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.D1710Y(1)|p.D1692Y(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAATTACGGAGATATAGAATT	0.408																																					p.D1692Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5074T	7						.						116.0	117.0	117.0					7																	98547700		2203	4300	6503	98385636	SO:0001583	missense	8295	exon36			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5128G>T	7.37:g.98547700G>T	ENSP00000352925:p.Asp1710Tyr		98385636	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.754217|4.754217	0.89843|0.89843	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.63255|.	-0.03;-0.03|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.051223|.	0.85682|.	D|.	0.000000|.	T|T	0.67173|0.67173	0.2865|0.2865	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63046|.	0.988;0.992;0.983|.	P;P;P|.	0.60415|.	0.874;0.822;0.786|.	T|T	0.61836|0.61836	-0.6981|-0.6981	10|5	0.72032|.	D|.	0.01|.	.|.	19.525|19.525	0.95201|0.95201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1692;1431;1710|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Y|D	1710;1692;1690|1431	ENSP00000352925:D1710Y;ENSP00000347733:D1692Y|.	ENSP00000347733:D1692Y|.	D|E	+|+	1|3	0|2	TRRAP|TRRAP	98385636|98385636	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.986000|0.986000	0.74619|0.74619	9.771000|9.771000	0.98977|0.98977	2.623000|2.623000	0.88846|0.88846	0.561000|0.561000	0.74099|0.74099	GAT|GAG		0.408	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
CPSF4	10898	broad.mit.edu	37	7	99045885	99045885	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:99045885A>G	ENST00000292476.5	+	3	306	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.Y99C|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000436336.2_Missense_Mutation_p.Y99C|CPSF4_ENST00000441580.1_Missense_Mutation_p.Y46C|ATP5J2_ENST00000466753.1_5'Flank			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	99					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.Y99C(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)					TGCTACTTCTACTCCAAGTTC	0.582																																					p.Y99C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A296G	7						.						116.0	89.0	98.0					7																	99045885		2203	4300	6503	98883821	SO:0001583	missense	10898	exon3				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.296A>G	7.37:g.99045885A>G	ENSP00000292476:p.Tyr99Cys		98883821	NM_001081559	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688976	0.88735	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	T;T;T;T;T;T	0.56275	1.77;1.67;1.7;1.41;0.47;1.35	5.96	5.96	0.96718	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.89601	3.045	0.80722	D	1	D;P;P;P	0.89917	1.0;0.654;0.848;0.903	D;B;B;P	0.91635	0.999;0.413;0.366;0.63	T	0.82671	-0.0342	10	0.66056	D	0.02	-25.8988	16.4343	0.83869	1.0:0.0:0.0:0.0	.	46;99;99;99	B7Z7B0;O95639-3;O95639;O95639-2	.;.;CPSF4_HUMAN;.	C	99;99;99;46;46;66	ENSP00000395311:Y99C;ENSP00000396060:Y99C;ENSP00000292476:Y99C;ENSP00000402224:Y46C;ENSP00000401150:Y46C;ENSP00000392584:Y66C	ENSP00000292476:Y99C	Y	+	2	0	CPSF4	98883821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.956000	0.93066	2.285000	0.76669	0.528000	0.53228	TAC		0.582	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1		
STAG3	10734	broad.mit.edu	37	7	99796553	99796553	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:99796553T>C	ENST00000426455.1	+	14	1847	c.1440T>C	c.(1438-1440)ctT>ctC	p.L480L	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.L480L|STAG3_ENST00000394018.2_Silent_p.L422L|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	480					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.L480L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTCCAGCTTCTGCTGTCCT	0.552																																					p.L480L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1440C	7						.						100.0	100.0	100.0					7																	99796553		2203	4298	6501	99634489	SO:0001819	synonymous_variant	10734	exon14			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1440T>C	7.37:g.99796553T>C			99634489	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	CCDS34703.1																																																																																				0.552	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
VIPR2	7434	broad.mit.edu	37	7	158827292	158827292	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr7:158827292G>A	ENST00000262178.2	-	9	1044	c.859C>T	c.(859-861)Ccg>Tcg	p.P287S	VIPR2_ENST00000377633.3_Missense_Mutation_p.P271S|VIPR2_ENST00000402066.1_Missense_Mutation_p.P428S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	287					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.P287S(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATTAAAATCGGTATTCGTATG	0.463																																					p.P287S	Pancreas(154;1876 1931 2329 17914 20079)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C859T	7						.						134.0	115.0	122.0					7																	158827292		2203	4300	6503	158520053	SO:0001583	missense	7434	exon9			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.859C>T	7.37:g.158827292G>A	ENSP00000262178:p.Pro287Ser		158520053	NM_003382	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359939	0.82353	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.60040	0.22;0.22;0.22	4.69	4.69	0.59074	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000101	T	0.81640	0.4865	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86955	0.2088	9	.	.	.	.	15.1273	0.72493	0.0:0.0:1.0:0.0	.	287	P41587	VIPR2_HUMAN	S	287;271;428	ENSP00000262178:P287S;ENSP00000366860:P271S;ENSP00000384497:P428S	.	P	-	1	0	VIPR2	158520053	1.000000	0.71417	0.530000	0.27963	0.809000	0.45718	8.447000	0.90332	2.149000	0.67028	0.563000	0.77884	CCG		0.463	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	
VPS13B	157680	broad.mit.edu	37	8	100115278	100115278	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:100115278C>T	ENST00000358544.2	+	5	621	c.510C>T	c.(508-510)tcC>tcT	p.S170S	VPS13B_ENST00000357162.2_Silent_p.S170S|VPS13B_ENST00000395996.1_Silent_p.S170S|VPS13B_ENST00000355155.1_Silent_p.S170S|VPS13B_ENST00000441350.2_Silent_p.S170S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	170					protein transport (GO:0015031)			p.S170S(1)		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)			TCGTCCTTTCCGTCAATATCA	0.328																																					p.S170S	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510T	8						.						145.0	135.0	139.0					8																	100115278		2203	4300	6503	100184454	SO:0001819	synonymous_variant	157680	exon5			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.510C>T	8.37:g.100115278C>T			100184454	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.328	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
DPYS	1807	broad.mit.edu	37	8	105459713	105459713	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:105459713T>A	ENST00000351513.2	-	3	574	c.442A>T	c.(442-444)Atc>Ttc	p.I148F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	148					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.I148F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCACAAGGATTTTCATTTCT	0.358																																					p.I148F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A442T	8						.						109.0	99.0	103.0					8																	105459713		2203	4300	6503	105528889	SO:0001583	missense	1807	exon3			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.442A>T	8.37:g.105459713T>A	ENSP00000276651:p.Ile148Phe		105528889	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858061	0.51376	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.90133	-2.62;-2.61	6.02	3.65	0.41850	Amidohydrolase 1 (1);	0.328408	0.36101	N	0.002797	D	0.84543	0.5495	L	0.35542	1.07	0.37170	D	0.903001	B	0.27656	0.184	B	0.32211	0.142	T	0.80859	-0.1194	10	0.72032	D	0.01	-17.8798	6.7174	0.23310	0.0:0.1343:0.1292:0.7365	.	148	Q14117	DPYS_HUMAN	F	148;95	ENSP00000276651:I148F;ENSP00000430246:I95F	ENSP00000276651:I148F	I	-	1	0	DPYS	105528889	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	3.938000	0.56583	0.524000	0.28502	0.528000	0.53228	ATC		0.358	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
NUDCD1	84955	broad.mit.edu	37	8	110255499	110255499	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:110255499T>A	ENST00000239690.4	-	10	1865	c.1491A>T	c.(1489-1491)aaA>aaT	p.K497N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.K468N	NM_032869.3	NP_116258.2			NudC domain containing 1									p.K497N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGGCAAAAAATTTTTTGTCTC	0.388																																					p.K497N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1491T	8						.						112.0	123.0	119.0					8																	110255499		2203	4300	6503	110324675	SO:0001583	missense	84955	exon10			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1491A>T	8.37:g.110255499T>A	ENSP00000239690:p.Lys497Asn		110324675	NM_032869		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262699	0.80358	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.35421	1.34;1.31	5.11	-0.317	0.12736	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.85859	2.78	0.50632	D	0.999888	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	T	0.61860	-0.6976	10	0.87932	D	0	-3.7182	11.1671	0.48550	0.0:0.7388:0.0:0.2612	.	410;497;468	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	N	497;468	ENSP00000239690:K497N;ENSP00000410707:K468N	ENSP00000239690:K497N	K	-	3	2	NUDCD1	110324675	0.990000	0.36364	0.996000	0.52242	0.998000	0.95712	0.283000	0.18846	-0.179000	0.10654	0.455000	0.32223	AAA		0.388	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869	
PKHD1L1	93035	broad.mit.edu	37	8	110488860	110488860	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:110488860C>T	ENST00000378402.5	+	52	8985	c.8881C>T	c.(8881-8883)Cac>Tac	p.H2961Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2961					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H2963Y(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)			TGGGGACTGGCACCTTGAAGC	0.338										HNSCC(38;0.096)																											p.H2961Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8881T	8						.						53.0	53.0	53.0					8																	110488860		1878	4101	5979	110558036	SO:0001583	missense	93035	exon52			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.8881C>T	8.37:g.110488860C>T	ENSP00000367655:p.His2961Tyr		110558036	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	4.703	0.130720	0.08981	.	.	ENSG00000205038	ENST00000378402	D	0.83837	-1.77	5.69	5.69	0.88448	.	0.204155	0.43260	D	0.000591	T	0.61652	0.2364	N	0.04959	-0.14	0.29745	N	0.836786	B	0.09022	0.002	B	0.15870	0.014	T	0.50491	-0.8822	10	0.02654	T	1	.	10.7067	0.45958	0.0:0.9135:0.0:0.0865	.	2961	Q86WI1	PKHL1_HUMAN	Y	2961	ENSP00000367655:H2961Y	ENSP00000367655:H2961Y	H	+	1	0	PKHD1L1	110558036	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.391000	0.52530	2.685000	0.91497	0.585000	0.79938	CAC		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
KCNV1	27012	broad.mit.edu	37	8	110984700	110984700	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:110984700G>A	ENST00000524391.1	-	3	1810	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.R260C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	260					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.R260C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACAGGAAGCGGAGGACAAAC	0.532																																					p.R260C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C778T	8						.						78.0	68.0	71.0					8																	110984700		2203	4300	6503	111053876	SO:0001583	missense	27012	exon2			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.778C>T	8.37:g.110984700G>A	ENSP00000435954:p.Arg260Cys		111053876	NM_014379	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573862	0.65765	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98732	-5.1;-5.1	5.7	5.7	0.88788	Ion transport (1);	0.111628	0.53938	D	0.000044	D	0.99450	0.9805	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98385	1.0560	10	0.87932	D	0	.	12.4407	0.55623	0.0:0.0:0.7362:0.2638	.	260	Q6PIU1	KCNV1_HUMAN	C	260;260;136	ENSP00000435954:R260C;ENSP00000297404:R260C	ENSP00000297404:R260C	R	-	1	0	KCNV1	111053876	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.436000	0.44819	2.697000	0.92050	0.557000	0.71058	CGC		0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
USP17L2	377630	broad.mit.edu	37	8	11994840	11994840	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:11994840T>C	ENST00000333796.3	-	1	1746	c.1430A>G	c.(1429-1431)aAc>aGc	p.N477S	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	477	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N477S(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGGATGATGGTTTTTCATCCC	0.498																																					p.N477S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1430G	8						.						52.0	55.0	54.0					8																	11994840		1309	2862	4171	12032249	SO:0001583	missense	377630	exon1			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1430A>G	8.37:g.11994840T>C	ENSP00000333329:p.Asn477Ser		12032249	NM_201402		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	T	0.036	-1.304200	0.01353	.	.	ENSG00000223443	ENST00000333796	T	0.11063	2.81	0.128	-0.256	0.12984	.	2.503010	0.01794	U	0.032510	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	1	B	0.34214	0.442	B	0.28916	0.096	T	0.13548	-1.0505	9	0.32370	T	0.25	.	.	.	.	.	477	Q6R6M4	U17L2_HUMAN	S	477	ENSP00000333329:N477S	ENSP00000333329:N477S	N	-	2	0	USP17L2	12032249	0.011000	0.17503	0.030000	0.17652	0.053000	0.15095	-0.003000	0.12901	-1.313000	0.02303	-1.334000	0.01262	AAC		0.498	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
TRPS1	7227	broad.mit.edu	37	8	116616405	116616405	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:116616405C>T	ENST00000220888.5	-	3	1911	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Silent_p.P597P|TRPS1_ENST00000520276.1_Silent_p.P588P|TRPS1_ENST00000519674.1_Silent_p.P584P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	584					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P584P(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TACAAGCAAACGGATAAGTAA	0.468									Langer-Giedion syndrome																												p.P597P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1791A	8						.						69.0	69.0	69.0					8																	116616405		1920	4142	6062	116685580	SO:0001819	synonymous_variant	7227	exon4	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1752G>A	8.37:g.116616405C>T			116685580	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37																																																																																					0.468	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
ENPP2	5168	broad.mit.edu	37	8	120608106	120608106	+	Intron	SNP	G	G	A	rs142695308	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:120608106G>A	ENST00000075322.6	-	12	1031				ENPP2_ENST00000259486.6_Missense_Mutation_p.A370V|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000522826.1_Intron	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A370V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGTTTCCGCAGCATAATG	0.443													G|||	10	0.00199681	0.0	0.0144	5008	,	,		19590	0.0		0.0	False		,,,				2504	0.0				p.A370V	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1109T	8						.	G	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	150.0	150.0	150.0		,,1109	5.2	1.0	8	dbSNP_134	150	0,8600		0,0,4300	yes	intron,intron,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,370/916	120608106	1,13005	2203	4300	6503	120677287	SO:0001627	intron_variant	5168	exon12			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2006C>T	8.37:g.120608106G>A			120677287	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	5	0.0022893772893772895	0	0.0	5	0.013812154696132596	0	0.0	0	0.0	G	15.06	2.719777	0.48728	2.27E-4	0.0	ENSG00000136960	ENST00000259486	T	0.71461	-0.57	6.07	5.15	0.70609	.	0.187300	0.26304	N	0.025141	T	0.47893	0.1470	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46762	-0.9168	9	0.17832	T	0.49	.	12.505	0.55975	0.0829:0.0:0.9171:0.0	.	370	Q13822-2	.	V	370	ENSP00000259486:A370V	ENSP00000259486:A370V	A	-	2	0	ENPP2	120677287	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.626000	0.46460	1.443000	0.47586	0.655000	0.94253	GCG		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
ATAD2	29028	broad.mit.edu	37	8	124335227	124335227	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:124335227T>C	ENST00000287394.5	-	27	4189	c.4082A>G	c.(4081-4083)cAa>cGa	p.Q1361R	ATAD2_ENST00000521903.1_Missense_Mutation_p.Q679R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1361					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1361R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATAAATACATTGGCTGATTAC	0.318																																					p.Q1361R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4082G	8						.						148.0	137.0	141.0					8																	124335227		2203	4300	6503	124404408	SO:0001583	missense	29028	exon27			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.4082A>G	8.37:g.124335227T>C	ENSP00000287394:p.Gln1361Arg		124404408	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107360	0.77096	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.93076	-3.16;1.31	5.66	5.66	0.87406	.	0.323597	0.36034	N	0.002832	D	0.91696	0.7375	L	0.58101	1.795	0.43050	D	0.99465	P	0.48503	0.911	B	0.42112	0.376	D	0.91025	0.4860	10	0.32370	T	0.25	-12.4045	15.5544	0.76180	0.0:0.0:0.0:1.0	.	1361	Q6PL18	ATAD2_HUMAN	R	1361;679	ENSP00000287394:Q1361R;ENSP00000429213:Q679R	ENSP00000287394:Q1361R	Q	-	2	0	ATAD2	124404408	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.811000	0.69187	2.143000	0.66587	0.533000	0.62120	CAA		0.318	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
KLHL38	340359	broad.mit.edu	37	8	124658144	124658144	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:124658144G>A	ENST00000325995.7	-	3	1604	c.1581C>T	c.(1579-1581)ggC>ggT	p.G527G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	527								p.G527G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCGCCGCCCGCCCGTCACGT	0.582																																					p.G527G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	8						.						95.0	110.0	105.0					8																	124658144		2094	4219	6313	124727325	SO:0001819	synonymous_variant	340359	exon3				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1581C>T	8.37:g.124658144G>A			124727325	NM_001081675	A0PK12	Silent	SNP	ENST00000325995.7	37	CCDS43766.1																																																																																				0.582	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
KLHL38	340359	broad.mit.edu	37	8	124665026	124665026	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:124665026G>A	ENST00000325995.7	-	1	164	c.141C>T	c.(139-141)tgC>tgT	p.C47C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	47	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.C47C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGTTGCGGTGGCAGGGGATCT	0.567																																					p.C47C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C141T	8						.						54.0	58.0	57.0					8																	124665026		2056	4217	6273	124734207	SO:0001819	synonymous_variant	340359	exon1				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.141C>T	8.37:g.124665026G>A			124734207	NM_001081675	A0PK12	Silent	SNP	ENST00000325995.7	37	CCDS43766.1																																																																																				0.567	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
OC90	729330	broad.mit.edu	37	8	133044179	133044179	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:133044179C>T	ENST00000443356.2	-	13	1114	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D	OC90_ENST00000603859.1_Missense_Mutation_p.G327D|OC90_ENST00000262283.5_Missense_Mutation_p.G539D|OC90_ENST00000254627.3_Missense_Mutation_p.G327D			Q02509	OC90_HUMAN	otoconin 90	343	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G539D(1)|p.G301D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACAGTAACAGCCATAAGACTC	0.542																																					p.G327D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G980A	8						.						62.0	65.0	64.0					8																	133044179		2012	4181	6193	133113361	SO:0001583	missense	729330	exon12			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1028G>A	8.37:g.133044179C>T	ENSP00000390050:p.Gly343Asp		133113361	NM_001080399	B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37		.	.	.	.	.	.	.	.	.	.	C	28.1	4.889679	0.91889	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.57107	0.42;0.42;0.42	5.91	5.91	0.95273	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88642	0.3176	10	0.87932	D	0	-34.6009	18.8623	0.92278	0.0:1.0:0.0:0.0	.	327;343	Q02509-2;Q02509	.;OC90_HUMAN	D	327;343;539	ENSP00000254627:G327D;ENSP00000390050:G343D;ENSP00000262283:G539D	ENSP00000254627:G327D	G	-	2	0	RP11-240B13.2;OC90	133113361	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.299000	0.72770	2.793000	0.96121	0.655000	0.94253	GGC		0.542	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	
OC90	729330	broad.mit.edu	37	8	133053367	133053367	+	Silent	SNP	G	G	A	rs368734460		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:133053367G>A	ENST00000443356.2	-	6	467	c.381C>T	c.(379-381)gcC>gcT	p.A127A	OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000262283.5_Silent_p.A323A|OC90_ENST00000254627.3_Silent_p.A127A			Q02509	OC90_HUMAN	otoconin 90	127	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.A133A(1)|p.A323A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCATCTCAGCGGCCTCCTCAT	0.577																																					p.A127A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C381T	8						.	G		0,3930		0,0,1965	108.0	107.0	107.0		381	-11.2	0.0	8		107	1,8323		0,1,4161	no	coding-synonymous	OC90	NM_001080399.2		0,1,6126	AA,AG,GG		0.012,0.0,0.0082		127/478	133053367	1,12253	1965	4162	6127	133122549	SO:0001819	synonymous_variant	729330	exon6			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.381C>T	8.37:g.133053367G>A			133122549	NM_001080399	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																					0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	
ARC	23237	broad.mit.edu	37	8	143694948	143694948	+	Missense_Mutation	SNP	G	G	A	rs368167896		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:143694948G>A	ENST00000356613.2	-	1	1885	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.R229W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCCACCTGCCGCAAGTACTCC	0.647																																					p.R229W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C685T	8						.						28.0	29.0	28.0					8																	143694948		2168	4248	6416	143691950	SO:0001583	missense	23237	exon1			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.685C>T	8.37:g.143694948G>A	ENSP00000349022:p.Arg229Trp		143691950	NM_015193	B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107375	0.56291	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.77	3.8	0.43715	.	0.118794	0.34603	U	0.003836	T	0.34803	0.0910	N	0.08118	0	0.32715	N	0.511103	D	0.60160	0.987	P	0.56751	0.805	T	0.48502	-0.9030	9	0.72032	D	0.01	.	9.5739	0.39445	0.0:0.0:0.5664:0.4336	.	229	Q7LC44	ARC_HUMAN	W	229	.	ENSP00000349022:R229W	R	-	1	2	ARC	143691950	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	0.917000	0.28665	2.187000	0.69744	0.462000	0.41574	CGG		0.647	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2		
CYP11B2	1585	broad.mit.edu	37	8	143998503	143998503	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:143998503G>A	ENST00000323110.2	-	2	369	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	123					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)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R123C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TTGTGCCCACGATGTTGTCTG	0.612									Familial Hyperaldosteronism type I																												p.R123C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C367T	8						.						176.0	131.0	146.0					8																	143998503		2203	4300	6503	143995505	SO:0001583	missense	1585	exon2	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.367C>T	8.37:g.143998503G>A	ENSP00000325822:p.Arg123Cys		143995505	NM_000498	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154245	0.38021	.	.	ENSG00000179142	ENST00000323110	T	0.69175	-0.38	3.9	3.03	0.35002	.	0.145050	0.31963	N	0.006787	T	0.68044	0.2958	M	0.76838	2.35	0.31530	N	0.661336	P	0.41624	0.757	B	0.43680	0.427	T	0.73597	-0.3932	10	0.62326	D	0.03	.	9.2266	0.37410	0.1089:0.0:0.8911:0.0	.	123	P19099	C11B2_HUMAN	C	123	ENSP00000325822:R123C	ENSP00000325822:R123C	R	-	1	0	CYP11B2	143995505	0.122000	0.22280	0.002000	0.10522	0.213000	0.24496	1.575000	0.36493	0.855000	0.35359	0.557000	0.71058	CGT		0.612	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
LY6E	4061	broad.mit.edu	37	8	144102845	144102845	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:144102845G>A	ENST00000520466.1	+	4	570	c.167G>A	c.(166-168)gGc>gAc	p.G56D	LY6E_ENST00000522024.1_Missense_Mutation_p.G56D|LY6E_ENST00000521003.1_Missense_Mutation_p.G56D|LY6E_ENST00000522971.1_Missense_Mutation_p.G56D|LY6E_ENST00000523847.1_Missense_Mutation_p.G56D|LY6E_ENST00000521699.1_Missense_Mutation_p.G56D|LY6E_ENST00000519546.1_Missense_Mutation_p.G56D|LY6E_ENST00000519611.1_Missense_Mutation_p.G56D|LY6E_ENST00000521182.1_3'UTR|LY6E_ENST00000520531.1_Missense_Mutation_p.G56D|LY6E_ENST00000292494.6_Missense_Mutation_p.G56D|LY6E_ENST00000517503.1_3'UTR|LY6E_ENST00000429120.2_Missense_Mutation_p.G56D|LY6E_ENST00000522528.1_3'UTR			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	56	UPAR/Ly6.				adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)		p.G56D(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCTAGTGCCGGCATTGGTGAG	0.612																																					p.G56D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	8						.						105.0	95.0	98.0					8																	144102845		2203	4300	6503	144174220	SO:0001583	missense	4061	exon3			U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"""retinoic acid induced gene E"""	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.167G>A	8.37:g.144102845G>A	ENSP00000428572:p.Gly56Asp		144174220	NM_002346	B2R4X5|D3DWJ2|Q0VDE5	Missense_Mutation	SNP	ENST00000520466.1	37	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	g	18.04	3.535872	0.64972	.	.	ENSG00000160932	ENST00000517503;ENST00000292494;ENST00000429120;ENST00000521699;ENST00000520531;ENST00000520466;ENST00000521003;ENST00000522971;ENST00000519611;ENST00000519546;ENST00000523847;ENST00000522024	T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	3.39	3.39	0.38822	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.000000	0.53938	D	0.000045	T	0.79381	0.4436	M	0.78916	2.43	0.33532	D	0.593719	D	0.89917	1.0	D	0.91635	0.999	D	0.84690	0.0722	10	0.66056	D	0.02	-5.4317	10.5703	0.45196	0.0:0.0:1.0:0.0	.	56	Q16553	LY6E_HUMAN	D	56	ENSP00000292494:G56D;ENSP00000414307:G56D;ENSP00000427915:G56D;ENSP00000430131:G56D;ENSP00000428572:G56D;ENSP00000428169:G56D;ENSP00000428159:G56D;ENSP00000430796:G56D;ENSP00000428467:G56D;ENSP00000430700:G56D;ENSP00000428442:G56D	ENSP00000292494:G56D	G	+	2	0	LY6E	144174220	0.023000	0.18921	0.561000	0.28357	0.065000	0.16274	1.319000	0.33655	2.200000	0.70718	0.655000	0.94253	GGC		0.612	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	NM_001127213	
TOP1MT	116447	broad.mit.edu	37	8	144398237	144398237	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:144398237T>C	ENST00000329245.4	-	11	1424	c.1390A>G	c.(1390-1392)Att>Gtt	p.I464V	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I366V|TOP1MT_ENST00000523676.1_Missense_Mutation_p.I366V|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I366V|AC087793.1_ENST00000585120.1_RNA	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	464					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.I464V(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)	TTGCAGAGAATGGCCACGACT	0.607																																					p.I464V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1390G	8						.						187.0	161.0	170.0					8																	144398237		2203	4300	6503	144469612	SO:0001583	missense	116447	exon11			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.1390A>G	8.37:g.144398237T>C	ENSP00000328835:p.Ile464Val		144469612	NM_052963	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.008123	0.35415	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.37	-6.0	0.02206	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.472817	0.17230	N	0.181979	T	0.26810	0.0656	L	0.55103	1.725	0.40719	D	0.98264	B;B	0.15473	0.013;0.001	B;B	0.21708	0.036;0.012	T	0.05386	-1.0888	10	0.44086	T	0.13	-4.8163	1.1625	0.01808	0.1392:0.2746:0.285:0.3013	.	259;464	E7ESI1;Q969P6	.;TOP1M_HUMAN	V	464;366;366;366	ENSP00000328835:I464V;ENSP00000428369:I366V;ENSP00000429169:I366V;ENSP00000429181:I366V	ENSP00000328835:I464V	I	-	1	0	TOP1MT	144469612	0.989000	0.36119	0.016000	0.15963	0.978000	0.69477	0.438000	0.21559	-1.539000	0.01732	-0.321000	0.08615	ATT		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963	
ARHGEF10	9639	broad.mit.edu	37	8	1876804	1876804	+	Missense_Mutation	SNP	C	C	T	rs35925274	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:1876804C>T	ENST00000398564.1	+	24	2984	c.2984C>T	c.(2983-2985)aCg>aTg	p.T995M	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.T994M|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.T970M|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.T932M|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.T966M			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	995					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.T747M(1)|p.T995M(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)		TGTGTAGGGACGGAGGAGGGA	0.622													C|||	5	0.000998403	0.0	0.0	5008	,	,		15777	0.003		0.002	False		,,,				2504	0.0				p.T970M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2909T	8						.	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	41.0	39.0	40.0		2909	4.7	0.8	8	dbSNP_126	40	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ARHGEF10	NM_014629.2	81	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign	970/1345	1876804	6,13000	2203	4300	6503	1864211	SO:0001583	missense	9639	exon24			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.2984C>T	8.37:g.1876804C>T	ENSP00000381571:p.Thr995Met		1864211	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	11.70	1.717612	0.30413	2.27E-4	5.81E-4	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.13;-0.13	5.54	4.66	0.58398	.	0.135385	0.64402	N	0.000006	T	0.44993	0.1320	N	0.20483	0.58	0.80722	D	1	B;P	0.36495	0.447;0.556	B;B	0.31614	0.063;0.133	T	0.41963	-0.9479	10	0.39692	T	0.17	-24.9022	6.6484	0.22949	0.0:0.6971:0.0:0.3029	rs35925274	932;970	O15013-7;O15013-5	.;.	M	970;932;994;995;966;614	ENSP00000340297:T970M;ENSP00000427909:T932M;ENSP00000431012:T994M;ENSP00000381571:T995M;ENSP00000262112:T966M;ENSP00000427768:T614M	ENSP00000262112:T966M	T	+	2	0	ARHGEF10	1864211	1.000000	0.71417	0.780000	0.31762	0.625000	0.37756	4.397000	0.59690	1.333000	0.45449	0.655000	0.94253	ACG		0.622	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
CSMD1	64478	broad.mit.edu	37	8	2836143	2836143	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:2836143T>C	ENST00000520002.1	-	56	9115	c.8560A>G	c.(8560-8562)Aag>Gag	p.K2854E	CSMD1_ENST00000537824.1_Missense_Mutation_p.K2853E|CSMD1_ENST00000602723.1_Missense_Mutation_p.K2796E|CSMD1_ENST00000542608.1_Missense_Mutation_p.K2795E|CSMD1_ENST00000400186.3_Missense_Mutation_p.K2796E|CSMD1_ENST00000602557.1_Missense_Mutation_p.K2854E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2854	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.K2853E(1)|p.K2582E(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)		CCCAAACACTTGGGCAGGGAT	0.458																																					p.Q2853R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A8558G	8						.						49.0	43.0	45.0					8																	2836143		1877	4112	5989	2823550	SO:0001583	missense	64478	exon55					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.8560A>G	8.37:g.2836143T>C	ENSP00000430733:p.Lys2854Glu		2823550	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.141|0.141	-1.101684|-1.101684	0.01828|0.01828	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.63096|.	-0.02;-0.02;-0.02;-0.02|.	4.89|4.89	3.71|3.71	0.42584|0.42584	Complement control module (2);Sushi/SCR/CCP (3);|.	0.072294|.	0.53938|.	D|.	0.000049|.	T|T	0.36468|0.36468	0.0968|0.0968	N|N	0.11651|0.11651	0.15|0.15	0.51233|0.51233	D|D	0.999918|0.999918	B;B;B|.	0.32939|.	0.165;0.0;0.391|.	B;B;B|.	0.34536|.	0.076;0.004;0.185|.	T|T	0.08889|0.08889	-1.0700|-1.0700	10|5	0.02654|.	T|.	1|.	.|.	11.7412|11.7412	0.51794|0.51794	0.0:0.0:0.1478:0.8522|0.0:0.0:0.1478:0.8522	.|.	2854;2854;2795|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	E|R	2796;2854;2715;2853;2795|2270	ENSP00000383047:K2796E;ENSP00000430733:K2854E;ENSP00000441462:K2853E;ENSP00000446243:K2795E|.	ENSP00000320445:K2715E|.	K|Q	-|-	1|2	0|0	CSMD1|CSMD1	2823550|2823550	0.995000|0.995000	0.38212|0.38212	0.829000|0.829000	0.32907|0.32907	0.496000|0.496000	0.33645|0.33645	1.838000|1.838000	0.39211|0.39211	0.684000|0.684000	0.31448|0.31448	0.460000|0.460000	0.39030|0.39030	AAG|CAA		0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2876120	2876120	+	Silent	SNP	C	C	T	rs374916113		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:2876120C>T	ENST00000520002.1	-	53	8466	c.7911G>A	c.(7909-7911)acG>acA	p.T2637T	CSMD1_ENST00000537824.1_Silent_p.T2636T|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Silent_p.T2637T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2637	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T2636T(2)|p.T2365T(2)		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)		AAACTGTCAACGTTCCAATCT	0.453																																					p.V2637I												.	.	4	Substitution - coding silent(4)	large_intestine(2)|prostate(2)	c.G7909A	8						.	C		1,3869		0,1,1934	146.0	142.0	143.0		7908	-4.7	0.0	8		143	0,8274		0,0,4137	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6071	TT,TC,CC		0.0,0.0258,0.0082		2636/3565	2876120	1,12143	1935	4137	6072	2863527	SO:0001819	synonymous_variant	64478	exon52					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.7911G>A	8.37:g.2876120C>T			2863527	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	0.142	-1.101143	0.01843	2.58E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.19	-4.65	0.03339	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39742	-0.9599	4	.	.	.	.	0.4281	0.00467	0.258:0.1481:0.2267:0.3671	.	.	.	.	I	2054	.	.	V	-	1	0	CSMD1	2863527	0.000000	0.05858	0.013000	0.15412	0.062000	0.15995	-4.050000	0.00305	-0.544000	0.06232	-0.137000	0.14449	GTT		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
SGK223	157285	broad.mit.edu	37	8	8175832	8175832	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:8175832G>T	ENST00000520004.1	-	6	4317	c.4053C>A	c.(4051-4053)atC>atA	p.I1351I	SGK223_ENST00000330777.4_Silent_p.I1351I			Q86YV5	SG223_HUMAN		1355							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I1353I(1)|p.I1351I(1)									GCTTCATGTCGATCCAGTTGT	0.672																																					p.I1351I	GBM(34;731 755 10259 33573 33867)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4053A	8						.						92.0	105.0	100.0					8																	8175832		2134	4232	6366	8213242	SO:0001819	synonymous_variant	157285	exon5																														ENST00000520004.1:c.4053C>A	8.37:g.8175832G>T			8213242	NM_001080826	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																				0.672	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
SGK223	157285	broad.mit.edu	37	8	8176275	8176275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:8176275G>A	ENST00000520004.1	-	6	3874	c.3610C>T	c.(3610-3612)Cag>Tag	p.Q1204*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.Q1204*			Q86YV5	SG223_HUMAN		1208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.Q1204*(1)|p.Q1206*(1)									CGGGGCAGCTGCTTCTCCCGG	0.726																																					p.Q1204X	GBM(34;731 755 10259 33573 33867)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3610T	8						.						12.0	14.0	13.0					8																	8176275		1842	4060	5902	8213685	SO:0001587	stop_gained	157285	exon5																														ENST00000520004.1:c.3610C>T	8.37:g.8176275G>A	ENSP00000428054:p.Gln1204*		8213685	NM_001080826	Q8N3N5	Nonsense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	40	8.072887	0.98640	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	.	.	.	5.48	3.63	0.41609	.	0.515981	0.22355	N	0.061158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	5.1447	0.14979	0.2386:0.0:0.6183:0.1431	.	.	.	.	X	1204	.	ENSP00000330930:Q1204X	Q	-	1	0	AC068353.1	8213685	0.007000	0.16637	0.998000	0.56505	0.262000	0.26303	-0.229000	0.09098	0.758000	0.33059	0.467000	0.42956	CAG		0.726	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
PIWIL2	55124	broad.mit.edu	37	8	22137090	22137090	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:22137090C>T	ENST00000454009.2	+	2	700	c.191C>T	c.(190-192)gCa>gTa	p.A64V	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A64V|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A64V	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	64					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.A64V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGGGGGCCAGCACAAAGGGTA	0.552																																					p.A64V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C191T	8						.						70.0	73.0	72.0					8																	22137090		2203	4300	6503	22193035	SO:0001583	missense	55124	exon2			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.191C>T	8.37:g.22137090C>T	ENSP00000406956:p.Ala64Val		22193035	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666776	0.29604	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04360	3.64;3.65;3.64	5.46	0.796	0.18648	.	1.059750	0.07305	N	0.874860	T	0.02304	0.0071	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48317	-0.9046	10	0.24483	T	0.36	-1.805	4.1186	0.10094	0.1595:0.5007:0.0:0.3398	.	64;64	E7ECA4;Q8TC59	.;PIWL2_HUMAN	V	64	ENSP00000349208:A64V;ENSP00000428267:A64V;ENSP00000406956:A64V	ENSP00000349208:A64V	A	+	2	0	PIWIL2	22193035	0.010000	0.17322	0.016000	0.15963	0.957000	0.61999	0.249000	0.18216	0.155000	0.19261	0.650000	0.86243	GCA		0.552	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
TNFRSF10B	8795	broad.mit.edu	37	8	22880376	22880376	+	Silent	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:22880376G>T	ENST00000276431.4	-	9	1415	c.1131C>A	c.(1129-1131)ggC>ggA	p.G377G	TNFRSF10B_ENST00000542226.1_Silent_p.G197G|TNFRSF10B_ENST00000347739.3_Silent_p.G348G	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	377	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)	p.G377G(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGTCCCTGTGGCCCGCTGCCT	0.562																																					p.G377G	GBM(94;1064 1342 1839 21060 42553)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1131A	8						.						132.0	108.0	116.0					8																	22880376		2203	4300	6503	22936321	SO:0001819	synonymous_variant	8795	exon9			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.1131C>A	8.37:g.22880376G>T			22936321	NM_003842	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Silent	SNP	ENST00000276431.4	37	CCDS6035.1																																																																																				0.562	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187	
ADAM28	10863	broad.mit.edu	37	8	24193084	24193084	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:24193084C>T	ENST00000265769.4	+	14	1607	c.1497C>T	c.(1495-1497)caC>caT	p.H499H	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Silent_p.H266H|ADAM28_ENST00000437154.2_Silent_p.H499H|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.H246H|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	499	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H499H(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTTGCCATCACGGGAAGGGCC	0.522																																					p.H499H	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1497T	8						.						106.0	94.0	98.0					8																	24193084		2203	4300	6503	24249029	SO:0001819	synonymous_variant	10863	exon14			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1497C>T	8.37:g.24193084C>T			24249029	NM_021777	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.658262	0.00779	.	.	ENSG00000042980	ENST00000521629	.	.	.	5.8	-6.02	0.02192	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53012	-0.8498	4	.	.	.	.	8.9871	0.36001	0.0:0.3868:0.1021:0.5111	.	.	.	.	W	132	.	.	R	+	1	2	ADAM28	24249029	0.004000	0.15560	0.019000	0.16419	0.004000	0.04260	-0.916000	0.04029	-1.120000	0.02953	-2.888000	0.00096	CGG		0.522	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
CDCA2	157313	broad.mit.edu	37	8	25340996	25340996	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:25340996G>A	ENST00000330560.3	+	9	1591	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	CDCA2_ENST00000380665.3_Missense_Mutation_p.E357K|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	372					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E372K(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAAAGAGAAAGAAGCAGGTAA	0.313																																					p.E372K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114A	8						.						77.0	74.0	75.0					8																	25340996		2203	4298	6501	25396913	SO:0001583	missense	157313	exon9			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1114G>A	8.37:g.25340996G>A	ENSP00000328228:p.Glu372Lys		25396913	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.878871	0.00537	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.27104	1.7;1.69	5.19	1.41	0.22369	.	0.470956	0.21594	N	0.072057	T	0.07279	0.0184	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.40079	-0.9582	10	0.02654	T	1	-10.3902	7.2221	0.25994	0.7174:0.0:0.2826:0.0	.	372;357;372	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	K	372;357	ENSP00000328228:E372K;ENSP00000370040:E357K	ENSP00000328228:E372K	E	+	1	0	CDCA2	25396913	0.820000	0.29190	0.287000	0.24848	0.002000	0.02628	1.437000	0.34991	0.133000	0.18654	-0.312000	0.09012	GAA		0.313	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
EXTL3	2137	broad.mit.edu	37	8	28573840	28573840	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:28573840G>A	ENST00000220562.4	+	3	1166	c.264G>A	c.(262-264)tcG>tcA	p.S88S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	88					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.S88S(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCGGGAGTCGGTGAGTGAAG	0.582																																					p.S88S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G264A	8						.						59.0	58.0	58.0					8																	28573840		2203	4300	6503	28629759	SO:0001819	synonymous_variant	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.264G>A	8.37:g.28573840G>A			28629759	NM_001440	D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	CCDS6070.1																																																																																				0.582	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
TEX15	56154	broad.mit.edu	37	8	30702105	30702105	+	Silent	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:30702105T>G	ENST00000256246.2	-	1	4503	c.4429A>C	c.(4429-4431)Aga>Cga	p.R1477R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1477					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.R1477R(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)		GTCATGCTTCTTTTGTAAACA	0.338																																					p.R1477R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4429C	8						.						127.0	125.0	125.0					8																	30702105		2203	4300	6503	30821647	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.4429A>C	8.37:g.30702105T>G			30821647	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PROSC	11212	broad.mit.edu	37	8	37623093	37623093	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:37623093C>T	ENST00000328195.3	+	2	216	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	50					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AAAACCAAACCTGCAGACATG	0.537																																					p.P50L												.	.	0			c.C149T	8						.						190.0	195.0	193.0					8																	37623093		2203	4300	6503	37742251	SO:0001583	missense	11212	exon2			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.149C>T	8.37:g.37623093C>T	ENSP00000333551:p.Pro50Leu		37742251	NM_007198	Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446702	0.96205	.	.	ENSG00000147471	ENST00000328195;ENST00000523358	T;T	0.48522	0.81;0.81	5.61	5.61	0.85477	Alanine racemase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85455	0.1163	10	0.87932	D	0	-25.9466	19.2462	0.93904	0.0:1.0:0.0:0.0	.	50	O94903	PROSC_HUMAN	L	50	ENSP00000333551:P50L;ENSP00000427778:P50L	ENSP00000333551:P50L	P	+	2	0	PROSC	37742251	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.497000	0.81536	2.646000	0.89796	0.563000	0.77884	CCT		0.537	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198	
WHSC1L1	54904	broad.mit.edu	37	8	38137154	38137154	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:38137154T>C	ENST00000317025.8	-	21	4181	c.3664A>G	c.(3664-3666)Atg>Gtg	p.M1222V	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.M1173V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.M1211V|RP11-513D5.5_ENST00000529325.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1222	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.M1222V(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGTGGTTCATGAAGCGAGAA	0.398			T	NUP98	AML																																p.M1222V			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3664G	8						.						143.0	133.0	136.0					8																	38137154		1888	4143	6031	38256311	SO:0001583	missense	54904	exon21			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3664A>G	8.37:g.38137154T>C	ENSP00000313983:p.Met1222Val		38256311	NM_023034	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648789	0.67358	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	T;T;T	0.80909	-1.43;-1.43;-1.43	5.74	5.74	0.90152	SET domain (3);	0.000000	0.64402	U	0.000015	T	0.70360	0.3215	L	0.31371	0.925	0.80722	D	1	P;P;B	0.37441	0.595;0.54;0.084	B;B;B	0.28916	0.096;0.058;0.027	T	0.74861	-0.3520	10	0.87932	D	0	.	16.0343	0.80612	0.0:0.0:0.0:1.0	.	1211;1173;1222	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	V	1173;1222;1159;1211	ENSP00000393284:M1173V;ENSP00000313983:M1222V;ENSP00000434730:M1211V	ENSP00000313983:M1222V	M	-	1	0	WHSC1L1	38256311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.276000	0.72601	2.198000	0.70561	0.533000	0.62120	ATG		0.398	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	
ANK1	286	broad.mit.edu	37	8	41573207	41573207	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:41573207A>T	ENST00000347528.4	-	14	1648	c.1565T>A	c.(1564-1566)cTt>cAt	p.L522H	ANK1_ENST00000265709.8_Missense_Mutation_p.L555H|ANK1_ENST00000396942.1_Missense_Mutation_p.L522H|ANK1_ENST00000396945.1_Missense_Mutation_p.L522H|ANK1_ENST00000379758.2_Missense_Mutation_p.L522H|ANK1_ENST00000352337.4_Missense_Mutation_p.L522H|ANK1_ENST00000289734.7_Missense_Mutation_p.L522H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	522	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L522H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTTTCCAGAAGGGCCAGGAC	0.622																																					p.L522H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1565A	8						.						86.0	77.0	80.0					8																	41573207		2203	4300	6503	41692364	SO:0001583	missense	286	exon14			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1565T>A	8.37:g.41573207A>T	ENSP00000339620:p.Leu522His		41692364	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770055	0.90020	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.066229	0.64402	D	0.000010	D	0.97436	0.9161	H	0.98594	4.275	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	0.87578	0.986;0.99;0.994;0.998;0.99	D	0.98985	1.0806	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	555;522;522;522;522	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	H	522;522;522;522;522;522;555;522	ENSP00000339620:L522H;ENSP00000289734:L522H;ENSP00000369082:L522H;ENSP00000380149:L522H;ENSP00000380147:L522H;ENSP00000309131:L522H;ENSP00000265709:L555H	ENSP00000265709:L555H	L	-	2	0	ANK1	41692364	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	9.239000	0.95389	2.313000	0.78055	0.454000	0.30748	CTT		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
KAT6A	7994	broad.mit.edu	37	8	41798808	41798808	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:41798808C>T	ENST00000396930.3	-	16	3134	c.2591G>A	c.(2590-2592)cGg>cAg	p.R864Q	KAT6A_ENST00000406337.1_Missense_Mutation_p.R864Q|KAT6A_ENST00000265713.2_Missense_Mutation_p.R864Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	864					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R864Q(2)									GCGGCCCCTCCGAGATGGCTG	0.473																																					p.R864Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G2591A	8						.						87.0	88.0	87.0					8																	41798808		2203	4300	6503	41917965	SO:0001583	missense	7994	exon16			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2591G>A	8.37:g.41798808C>T	ENSP00000380136:p.Arg864Gln		41917965	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276267	0.59649	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60299	0.2;0.2;0.2	5.67	5.67	0.87782	.	0.085770	0.49916	D	0.000125	T	0.65069	0.2656	L	0.32530	0.975	0.38098	D	0.937163	D	0.76494	0.999	D	0.72625	0.978	T	0.59123	-0.7513	10	0.13470	T	0.59	-8.6785	17.9519	0.89056	0.0:1.0:0.0:0.0	.	864	Q92794	KAT6A_HUMAN	Q	864;864;864;444	ENSP00000265713:R864Q;ENSP00000385888:R864Q;ENSP00000380136:R864Q	ENSP00000265713:R864Q	R	-	2	0	KAT6A	41917965	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.038000	0.64177	2.666000	0.90696	0.655000	0.94253	CGG		0.473	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
HGSNAT	138050	broad.mit.edu	37	8	43002176	43002176	+	Silent	SNP	C	C	A	rs199816365	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:43002176C>A	ENST00000458501.2	+	2	288	c.288C>A	c.(286-288)acC>acA	p.T96T	HGSNAT_ENST00000379644.4_Silent_p.T68T			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	96					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.T96T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCAACTTGACCGTCTACTGGA	0.408																																					p.T68T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204A	8						.						142.0	137.0	139.0					8																	43002176		1913	4130	6043	43121333	SO:0001819	synonymous_variant	138050	exon2				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.288C>A	8.37:g.43002176C>A			43121333	NM_152419	B4E2V0	Silent	SNP	ENST00000458501.2	37																																																																																					0.408	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
PXDNL	137902	broad.mit.edu	37	8	52366157	52366157	+	Missense_Mutation	SNP	G	G	A	rs141730527	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:52366157G>A	ENST00000356297.4	-	10	1271	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	PXDNL_ENST00000543296.1_Missense_Mutation_p.R391W	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	391	Ig-like C2-type 2.				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.R391W(1)		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)				CCATGATCCCGTTGTGTGATG	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		17156	0.0		0.002	False		,,,				2504	0.0				p.R391W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	8						.	G	TRP/ARG	1,4221		0,1,2110	141.0	141.0	141.0		1171	0.9	0.0	8	dbSNP_134	141	23,8417		0,23,4197	yes	missense	PXDNL	NM_144651.4	101	0,24,6307	AA,AG,GG		0.2725,0.0237,0.1895	benign	391/1464	52366157	24,12638	2111	4220	6331	52528710	SO:0001583	missense	137902	exon10				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.1171C>T	8.37:g.52366157G>A	ENSP00000348645:p.Arg391Trp		52528710	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.730	-0.055718	0.07362	2.37E-4	0.002725	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.28069	1.63;1.63	3.95	0.949	0.19566	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25568	0.0622	L	0.60904	1.88	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34453	-0.9828	9	0.66056	D	0.02	.	2.5722	0.04798	0.1107:0.1828:0.5187:0.1878	.	391	A1KZ92	PXDNL_HUMAN	W	391	ENSP00000348645:R391W;ENSP00000444865:R391W	ENSP00000348645:R391W	R	-	1	2	PXDNL	52528710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.114000	0.15520	-0.156000	0.11079	0.650000	0.86243	CGG		0.488	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
OPRK1	4986	broad.mit.edu	37	8	54142270	54142270	+	Missense_Mutation	SNP	C	C	T	rs200159306		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:54142270C>T	ENST00000265572.3	-	4	1027	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.V244I|OPRK1_ENST00000524278.1_Missense_Mutation_p.V155I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	244					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.V244I(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GTGTAGCAGACGATGATGATG	0.537																																					p.V244I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730A	8						.						92.0	97.0	95.0					8																	54142270		2203	4300	6503	54304823	SO:0001583	missense	4986	exon4				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.730G>A	8.37:g.54142270C>T	ENSP00000265572:p.Val244Ile		54304823	NM_000912	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	8.429	0.848143	0.17034	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.37235	1.21;1.21;1.21	5.64	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.341047	0.34046	N	0.004301	T	0.18551	0.0445	N	0.11927	0.2	0.50039	D	0.999842	B	0.12630	0.006	B	0.20577	0.03	T	0.06625	-1.0816	10	0.20046	T	0.44	.	8.4603	0.32923	0.0:0.6757:0.0:0.3243	.	244	P41145	OPRK_HUMAN	I	244;155;244;230	ENSP00000265572:V244I;ENSP00000430923:V155I;ENSP00000429706:V244I	ENSP00000265572:V244I	V	-	1	0	OPRK1	54304823	0.148000	0.22702	0.428000	0.26697	0.358000	0.29455	0.778000	0.26732	0.234000	0.21139	0.650000	0.86243	GTC		0.537	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
ATP6V1H	51606	broad.mit.edu	37	8	54682216	54682216	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:54682216A>G	ENST00000359530.2	-	11	1400	c.1137T>C	c.(1135-1137)aaT>aaC	p.N379N	ATP6V1H_ENST00000396774.2_Silent_p.N379N|ATP6V1H_ENST00000523899.1_5'UTR|ATP6V1H_ENST00000520188.1_Silent_p.N339N|ATP6V1H_ENST00000355221.3_Silent_p.N361N	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	379					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.N361N(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ACCTCACAGCATTCTCTCTCC	0.338																																					p.N379N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1137C	8						.						107.0	106.0	106.0					8																	54682216		2202	4298	6500	54844769	SO:0001819	synonymous_variant	51606	exon11			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1137T>C	8.37:g.54682216A>G			54844769	NM_015941	B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Silent	SNP	ENST00000359530.2	37	CCDS6153.1																																																																																				0.338	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941	
FAM110B	90362	broad.mit.edu	37	8	59059172	59059172	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:59059172C>T	ENST00000361488.3	+	5	1263	c.383C>T	c.(382-384)tCc>tTc	p.S128F	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	128						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S128F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCAATAGCTCCGAGGGCTCT	0.632																																					p.S128F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383T	8						.						34.0	35.0	34.0					8																	59059172		2203	4300	6503	59221726	SO:0001583	missense	90362	exon5			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.383C>T	8.37:g.59059172C>T	ENSP00000355204:p.Ser128Phe		59221726	NM_147189	Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465042	0.63513	.	.	ENSG00000169122	ENST00000361488	T	0.35605	1.3	5.39	5.39	0.77823	.	0.118725	0.64402	D	0.000014	T	0.50309	0.1608	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.38286	-0.9668	9	.	.	.	-30.9831	19.1319	0.93412	0.0:1.0:0.0:0.0	.	128	Q8TC76	F110B_HUMAN	F	128	ENSP00000355204:S128F	.	S	+	2	0	FAM110B	59221726	0.997000	0.39634	0.998000	0.56505	0.958000	0.62258	3.526000	0.53509	2.522000	0.85027	0.455000	0.32223	TCC		0.632	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189	
TOX	9760	broad.mit.edu	37	8	59764163	59764163	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:59764163G>A	ENST00000361421.1	-	4	833	c.613C>T	c.(613-615)Cca>Tca	p.P205S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	205						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P205S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGTGGAGATGGTGAGTTGTGG	0.448																																					p.P205S	Pancreas(161;610 1969 17913 21374 22725)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C613T	8						.						158.0	132.0	141.0					8																	59764163		2203	4300	6503	59926717	SO:0001583	missense	9760	exon4				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.613C>T	8.37:g.59764163G>A	ENSP00000354842:p.Pro205Ser		59926717	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294611	0.81025	.	.	ENSG00000198846	ENST00000361421	T	0.15603	2.41	5.82	5.82	0.92795	.	0.165039	0.52532	N	0.000065	T	0.45438	0.1342	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.17653	-1.0362	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	205	O94900	TOX_HUMAN	S	205	ENSP00000354842:P205S	.	P	-	1	0	TOX	59926717	1.000000	0.71417	0.610000	0.28997	0.478000	0.33099	9.869000	0.99810	2.755000	0.94549	0.555000	0.69702	CCA		0.448	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
CHD7	55636	broad.mit.edu	37	8	61767019	61767019	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:61767019C>T	ENST00000423902.2	+	32	7352	c.6873C>T	c.(6871-6873)gaC>gaT	p.D2291D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2291					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.D2291D(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACATGGAGGACGGAGATCCTT	0.458																																					p.D2291D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6873T	8						.						201.0	181.0	187.0					8																	61767019		1882	4114	5996	61929573	SO:0001819	synonymous_variant	55636	exon32			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6873C>T	8.37:g.61767019C>T			61929573	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
CSPP1	79848	broad.mit.edu	37	8	67998286	67998286	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:67998286C>T	ENST00000262210.5	+	4	383	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_5'Flank	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	118					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.R118W(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGACTATGAACGGAAGAAACA	0.303																																					p.R118W												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C352T	8						.						124.0	120.0	121.0					8																	67998286		1820	4065	5885	68160840	SO:0001583	missense	79848	exon4			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.352C>T	8.37:g.67998286C>T	ENSP00000262210:p.Arg118Trp		68160840	NM_024790	A6ND63|Q70F00|Q8TBC1	De_novo_Start_OutOfFrame	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844705	0.71488	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.63744	-0.06;0.89	5.6	3.66	0.41972	.	0.259072	0.15515	U	0.258337	T	0.69187	0.3083	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.59948	0.866;0.736;0.736	T	0.70605	-0.4826	10	0.87932	D	0	-0.2026	11.2345	0.48931	0.2138:0.6755:0.1106:0.0	.	118;118;118	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	W	82;118;118	ENSP00000429546:R82W;ENSP00000262210:R118W	ENSP00000262210:R118W	R	+	1	2	CSPP1	68160840	0.994000	0.37717	1.000000	0.80357	0.831000	0.47069	0.273000	0.18662	2.631000	0.89168	0.585000	0.79938	CGG		0.303	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
CPA6	57094	broad.mit.edu	37	8	68396916	68396916	+	Missense_Mutation	SNP	T	T	C	rs147282359		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:68396916T>C	ENST00000297770.4	-	7	960	c.745A>G	c.(745-747)Aat>Gat	p.N249D	CPA6_ENST00000518549.1_Missense_Mutation_p.N249D|CPA6_ENST00000297769.4_Missense_Mutation_p.N101D	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	249			N -> S (in dbSNP:rs17343819).			proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.N249D(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGACTTACATTGGTCCAACTA	0.378																																					p.N249D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A745G	8						.						106.0	95.0	99.0					8																	68396916		2203	4300	6503	68559470	SO:0001583	missense	57094	exon7			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.745A>G	8.37:g.68396916T>C	ENSP00000297770:p.Asn249Asp		68559470	NM_020361	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984323	0.35036	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.10382	2.88;2.88;2.88	5.25	-0.0937	0.13648	Peptidase M14, carboxypeptidase A (2);	0.431443	0.27650	N	0.018439	T	0.04998	0.0134	N	0.11756	0.17	0.22754	N	0.99877	B;P;B	0.35363	0.306;0.497;0.0	B;B;B	0.31016	0.1;0.123;0.007	T	0.37619	-0.9698	10	0.33940	T	0.23	.	10.5687	0.45188	0.0:0.084:0.6667:0.2492	.	249;101;249	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	D	101;249;249	ENSP00000297769:N101D;ENSP00000297770:N249D;ENSP00000431112:N249D	ENSP00000297769:N101D	N	-	1	0	CPA6	68559470	0.999000	0.42202	0.991000	0.47740	0.943000	0.58893	3.026000	0.49689	-0.178000	0.10672	-0.329000	0.08387	AAT		0.378	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	
PRDM14	63978	broad.mit.edu	37	8	70981632	70981632	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:70981632G>A	ENST00000276594.2	-	2	665	c.464C>T	c.(463-465)gCg>gTg	p.A155V		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	155					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A155V(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGAAGCATCCGCAGGGGGCGG	0.567																																					p.A155V	NSCLC(129;99 1813 5906 40656 46114)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	8						.						62.0	61.0	61.0					8																	70981632		2203	4300	6503	71144186	SO:0001583	missense	63978	exon2			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.464C>T	8.37:g.70981632G>A	ENSP00000276594:p.Ala155Val		71144186	NM_024504	Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	3.904	-0.021525	0.07634	.	.	ENSG00000147596	ENST00000276594	T	0.06933	3.24	5.06	-2.16	0.07080	.	0.868091	0.10160	N	0.708494	T	0.02012	0.0063	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46884	-0.9159	10	0.18276	T	0.48	-4.1231	3.4597	0.07528	0.3309:0.0:0.2728:0.3963	.	155	Q9GZV8	PRD14_HUMAN	V	155	ENSP00000276594:A155V	ENSP00000276594:A155V	A	-	2	0	PRDM14	71144186	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.711000	0.05019	-0.132000	0.11557	-0.238000	0.12139	GCG		0.567	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
TRPA1	8989	broad.mit.edu	37	8	72948636	72948636	+	Silent	SNP	C	C	T	rs146434598	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:72948636C>T	ENST00000262209.4	-	21	2649	c.2442G>A	c.(2440-2442)acG>acA	p.T814T	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	814					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.T814T(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATGATGCCCGTCGTGTAGA	0.353													C|||	4	0.000798722	0.0	0.0	5008	,	,		18062	0.004		0.0	False		,,,				2504	0.0				p.T814T												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G2442A	8						.	C		0,4406		0,0,2203	62.0	62.0	62.0		2442	-9.7	0.7	8	dbSNP_134	62	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	TRPA1	NM_007332.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		814/1120	72948636	5,13001	2203	4300	6503	73111190	SO:0001819	synonymous_variant	8989	exon21			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2442G>A	8.37:g.72948636C>T			73111190	NM_007332	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
CRISPLD1	83690	broad.mit.edu	37	8	75925139	75925139	+	Missense_Mutation	SNP	C	C	T	rs200273072		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:75925139C>T	ENST00000262207.4	+	4	860	c.392C>T	c.(391-393)aCg>aTg	p.T131M	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	131	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.T131M(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGCCCCCGACGTTTCATGTA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		14686	0.001		0.0	False		,,,				2504	0.0				p.T131M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C392T	8						.						103.0	97.0	99.0					8																	75925139		2203	4300	6503	76087694	SO:0001583	missense	83690	exon4			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.392C>T	8.37:g.75925139C>T	ENSP00000262207:p.Thr131Met		76087694	NM_031461	B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.0	4.477867	0.84747	.	.	ENSG00000121005	ENST00000262207	T	0.08282	3.11	5.24	5.24	0.73138	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	M	0.61387	1.9	0.80722	D	1	D	0.65815	0.995	P	0.59171	0.853	T	0.00090	-1.2086	10	0.45353	T	0.12	.	19.0128	0.92881	0.0:1.0:0.0:0.0	.	131	Q9H336	CRLD1_HUMAN	M	131	ENSP00000262207:T131M	ENSP00000262207:T131M	T	+	2	0	CRISPLD1	76087694	1.000000	0.71417	0.989000	0.46669	0.671000	0.39405	7.536000	0.82023	2.733000	0.93635	0.557000	0.71058	ACG		0.373	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461	
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	C	T	rs375327925		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:77776234C>T	ENST00000521891.2	+	11	10732	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F	ZFHX4_ENST00000518282.1_Silent_p.F3402F|ZFHX4_ENST00000050961.6_Silent_p.F3379F|ZFHX4_ENST00000455469.2_Silent_p.F3383F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3379					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.F3412F(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)			TCTGTTATTTCGGTCAGCCTT	0.438										HNSCC(33;0.089)																											p.F3428F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10284T	8						.						66.0	60.0	62.0					8																	77776234		1926	4146	6072	77938789	SO:0001819	synonymous_variant	79776	exon11				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.10284C>T	8.37:g.77776234C>T			77938789	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ATP6V0D2	245972	broad.mit.edu	37	8	87111221	87111221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:87111221C>T	ENST00000285393.3	+	1	156	c.14C>T	c.(13-15)gCg>gTg	p.A5V	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	5					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.A5V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CTCGAAGGTGCGGAGCTGTAC	0.562																																					p.A5V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14T	8						.						133.0	102.0	112.0					8																	87111221		2203	4300	6503	87180337	SO:0001583	missense	245972	exon1			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.14C>T	8.37:g.87111221C>T	ENSP00000285393:p.Ala5Val		87180337	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130580	0.56828	.	.	ENSG00000147614	ENST00000521564;ENST00000523635;ENST00000285393	T	0.31510	1.49	5.56	4.67	0.58626	.	0.214056	0.38959	N	0.001519	T	0.22589	0.0545	L	0.34521	1.04	0.09310	N	1	B	0.31837	0.342	B	0.24541	0.054	T	0.10177	-1.0641	10	0.37606	T	0.19	2.24	13.596	0.61991	0.1565:0.8435:0.0:0.0	.	5	Q8N8Y2	VA0D2_HUMAN	V	5	ENSP00000285393:A5V	ENSP00000285393:A5V	A	+	2	0	ATP6V0D2	87180337	0.589000	0.26807	0.021000	0.16686	0.114000	0.19823	3.782000	0.55401	1.321000	0.45227	0.591000	0.81541	GCG		0.562	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
CNBD1	168975	broad.mit.edu	37	8	87878804	87878804	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:87878804T>C	ENST00000518476.1	+	1	132	c.81T>C	c.(79-81)agT>agC	p.S27S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	27								p.S27S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CACTTCACAGTATACCAAGTG	0.443																																					p.S27S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T81C	8						.						98.0	89.0	92.0					8																	87878804		1948	4139	6087	87947920	SO:0001819	synonymous_variant	168975	exon1			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.81T>C	8.37:g.87878804T>C			87947920	NM_173538		Silent	SNP	ENST00000518476.1	37	CCDS55259.1																																																																																				0.443	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
CNBD1	168975	broad.mit.edu	37	8	88218348	88218348	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:88218348T>C	ENST00000518476.1	+	5	610	c.559T>C	c.(559-561)Tgg>Cgg	p.W187R	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	187								p.W187R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTCCGAAACCTGGTTGAAAGG	0.363																																					p.W187R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T559C	8						.						77.0	73.0	74.0					8																	88218348		1848	4101	5949	88287464	SO:0001583	missense	168975	exon5			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.559T>C	8.37:g.88218348T>C	ENSP00000430073:p.Trp187Arg		88287464	NM_173538		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223673	0.39300	.	.	ENSG00000176571	ENST00000518476	D	0.96491	-4.03	5.02	5.02	0.67125	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.288280	0.25313	N	0.031579	D	0.97139	0.9065	L	0.58101	1.795	0.29262	N	0.871292	D	0.89917	1.0	D	0.85130	0.997	D	0.93905	0.7192	10	0.59425	D	0.04	-0.3155	11.1818	0.48633	0.0:0.0:0.0:1.0	.	187	Q8NA66	CNBD1_HUMAN	R	187	ENSP00000430073:W187R	ENSP00000430073:W187R	W	+	1	0	CNBD1	88287464	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	3.640000	0.54350	1.893000	0.54813	0.378000	0.23410	TGG		0.363	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
CNBD1	168975	broad.mit.edu	37	8	88296959	88296959	+	Silent	SNP	G	G	A	rs374378962		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:88296959G>A	ENST00000518476.1	+	7	876	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	275								p.S275S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGAATGAATCGGAAACACAGA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17338	0.0		0.0	False		,,,				2504	0.0				p.S275S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G825A	8						.	G		1,3685		0,1,1842	79.0	74.0	76.0		825	-3.8	0.0	8		76	0,8176		0,0,4088	no	coding-synonymous	CNBD1	NM_173538.2		0,1,5930	AA,AG,GG		0.0,0.0271,0.0084		275/437	88296959	1,11861	1843	4088	5931	88366075	SO:0001819	synonymous_variant	168975	exon7			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.825G>A	8.37:g.88296959G>A			88366075	NM_173538		Silent	SNP	ENST00000518476.1	37	CCDS55259.1																																																																																				0.378	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
FAM92A1	137392	broad.mit.edu	37	8	94722000	94722000	+	Splice_Site	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:94722000C>T	ENST00000518322.1	+	6	581	c.440C>T	c.(439-441)gCa>gTa	p.A147V	FAM92A1_ENST00000517718.1_5'UTR|FAM92A1_ENST00000519679.1_5'UTR|FAM92A1_ENST00000423990.2_Splice_Site_p.A147V	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	147								p.A147V(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTTTTGTAGGCAGAAACGGAA	0.373																																					p.A147V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440T	8						.						55.0	50.0	52.0					8																	94722000		1822	4085	5907	94791176	SO:0001630	splice_region_variant	137392	exon5				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.439-1C>T	8.37:g.94722000C>T			94791176	NM_145269	A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Missense_Mutation	SNP	ENST00000518322.1	37	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759487	0.89932	.	.	ENSG00000188343	ENST00000523475;ENST00000518829;ENST00000518322;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.83384	2.64	0.80722	D	1	D	0.54601	0.967	P	0.58391	0.838	T	0.79424	-0.1809	10	0.87932	D	0	-8.0684	20.1731	0.98165	0.0:1.0:0.0:0.0	.	147	A1XBS5	F92A1_HUMAN	V	77;77;147;155;147;147;147;147	ENSP00000430217:A77V;ENSP00000428446:A77V;ENSP00000429367:A147V;ENSP00000428739:A155V;ENSP00000401774:A147V	ENSP00000341363:A147V	A	+	2	0	FAM92A1	94791176	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.468000	0.80943	2.768000	0.95171	0.655000	0.94253	GCA		0.373	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269	Missense_Mutation
RBM12B	389677	broad.mit.edu	37	8	94746317	94746317	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:94746317C>T	ENST00000399300.2	-	3	2535	c.2322G>A	c.(2320-2322)ccG>ccA	p.P774P	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.P654P	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	774							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P774P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCTCCGGGGGCGGGCGCCTGA	0.672																																					p.P774P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2322A	8						.						26.0	31.0	29.0					8																	94746317		1787	4029	5816	94815493	SO:0001819	synonymous_variant	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2322G>A	8.37:g.94746317C>T			94815493	NM_203390	A8MYB5	Silent	SNP	ENST00000399300.2	37	CCDS43755.1																																																																																				0.672	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
TSPYL5	85453	broad.mit.edu	37	8	98288840	98288840	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:98288840A>G	ENST00000322128.3	-	1	1336	c.1233T>C	c.(1231-1233)ccT>ccC	p.P411P		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	411					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.P411P(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGCTCACCCCAGGCTGAGTAG	0.517																																					p.P411P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1233C	8						.						205.0	205.0	205.0					8																	98288840		2203	4300	6503	98358016	SO:0001819	synonymous_variant	85453	exon1			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1233T>C	8.37:g.98288840A>G			98358016	NM_033512	B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	CCDS34927.1																																																																																				0.517	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512	
STK3	6788	broad.mit.edu	37	8	99779471	99779471	+	Splice_Site	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:99779471C>A	ENST00000419617.2	-	3	376	c.236G>T	c.(235-237)aGc>aTc	p.S79I	STK3_ENST00000523601.1_Splice_Site_p.S107I	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)	p.S79I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		CTCTTCATACCTGTCACATTG	0.313																																					p.S79I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236T	8						.						97.0	93.0	94.0					8																	99779471		1888	4152	6040	99848647	SO:0001630	splice_region_variant	6788	exon3			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.236+1G>T	8.37:g.99779471C>A			99848647	NM_006281	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288458	0.80914	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.67171	-0.25;-0.25;-0.25	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	M	0.79693	2.465	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	0.83320	-0.0018	9	.	.	.	.	19.7782	0.96405	0.0:1.0:0.0:0.0	.	79;79;107	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	I	79;107;79	ENSP00000390500:S79I;ENSP00000429744:S107I;ENSP00000428014:S79I	.	S	-	2	0	STK3	99848647	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	7.776000	0.85560	2.667000	0.90743	0.561000	0.74099	AGC		0.313	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281	Missense_Mutation
ZC3H3	23144	broad.mit.edu	37	8	144547902	144547902	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr8:144547902G>A	ENST00000262577.5	-	9	2323	c.2292C>T	c.(2290-2292)tgC>tgT	p.C764C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	764					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.C764C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACCCAGGGGGCAGTAGCCTT	0.622																																					p.C764C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2292T	8						.						105.0	90.0	95.0					8																	144547902		2203	4300	6503	144619045	SO:0001819	synonymous_variant	23144	exon9			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2292C>T	8.37:g.144547902G>A			144619045	NM_015117	Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	CCDS6402.1																																																																																				0.622	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117	
SEC61B	10952	broad.mit.edu	37	9	101992699	101992699	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:101992699G>A	ENST00000223641.4	+	4	347	c.284G>A	c.(283-285)cGt>cAt	p.R95H	SEC61B_ENST00000498603.1_Missense_Mutation_p.R41H	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit	95					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)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.R95H(1)		kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				AAGTACACTCGTTCGTAGATT	0.393																																					p.R95H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284A	9						.						243.0	223.0	230.0					9																	101992699		2203	4299	6502	101032520	SO:0001583	missense	10952	exon4			L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.284G>A	9.37:g.101992699G>A	ENSP00000223641:p.Arg95His		101032520	NM_006808	P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	CCDS6741.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469134	0.96274	.	.	ENSG00000106803	ENST00000223641	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.84535	0.0635	8	0.87932	D	0	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	95	P60468	SC61B_HUMAN	H	95	.	ENSP00000223641:R95H	R	+	2	0	SEC61B	101032520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.242000	0.95408	2.767000	0.95098	0.650000	0.86243	CGT		0.393	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808	
TMEM246	84302	broad.mit.edu	37	9	104238701	104238701	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:104238701T>A	ENST00000374851.1	-	4	1821	c.674A>T	c.(673-675)gAg>gTg	p.E225V	TMEM246_ENST00000374848.3_Missense_Mutation_p.E225V|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.E225V|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	225						integral component of membrane (GO:0016021)		p.E225V(1)									CAGAAGGTGCTCCAAGACTGG	0.532																																					p.E225V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A674T	9						.						81.0	72.0	75.0					9																	104238701		2203	4300	6503	103278522	SO:0001583	missense	84302	exon2			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.674A>T	9.37:g.104238701T>A	ENSP00000363984:p.Glu225Val		103278522	NM_032342	Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407668	0.25378	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.69	4.35	0.52113	.	0.410491	0.26518	N	0.023922	T	0.21427	0.0516	N	0.08118	0	0.30998	N	0.720601	B	0.25169	0.119	B	0.26416	0.069	T	0.08889	-1.0700	9	0.44086	T	0.13	-19.0973	6.6837	0.23134	0.1401:0.083:0.0:0.7768	.	225	Q9BRR3	CI125_HUMAN	V	225	.	ENSP00000363980:E225V	E	-	2	0	C9orf125	103278522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.172000	0.50832	2.177000	0.69029	0.455000	0.32223	GAG		0.532	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342	
KIAA1958	158405	broad.mit.edu	37	9	115422242	115422242	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:115422242G>A	ENST00000337530.6	+	4	2340	c.2044G>A	c.(2044-2046)Gtc>Atc	p.V682I	KIAA1958_ENST00000536272.1_Missense_Mutation_p.V710I	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	682								p.V682I(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCGGGGAATTGTCCCAAACTT	0.567																																					p.V682I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2044A	9						.						81.0	74.0	76.0					9																	115422242		2203	4300	6503	114462063	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.2044G>A	9.37:g.115422242G>A	ENSP00000336940:p.Val682Ile		114462063	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829832	0.71258	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.62732	0.2452	N	0.19112	0.55	0.40487	D	0.980507	D;P	0.69078	0.997;0.887	D;P	0.80764	0.994;0.798	T	0.65265	-0.6210	8	0.52906	T	0.07	.	14.5181	0.67833	0.0716:0.0:0.9284:0.0	.	710;682	B7ZKW6;Q8N8K9	.;K1958_HUMAN	I	682;710	.	ENSP00000336940:V682I	V	+	1	0	KIAA1958	114462063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.025000	0.49681	2.811000	0.96726	0.655000	0.94253	GTC		0.567	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
POLE3	54107	broad.mit.edu	37	9	116171960	116171960	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:116171960A>G	ENST00000374171.4	-	4	371	c.201T>C	c.(199-201)agT>agC	p.S67S	C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000479871.1_5'UTR|C9orf43_ENST00000288462.4_5'Flank|POLE3_ENST00000374169.3_Silent_p.S67S	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	67					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)	p.S67S(1)		large_intestine(2)|lung(1)	3					Cladribine(DB00242)	AGAGCACATCACTGGCATTCA	0.483																																					p.S67S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T201C	9						.						125.0	108.0	114.0					9																	116171960		2203	4300	6503	115211781	SO:0001819	synonymous_variant	54107	exon4			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.201T>C	9.37:g.116171960A>G			115211781	NM_017443	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	Silent	SNP	ENST00000374171.4	37	CCDS6795.1																																																																																				0.483	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053730.1	NM_017443	
TNC	3371	broad.mit.edu	37	9	117849230	117849230	+	Silent	SNP	G	G	A	rs376159349		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:117849230G>A	ENST00000350763.4	-	3	1191	c.780C>T	c.(778-780)caC>caT	p.H260H	TNC_ENST00000341037.4_Silent_p.H260H|TNC_ENST00000346706.3_Silent_p.H260H|TNC_ENST00000340094.3_Silent_p.H260H|TNC_ENST00000535648.1_Silent_p.H260H|TNC_ENST00000423613.2_Silent_p.H260H|TNC_ENST00000542877.1_Silent_p.H260H|TNC_ENST00000345230.3_Silent_p.H260H|TNC_ENST00000537320.1_Silent_p.H260H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	260	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.H260H(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACATGTGCCGTGCTCCTCAC	0.557																																					p.H260H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C780T	9						.	G		1,4405	2.1+/-5.4	0,1,2202	129.0	100.0	110.0		780	-0.0	1.0	9		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNC	NM_002160.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		260/2202	117849230	2,13004	2203	4300	6503	116889051	SO:0001819	synonymous_variant	3371	exon3				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.780C>T	9.37:g.117849230G>A			116889051	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																				0.557	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
PAPPA	5069	broad.mit.edu	37	9	119097183	119097183	+	Silent	SNP	T	T	A	rs144004756		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:119097183T>A	ENST00000328252.3	+	13	3810	c.3441T>A	c.(3439-3441)ccT>ccA	p.P1147P	PAPPA_ENST00000534838.1_Silent_p.P185P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1147					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P1147P(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGATTATCCCTGTGGTCCATG	0.627																																					p.P1147P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3441A	9						.						85.0	69.0	74.0					9																	119097183		2203	4300	6503	118137004	SO:0001819	synonymous_variant	5069	exon13				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3441T>A	9.37:g.119097183T>A			118137004	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1																																																																																				0.627	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
ASTN2	23245	broad.mit.edu	37	9	119203022	119203022	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:119203022C>A	ENST00000313400.4	-	22	3748	c.3648G>T	c.(3646-3648)aaG>aaT	p.K1216N	ASTN2_ENST00000341734.4_Missense_Mutation_p.K268N|ASTN2_ENST00000361477.3_Missense_Mutation_p.K268N|ASTN2_ENST00000288520.5_Missense_Mutation_p.K317N|ASTN2_ENST00000373996.3_Missense_Mutation_p.K1212N|ASTN2_ENST00000361209.2_Missense_Mutation_p.K1165N			O75129	ASTN2_HUMAN	astrotactin 2	1216					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.K1165N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTGCTGCTCCTTTCCACTTG	0.473																																					p.K317N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G951T	9						.						199.0	156.0	170.0					9																	119203022		2203	4300	6503	118242843	SO:0001583	missense	23245	exon7			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3648G>T	9.37:g.119203022C>A	ENSP00000314038:p.Lys1216Asn		118242843	NM_198186	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	De_novo_Start_OutOfFrame	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	17.29	3.351439	0.61183	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.19806	2.54;2.54;2.12;2.14;2.36;2.58;2.14	5.91	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	L	0.34521	1.04	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.83275	0.991;0.994;0.996;0.991;0.994;0.994;0.994	T	0.03818	-1.1001	10	0.72032	D	0.01	-31.3083	9.5887	0.39532	0.0:0.7908:0.0:0.2092	.	268;268;1165;1216;1212;268;317	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	N	1216;1212;317;268;939;1165;268	ENSP00000314038:K1216N;ENSP00000363108:K1212N;ENSP00000288520:K317N;ENSP00000339925:K268N;ENSP00000363098:K939N;ENSP00000354504:K1165N;ENSP00000355116:K268N	ENSP00000288520:K317N	K	-	3	2	ASTN2	118242843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.043000	0.30316	0.850000	0.35239	0.655000	0.94253	AAG		0.473	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
TRIM32	22954	broad.mit.edu	37	9	119460703	119460703	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:119460703C>T	ENST00000450136.1	+	2	843	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.L228F|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	228					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L228F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GAGTTACCTGCTTAACATTGC	0.522																																					p.L228F	Esophageal Squamous(92;212 1916 19711 26951)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682T	9						.						76.0	68.0	71.0					9																	119460703		2203	4300	6503	118500524	SO:0001583	missense	22954	exon2			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.682C>T	9.37:g.119460703C>T	ENSP00000408292:p.Leu228Phe		118500524	NM_001099679	Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318843	0.60524	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.83419	-1.72;-1.72	5.36	4.46	0.54185	.	0.000000	0.64402	D	0.000008	D	0.84642	0.5517	L	0.29908	0.895	0.58432	D	0.999992	D	0.71674	0.998	D	0.80764	0.994	T	0.83003	-0.0176	9	.	.	.	-12.0258	13.4479	0.61151	0.0:0.9248:0.0:0.0752	.	228	Q13049	TRI32_HUMAN	F	228	ENSP00000408292:L228F;ENSP00000363095:L228F	.	L	+	1	0	TRIM32	118500524	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.684000	0.68197	2.486000	0.83907	0.655000	0.94253	CTT		0.522	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210	
ASTN2	23245	broad.mit.edu	37	9	119739057	119739057	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:119739057G>A	ENST00000313400.4	-	8	1699	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	ASTN2_ENST00000373996.3_Silent_p.C533C|ASTN2_ENST00000361209.2_Silent_p.C482C|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	533	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.C482C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATGACAGCTGCACTCTCCTG	0.468																																					p.C482C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1446T	9						.						93.0	75.0	81.0					9																	119739057		2203	4300	6503	118778878	SO:0001819	synonymous_variant	23245	exon7			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1599C>T	9.37:g.119739057G>A			118778878	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																					0.468	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
BRINP1	1620	broad.mit.edu	37	9	121930048	121930048	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:121930048G>A	ENST00000265922.3	-	8	2061	c.1600C>T	c.(1600-1602)Cgc>Tgc	p.R534C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	534					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R534C(1)									AAGTCCATGCGGTTCTTGTTG	0.557																																					p.R534C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1600T	9						.						124.0	97.0	106.0					9																	121930048		2203	4300	6503	120969869	SO:0001583	missense	1620	exon8			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1600C>T	9.37:g.121930048G>A	ENSP00000265922:p.Arg534Cys		120969869	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556368	0.65425	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15603	2.41	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.01492	-1.1341	10	0.87932	D	0	-22.2179	16.2226	0.82267	0.0:0.0:0.8667:0.1333	.	534	O60477	DBC1_HUMAN	C	534	ENSP00000265922:R534C	ENSP00000265922:R534C	R	-	1	0	DBC1	120969869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.229000	0.51278	2.702000	0.92279	0.655000	0.94253	CGC		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
C5	727	broad.mit.edu	37	9	123731377	123731377	+	Silent	SNP	G	G	A	rs142157475		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:123731377G>A	ENST00000223642.1	-	33	4211	c.4182C>T	c.(4180-4182)taC>taT	p.Y1394Y		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1394					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Y1394Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CAGAGTTTCCGTAGCCTCTGT	0.413																																					p.Y1394Y												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C4182T	9						.	G		1,4405	2.1+/-5.4	0,1,2202	138.0	127.0	131.0		4182	1.3	0.0	9	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C5	NM_001735.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1394/1677	123731377	3,13003	2203	4300	6503	122771198	SO:0001819	synonymous_variant	727	exon33			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4182C>T	9.37:g.123731377G>A			122771198	NM_001735	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	CCDS6826.1																																																																																				0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
CNTRL	11064	broad.mit.edu	37	9	123903765	123903765	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:123903765A>G	ENST00000373855.1	+	18	2850	c.2590A>G	c.(2590-2592)Aga>Gga	p.R864G	CNTRL_ENST00000373850.1_Missense_Mutation_p.R312G|CNTRL_ENST00000238341.5_Missense_Mutation_p.R864G|CNTRL_ENST00000373847.1_Missense_Mutation_p.R312G			Q7Z7A1	CNTRL_HUMAN	centriolin	864					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R864G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCACAAGTTAGAGAGAGAAA	0.453																																					p.R864G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2590G	9						.						77.0	77.0	77.0					9																	123903765		2203	4300	6503	122943586	SO:0001583	missense	11064	exon16			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2590A>G	9.37:g.123903765A>G	ENSP00000362962:p.Arg864Gly		122943586	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818886	0.50633	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.76	5.76	0.90799	.	.	.	.	.	T	0.41858	0.1177	L	0.32530	0.975	0.37822	D	0.928418	B;B;B	0.27559	0.067;0.181;0.114	B;B;B	0.26864	0.018;0.074;0.034	T	0.44937	-0.9295	9	0.44086	T	0.13	.	11.1806	0.48625	0.9264:0.0:0.0736:0.0	.	864;864;864	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	G	864;864;864;346;312;312	ENSP00000362962:R864G;ENSP00000238341:R864G;ENSP00000362956:R312G;ENSP00000362953:R312G	ENSP00000238341:R864G	R	+	1	2	CNTRL	122943586	1.000000	0.71417	0.973000	0.42090	0.938000	0.57974	4.783000	0.62403	2.195000	0.70347	0.533000	0.62120	AGA		0.453	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
OR1L6	392390	broad.mit.edu	37	9	125512485	125512485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:125512485C>T	ENST00000373684.1	+	1	467	c.467C>T	c.(466-468)gCc>gTc	p.A156V	OR1L6_ENST00000304720.2_Missense_Mutation_p.A120V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A156V(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCCTCTATGGCCATCGACCGG	0.517																																					p.A120V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C359T	9						.						109.0	93.0	99.0					9																	125512485		2203	4298	6501	124552306	SO:0001583	missense	392390	exon1				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.467C>T	9.37:g.125512485C>T	ENSP00000362788:p.Ala156Val		124552306	NM_001004453	Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37		.	.	.	.	.	.	.	.	.	.	.	28.7	4.941544	0.92526	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.13420	2.59;2.59	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.40645	0.1125	M	0.81942	2.565	0.53005	D	0.999967	D	0.76494	0.999	D	0.79784	0.993	T	0.39683	-0.9602	10	0.87932	D	0	-26.7787	16.7211	0.85410	0.0:1.0:0.0:0.0	.	156	Q8NGR2	OR1L6_HUMAN	V	156;120	ENSP00000362788:A156V;ENSP00000304235:A120V	ENSP00000304235:A120V	A	+	2	0	OR1L6	124552306	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.559000	0.60796	2.557000	0.86248	0.655000	0.94253	GCC		0.517	OR1L6-201	KNOWN	basic	protein_coding	protein_coding			
NR6A1	2649	broad.mit.edu	37	9	127316757	127316757	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:127316757C>A	ENST00000487099.2	-	3	392	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	NR6A1_ENST00000416460.2_Missense_Mutation_p.G75C|NR6A1_ENST00000373584.3_Missense_Mutation_p.G75C|NR6A1_ENST00000344523.4_Missense_Mutation_p.G79C	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	79					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G79C(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCTTTGCAGCCCTCACAGGAG	0.498																																					p.G79C	Esophageal Squamous(192;272 2884 6208 20560)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235T	9						.						118.0	108.0	111.0					9																	127316757		2203	4300	6503	126356578	SO:0001583	missense	2649	exon3			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.235G>T	9.37:g.127316757C>A	ENSP00000420267:p.Gly79Cys		126356578	NM_033334	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053307	0.93793	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3;-4.3	5.66	5.66	0.87406	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.97829	4.085	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	0.99004	1.0812	10	0.87932	D	0	.	18.751	0.91814	0.0:1.0:0.0:0.0	.	75;79;75	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	C	79;75;75;79;37	ENSP00000420267:G79C;ENSP00000362686:G75C;ENSP00000413701:G75C;ENSP00000341135:G79C;ENSP00000420587:G37C	ENSP00000341135:G79C	G	-	1	0	NR6A1	126356578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.653000	0.90120	0.563000	0.77884	GGC		0.498	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		
SH2D3C	10044	broad.mit.edu	37	9	130506881	130506881	+	Silent	SNP	G	G	T	rs142604139	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:130506881G>T	ENST00000314830.8	-	7	1875	c.1762C>A	c.(1762-1764)Cgg>Agg	p.R588R	SH2D3C_ENST00000420366.1_Silent_p.R430R|SH2D3C_ENST00000373274.3_Silent_p.R428R|SH2D3C_ENST00000429553.1_Silent_p.R234R|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.R431R|SH2D3C_ENST00000373276.3_Silent_p.R520R	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	588	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.R588R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCAGCGTCCGGGCATCCACT	0.642																																					p.R234R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C700A	9						.						66.0	68.0	67.0					9																	130506881		2203	4300	6503	129546702	SO:0001819	synonymous_variant	10044	exon6			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1762C>A	9.37:g.130506881G>T			129546702	NM_001142532	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	CCDS6877.1																																																																																				0.642	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
PRRC2B	84726	broad.mit.edu	37	9	134351580	134351580	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:134351580G>A	ENST00000357304.4	+	15	4119	c.4064G>A	c.(4063-4065)gGc>gAc	p.G1355D	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1355							poly(A) RNA binding (GO:0044822)	p.G1355D(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGCACTGTGGGCCGCAGGTCC	0.662											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G1355D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4064A	9						.						24.0	29.0	27.0					9																	134351580		1985	4152	6137	133341401	SO:0001583	missense	84726	exon15			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4064G>A	9.37:g.134351580G>A	ENSP00000349856:p.Gly1355Asp	1610	133341401	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543715	0.65198	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.02944	4.1	5.41	5.41	0.78517	.	.	.	.	.	T	0.12390	0.0301	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.99;0.957	T	0.00675	-1.1615	9	0.38643	T	0.18	.	11.6283	0.51158	0.0812:0.0:0.9188:0.0	.	651;88;1355	Q5H9R5;Q5JSZ8;Q5JSZ5	.;.;PRC2B_HUMAN	D	1355;651	ENSP00000349856:G1355D	ENSP00000349856:G1355D	G	+	2	0	PRRC2B	133341401	1.000000	0.71417	0.584000	0.28653	0.782000	0.44232	3.484000	0.53201	2.533000	0.85409	0.655000	0.94253	GGC		0.662	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
POMT1	10585	broad.mit.edu	37	9	134379710	134379710	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:134379710C>A	ENST00000372228.3	+	2	284	c.105C>A	c.(103-105)acC>acA	p.T35T	POMT1_ENST00000341012.7_Intron|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000423007.1_Silent_p.T35T|POMT1_ENST00000354713.4_Silent_p.T35T|POMT1_ENST00000402686.3_Silent_p.T35T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	35					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.T35T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GGCGACTCACCTACCCGCGGG	0.537											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T35T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C105A	9						.						122.0	104.0	110.0					9																	134379710		2203	4300	6503	133369531	SO:0001819	synonymous_variant	10585	exon2			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.105C>A	9.37:g.134379710C>A		1610	133369531	NM_007171	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	CCDS6943.1																																																																																				0.537	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171	
C9orf171	389799	broad.mit.edu	37	9	135374839	135374839	+	Missense_Mutation	SNP	G	G	A	rs150368747		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:135374839G>A	ENST00000343036.2	+	4	532	c.484G>A	c.(484-486)Ggg>Agg	p.G162R	C9orf171_ENST00000393215.3_Missense_Mutation_p.G126R|C9orf171_ENST00000393216.2_Missense_Mutation_p.G126R	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	162								p.G162R(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AATGAACCGCGGGGCGGTGAA	0.612																																					p.G162R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G484A	9						.	G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	74.0	75.0	74.0		484	3.3	0.8	9	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	missense	C9orf171	NM_207417.1	125	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	162/321	135374839	3,13003	2203	4300	6503	134364660	SO:0001583	missense	389799	exon4			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.484G>A	9.37:g.135374839G>A	ENSP00000343290:p.Gly162Arg		134364660	NM_207417	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402748	0.42613	2.27E-4	2.33E-4	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.20881	2.04;2.04;2.04	5.26	3.32	0.38043	.	0.310015	0.30547	N	0.009388	T	0.16085	0.0387	L	0.46157	1.445	0.26405	N	0.976362	P;D	0.54207	0.591;0.965	B;B	0.39503	0.147;0.301	T	0.12372	-1.0550	10	0.33141	T	0.24	.	9.2882	0.37771	0.08:0.1829:0.7371:0.0	.	126;162	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	R	126;162;126	ENSP00000376908:G126R;ENSP00000343290:G162R;ENSP00000376909:G126R	ENSP00000343290:G162R	G	+	1	0	C9orf171	134364660	0.959000	0.32827	0.809000	0.32408	0.037000	0.13140	1.778000	0.38614	1.242000	0.43836	0.561000	0.74099	GGG		0.612	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	
BARHL1	56751	broad.mit.edu	37	9	135458514	135458514	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:135458514C>A	ENST00000263610.2	+	1	943	c.330C>A	c.(328-330)gcC>gcA	p.A110A	BARHL1_ENST00000542090.1_Silent_p.A110A	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	110					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	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)	p.A110A(1)		cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CACTCGCGGCCTGTGCACCCT	0.667																																					p.A110A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C330A	9						.						59.0	71.0	67.0					9																	135458514		2202	4298	6500	134448335	SO:0001819	synonymous_variant	56751	exon1			AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.330C>A	9.37:g.135458514C>A			134448335	NM_020064	Q5T6V2|Q9NY88	Silent	SNP	ENST00000263610.2	37	CCDS6950.1																																																																																				0.667	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2		
DDX31	64794	broad.mit.edu	37	9	135493771	135493771	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:135493771C>A	ENST00000372159.3	-	18	2237	c.2086G>T	c.(2086-2088)Gta>Tta	p.V696L	DDX31_ENST00000372153.1_Intron|DDX31_ENST00000438527.3_Missense_Mutation_p.V567L	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	696						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V696L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTTCAAATACCGTCTGCAAG	0.537																																					p.V696L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2086T	9						.						125.0	105.0	112.0					9																	135493771		2203	4300	6503	134483592	SO:0001583	missense	64794	exon18			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2086G>T	9.37:g.135493771C>A	ENSP00000361232:p.Val696Leu		134483592	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292190	0.23564	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	T;T	0.02258	4.41;4.37	5.81	1.88	0.25563	.	1.049060	0.07390	N	0.888879	T	0.01287	0.0042	N	0.02916	-0.46	0.18873	N	0.999983	B	0.11235	0.004	B	0.13407	0.009	T	0.49899	-0.8890	10	0.26408	T	0.33	-4.4419	6.1801	0.20465	0.0:0.393:0.3892:0.2178	.	696	Q9H8H2	DDX31_HUMAN	L	696;696;567	ENSP00000361232:V696L;ENSP00000387730:V567L	ENSP00000361228:V696L	V	-	1	0	DDX31	134483592	0.008000	0.16893	0.722000	0.30670	0.924000	0.55760	0.701000	0.25616	0.086000	0.17137	-0.218000	0.12543	GTA		0.537	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
RALGDS	5900	broad.mit.edu	37	9	135979680	135979680	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:135979680G>A	ENST00000372050.3	-	10	1662	c.1641C>T	c.(1639-1641)ccC>ccT	p.P547P	RALGDS_ENST00000372047.3_Silent_p.P535P|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Silent_p.P618P|RALGDS_ENST00000393157.3_Silent_p.P546P|RALGDS_ENST00000393160.3_Silent_p.P492P|RALGDS_ENST00000372062.3_Silent_p.P518P	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	547	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)	p.P547P(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGGCTCTCTTGGGGTTCATCT	0.667			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																p.P547P	Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1641T	9						.						89.0	81.0	83.0					9																	135979680		2203	4300	6503	134969501	SO:0001819	synonymous_variant	5900	exon10			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1641C>T	9.37:g.135979680G>A			134969501	NM_006266	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	CCDS6959.1																																																																																				0.667	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	
COL5A1	1289	broad.mit.edu	37	9	137622201	137622201	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:137622201G>A	ENST00000371817.3	+	7	1458	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	348	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.T348T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTACTACACGCCCTCACCGT	0.632																																					p.T348T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1044A	9						.						126.0	114.0	118.0					9																	137622201		2203	4300	6503	136762022	SO:0001819	synonymous_variant	1289	exon7			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1044G>A	9.37:g.137622201G>A			136762022	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
COL5A1	1289	broad.mit.edu	37	9	137710579	137710579	+	Silent	SNP	G	G	A	rs200073020	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:137710579G>A	ENST00000371817.3	+	55	4722	c.4308G>A	c.(4306-4308)ccG>ccA	p.P1436P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1436	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P1436P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCCGGACCGGATGGCCTTC	0.697													g|||	3	0.000599042	0.0015	0.0	5008	,	,		13123	0.001		0.0	False		,,,				2504	0.0				p.P1436P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4308A	9						.	A		1,4399		0,1,2199	15.0	18.0	17.0		4308	-9.4	0.0	9		17	1,8595		0,1,4297	no	coding-synonymous	COL5A1	NM_000093.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		1436/1839	137710579	2,12994	2200	4298	6498	136850400	SO:0001819	synonymous_variant	1289	exon55			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4308G>A	9.37:g.137710579G>A			136850400	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.697	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667																																					p.L10L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.T30C	9						.																																			137553194	SO:0001819	synonymous_variant	3933	exon1				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.30T>C	9.37:g.138413373T>C			137553194	NM_002297	Q5T8A1	Silent	SNP	ENST00000263598.2	37	CCDS6991.1																																																																																				0.667	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297	
NELFB	25920	broad.mit.edu	37	9	140166585	140166585	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:140166585G>A	ENST00000343053.4	+	11	1735	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	466					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T466T(1)									ACCTGCTCACGGGCAACCTTG	0.612																																					p.T466T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1398A	9						.						172.0	137.0	149.0					9																	140166585		2203	4300	6503	139286406	SO:0001819	synonymous_variant	25920	exon11			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1398G>A	9.37:g.140166585G>A			139286406	NM_015456	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	CCDS7040.1																																																																																				0.612	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456	
SLC1A1	6505	broad.mit.edu	37	9	4561502	4561502	+	Missense_Mutation	SNP	G	G	A	rs572265548		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:4561502G>A	ENST00000262352.3	+	3	522	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	SLC1A1_ENST00000490167.1_3'UTR	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	96				V -> L (in Ref. 2; AAA53215). {ECO:0000305}.	D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V96M(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GCGCGCTGTCGTGTATTATTT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20303	0.0		0.0	False		,,,				2504	0.0				p.V96M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	9						.						331.0	311.0	318.0					9																	4561502		2203	4300	6503	4551502	SO:0001583	missense	6505	exon3				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.286G>A	9.37:g.4561502G>A	ENSP00000262352:p.Val96Met		4551502	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794388	0.31777	.	.	ENSG00000106688	ENST00000262352	T	0.60920	0.15	5.67	0.395	0.16304	.	0.505033	0.22944	N	0.053757	T	0.57533	0.2060	M	0.87038	2.855	0.09310	N	0.999997	B	0.33612	0.419	B	0.38428	0.273	T	0.54912	-0.8222	10	0.51188	T	0.08	.	3.0602	0.06197	0.1916:0.218:0.4782:0.1121	.	96	P43005	EAA3_HUMAN	M	96	ENSP00000262352:V96M	ENSP00000262352:V96M	V	+	1	0	SLC1A1	4551502	0.067000	0.21026	0.001000	0.08648	0.383000	0.30230	0.452000	0.21795	-0.190000	0.10465	-0.253000	0.11424	GTG		0.363	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
RCL1	10171	broad.mit.edu	37	9	4826944	4826944	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:4826944C>A	ENST00000381750.4	+	3	518	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	RCL1_ENST00000381732.3_Missense_Mutation_p.L99M	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	99					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)	p.L99M(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TGGGTATTACCTGGAGAGTCT	0.448																																					p.L99M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C295A	9						.						216.0	205.0	208.0					9																	4826944		2203	4300	6503	4816944	SO:0001583	missense	10171	exon3			AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.295C>A	9.37:g.4826944C>A	ENSP00000371169:p.Leu99Met		4816944	NM_005772	D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750796	0.69533	.	.	ENSG00000120158	ENST00000381750;ENST00000381732	.	.	.	5.92	4.09	0.47781	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.063919	0.64402	N	0.000005	T	0.80576	0.4649	M	0.92317	3.295	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	T	0.80799	-0.1221	9	0.66056	D	0.02	-13.9487	7.1891	0.25816	0.0:0.6398:0.0:0.3602	.	99	Q9Y2P8	RCL1_HUMAN	M	99	.	ENSP00000371151:L99M	L	+	1	2	RCL1	4816944	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.893000	0.48633	0.859000	0.35456	0.650000	0.86243	CTG		0.448	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772	
ERMP1	79956	broad.mit.edu	37	9	5830927	5830927	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:5830927A>G	ENST00000339450.5	-	2	529	c.440T>C	c.(439-441)aTt>aCt	p.I147T	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	147						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.I147T(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TTGCACTTCAATCAGTTTAAT	0.408																																					p.I147T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T440C	9						.						126.0	121.0	123.0					9																	5830927		2203	4300	6503	5820927	SO:0001583	missense	79956	exon2			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.440T>C	9.37:g.5830927A>G	ENSP00000340427:p.Ile147Thr		5820927	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408111	0.83340	.	.	ENSG00000099219	ENST00000339450	T	0.55760	0.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.75216	-0.3396	10	0.87932	D	0	-18.4985	15.9204	0.79562	1.0:0.0:0.0:0.0	.	147;147	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	T	147	ENSP00000340427:I147T	ENSP00000340427:I147T	I	-	2	0	ERMP1	5820927	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	8.962000	0.93254	2.174000	0.68829	0.533000	0.62120	ATT		0.408	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
IFNB1	3456	broad.mit.edu	37	9	21077312	21077312	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:21077312C>T	ENST00000380232.2	-	1	631	c.557G>A	c.(556-558)cGa>cAa	p.R186Q		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	186					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R186Q(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TCTTCAGTTTCGGAGGTAACC	0.453																																					p.R186Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	9						.						86.0	82.0	84.0					9																	21077312		2203	4300	6503	21067312	SO:0001583	missense	3456	exon1				CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.557G>A	9.37:g.21077312C>T	ENSP00000369581:p.Arg186Gln		21067312	NM_002176	Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	C	1.766	-0.485645	0.04352	.	.	ENSG00000171855	ENST00000380232	T	0.04156	3.69	5.64	0.638	0.17742	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.990981	0.08217	N	0.979796	T	0.04048	0.0113	L	0.31120	0.905	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.44190	-0.9344	10	0.48119	T	0.1	1.5865	4.8034	0.13308	0.0:0.2504:0.1902:0.5593	.	186	P01574	IFNB_HUMAN	Q	186	ENSP00000369581:R186Q	ENSP00000369581:R186Q	R	-	2	0	IFNB1	21067312	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.011000	0.13264	-0.053000	0.13289	-0.312000	0.09012	CGA		0.453	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176	
IFNA4	3441	broad.mit.edu	37	9	21187406	21187406	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:21187406G>A	ENST00000421715.1	-	1	192	c.125C>T	c.(124-126)gCa>gTa	p.A42V		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	42					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.A42V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCCATTTGTGCCAGGAGTAT	0.527																																					p.A42V	NSCLC(154;890 1986 23660 27800 51138)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C125T	9						.						66.0	68.0	67.0					9																	21187406		2203	4297	6500	21177406	SO:0001583	missense	3441	exon1				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.125C>T	9.37:g.21187406G>A	ENSP00000412897:p.Ala42Val		21177406	NM_021068	P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	12.40	1.928133	0.34002	.	.	ENSG00000236637	ENST00000421715	T	0.05855	3.38	2.96	-0.327	0.12694	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.761996	0.12212	N	0.489217	T	0.05777	0.0151	L	0.41356	1.27	0.20196	N	0.999926	B	0.09022	0.002	B	0.16722	0.016	T	0.36407	-0.9749	10	0.39692	T	0.17	.	7.4808	0.27404	0.0:0.2404:0.6315:0.128	.	42	P05014	IFNA4_HUMAN	V	42	ENSP00000412897:A42V	ENSP00000412897:A42V	A	-	2	0	IFNA4	21177406	0.000000	0.05858	0.994000	0.49952	0.367000	0.29736	-2.206000	0.01231	0.060000	0.16281	0.485000	0.47835	GCA		0.527	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068	
UNC13B	10497	broad.mit.edu	37	9	35375189	35375189	+	Silent	SNP	C	C	T	rs368947711		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:35375189C>T	ENST00000378495.3	+	13	1581	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	UNC13B_ENST00000396787.1_Silent_p.D465D|UNC13B_ENST00000378496.4_Silent_p.D453D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	453					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.D453D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTTAAGGACGAAGAGCTGG	0.498																																					p.D453D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1359T	9						.	C		1,4405	2.1+/-5.4	0,1,2202	212.0	185.0	194.0		1359	2.3	1.0	9		194	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC13B	NM_006377.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		453/1592	35375189	2,13004	2203	4300	6503	35365189	SO:0001819	synonymous_variant	10497	exon13			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1359C>T	9.37:g.35375189C>T			35365189	NM_006377	Q5VYM8	Silent	SNP	ENST00000378495.3	37	CCDS6579.1																																																																																				0.498	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
RUSC2	9853	broad.mit.edu	37	9	35558361	35558361	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:35558361A>G	ENST00000455600.1	+	7	3797	c.3228A>G	c.(3226-3228)acA>acG	p.T1076T		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1076	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.T1076T(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCTTCCACACAGCTAGGTA	0.597																																					p.T1076T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3228G	9						.						90.0	88.0	88.0					9																	35558361		2203	4300	6503	35548361	SO:0001819	synonymous_variant	9853	exon7			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3228A>G	9.37:g.35558361A>G			35548361	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	CCDS35008.1																																																																																				0.597	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
ARHGEF39	84904	broad.mit.edu	37	9	35662255	35662255	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:35662255G>T	ENST00000378387.3	-	8	1030	c.913C>A	c.(913-915)Cct>Act	p.P305T	ARHGEF39_ENST00000343259.3_Missense_Mutation_p.P185H|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P269T	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	305	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P185H(1)									TTCTCATGAGGGAAGGACAGC	0.527																																					p.P305T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C913A	9						.						110.0	96.0	100.0					9																	35662255		2203	4300	6503	35652255	SO:0001583	missense	84904	exon8			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.913C>A	9.37:g.35662255G>T	ENSP00000367638:p.Pro305Thr		35652255	NM_032818	Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	CCDS6584.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195531|4.195531	0.78902|0.78902	.|.	.|.	ENSG00000137135|ENSG00000137135	ENST00000343259|ENST00000378387;ENST00000378395	T|T;T	0.23147|0.42131	1.92|0.98;0.98	5.97|5.97	5.97|5.97	0.96955|0.96955	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|.	.|.	.|.	.|.	T|T	0.57814|0.57814	0.2079|0.2079	L|L	0.47716|0.47716	1.5|1.5	0.23598|0.23598	N|N	0.997321|0.997321	.|D	.|0.76494	.|0.999	.|D	.|0.72338	.|0.977	T|T	0.50642|0.50642	-0.8804|-0.8804	7|9	0.48119|0.32370	T|T	0.1|0.25	-26.5422|-26.5422	15.9281|15.9281	0.79635|0.79635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|305	.|Q8N4T4	.|CI100_HUMAN	H|T	185|305;269	ENSP00000344922:P185H|ENSP00000367638:P305T;ENSP00000367648:P269T	ENSP00000344922:P185H|ENSP00000367638:P305T	P|P	-|-	2|1	0|0	C9orf100|C9orf100	35652255|35652255	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.758000|4.758000	0.62220|0.62220	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.527	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818	
FBXO10	26267	broad.mit.edu	37	9	37516069	37516069	+	Missense_Mutation	SNP	C	C	T	rs182563461		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:37516069C>T	ENST00000432825.2	-	10	2576	c.2528G>A	c.(2527-2529)cGg>cAg	p.R843Q	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R368Q	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	843					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R849Q(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CGAGTGGATCCGGTTCTTTAT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19143	0.0		0.001	False		,,,				2504	0.0				p.R843Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2528A	9						.						73.0	65.0	67.0					9																	37516069		1899	4105	6004	37506069	SO:0001583	missense	26267	exon10			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2528G>A	9.37:g.37516069C>T	ENSP00000403802:p.Arg843Gln		37506069	NM_012166	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	CCDS47966.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.635187	0.96682	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80566	-1.39;-1.39	5.43	5.43	0.79202	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.85988	0.1487	10	0.56958	D	0.05	-25.5257	17.9996	0.89195	0.0:1.0:0.0:0.0	.	722;368;843	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	Q	843;368	ENSP00000403802:R843Q;ENSP00000441307:R368Q	ENSP00000403802:R843Q	R	-	2	0	FBXO10	37506069	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.386000	0.73186	2.552000	0.86080	0.511000	0.50034	CGG		0.547	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		
ANKRD20A1	84210	broad.mit.edu	37	9	67968285	67968285	+	Missense_Mutation	SNP	C	C	G	rs201264629		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:67968285C>G	ENST00000377477.2	+	15	1956	c.1844C>G	c.(1843-1845)gCt>gGt	p.A615G	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	615						plasma membrane (GO:0005886)		p.A615G(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AGACTGGCTGCTGCTATAAGC	0.388																																					p.A615G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1844G	9						.																																			67558105	SO:0001583	missense	441425	exon15			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.1844C>G	9.37:g.67968285C>G	ENSP00000366697:p.Ala615Gly		67558105	NM_001012419	Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	8.954	0.968897	0.18659	.	.	ENSG00000196774	ENST00000377477	T	0.19105	2.17	1.88	1.88	0.25563	.	.	.	.	.	T	0.23370	0.0565	M	0.78456	2.415	0.09310	N	1	B	0.32409	0.37	B	0.23716	0.048	T	0.16719	-1.0393	9	0.62326	D	0.03	.	9.5031	0.39031	0.0:1.0:0.0:0.0	.	615	Q5TYW2	A20A1_HUMAN	G	615	ENSP00000366697:A615G	ENSP00000366697:A615G	A	+	2	0	ANKRD20A1	67558105	0.388000	0.25197	0.022000	0.16811	0.005000	0.04900	2.728000	0.47319	1.071000	0.40834	0.109000	0.15622	GCT		0.388	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1		
PRUNE2	158471	broad.mit.edu	37	9	79320409	79320409	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:79320409G>A	ENST00000376718.3	-	8	6904	c.6781C>T	c.(6781-6783)Cct>Tct	p.P2261S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P1902S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2261					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.P2261S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTGCACCAGGCTGACTTTCA	0.448																																					p.P2261S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6781T	9						.						50.0	47.0	48.0					9																	79320409		1568	3582	5150	78510229	SO:0001583	missense	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6781C>T	9.37:g.79320409G>A	ENSP00000365908:p.Pro2261Ser		78510229	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.769|0.769	-0.766531|-0.766531	0.02974|0.02974	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.39229	.|1.09;1.09	5.68|5.68	-3.13|-3.13	0.05266|0.05266	.|.	.|1.311530	.|0.04937	.|N	.|0.457910	T|T	0.23249|0.23249	0.0562|0.0562	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.11324|0.11324	-1.0592|-1.0592	5|10	.|0.23891	.|T	.|0.37	0.6275|0.6275	2.1812|2.1812	0.03875|0.03875	0.219:0.129:0.4059:0.2461|0.219:0.129:0.4059:0.2461	.|.	.|2261	.|Q8WUY3	.|PRUN2_HUMAN	V|S	1582|2261;1902;2260	.|ENSP00000365908:P2261S;ENSP00000397425:P1902S	.|ENSP00000365908:P2261S	A|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78510229|78510229	0.018000|0.018000	0.18449|0.18449	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.042000|-0.042000	0.12063|0.12063	-0.511000|-0.511000	0.06514|0.06514	-2.688000|-2.688000	0.00140|0.00140	GCC|CCT		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
PRUNE2	158471	broad.mit.edu	37	9	79322930	79322930	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:79322930G>A	ENST00000376718.3	-	8	4383	c.4260C>T	c.(4258-4260)tcC>tcT	p.S1420S	PRUNE2_ENST00000428286.1_Silent_p.S1061S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1420					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S1420S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTATCTGCGGACATCCCTG	0.443																																					p.S1420S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4260T	9						.						66.0	61.0	63.0					9																	79322930		1568	3582	5150	78512750	SO:0001819	synonymous_variant	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4260C>T	9.37:g.79322930G>A			78512750	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.653	-0.071084	0.07228	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.29	-2.31	0.06765	.	.	.	.	.	T	0.30759	0.0775	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33701	-0.9858	4	.	.	.	-7.8986	8.2375	0.31636	0.4877:0.1055:0.4068:0.0	.	.	.	.	C	742	.	.	R	-	1	0	PRUNE2	78512750	0.107000	0.21998	0.000000	0.03702	0.001000	0.01503	0.067000	0.14510	-0.489000	0.06716	-0.940000	0.02684	CGC		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
KIF27	55582	broad.mit.edu	37	9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	rs3199677		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:86482718G>A	ENST00000297814.2	-	13	2958	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R873C|RP11-575L7.4_ENST00000586211.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	939					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R939C(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		14448	0.0		0.001	False		,,,				2504	0.0				p.R939C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2815T	9						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	106.0	107.0		2815	4.2	1.0	9	dbSNP_105	107	0,8600		0,0,4300	no	missense	KIF27	NM_017576.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	939/1402	86482718	1,13005	2203	4300	6503	85672538	SO:0001583	missense	55582	exon13			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2815C>T	9.37:g.86482718G>A	ENSP00000297814:p.Arg939Cys		85672538	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134716	0.56828	2.27E-4	0.0	ENSG00000165115	ENST00000297814;ENST00000413982	T;T	0.35973	1.28;1.28	4.22	4.22	0.49857	.	0.332899	0.20410	U	0.092866	T	0.53061	0.1773	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.826	T	0.57568	-0.7789	10	0.72032	D	0.01	.	11.951	0.52954	0.0:0.0:0.8265:0.1735	.	873;939	Q86VH2-2;Q86VH2	.;KIF27_HUMAN	C	939;873	ENSP00000297814:R939C;ENSP00000401688:R873C	ENSP00000297814:R939C	R	-	1	0	KIF27	85672538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	2.166000	0.68216	0.484000	0.47621	CGC		0.373	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
GOLM1	51280	broad.mit.edu	37	9	88694194	88694194	+	Silent	SNP	C	C	T	rs138803272		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:88694194C>T	ENST00000388712.3	-	2	210	c.42G>A	c.(40-42)ccG>ccA	p.P14P	GOLM1_ENST00000388711.3_Silent_p.P14P|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	14					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.P14P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GCACGAGGGGCGGCGACTTCA	0.532																																					p.P14P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G42A	9						.	C	,	1,4405	2.1+/-5.4	0,1,2202	35.0	36.0	36.0		42,42	-7.8	0.2	9	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GOLM1	NM_016548.3,NM_177937.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	14/402,14/402	88694194	1,13005	2203	4300	6503	87884014	SO:0001819	synonymous_variant	51280	exon2			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.42G>A	9.37:g.88694194C>T			87884014	NM_177937	Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	CCDS35054.1																																																																																				0.532	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937	
SEMA4D	10507	broad.mit.edu	37	9	92007373	92007373	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:92007373G>T	ENST00000450295.1	-	8	1363	c.587C>A	c.(586-588)cCt>cAt	p.P196H	SEMA4D_ENST00000343780.4_Missense_Mutation_p.P196H|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P196H|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P196H|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P196H|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P196H|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P196H|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P196H			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	196	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.P196H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCCTCAGAGGACTGTGGGA	0.498																																					p.P196H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C587A	9						.						121.0	111.0	114.0					9																	92007373		2203	4300	6503	91197193	SO:0001583	missense	10507	exon10			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.587C>A	9.37:g.92007373G>T	ENSP00000416523:p.Pro196His		91197193	NM_001142287	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	8.308	0.821376	0.16678	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.92	2.86	0.33363	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.196433	0.45361	D	0.000376	T	0.22551	0.0544	L	0.52206	1.635	0.09310	N	0.999998	P;P	0.36378	0.55;0.461	B;B	0.31614	0.057;0.133	T	0.20907	-1.0261	10	0.72032	D	0.01	.	5.6561	0.17642	0.1491:0.0:0.5864:0.2645	.	196;196	Q92854-2;Q92854	.;SEM4D_HUMAN	H	196	ENSP00000344923:P196H;ENSP00000391733:P196H;ENSP00000411981:P196H;ENSP00000343418:P196H;ENSP00000416523:P196H;ENSP00000405102:P196H;ENSP00000348822:P196H;ENSP00000388768:P196H	ENSP00000344923:P196H	P	-	2	0	SEMA4D	91197193	0.974000	0.33945	0.026000	0.17262	0.009000	0.06853	2.777000	0.47717	0.787000	0.33731	0.655000	0.94253	CCT		0.498	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
SEMA4D	10507	broad.mit.edu	37	9	92017815	92017815	+	Missense_Mutation	SNP	C	C	T	rs62620228		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:92017815C>T	ENST00000450295.1	-	4	999	c.223G>A	c.(223-225)Gca>Aca	p.A75T	SEMA4D_ENST00000343780.4_Missense_Mutation_p.A75T|SEMA4D_ENST00000438547.2_Missense_Mutation_p.A75T|SEMA4D_ENST00000455551.2_Missense_Mutation_p.A75T|SEMA4D_ENST00000356444.2_Missense_Mutation_p.A75T|SEMA4D_ENST00000339861.4_Missense_Mutation_p.A75T|SEMA4D_ENST00000422704.2_Missense_Mutation_p.A75T|SEMA4D_ENST00000420987.1_Missense_Mutation_p.A75T			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	75	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.A75T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ATGTTGAGTGCGTTCACAGCG	0.582																																					p.A75T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223A	9						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	130.0	95.0	107.0		223,223	3.8	0.1	9	dbSNP_129	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEMA4D	NM_001142287.1,NM_006378.3	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	75/739,75/863	92017815	1,13005	2203	4300	6503	91207635	SO:0001583	missense	10507	exon6			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.223G>A	9.37:g.92017815C>T	ENSP00000416523:p.Ala75Thr		91207635	NM_001142287	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	8.656	0.899322	0.17686	0.0	1.16E-4	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704;ENST00000420681;ENST00000433650	T;T;T;T;T;T;T;T;T;T	0.30182	2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84;1.54	4.78	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.152639	0.29431	N	0.012167	T	0.19604	0.0471	L	0.33189	0.99	0.09310	N	1	B;B	0.27559	0.181;0.006	B;B	0.17979	0.02;0.014	T	0.08743	-1.0707	10	0.24483	T	0.36	.	9.56	0.39362	0.3106:0.6894:0.0:0.0	.	75;75	Q92854-2;Q92854	.;SEM4D_HUMAN	T	75	ENSP00000344923:A75T;ENSP00000391733:A75T;ENSP00000411981:A75T;ENSP00000343418:A75T;ENSP00000416523:A75T;ENSP00000405102:A75T;ENSP00000348822:A75T;ENSP00000388768:A75T;ENSP00000390754:A75T;ENSP00000413352:A75T	ENSP00000344923:A75T	A	-	1	0	SEMA4D	91207635	0.790000	0.28787	0.079000	0.20413	0.383000	0.30230	1.958000	0.40402	2.470000	0.83445	0.609000	0.83330	GCA		0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
CENPP	401541	broad.mit.edu	37	9	95373612	95373612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:95373612C>T	ENST00000375587.3	+	6	1096	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPP_ENST00000375579.3_Missense_Mutation_p.A21V|CENPP_ENST00000375576.1_Missense_Mutation_p.A8V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	194					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.A194V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TACCCAGATGCCGTGTACCTC	0.652																																					p.A194V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C581T	9						.						66.0	65.0	65.0					9																	95373612		2203	4300	6503	94413433	SO:0001583	missense	401541	exon6			AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.581C>T	9.37:g.95373612C>T	ENSP00000364737:p.Ala194Val		94413433	NM_001012267	B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	2.573	-0.299093	0.05532	.	.	ENSG00000188312	ENST00000375587;ENST00000402724;ENST00000375579;ENST00000375576	.	.	.	5.28	-3.66	0.04489	.	1.597690	0.03455	N	0.211273	T	0.23572	0.0570	N	0.21373	0.66	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.11329	0.006;0.002	T	0.29852	-0.9998	9	0.02654	T	1	0.831	7.5162	0.27602	0.0:0.3307:0.1185:0.5508	.	21;194	B3KRA5;Q6IPU0	.;CENPP_HUMAN	V	194;153;21;8	.	ENSP00000364726:A8V	A	+	2	0	CENPP	94413433	0.000000	0.05858	0.000000	0.03702	0.736000	0.42039	-0.499000	0.06413	-0.514000	0.06488	0.561000	0.74099	GCC		0.652	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267	
NINJ1	4814	broad.mit.edu	37	9	95888773	95888773	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:95888773C>T	ENST00000375446.4	-	2	293	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	75					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.A75T(1)		kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						ACATAGAAGGCGAAGCTGGGG	0.642																																					p.A75T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223A	9						.						111.0	92.0	99.0					9																	95888773		2203	4300	6503	94928594	SO:0001583	missense	4814	exon2			U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.223G>A	9.37:g.95888773C>T	ENSP00000364595:p.Ala75Thr		94928594	NM_004148	Q6GU89|Q8WUV5|Q9BT07	Missense_Mutation	SNP	ENST00000375446.4	37	CCDS6703.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370915	0.24771	.	.	ENSG00000131669	ENST00000375446	T	0.39406	1.08	4.49	0.394	0.16299	.	0.353987	0.32563	N	0.005935	T	0.09862	0.0242	N	0.00621	-1.32	0.27113	N	0.96233	B	0.14805	0.011	B	0.08055	0.003	T	0.26018	-1.0115	10	0.14252	T	0.57	-13.8618	3.7251	0.08472	0.3771:0.3728:0.0:0.25	.	75	Q92982	NINJ1_HUMAN	T	75	ENSP00000364595:A75T	ENSP00000364595:A75T	A	-	1	0	NINJ1	94928594	0.204000	0.23447	0.576000	0.28549	0.992000	0.81027	0.054000	0.14205	-0.015000	0.14150	0.462000	0.41574	GCC		0.642	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148	
WNK2	65268	broad.mit.edu	37	9	96054880	96054880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:96054880delG	ENST00000297954.4	+	23	5244	c.5244delG	c.(5242-5244)gtgfs	p.V1748fs	WNK2_ENST00000427277.2_Frame_Shift_Del_p.V1323fs|WNK2_ENST00000356055.3_Frame_Shift_Del_p.V75fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.V1360fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.V1711fs|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1748					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1698fs*53(1)|p.G1750fs*53(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGGCACAGTGGGGGGCCAGG	0.637																																					p.V1711fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.5133delG	9						.						18.0	18.0	18.0					9																	96054880		2201	4295	6496	95094701	SO:0001589	frameshift_variant	65268	exon22			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5244delG	9.37:g.96054880delG	ENSP00000297954:p.Val1748fs		95094701	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL	ENST00000297954.4	37																																																																																					0.637	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
HIATL1	84641	broad.mit.edu	37	9	97191496	97191496	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:97191496A>G	ENST00000375344.3	+	3	499	c.230A>G	c.(229-231)cAc>cGc	p.H77R	HIATL1_ENST00000428393.2_Missense_Mutation_p.H12R	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	77					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H77R(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TTTTCTCAACACACATTCCTC	0.313																																					p.H77R	Pancreas(77;1260 1915 1973 10423)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A230G	9						.						54.0	51.0	52.0					9																	97191496		2197	4286	6483	96231317	SO:0001583	missense	84641	exon3			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.230A>G	9.37:g.97191496A>G	ENSP00000364493:p.His77Arg		96231317	NM_032558	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	.	14.46	2.543225	0.45280	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.80653	0.4;-1.4	3.24	3.24	0.37175	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000039	D	0.84529	0.5492	L	0.56340	1.77	0.58432	D	0.999999	B;D	0.67145	0.099;0.996	B;D	0.70487	0.101;0.969	D	0.83578	0.0116	10	0.45353	T	0.12	-3.7809	9.8132	0.40835	1.0:0.0:0.0:0.0	.	12;77	B4DUE6;Q5SR56	.;HIAL1_HUMAN	R	77;12	ENSP00000364493:H77R;ENSP00000405909:H12R	ENSP00000364493:H77R	H	+	2	0	HIATL1	96231317	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.170000	0.89673	1.499000	0.48617	0.332000	0.21555	CAC		0.313	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558	
TDRD7	23424	broad.mit.edu	37	9	100258119	100258119	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:100258119A>C	ENST00000355295.4	+	17	3546	c.3251A>C	c.(3250-3252)cAt>cCt	p.H1084P	TDRD7_ENST00000422139.2_Missense_Mutation_p.H1010P|TDRD7_ENST00000540902.1_Missense_Mutation_p.H404P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1084	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.H1084P(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACCTGGATTCATGATTTTATG	0.393																																					p.H1084P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3251C	9						.						132.0	126.0	128.0					9																	100258119		2203	4300	6503	99297940	SO:0001583	missense	23424	exon17			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.3251A>C	9.37:g.100258119A>C	ENSP00000347444:p.His1084Pro		99297940	NM_014290	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128471	0.77549	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.30981	2.05;2.06;1.51	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.55835	-0.8078	10	0.87932	D	0	-21.2155	14.3116	0.66419	1.0:0.0:0.0:0.0	.	404;1084	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	P	1084;1010;404	ENSP00000347444:H1084P;ENSP00000413608:H1010P;ENSP00000440717:H404P	ENSP00000347444:H1084P	H	+	2	0	TDRD7	99297940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.910000	0.92685	2.210000	0.71456	0.460000	0.39030	CAT		0.393	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
PNPLA7	375775	broad.mit.edu	37	9	140374823	140374823	+	Missense_Mutation	SNP	G	G	A	rs150851825		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chr9:140374823G>A	ENST00000277531.4	-	22	2632	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PNPLA7_ENST00000406427.1_Missense_Mutation_p.R841C|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000492278.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	816					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.R816C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGGCCTGGCGCACGCAGCGC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16521	0.0		0.001	False		,,,				2504	0.0				p.R816C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2446T	9						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	47.0	50.0		2521,2446	4.9	1.0	9	dbSNP_134	50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	180,180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	841/1343,816/1318	140374823	2,13002	2203	4299	6502	139494644	SO:0001583	missense	375775	exon22			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2446C>T	9.37:g.140374823G>A	ENSP00000277531:p.Arg816Cys		139494644	NM_152286	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.13	3.767715	0.69878	2.27E-4	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.93550	3.43	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;0.999	T	0.82446	-0.0453	10	0.87932	D	0	-35.0242	13.7651	0.62990	0.0:0.0:0.8462:0.1538	.	224;841;816;82	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	422;224;816;841;816;807	ENSP00000360512:R422C;ENSP00000360501:R224C;ENSP00000277531:R816C;ENSP00000384610:R841C;ENSP00000400582:R807C	ENSP00000277531:R816C	R	-	1	0	PNPLA7	139494644	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.202000	0.65169	2.280000	0.76307	0.313000	0.20887	CGC		0.687	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
TMEM35	59353	broad.mit.edu	37	X	100334000	100334000	+	Silent	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:100334000C>A	ENST00000372930.4	+	1	292	c.9C>A	c.(7-9)tcC>tcA	p.S3S	TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	3						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.S3S(1)		NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CCATGGCATCCCCCAGAACCG	0.582																																					p.S3S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9A	X						.						145.0	105.0	119.0					X																	100334000		2203	4300	6503	100220656	SO:0001819	synonymous_variant	59353	exon1			AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.9C>A	X.37:g.100334000C>A			100220656	NM_021637	Q9H7Y3	Silent	SNP	ENST00000372930.4	37	CCDS14478.1																																																																																				0.582	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637	
TMEM35	59353	broad.mit.edu	37	X	100334066	100334066	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:100334066T>C	ENST00000372930.4	+	1	358	c.75T>C	c.(73-75)acT>acC	p.T25T	TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	25						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.T25T(1)		NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TCATGGGGACTATCAAGCTGA	0.562																																					p.T25T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T75C	X						.						114.0	84.0	94.0					X																	100334066		2203	4300	6503	100220722	SO:0001819	synonymous_variant	59353	exon1			AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.75T>C	X.37:g.100334066T>C			100220722	NM_021637	Q9H7Y3	Silent	SNP	ENST00000372930.4	37	CCDS14478.1																																																																																				0.562	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637	
ARMCX1	51309	broad.mit.edu	37	X	100808969	100808969	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:100808969A>G	ENST00000372829.3	+	4	1427	c.1056A>G	c.(1054-1056)atA>atG	p.I352M		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	352						integral component of membrane (GO:0016021)		p.I352M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AACTAATTATAAACTTTACTG	0.338																																					p.I352M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1056G	X						.						55.0	49.0	51.0					X																	100808969		2203	4299	6502	100695625	SO:0001583	missense	51309	exon4			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.1056A>G	X.37:g.100808969A>G	ENSP00000361917:p.Ile352Met		100695625	NM_016608	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	a	13.05	2.121640	0.37436	.	.	ENSG00000126947	ENST00000372829;ENST00000538894	T	0.32272	1.46	3.2	3.2	0.36748	Armadillo-like helical (1);Armadillo-type fold (1);	0.132739	0.50627	D	0.000112	T	0.26304	0.0642	N	0.04508	-0.205	0.28283	N	0.923897	D	0.69078	0.997	D	0.70227	0.968	T	0.03829	-1.1000	10	0.38643	T	0.18	-11.998	7.1493	0.25601	1.0:0.0:0.0:0.0	.	352	Q9P291	ARMX1_HUMAN	M	352;57	ENSP00000361917:I352M	ENSP00000361917:I352M	I	+	3	3	ARMCX1	100695625	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.127000	0.31357	1.496000	0.48567	0.437000	0.28790	ATA		0.338	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608	
COL4A5	1287	broad.mit.edu	37	X	107834311	107834311	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:107834311G>T	ENST00000361603.2	+	20	1433	c.1189G>T	c.(1189-1191)Ggc>Tgc	p.G397C	COL4A5_ENST00000328300.6_Missense_Mutation_p.G397C	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	397	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G397C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGGTCCTCCTGGCCCTCCTGG	0.463									Alport syndrome with Diffuse Leiomyomatosis																												p.G397C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1189T	X						.						56.0	53.0	54.0					X																	107834311		2203	4300	6503	107720967	SO:0001583	missense	1287	exon20	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1189G>T	X.37:g.107834311G>T	ENSP00000354505:p.Gly397Cys		107720967	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	g	18.04	3.535346	0.64972	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99369	-5.78;-5.78	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.99680	0.9880	H	0.97783	4.075	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	0.97187	0.9855	10	0.87932	D	0	.	17.538	0.87839	0.0:0.0:1.0:0.0	.	397;5;397	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	C	397	ENSP00000331902:G397C;ENSP00000354505:G397C	ENSP00000331902:G397C	G	+	1	0	COL4A5	107720967	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.103000	0.94232	2.069000	0.61940	0.540000	0.68198	GGC		0.463	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
RHOXF2B	727940	broad.mit.edu	37	X	119211114	119211114	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:119211114G>A	ENST00000371402.2	-	2	408	c.219C>T	c.(217-219)ggC>ggT	p.G73G	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	73					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G73G(1)		kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CTTCTCCGCCGCCATCTTTTT	0.587																																					p.G73G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	X						.						14.0	16.0	16.0					X																	119211114		1926	3752	5678	119095142	SO:0001819	synonymous_variant	727940	exon2				CCDS43985.1	Xq24	2011-06-20			ENSG00000203989	ENSG00000203989		"""Homeoboxes / PRD class"""	33519	protein-coding gene	gene with protein product							Standard	NM_001099685		Approved		uc004esj.4	P0C7M4	OTTHUMG00000022288	ENST00000371402.2:c.219C>T	X.37:g.119211114G>A			119095142	NM_032498		Silent	SNP	ENST00000371402.2	37	CCDS43985.1																																																																																				0.587	RHOXF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058081.2	NM_001099685	
TLR8	51311	broad.mit.edu	37	X	12937183	12937183	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:12937183G>A	ENST00000218032.6	+	2	111	c.24G>A	c.(22-24)tcG>tcA	p.S8S	TLR8_ENST00000311912.5_Silent_p.S26S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	8					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S26S(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TCCTTCAGTCGTCAATGCTGA	0.388																																					p.S8S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G24A	X						.						85.0	83.0	83.0					X																	12937183		2203	4300	6503	12847104	SO:0001819	synonymous_variant	51311	exon2			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.24G>A	X.37:g.12937183G>A			12847104	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	CCDS14152.1																																																																																				0.388	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
TMEM255A	55026	broad.mit.edu	37	X	119445132	119445132	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:119445132G>A	ENST00000309720.5	-	1	156	c.33C>T	c.(31-33)agC>agT	p.S11S	TMEM255A_ENST00000371369.4_Silent_p.S11S|TMEM255A_ENST00000440464.1_Silent_p.S11S|TMEM255A_ENST00000480821.1_5'UTR	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	11						integral component of membrane (GO:0016021)		p.S11S(1)									GGGACATGTCGCTGGACCGCT	0.672																																					p.S11S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	X						.						64.0	42.0	49.0					X																	119445132		2186	4278	6464	119329160	SO:0001819	synonymous_variant	55026	exon1			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.33C>T	X.37:g.119445132G>A			119329160	NM_001104545	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	CCDS14597.1																																																																																				0.672	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
UTP14A	10813	broad.mit.edu	37	X	129041402	129041402	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:129041402G>C	ENST00000394422.3	+	2	114	c.86G>C	c.(85-87)aGt>aCt	p.S29T	UTP14A_ENST00000425117.2_Missense_Mutation_p.S29T|UTP14A_ENST00000371051.5_5'UTR|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	29					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.S29T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						tacctcttgagtgagagtgaa	0.433																																					p.S29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G86C	X						.						102.0	84.0	90.0					X																	129041402		2203	4300	6503	128869083	SO:0001583	missense	10813	exon2			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.86G>C	X.37:g.129041402G>C	ENSP00000377944:p.Ser29Thr		128869083	NM_006649	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	8.552	0.875643	0.17395	.	.	ENSG00000156697	ENST00000425117;ENST00000394422	T;T	0.20332	2.08;2.09	4.9	2.16	0.27623	.	0.268758	0.46442	D	0.000283	T	0.38453	0.1041	M	0.70275	2.135	0.18873	N	0.999984	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.13602	-1.0503	10	0.40728	T	0.16	-6.05	6.5628	0.22495	0.3218:0.0:0.6782:0.0	.	29;29	E9PEL7;Q9BVJ6	.;UT14A_HUMAN	T	29	ENSP00000388669:S29T;ENSP00000377944:S29T	ENSP00000377944:S29T	S	+	2	0	UTP14A	128869083	0.801000	0.28930	0.002000	0.10522	0.025000	0.11179	1.373000	0.34272	0.036000	0.15547	-0.296000	0.09543	AGT		0.433	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	
ELF4	2000	broad.mit.edu	37	X	129205018	129205018	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:129205018A>G	ENST00000308167.5	-	7	1185	c.806T>C	c.(805-807)cTa>cCa	p.L269P	ELF4_ENST00000335997.7_Missense_Mutation_p.L269P	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.L269P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTCCTACCTTAGTGCCCGCCC	0.517			T	ERG	AML																																p.L269P			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T806C	X						.						203.0	174.0	184.0					X																	129205018		2203	4300	6503	129032699	SO:0001583	missense	2000	exon7			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.806T>C	X.37:g.129205018A>G	ENSP00000311280:p.Leu269Pro		129032699	NM_001421		Missense_Mutation	SNP	ENST00000308167.5	37	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731987	0.89390	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.71934	-0.61;-0.61	5.27	5.27	0.74061	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000001	D	0.87993	0.6318	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90832	0.4717	10	0.87932	D	0	.	12.0655	0.53586	1.0:0.0:0.0:0.0	.	269	Q99607	ELF4_HUMAN	P	269	ENSP00000338608:L269P;ENSP00000311280:L269P	ENSP00000311280:L269P	L	-	2	0	ELF4	129032699	1.000000	0.71417	0.236000	0.24074	0.517000	0.34286	9.287000	0.95975	1.752000	0.51891	0.380000	0.24917	CTA		0.517	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
RBMX2	51634	broad.mit.edu	37	X	129546484	129546484	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:129546484G>A	ENST00000305536.6	+	6	695	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	211	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E211K(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CAAGAACTCAGAGAGAGCTCA	0.557																																					p.E211K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	X						.						55.0	55.0	55.0					X																	129546484		1956	4139	6095	129374165	SO:0001583	missense	51634	exon6			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.631G>A	X.37:g.129546484G>A	ENSP00000339090:p.Glu211Lys		129374165	NM_016024	A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008837	0.35415	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.11712	2.75	4.31	3.44	0.39384	.	1.009570	0.07960	N	0.982187	T	0.09468	0.0233	L	0.32530	0.975	0.09310	N	0.999992	P	0.50443	0.935	B	0.43194	0.411	T	0.21965	-1.0230	10	0.19147	T	0.46	.	7.0521	0.25079	0.1278:0.0:0.8722:0.0	.	211	Q9Y388	RBMX2_HUMAN	K	211	ENSP00000339090:E211K	ENSP00000339090:E211K	E	+	1	0	RBMX2	129374165	0.999000	0.42202	0.012000	0.15200	0.051000	0.14879	3.885000	0.56182	0.931000	0.37242	0.600000	0.82982	GAG		0.557	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024	
GPC3	2719	broad.mit.edu	37	X	132888100	132888100	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:132888100T>A	ENST00000370818.3	-	3	886	c.441A>T	c.(439-441)gaA>gaT	p.E147D	GPC3_ENST00000543339.1_Missense_Mutation_p.E93D|GPC3_ENST00000394299.2_Missense_Mutation_p.E147D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	147					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.E147D(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTGTGAAAAATTCACCCACAA	0.423			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.E131D		yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A393T	X						.						385.0	298.0	327.0					X																	132888100		2203	4300	6503	132715766	SO:0001583	missense	2719	exon3	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.441A>T	X.37:g.132888100T>A	ENSP00000359854:p.Glu147Asp		132715766	NM_001164618	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.724280	0.30593	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.48836	0.8;0.8;0.8	5.48	3.1	0.35709	.	0.106415	0.64402	D	0.000004	T	0.36496	0.0969	L	0.36672	1.1	0.32279	N	0.56789	B;B;B;B	0.27192	0.045;0.171;0.051;0.1	B;B;B;B	0.31101	0.06;0.124;0.06;0.06	T	0.42344	-0.9457	10	0.72032	D	0.01	.	7.0747	0.25197	0.0:0.257:0.0:0.743	.	131;93;147;147	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	D	147;147;93	ENSP00000359854:E147D;ENSP00000377836:E147D;ENSP00000444222:E93D	ENSP00000359854:E147D	E	-	3	2	GPC3	132715766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.345000	0.33953	0.245000	0.21373	0.481000	0.45027	GAA		0.423	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484	
ZNF75D	7626	broad.mit.edu	37	X	134421429	134421429	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:134421429T>C	ENST00000370766.3	-	7	3882	c.1173A>G	c.(1171-1173)aaA>aaG	p.K391K	ZNF75D_ENST00000370764.1_Silent_p.K296K|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	391					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.K391K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATTTATAGGGTTTCTCTCCAG	0.403																																					p.K391K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1173G	X						.						79.0	73.0	75.0					X																	134421429		2203	4300	6503	134249095	SO:0001819	synonymous_variant	7626	exon6			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1173A>G	X.37:g.134421429T>C			134249095	NM_007131	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Silent	SNP	ENST00000370766.3	37	CCDS14648.1																																																																																				0.403	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131	
SAGE1	55511	broad.mit.edu	37	X	134990329	134990329	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:134990329C>T	ENST00000370709.3	+	10	1241	c.1241C>T	c.(1240-1242)aCa>aTa	p.T414I	SAGE1_ENST00000535938.1_Missense_Mutation_p.T414I|SAGE1_ENST00000324447.3_Missense_Mutation_p.T414I|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	414						nucleus (GO:0005634)		p.T414I(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCAGCTGTTACACCAGAGCTT	0.433																																					p.T414I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1241T	X						.						152.0	131.0	138.0					X																	134990329		2203	4300	6503	134817995	SO:0001583	missense	55511	exon11			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1241C>T	X.37:g.134990329C>T	ENSP00000359743:p.Thr414Ile		134817995	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	9.943	1.217902	0.22373	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.34072	1.38;1.38;1.38	0.673	0.673	0.17941	.	0.191410	0.31279	U	0.007925	T	0.18045	0.0433	N	0.08118	0	0.09310	N	0.999999	D	0.55172	0.97	P	0.45276	0.475	T	0.14952	-1.0454	9	0.37606	T	0.19	.	.	.	.	.	414	Q9NXZ1	SAGE1_HUMAN	I	414	ENSP00000323191:T414I;ENSP00000445959:T414I;ENSP00000359743:T414I	ENSP00000323191:T414I	T	+	2	0	SAGE1	134817995	0.023000	0.18921	0.001000	0.08648	0.010000	0.07245	1.337000	0.33862	0.591000	0.29711	0.149000	0.16113	ACA		0.433	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
MAP7D3	79649	broad.mit.edu	37	X	135323323	135323323	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:135323323T>G	ENST00000316077.9	-	5	751	c.531A>C	c.(529-531)aaA>aaC	p.K177N	MAP7D3_ENST00000370663.5_Missense_Mutation_p.K159N|MAP7D3_ENST00000370661.1_Missense_Mutation_p.K177N	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	177					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.K474N(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AATTACCAGTTTTGCTCTCAG	0.363																																					p.K177N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A531C	X						.						62.0	57.0	59.0					X																	135323323		1845	4098	5943	135150989	SO:0001583	missense	79649	exon5			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.531A>C	X.37:g.135323323T>G	ENSP00000318086:p.Lys177Asn		135150989	NM_001173517	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.862200	0.51482	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07908	3.15;3.6;3.6;3.6	5.15	-0.163	0.13363	.	.	.	.	.	T	0.17109	0.0411	L	0.49778	1.585	0.09310	N	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.74023	0.913;0.95;0.913;0.982	T	0.21552	-1.0242	9	0.20046	T	0.44	-9.0168	8.6732	0.34163	0.0:0.3242:0.0:0.6758	.	159;177;177;177	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	N	177;177;159;177	ENSP00000359695:K177N;ENSP00000318086:K177N;ENSP00000359697:K159N;ENSP00000359694:K177N	ENSP00000318086:K177N	K	-	3	2	MAP7D3	135150989	0.005000	0.15991	0.000000	0.03702	0.068000	0.16541	0.006000	0.13152	-0.413000	0.07507	0.437000	0.28790	AAA		0.363	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
GPR112	139378	broad.mit.edu	37	X	135430061	135430061	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:135430061A>G	ENST00000394143.1	+	6	4487	c.4196A>G	c.(4195-4197)aAc>aGc	p.N1399S	GPR112_ENST00000370652.1_Missense_Mutation_p.N1399S|GPR112_ENST00000287534.4_Missense_Mutation_p.N1336S|GPR112_ENST00000394141.1_Missense_Mutation_p.N1194S|GPR112_ENST00000412101.1_Missense_Mutation_p.N1194S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1399					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.N1399S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGATAGTAAACTCCACCTAT	0.443																																					p.N1399S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4196G	X						.						167.0	157.0	161.0					X																	135430061		2203	4300	6503	135257727	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4196A>G	X.37:g.135430061A>G	ENSP00000377699:p.Asn1399Ser		135257727	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.744066	0.00005	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28069	1.66;1.66;1.63;1.77;1.63	2.27	-0.809	0.10864	.	.	.	.	.	T	0.08088	0.0202	N	0.02247	-0.625	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.32534	-0.9903	9	0.02654	T	1	.	2.7698	0.05330	0.3586:0.2471:0.3942:0.0	.	1336;1194;1399	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1399;1399;1194;1336;1194	ENSP00000377699:N1399S;ENSP00000359686:N1399S;ENSP00000416526:N1194S;ENSP00000287534:N1336S;ENSP00000377697:N1194S	ENSP00000287534:N1336S	N	+	2	0	GPR112	135257727	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.050000	0.14120	-0.345000	0.08325	-1.355000	0.01225	AAC		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
SOX3	6658	broad.mit.edu	37	X	139586763	139586763	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:139586763G>A	ENST00000370536.2	-	1	462	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	155					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R155C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632																																					p.R155C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463T	X						.						49.0	50.0	50.0					X																	139586763		2203	4300	6503	139414429	SO:0001583	missense	6658	exon1				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.463C>T	X.37:g.139586763G>A	ENSP00000359567:p.Arg155Cys		139414429	NM_005634	P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518465	0.64634	.	.	ENSG00000134595	ENST00000370536	D	0.99277	-5.67	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.99465	0.9810	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98794	1.0737	9	.	.	.	.	10.1878	0.43009	0.0:0.0:0.8014:0.1986	.	155	P41225	SOX3_HUMAN	C	155	ENSP00000359567:R155C	.	R	-	1	0	SOX3	139414429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.574000	0.53863	1.638000	0.50547	0.525000	0.51046	CGC		0.632	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1		
GPR50	9248	broad.mit.edu	37	X	150349079	150349079	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:150349079G>A	ENST00000218316.3	+	2	1093	c.1024G>A	c.(1024-1026)Gct>Act	p.A342T	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	342	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.A342T(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGCCCATGCTCGCGACCA	0.577																																					p.A342T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1024A	X						.						99.0	103.0	102.0					X																	150349079		2134	4211	6345	150099737	SO:0001583	missense	9248	exon2			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1024G>A	X.37:g.150349079G>A	ENSP00000218316:p.Ala342Thr		150099737	NM_004224	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015150	0.54468	.	.	ENSG00000102195	ENST00000218316	T	0.61040	0.14	3.9	3.03	0.35002	.	0.198182	0.25253	N	0.032018	T	0.38825	0.1055	N	0.24115	0.695	0.09310	N	1	B	0.27882	0.192	B	0.23150	0.044	T	0.18999	-1.0319	10	0.33141	T	0.24	-12.676	9.4761	0.38873	0.1139:0.0:0.8861:0.0	.	342	Q13585	MTR1L_HUMAN	T	342	ENSP00000218316:A342T	ENSP00000218316:A342T	A	+	1	0	GPR50	150099737	0.046000	0.20272	0.020000	0.16555	0.010000	0.07245	0.616000	0.24344	0.760000	0.33108	0.529000	0.55759	GCT		0.577	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
VMA21	203547	broad.mit.edu	37	X	150573468	150573468	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:150573468C>A	ENST00000330374.6	+	3	349	c.244C>A	c.(244-246)Ctc>Atc	p.L82I	VMA21_ENST00000477649.1_3'UTR|VMA21_ENST00000370361.1_Missense_Mutation_p.L137I	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)									p.L82I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						GGTGCTGGCCCTCTTTGTGTA	0.448																																					p.L82I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244A	X						.						138.0	109.0	119.0					X																	150573468		2203	4300	6503	150324126	SO:0001583	missense	203547	exon3			AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"""myopathy with excessive autophagy"""	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.244C>A	X.37:g.150573468C>A	ENSP00000333255:p.Leu82Ile		150324126	NM_001017980		Missense_Mutation	SNP	ENST00000330374.6	37	CCDS35430.1	.	.	.	.	.	.	.	.	.	.	.	14.21	2.467447	0.43839	.	.	ENSG00000160131	ENST00000370361;ENST00000330374	.	.	.	5.8	5.8	0.92144	Vacuolar ATPase assembly integral membrane protein VMA21-like domain (1);	0.130764	0.50627	D	0.000112	T	0.40979	0.1139	L	0.28192	0.835	0.45477	D	0.998442	P	0.47253	0.892	B	0.43018	0.405	T	0.23154	-1.0196	9	0.30078	T	0.28	-12.0923	11.3407	0.49531	0.1809:0.8191:0.0:0.0	.	82	Q3ZAQ7	VMA21_HUMAN	I	137;82	.	ENSP00000333255:L82I	L	+	1	0	VMA21	150324126	0.998000	0.40836	0.981000	0.43875	0.982000	0.71751	1.814000	0.38972	2.434000	0.82447	0.600000	0.82982	CTC		0.448	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980	
GABRE	2564	broad.mit.edu	37	X	151123498	151123498	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:151123498C>T	ENST00000370328.3	-	9	1249	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	GABRE_ENST00000370325.1_3'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	399					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R286H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Ketazolam(DB01587)|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)	CTGATGTTGGCGGGCACAGGC	0.577																																					p.R399H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1196A	X						.						29.0	24.0	26.0					X																	151123498		2203	4298	6501	150874154	SO:0001583	missense	2564	exon9			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1196G>A	X.37:g.151123498C>T	ENSP00000359353:p.Arg399His		150874154	NM_004961	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	8.138	0.784604	0.16189	.	.	ENSG00000102287	ENST00000370328	D	0.85861	-2.04	5.06	-0.76	0.11041	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.70422	0.3222	N	0.26092	0.79	0.09310	N	1	B	0.22211	0.066	B	0.17722	0.019	T	0.52102	-0.8620	9	0.20519	T	0.43	.	4.6809	0.12734	0.5018:0.3057:0.0:0.1925	.	399	P78334	GBRE_HUMAN	H	399	ENSP00000359353:R399H	ENSP00000359353:R399H	R	-	2	0	GABRE	150874154	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-1.231000	0.02939	-0.469000	0.06911	-0.222000	0.12452	CGC		0.577	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
ZNF185	7739	broad.mit.edu	37	X	152086613	152086613	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:152086613G>A	ENST00000370268.4	+	6	383	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	ZNF185_ENST00000370270.2_Missense_Mutation_p.A116T|ZNF185_ENST00000318504.7_Missense_Mutation_p.A116T|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000539731.1_Missense_Mutation_p.A116T|ZNF185_ENST00000535861.1_Missense_Mutation_p.A116T|ZNF185_ENST00000449285.2_Missense_Mutation_p.A116T|ZNF185_ENST00000318529.8_5'UTR			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	116						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.A116T(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTAGTGCTGCCAGTCTGGT	0.572																																					p.A116T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346A	X						.						69.0	73.0	72.0					X																	152086613		2043	4149	6192	151837269	SO:0001583	missense	7739	exon6			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.346G>A	X.37:g.152086613G>A	ENSP00000359291:p.Ala116Thr		151837269	NM_007150	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773156	0.31411	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000370268	T;T;T;T;T	0.50277	0.77;0.8;0.75;0.82;0.79	4.45	0.35	0.16037	.	.	.	.	.	T	0.33059	0.0850	L	0.40543	1.245	0.09310	N	0.999992	B;B;B;B;B;B	0.19331	0.005;0.001;0.035;0.005;0.005;0.005	B;B;B;B;B;B	0.16289	0.015;0.001;0.015;0.015;0.009;0.003	T	0.24693	-1.0153	9	0.48119	T	0.1	.	3.5256	0.07759	0.2105:0.0:0.4377:0.3518	.	116;116;116;116;116;116	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231	.;.;.;.;.;ZN185_HUMAN	T	116	ENSP00000440847:A116T;ENSP00000444367:A116T;ENSP00000395228:A116T;ENSP00000312782:A116T;ENSP00000359291:A116T	ENSP00000312782:A116T	A	+	1	0	ZNF185	151837269	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.152000	0.10159	-0.185000	0.10550	0.529000	0.55759	GCC		0.572	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	
ZNF275	10838	broad.mit.edu	37	X	152612799	152612799	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:152612799A>G	ENST00000421401.3	+	4	833	c.656A>G	c.(655-657)aAa>aGa	p.K219R	ZNF275_ENST00000440091.1_Missense_Mutation_p.K249R|ZNF275_ENST00000370249.2_Missense_Mutation_p.K166R|ZNF275_ENST00000370251.3_Missense_Mutation_p.K219R			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	219					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.K166R(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGTCGTTCAAAGTCAACACC	0.537																																					p.K219R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A656G	X						.						115.0	121.0	119.0					X																	152612799		2183	4267	6450	152265993	SO:0001583	missense	10838	exon4			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.656A>G	X.37:g.152612799A>G	ENSP00000398977:p.Lys219Arg		152265993	NM_001080485	A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37		.	.	.	.	.	.	.	.	.	.	A	2.138	-0.397394	0.04899	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.62	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000327	T	0.10637	0.0260	N	0.20304	0.555	0.09310	N	0.999993	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.21930	-1.0231	10	0.34782	T	0.22	-9.9001	3.4458	0.07480	0.5878:0.1994:0.2129:0.0	.	219;219	Q9NSD4;A6NFS0	ZN275_HUMAN;.	R	219;219;249;166	ENSP00000359271:K219R;ENSP00000398977:K219R;ENSP00000411097:K249R;ENSP00000359269:K166R	ENSP00000359269:K166R	K	+	2	0	ZNF275	152265993	0.000000	0.05858	0.125000	0.21846	0.793000	0.44817	-0.271000	0.08572	0.207000	0.20607	0.417000	0.27973	AAA		0.537	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485	
AVPR2	554	broad.mit.edu	37	X	153171032	153171032	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:153171032C>A	ENST00000358927.2	+	3	281	c.72C>A	c.(70-72)agC>agA	p.S24R	AVPR2_ENST00000337474.5_Missense_Mutation_p.S24R|AVPR2_ENST00000370049.1_Missense_Mutation_p.S24R			P30518	V2R_HUMAN	arginine vasopressin receptor 2	24					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.S24R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCAACAGCAGCCAGGAGAGGC	0.672																																					p.S24R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C72A	X						.						7.0	8.0	8.0					X																	153171032		2096	4164	6260	152824226	SO:0001583	missense	554	exon2			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.72C>A	X.37:g.153171032C>A	ENSP00000351805:p.Ser24Arg		152824226	NM_000054	C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938383	0.73557	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.76448	-1.02;-0.86;-1.02;-0.48	4.03	3.15	0.36227	.	1.512080	0.03697	N	0.247927	T	0.82089	0.4961	M	0.65975	2.015	0.43890	D	0.996515	D;D	0.64830	0.994;0.968	P;P	0.50934	0.654;0.452	T	0.69573	-0.5109	10	0.72032	D	0.01	-18.9609	7.0262	0.24942	0.0:0.8649:0.0:0.1351	.	24;24	P30518-2;P30518	.;V2R_HUMAN	R	24	ENSP00000351805:S24R;ENSP00000393513:S24R;ENSP00000338072:S24R;ENSP00000359066:S24R	ENSP00000338072:S24R	S	+	3	2	AVPR2	152824226	0.613000	0.27009	0.255000	0.24374	0.324000	0.28378	0.262000	0.18460	0.650000	0.30769	0.173000	0.16961	AGC		0.672	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2		
GYG2	8908	broad.mit.edu	37	X	2777918	2777918	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:2777918G>A	ENST00000381163.3	+	8	1024	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	GYG2_ENST00000542787.1_Missense_Mutation_p.G248R|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.G217R|GYG2_ENST00000338623.5_Missense_Mutation_p.G248R	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	248					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.G248R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				CCACTTTTTGGGGTCCATGAA	0.502																																					p.G248R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	X						.						69.0	58.0	62.0					X																	2777918		2203	4298	6501	2787918	SO:0001583	missense	8908	exon8			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.742G>A	X.37:g.2777918G>A	ENSP00000370555:p.Gly248Arg		2787918	NM_001184703	B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	CCDS14121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.769028|2.769028	0.49680|0.49680	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000381157|ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	.|T;T;T;T	.|0.73258	.|-0.73;-0.73;-0.73;-0.73	3.73|3.73	3.73|3.73	0.42828|0.42828	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000020|0.000020	D|D	0.88607|0.88607	0.6482|0.6482	H|H	0.96239|0.96239	3.79|3.79	0.51767|0.51767	D|D	0.999932|0.999932	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0	D|D	0.92454|0.92454	0.5972|0.5972	6|10	.|0.87932	.|D	.|0	.|.	14.936|14.936	0.70954|0.70954	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|248;248;208;217;217;248	.|O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.|.;.;.;.;.;GLYG2_HUMAN	E|R	66|217;248;248;248	.|ENSP00000381786:G217R;ENSP00000370555:G248R;ENSP00000341273:G248R;ENSP00000446092:G248R	.|ENSP00000341273:G248R	G|G	+|+	2|1	0|0	GYG2|GYG2	2787918|2787918	1.000000|1.000000	0.71417|0.71417	0.613000|0.613000	0.29037|0.29037	0.067000|0.067000	0.16453|0.16453	6.924000|6.924000	0.75823|0.75823	1.500000|1.500000	0.48636|0.48636	0.529000|0.529000	0.55759|0.55759	GGG|GGG		0.502	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918	
NLGN4X	57502	broad.mit.edu	37	X	5811121	5811121	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:5811121T>C	ENST00000381095.3	-	6	2815	c.2188A>G	c.(2188-2190)Atg>Gtg	p.M730V	NLGN4X_ENST00000381093.2_Missense_Mutation_p.M750V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.M730V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.M730V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.M730V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	730					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.M730V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGCAGAGACATGATCTCTTCG	0.547																																					p.M730V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2188G	X						.						163.0	121.0	135.0					X																	5811121		2203	4300	6503	5821121	SO:0001583	missense	57502	exon6			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2188A>G	X.37:g.5811121T>C	ENSP00000370485:p.Met730Val		5821121	NM_020742	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	3.100	-0.184921	0.06340	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	3.82	3.82	0.43975	.	0.599350	0.13950	N	0.351623	T	0.18087	0.0434	L	0.52905	1.665	0.40655	D	0.982076	B;B;B	0.18610	0.017;0.017;0.029	B;B;B	0.17979	0.009;0.009;0.02	T	0.02877	-1.1099	10	0.32370	T	0.25	.	11.2516	0.49028	0.0:0.0:0.0:1.0	.	787;730;750	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	730;750;730;730;730	ENSP00000370485:M730V;ENSP00000370483:M750V;ENSP00000275857:M730V;ENSP00000370482:M730V;ENSP00000439203:M730V	ENSP00000275857:M730V	M	-	1	0	NLGN4X	5821121	0.991000	0.36638	0.986000	0.45419	0.183000	0.23260	1.931000	0.40134	1.222000	0.43521	0.417000	0.27973	ATG		0.547	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
SHROOM2	357	broad.mit.edu	37	X	9900449	9900449	+	Silent	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:9900449T>C	ENST00000380913.3	+	6	3216	c.3126T>C	c.(3124-3126)caT>caC	p.H1042H	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1042					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.H1042H(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CACCCCTGCATGCTCGAGGAC	0.652																																					p.H1042H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3126C	X						.						19.0	17.0	18.0					X																	9900449		2193	4290	6483	9860449	SO:0001819	synonymous_variant	357	exon6			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3126T>C	X.37:g.9900449T>C			9860449	NM_001649	B9EIQ7	Silent	SNP	ENST00000380913.3	37	CCDS14135.1																																																																																				0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
SHROOM2	357	broad.mit.edu	37	X	9907300	9907300	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:9907300C>T	ENST00000380913.3	+	8	4295	c.4205C>T	c.(4204-4206)tCg>tTg	p.S1402L	SHROOM2_ENST00000418909.2_Missense_Mutation_p.S237L	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1402	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.S1402L(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TACAGCACGTCGGCCCCCAAG	0.602																																					p.S1402L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4205T	X						.						57.0	42.0	47.0					X																	9907300		2203	4300	6503	9867300	SO:0001583	missense	357	exon8			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4205C>T	X.37:g.9907300C>T	ENSP00000370299:p.Ser1402Leu		9867300	NM_001649	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101215	0.76983	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.33654	1.4;1.4;1.4	5.44	5.44	0.79542	Apx/shroom, ASD2 (2);	0.132403	0.52532	D	0.000072	T	0.60919	0.2306	M	0.82323	2.585	0.58432	D	0.999991	D;D	0.60160	0.987;0.985	P;P	0.58172	0.834;0.448	T	0.68100	-0.5498	10	0.87932	D	0	-4.6338	18.4668	0.90758	0.0:1.0:0.0:0.0	.	237;1402	Q68DU3;Q13796	.;SHRM2_HUMAN	L	1402;237;237;237	ENSP00000370299:S1402L;ENSP00000415229:S237L;ENSP00000406724:S237L	ENSP00000370299:S1402L	S	+	2	0	SHROOM2	9867300	1.000000	0.71417	0.043000	0.18650	0.792000	0.44763	7.339000	0.79282	2.301000	0.77427	0.596000	0.82720	TCG		0.602	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
SHROOM2	357	broad.mit.edu	37	X	9914830	9914830	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:9914830C>T	ENST00000380913.3	+	10	4794	c.4704C>T	c.(4702-4704)agC>agT	p.S1568S	SHROOM2_ENST00000418909.2_Silent_p.S403S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1568	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.S1568S(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ACTATCTGAGCGAGGAGAGCC	0.562																																					p.S1568S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4704T	X						.						50.0	43.0	45.0					X																	9914830		2203	4299	6502	9874830	SO:0001819	synonymous_variant	357	exon10			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4704C>T	X.37:g.9914830C>T			9874830	NM_001649	B9EIQ7	Silent	SNP	ENST00000380913.3	37	CCDS14135.1																																																																																				0.562	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
CTPS2	56474	broad.mit.edu	37	X	16657320	16657320	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:16657320A>G	ENST00000443824.1	-	14	2086	c.1343T>C	c.(1342-1344)aTg>aCg	p.M448T	CTPS2_ENST00000359276.4_Missense_Mutation_p.M448T|CTPS2_ENST00000380241.3_Missense_Mutation_p.M448T	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	448	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.M448T(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCCCAGTCTCATTGTTCCTCC	0.358																																					p.M448T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1343C	X						.						146.0	134.0	138.0					X																	16657320		2203	4300	6503	16567241	SO:0001583	missense	56474	exon14			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1343T>C	X.37:g.16657320A>G	ENSP00000401264:p.Met448Thr		16567241	NM_001144002	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.2|21.2	4.118903|4.118903	0.77323|0.77323	.|.	.|.	ENSG00000047230|ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207|ENST00000455276	D;D;D|.	0.90261|.	-2.64;-2.64;-2.64|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Glutamine amidotransferase type 1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.89420|.	0.6710|.	H|H	0.99104|0.99104	4.43|4.43	0.80722|0.80722	D|D	1|1	B|.	0.31274|.	0.317|.	P|.	0.45276|.	0.475|.	D|.	0.93433|.	0.6787|.	10|.	0.87932|.	D|.	0|.	-29.3006|-29.3006	14.027|14.027	0.64592|0.64592	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	448|.	Q9NRF8|.	PYRG2_HUMAN|.	T|R	448;448;448;114|70	ENSP00000401264:M448T;ENSP00000369590:M448T;ENSP00000352222:M448T|.	ENSP00000352222:M448T|.	M|X	-|-	2|1	0|0	CTPS2|CTPS2	16567241|16567241	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.994000|0.994000	0.84299|0.84299	7.107000|7.107000	0.77047|0.77047	1.958000|1.958000	0.56883|0.56883	0.441000|0.441000	0.28932|0.28932	ATG|TGA		0.358	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857	
BEND2	139105	broad.mit.edu	37	X	18238860	18238860	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:18238860C>A	ENST00000380033.4	-	1	143	c.11G>T	c.(10-12)aGg>aTg	p.R4M	BEND2_ENST00000380030.3_Missense_Mutation_p.R4M	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	4								p.R4M(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCCTGGGTCCTCTCTGACAT	0.612																																					p.R4M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11T	X						.						174.0	136.0	149.0					X																	18238860		2203	4300	6503	18148781	SO:0001583	missense	139105	exon1			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.11G>T	X.37:g.18238860C>A	ENSP00000369372:p.Arg4Met		18148781	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000486	0.02128	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24908	1.86;1.83	0.427	-0.854	0.10705	.	.	.	.	.	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	P;B	0.36616	0.561;0.418	B;B	0.23574	0.047;0.029	T	0.16719	-1.0393	8	0.54805	T	0.06	.	.	.	.	.	4;4	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	M	4	ENSP00000369372:R4M;ENSP00000369369:R4M	ENSP00000369369:R4M	R	-	2	0	BEND2	18148781	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.892000	0.01610	-1.575000	0.01655	-1.576000	0.00868	AGG		0.612	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
PHKA2	5256	broad.mit.edu	37	X	18924858	18924858	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:18924858G>A	ENST00000379942.4	-	24	3337	c.2672C>T	c.(2671-2673)aCg>aTg	p.T891M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	891					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.T891M(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAGACCTGCGTGAGGACGGC	0.597																																					p.T891M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2672T	X						.						158.0	144.0	149.0					X																	18924858		2203	4300	6503	18834779	SO:0001583	missense	5256	exon24				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2672C>T	X.37:g.18924858G>A	ENSP00000369274:p.Thr891Met		18834779	NM_000292	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050634	0.75960	.	.	ENSG00000044446	ENST00000379942	D	0.90197	-2.63	4.95	4.95	0.65309	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97637	1.0146	10	0.87932	D	0	-13.1398	17.6171	0.88070	0.0:0.0:1.0:0.0	.	891	P46019	KPB2_HUMAN	M	891	ENSP00000369274:T891M	ENSP00000369274:T891M	T	-	2	0	PHKA2	18834779	1.000000	0.71417	0.985000	0.45067	0.422000	0.31414	9.708000	0.98727	2.176000	0.68965	0.513000	0.50165	ACG		0.597	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
GPR64	10149	broad.mit.edu	37	X	19042032	19042032	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:19042032T>G	ENST00000379869.3	-	12	668	c.505A>C	c.(505-507)Agt>Cgt	p.S169R	GPR64_ENST00000360279.4_Missense_Mutation_p.S147R|GPR64_ENST00000340581.3_Missense_Mutation_p.S139R|GPR64_ENST00000379876.1_Missense_Mutation_p.S145R|GPR64_ENST00000379878.3_Missense_Mutation_p.S153R|GPR64_ENST00000379873.2_Missense_Mutation_p.S169R|GPR64_ENST00000354791.3_Missense_Mutation_p.S153R|GPR64_ENST00000356606.4_Missense_Mutation_p.S155R|GPR64_ENST00000357544.3_Missense_Mutation_p.S139R|GPR64_ENST00000357991.3_Missense_Mutation_p.S166R	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	169					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S166R(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					ATTACCTCACTTAGGGTTTGC	0.368																																					p.S139R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A415C	X						.						135.0	119.0	124.0					X																	19042032		2203	4300	6503	18951953	SO:0001583	missense	10149	exon10			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.505A>C	X.37:g.19042032T>G	ENSP00000369198:p.Ser169Arg		18951953	NM_001184837	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118594	0.56505	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581;ENST00000397917	T;T;T;T;T;T;T;T;T;T	0.60920	0.59;0.71;0.71;0.76;0.75;0.74;0.75;0.74;0.75;0.15	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000003	T	0.64193	0.2576	L	0.34521	1.04	0.36209	D	0.851237	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.998;0.998	T	0.72737	-0.4203	10	0.87932	D	0	.	9.9639	0.41712	0.0:0.0:0.0:1.0	.	139;131;139;145;153;169;147;155;166;169;153	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	R	169;153;153;145;139;169;147;166;155;139;92	ENSP00000369202:S169R;ENSP00000369207:S153R;ENSP00000346845:S153R;ENSP00000369205:S145R;ENSP00000350152:S139R;ENSP00000369198:S169R;ENSP00000353421:S147R;ENSP00000350680:S166R;ENSP00000349015:S155R;ENSP00000344972:S139R	ENSP00000344972:S139R	S	-	1	0	GPR64	18951953	1.000000	0.71417	0.994000	0.49952	0.735000	0.41995	2.065000	0.41442	1.876000	0.54355	0.486000	0.48141	AGT		0.368	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
FAM47B	170062	broad.mit.edu	37	X	34961296	34961296	+	Silent	SNP	G	G	A	rs140472896	byFrequency	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:34961296G>A	ENST00000329357.5	+	1	384	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	116								p.A116A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CACGGAAGGCGTTCGTAGAGG	0.542													G|||	7	0.0018543	0.0053	0.0	3775	,	,		11803	0.0		0.0	False		,,,				2504	0.0				p.A116A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G348A	X						.	G		26,3807		0,23,3,1608,568	92.0	83.0	86.0		348	-1.7	0.0	X	dbSNP_134	86	0,6728		0,0,0,2428,1872	no	coding-synonymous	FAM47B	NM_152631.2		0,23,3,4036,2440	AA,AG,A,GG,G		0.0,0.6783,0.2462		116/646	34961296	26,10535	2202	4300	6502	34871217	SO:0001819	synonymous_variant	170062	exon1			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.348G>A	X.37:g.34961296G>A			34871217	NM_152631	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.542	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
SYTL5	94122	broad.mit.edu	37	X	37965869	37965869	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:37965869C>T	ENST00000357972.5	+	11	1725	c.1179C>T	c.(1177-1179)agC>agT	p.S393S	SYTL5_ENST00000456733.2_Silent_p.S415S|SYTL5_ENST00000297875.2_Silent_p.S393S|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	393					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.S393S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GCATGATGAGCGTTTACAGTG	0.408																																					p.S393S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1179T	X						.						175.0	143.0	154.0					X																	37965869		2202	4300	6502	37850813	SO:0001819	synonymous_variant	94122	exon11				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1179C>T	X.37:g.37965869C>T			37850813	NM_138780	A2RRF2	Silent	SNP	ENST00000357972.5	37	CCDS14244.1																																																																																				0.408	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
SYTL5	94122	broad.mit.edu	37	X	37981339	37981339	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:37981339A>G	ENST00000357972.5	+	15	2258	c.1712A>G	c.(1711-1713)aAg>aGg	p.K571R	SYTL5_ENST00000456733.2_Missense_Mutation_p.K593R|SYTL5_ENST00000297875.2_Missense_Mutation_p.K571R|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	571					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.K571R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ACAGGAAATAAGACTTTTAAA	0.353																																					p.K571R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1712G	X						.						54.0	49.0	51.0					X																	37981339		2202	4300	6502	37866283	SO:0001583	missense	94122	exon15				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1712A>G	X.37:g.37981339A>G	ENSP00000350657:p.Lys571Arg		37866283	NM_138780	A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216411	0.58452	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.21932	1.98;1.98;2.26	5.34	2.93	0.34026	C2 calcium/lipid-binding domain, CaLB (1);	0.187478	0.43110	D	0.000618	T	0.40171	0.1106	M	0.72118	2.19	0.39882	D	0.973654	D;D	0.89917	1.0;0.979	D;P	0.87578	0.998;0.756	T	0.10965	-1.0607	10	0.33940	T	0.23	-15.1492	8.8337	0.35100	0.7705:0.0:0.2295:0.0	.	593;571	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	R	571;571;593	ENSP00000297875:K571R;ENSP00000350657:K571R;ENSP00000395220:K593R	ENSP00000297875:K571R	K	+	2	0	SYTL5	37866283	1.000000	0.71417	0.514000	0.27761	0.649000	0.38597	4.840000	0.62817	0.213000	0.20722	0.486000	0.48141	AAG		0.353	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
BCOR	54880	broad.mit.edu	37	X	39932754	39932754	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:39932754C>T	ENST00000378444.4	-	4	2073	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	BCOR_ENST00000342274.4_Silent_p.K615K|BCOR_ENST00000397354.3_Silent_p.K615K|BCOR_ENST00000378455.4_Silent_p.K615K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	615					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K615K(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGGCGCCCTTGCTGCTGG	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.K615K			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1845A	X						.						68.0	67.0	68.0					X																	39932754		2202	4300	6502	39817698	SO:0001819	synonymous_variant	54880	exon4			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1845G>A	X.37:g.39932754C>T			39817698	NM_001123383	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																				0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
USP9X	8239	broad.mit.edu	37	X	40988387	40988387	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:40988387C>T	ENST00000324545.8	+	3	864	c.231C>T	c.(229-231)gaC>gaT	p.D77D	USP9X_ENST00000378308.2_Silent_p.D77D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	77					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.D77D(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						AGTTGGATGACATGATCAACA	0.498																																					p.D77D	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	X						.						89.0	82.0	84.0					X																	40988387		2203	4300	6503	40873331	SO:0001819	synonymous_variant	8239	exon3			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.231C>T	X.37:g.40988387C>T			40873331	NM_001039590	O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	CCDS43930.1																																																																																				0.498	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
GPR34	2857	broad.mit.edu	37	X	41555088	41555088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:41555088G>T	ENST00000378142.4	+	3	486	c.202G>T	c.(202-204)Gga>Tga	p.G68*	CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378163.1_Intron|GPR34_ENST00000378138.5_Nonsense_Mutation_p.G68*	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	68					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.G68*(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TTTCATCGTGGGACTGGTTGG	0.388																																					p.G68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G202T	X						.						123.0	99.0	107.0					X																	41555088		2203	4300	6503	41440032	SO:0001587	stop_gained	2857	exon3			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.202G>T	X.37:g.41555088G>T	ENSP00000367384:p.Gly68*		41440032	NM_005300	O95853	Nonsense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789240	0.96945	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.2806	19.3529	0.94398	0.0:0.0:1.0:0.0	.	.	.	.	X	68;68;21	.	ENSP00000367378:G68X	G	+	1	0	GPR34	41440032	1.000000	0.71417	0.992000	0.48379	0.881000	0.50899	9.864000	0.99589	2.523000	0.85059	0.594000	0.82650	GGA		0.388	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
USP11	8237	broad.mit.edu	37	X	47101517	47101517	+	Missense_Mutation	SNP	C	C	T	rs6609463		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:47101517C>T	ENST00000218348.3	+	10	1345	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	USP11_ENST00000377107.2_Missense_Mutation_p.R406W	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	449	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.R449W(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCACAAACGGCGGAACGATTC	0.567																																					p.R449W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1345T	X						.						117.0	79.0	92.0					X																	47101517		2203	4300	6503	46986461	SO:0001583	missense	8237	exon10			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1345C>T	X.37:g.47101517C>T	ENSP00000218348:p.Arg449Trp		46986461	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409933	0.83340	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.34472	1.36;1.36	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.85041	2.73	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71892	-0.4455	10	0.87932	D	0	-26.1325	17.2763	0.87116	0.0:1.0:0.0:0.0	rs6609463;rs6609463	176;449	B3KP28;P51784	.;UBP11_HUMAN	W	406;449	ENSP00000366311:R406W;ENSP00000218348:R449W	ENSP00000218348:R449W	R	+	1	2	USP11	46986461	0.996000	0.38824	0.891000	0.34965	0.993000	0.82548	2.720000	0.47252	2.346000	0.79739	0.600000	0.82982	CGG		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
TFE3	7030	broad.mit.edu	37	X	48896660	48896660	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:48896660delG	ENST00000315869.7	-	3	765	c.506delC	c.(505-507)cctfs	p.P169fs	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	169					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P169fs*31(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CACCTGAGCAGGGGGTGGACG	0.657			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																p.P169fs			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.506delC	X						.						25.0	27.0	26.0					X																	48896660		2201	4300	6501	48783604	SO:0001589	frameshift_variant	7030	exon3			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.506delC	X.37:g.48896660delG	ENSP00000314129:p.Pro169fs		48783604	NM_006521	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Del	DEL	ENST00000315869.7	37	CCDS14315.3																																																																																				0.657	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521	
CCDC120	90060	broad.mit.edu	37	X	48924953	48924953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:48924953C>T	ENST00000376396.3	+	10	1417	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	CCDC120_ENST00000422185.2_Missense_Mutation_p.R400C|CCDC120_ENST00000603986.1_Missense_Mutation_p.R435C|CCDC120_ENST00000597275.1_Missense_Mutation_p.R400C|CCDC120_ENST00000536628.2_Missense_Mutation_p.R388C|CCDC120_ENST00000496529.2_Missense_Mutation_p.R400C	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	400	Pro-rich.							p.R400C(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GCTGTATGAGCGCCCCCAACC	0.736													C|||	1	0.000264901	0.0	0.0014	3775	,	,		8110	0.0		0.0	False		,,,				2504	0.0				p.R388C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162T	X						.						9.0	8.0	9.0					X																	48924953		2175	4212	6387	48811897	SO:0001583	missense	90060	exon10			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1198C>T	X.37:g.48924953C>T	ENSP00000365577:p.Arg400Cys		48811897	NM_001163323	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305563	0.60305	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.42	4.56	0.56223	.	0.340418	0.31041	N	0.008367	T	0.44030	0.1274	L	0.36672	1.1	0.42968	D	0.994424	D;B;B;B	0.61697	0.99;0.004;0.004;0.004	B;B;B;B	0.43809	0.432;0.001;0.001;0.001	T	0.44513	-0.9323	9	0.62326	D	0.03	-18.2934	10.5172	0.44896	0.0:0.9061:0.0:0.0939	.	388;435;388;400	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	C	400;400;388	.	ENSP00000365577:R400C	R	+	1	0	CCDC120	48811897	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.172000	0.50832	1.061000	0.40601	0.529000	0.55759	CGC		0.736	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626	
CACNA1F	778	broad.mit.edu	37	X	49082521	49082521	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:49082521G>A	ENST00000376265.2	-	13	1595	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R501C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R447C|CACNA1F_ENST00000480889.1_5'Flank	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	512					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.R512C(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)	TTGGCTCGGCGGAGGCGGCGG	0.652																																					p.R512C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1534T	X						.						20.0	16.0	17.0					X																	49082521		2191	4279	6470	48969465	SO:0001583	missense	778	exon13			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.1534C>T	X.37:g.49082521G>A	ENSP00000365441:p.Arg512Cys		48969465	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544098	0.27563	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96802	-4.13;-4.09;-4.06	3.56	1.74	0.24563	.	0.481994	0.15833	U	0.242406	D	0.94052	0.8094	M	0.77712	2.385	0.49582	D	0.999808	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.002	D	0.88039	0.2780	10	0.54805	T	0.06	.	3.8115	0.08799	0.2272:0.0:0.5835:0.1893	.	501;512	F5CIQ9;O60840	.;CAC1F_HUMAN	C	447;501;512	ENSP00000365427:R447C;ENSP00000321618:R501C;ENSP00000365441:R512C	ENSP00000321618:R501C	R	-	1	0	CACNA1F	48969465	0.634000	0.27190	0.357000	0.25798	0.633000	0.38033	0.407000	0.21049	-0.009000	0.14296	0.292000	0.19580	CGC		0.652	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
PPP1R3F	89801	broad.mit.edu	37	X	49142391	49142391	+	Silent	SNP	G	G	A	rs140109941		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:49142391G>A	ENST00000055335.6	+	4	1255	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PPP1R3F_ENST00000495799.1_Silent_p.P67P|PPP1R3F_ENST00000376188.1_Silent_p.P67P|PPP1R3F_ENST00000466508.1_Silent_p.P67P|PPP1R3F_ENST00000438316.1_Silent_p.P84P	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	413					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.P413P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCCAGGCACCGGCCATCAGGA	0.647																																					p.P413P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1239A	X						.						36.0	34.0	35.0					X																	49142391		2203	4300	6503	49029335	SO:0001819	synonymous_variant	89801	exon4				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1239G>A	X.37:g.49142391G>A			49029335	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	CCDS35254.1																																																																																				0.647	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
KDM5C	8242	broad.mit.edu	37	X	53223602	53223602	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:53223602G>T	ENST00000375401.3	-	23	4289	c.3757C>A	c.(3757-3759)Ccg>Acg	p.P1253T	KDM5C_ENST00000375379.3_Missense_Mutation_p.P1253T|KDM5C_ENST00000404049.3_Missense_Mutation_p.P1252T|KDM5C_ENST00000452825.3_Missense_Mutation_p.P1186T|KDM5C_ENST00000375383.3_Missense_Mutation_p.P1212T	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1253					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)	p.P1253T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCCAGGCGCGGGCGCCTTGAG	0.652			"""N, F, S"""		clear cell renal carcinoma																																p.P1253T			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3757A	X						.						36.0	25.0	29.0					X																	53223602		2201	4299	6500	53240327	SO:0001583	missense	8242	exon23			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3757C>A	X.37:g.53223602G>T	ENSP00000364550:p.Pro1253Thr		53240327	NM_004187	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	17.04	3.287081	0.59867	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.00932	5.53;5.53;5.53;5.53;5.53	4.82	3.95	0.45737	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.053597	0.85682	D	0.000000	T	0.04318	0.0119	M	0.73217	2.22	0.51482	D	0.999921	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.23547	-1.0185	10	0.87932	D	0	-5.9631	10.0137	0.42001	0.1029:0.0:0.8971:0.0	.	1186;1252;1253	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	T	1186;1253;1252;1253;1212	ENSP00000445176:P1186T;ENSP00000364550:P1253T;ENSP00000385394:P1252T;ENSP00000364528:P1253T;ENSP00000364532:P1212T	ENSP00000364528:P1253T	P	-	1	0	KDM5C	53240327	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	7.975000	0.88055	0.841000	0.35020	0.525000	0.51046	CCG		0.652	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
WNK3	65267	broad.mit.edu	37	X	54264903	54264903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:54264903C>A	ENST00000375159.2	-	18	3885	c.3886G>T	c.(3886-3888)Gaa>Taa	p.E1296*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.E1249*|WNK3_ENST00000354646.2_Nonsense_Mutation_p.E1296*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1296					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1296*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTTCTGTTTCCACTGCAAGT	0.363																																					p.E1249X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3745T	X						.						67.0	55.0	59.0					X																	54264903		2203	4300	6503	54281628	SO:0001587	stop_gained	65267	exon19			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3886G>T	X.37:g.54264903C>A	ENSP00000364301:p.Glu1296*		54281628	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	42	9.271208	0.99120	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.06	5.06	0.68205	.	0.306115	0.26000	N	0.026946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-9.1991	14.8275	0.70125	0.0:1.0:0.0:0.0	.	.	.	.	X	1249;1296;1296	.	ENSP00000346667:E1296X	E	-	1	0	WNK3	54281628	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.839000	0.55835	2.085000	0.62840	0.600000	0.82982	GAA		0.363	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
PFKFB1	5207	broad.mit.edu	37	X	54971878	54971878	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:54971878C>A	ENST00000375006.3	-	10	1162	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N	PFKFB1_ENST00000374992.2_Missense_Mutation_p.K164N|PFKFB1_ENST00000545676.1_Missense_Mutation_p.K299N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	364	Fructose-2,6-bisphosphatase.				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.K364N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTACCTCTCCCTTGGGATAGC	0.473																																					p.K364N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1092T	X						.						115.0	90.0	98.0					X																	54971878		2203	4300	6503	54988603	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.1092G>T	X.37:g.54971878C>A	ENSP00000364145:p.Lys364Asn		54988603	NM_002625	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811793	0.50527	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T;T;T	0.72835	-0.69;-0.69;0.97	4.93	-2.52	0.06346	Histidine phosphatase superfamily, clade-1 (2);	0.088655	0.85682	D	0.000000	T	0.59032	0.2164	N	0.10874	0.06	0.54753	D	0.99998	B;P;B	0.49559	0.103;0.925;0.09	B;P;B	0.53988	0.085;0.739;0.045	T	0.58047	-0.7705	10	0.45353	T	0.12	-19.1043	12.7272	0.57176	0.0:0.4023:0.0:0.5977	.	299;164;364	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	N	364;299;164	ENSP00000364145:K364N;ENSP00000444074:K299N;ENSP00000364131:K164N	ENSP00000364131:K164N	K	-	3	2	PFKFB1	54988603	0.030000	0.19436	0.924000	0.36721	0.753000	0.42808	-0.913000	0.04042	-1.085000	0.03088	-1.012000	0.02466	AAG		0.473	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
RRAGB	10325	broad.mit.edu	37	X	55757893	55757893	+	Silent	SNP	C	C	T	rs368243955		TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:55757893C>T	ENST00000262850.7	+	6	917	c.474C>T	c.(472-474)cgC>cgT	p.R158R	RRAGB_ENST00000374941.4_Silent_p.R130R|RRAGB_ENST00000474757.1_3'UTR	NM_016656.3	NP_057740.2			Ras-related GTP binding B									p.R158R(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TGGAGAGCCGCGAACTGGAAA	0.433																																					p.R158R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C474T	X						.	C	,	1,3834		0,0,1,1632,570	63.0	52.0	56.0		390,474	-2.9	1.0	X		56	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	RRAGB	NM_006064.4,NM_016656.3	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	,	130/347,158/375	55757893	1,10562	2203	4300	6503	55774618	SO:0001819	synonymous_variant	10325	exon6			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.474C>T	X.37:g.55757893C>T			55774618	NM_016656		Silent	SNP	ENST00000262850.7	37	CCDS14372.1																																																																																				0.433	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656	
KLF8	11279	broad.mit.edu	37	X	56310881	56310881	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:56310881G>A	ENST00000468660.1	+	6	1322	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	345					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.R345H(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGCTTTTCTCGTTCTGACCAC	0.557																																					p.R345H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	X						.						74.0	59.0	64.0					X																	56310881		2203	4300	6503	56327606	SO:0001583	missense	11279	exon6			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.1034G>A	X.37:g.56310881G>A	ENSP00000417303:p.Arg345His		56327606	NM_007250	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963048	0.92791	.	.	ENSG00000102349	ENST00000468660	T	0.35421	1.31	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.46889	0.1416	L	0.28694	0.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51004	-0.8760	10	0.87932	D	0	.	13.3786	0.60754	0.0:0.0:1.0:0.0	.	345	O95600	KLF8_HUMAN	H	345	ENSP00000417303:R345H	ENSP00000417303:R345H	R	+	2	0	KLF8	56327606	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	9.036000	0.93758	1.938000	0.56188	0.597000	0.82753	CGT		0.557	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	
MTMR8	55613	broad.mit.edu	37	X	63488791	63488791	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:63488791T>C	ENST00000374852.3	-	14	1808	c.1741A>G	c.(1741-1743)Acc>Gcc	p.T581A	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	581						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.T581A(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCCATCAGGGTATTCAGGTCT	0.483																																					p.T581A												.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	large_intestine(2)|ovary(1)	c.A1741G	X						.						76.0	62.0	67.0					X																	63488791		2203	4300	6503	63405516	SO:0001583	missense	55613	exon14			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1741A>G	X.37:g.63488791T>C	ENSP00000363985:p.Thr581Ala		63405516	NM_017677	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.48|11.48	1.651972|1.651972	0.29336|0.29336	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.94376|.	-3.41|.	2.6|2.6	2.6|2.6	0.31112|0.31112	.|.	0.336638|.	0.20423|.	U|.	0.092623|.	T|T	0.30166|0.30166	0.0756|0.0756	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.26147|.	0.143|.	B|.	0.17722|.	0.019|.	T|T	0.04621|0.04621	-1.0938|-1.0938	10|5	0.54805|.	T|.	0.06|.	.|.	6.323|6.323	0.21229|0.21229	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	581|.	Q96EF0|.	MTMR8_HUMAN|.	A|C	581;467|384	ENSP00000363985:T581A|.	ENSP00000247400:T467A|.	T|Y	-|-	1|2	0|0	MTMR8|MTMR8	63405516|63405516	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.989000|0.989000	0.77384|0.77384	2.567000|2.567000	0.45956|0.45956	1.287000|1.287000	0.44583|0.44583	0.430000|0.430000	0.28490|0.28490	ACC|TAC		0.483	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
PJA1	64219	broad.mit.edu	37	X	68382110	68382110	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:68382110G>A	ENST00000361478.1	-	2	1349	c.972C>T	c.(970-972)gaC>gaT	p.D324D	PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_Silent_p.D136D|PJA1_ENST00000374571.4_Silent_p.D269D|PJA1_ENST00000374583.1_Silent_p.D324D	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	324					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D136D(1)|p.D324D(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CTTCCCGTTTGTCTTCAGGGT	0.562																																					p.D269D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C807T	X						.						109.0	63.0	78.0					X																	68382110		2203	4300	6503	68298835	SO:0001819	synonymous_variant	64219	exon2			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.972C>T	X.37:g.68382110G>A			68298835	NM_001032396	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	CCDS14393.1																																																																																				0.562	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119	
FOXO4	4303	broad.mit.edu	37	X	70316650	70316650	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:70316650C>A	ENST00000374259.3	+	1	604	c.272C>A	c.(271-273)cCt>cAt	p.P91H	FOXO4_ENST00000466874.1_Intron|FOXO4_ENST00000341558.3_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	91					cell cycle arrest (GO:0007050)|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)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P91H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GTAACAGGTCCTCGGAAGGGA	0.647																																					p.P91H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C272A	X						.						18.0	17.0	17.0					X																	70316650		1873	4089	5962	70233375	SO:0001583	missense	4303	exon1				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.272C>A	X.37:g.70316650C>A	ENSP00000363377:p.Pro91His		70233375	NM_005938	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396019	0.62177	.	.	ENSG00000184481	ENST00000374259	D	0.95482	-3.72	4.83	4.83	0.62350	.	0.073529	0.53938	D	0.000052	D	0.96741	0.8936	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.79108	0.992;0.95	D	0.96513	0.9380	10	0.45353	T	0.12	-32.9059	14.6543	0.68823	0.0:1.0:0.0:0.0	.	91;91	B4DTB6;P98177	.;FOXO4_HUMAN	H	91	ENSP00000363377:P91H	ENSP00000363377:P91H	P	+	2	0	FOXO4	70233375	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.068000	0.50018	2.130000	0.65690	0.594000	0.82650	CCT		0.647	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938	
ZMYM3	9203	broad.mit.edu	37	X	70468031	70468031	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:70468031C>A	ENST00000353904.2	-	11	2143	c.1956G>T	c.(1954-1956)gaG>gaT	p.E652D	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E654D|ZMYM3_ENST00000373998.1_Missense_Mutation_p.E652D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E654D|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E652D	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	652					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.E652D(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)					AGAAGCTTTTCTCCACTCCGC	0.562																																					p.E652D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1956T	X						.						70.0	49.0	56.0					X																	70468031		2203	4299	6502	70384756	SO:0001583	missense	9203	exon11			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.1956G>T	X.37:g.70468031C>A	ENSP00000343909:p.Glu652Asp		70384756	NM_001171162	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	0.082	-1.182003	0.01633	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.38560	1.76;1.13;1.76;1.69;1.76	4.37	1.4	0.22301	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.64402	D	0.000003	T	0.23532	0.0569	N	0.05280	-0.08	0.28566	N	0.910896	B;B	0.32862	0.336;0.387	B;B	0.43445	0.295;0.42	T	0.36768	-0.9734	10	0.09338	T	0.73	-4.1634	8.4088	0.32632	0.0:0.7145:0.0:0.2855	.	652;652	Q14202-2;Q14202	.;ZMYM3_HUMAN	D	652;652;652;654;654	ENSP00000322845:E652D;ENSP00000363110:E652D;ENSP00000343909:E652D;ENSP00000363096:E654D;ENSP00000363100:E654D	ENSP00000322845:E652D	E	-	3	2	ZMYM3	70384756	1.000000	0.71417	0.966000	0.40874	0.213000	0.24496	1.127000	0.31357	-0.017000	0.14103	0.429000	0.28392	GAG		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
ITGB1BP2	26548	broad.mit.edu	37	X	70522349	70522349	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:70522349A>T	ENST00000373829.3	+	4	333	c.260A>T	c.(259-261)cAa>cTa	p.Q87L	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.Q69L	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	87					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q87L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CTTCAGGAGCAAAAACCTCTG	0.507																																					p.Q87L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A260T	X						.						43.0	42.0	42.0					X																	70522349		2203	4300	6503	70439074	SO:0001583	missense	26548	exon4			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.260A>T	X.37:g.70522349A>T	ENSP00000362935:p.Gln87Leu		70439074	NM_012278	Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	a	10.91	1.485425	0.26686	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	4.91	3.66	0.41972	.	0.830060	0.11055	N	0.604600	T	0.32912	0.0845	L	0.34521	1.04	0.32827	D	0.503519	B;B	0.28470	0.213;0.089	B;B	0.24006	0.05;0.033	T	0.36529	-0.9744	9	0.23891	T	0.37	-7.0106	7.1852	0.25795	0.775:0.225:0.0:0.0	.	69;87	Q32N04;Q9UKP3	.;ITBP2_HUMAN	L	87;69	.	ENSP00000362935:Q87L	Q	+	2	0	ITGB1BP2	70439074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.685000	0.37659	1.929000	0.55896	0.481000	0.45027	CAA		0.507	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278	
ERCC6L	54821	broad.mit.edu	37	X	71425605	71425605	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:71425605A>G	ENST00000334463.3	-	2	3147	c.3012T>C	c.(3010-3012)tcT>tcC	p.S1004S	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Silent_p.S881S	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1004					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S1004S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CGTCTTTCTCAGAAAACTCCC	0.388																																					p.S1004S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3012C	X						.						131.0	118.0	122.0					X																	71425605		2203	4300	6503	71342330	SO:0001819	synonymous_variant	54821	exon2			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3012T>C	X.37:g.71425605A>G			71342330	NM_017669	Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	CCDS35329.1																																																																																				0.388	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
RPS4X	6191	broad.mit.edu	37	X	71495495	71495495	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:71495495T>C	ENST00000316084.6	-	3	265	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	RPS4X_ENST00000486733.1_5'UTR|RPS4X_ENST00000373626.3_Missense_Mutation_p.Y54C	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	54	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.Y54C(1)		NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGTCAGGGCATACTTAAGTCT	0.458																																					p.Y54C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A161G	X						.						45.0	40.0	42.0					X																	71495495		2203	4300	6503	71412220	SO:0001583	missense	6191	exon3				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.161A>G	X.37:g.71495495T>C	ENSP00000362744:p.Tyr54Cys		71412220	NM_001007	P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222023	0.79464	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.89	4.89	0.63831	RNA-binding S4 (3);	0.000000	0.64402	D	0.000004	T	0.76659	0.4018	M	0.93241	3.395	0.80722	D	1	P;P	0.49696	0.927;0.6	P;B	0.49887	0.625;0.398	T	0.82725	-0.0315	9	0.72032	D	0.01	.	11.6525	0.51297	0.0:0.0:0.0:1.0	.	54;54	B7Z1M6;P62701	.;RS4X_HUMAN	C	54	.	ENSP00000362744:Y54C	Y	-	2	0	RPS4X	71412220	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.740000	0.84986	1.722000	0.51474	0.486000	0.48141	TAT		0.458	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007	
DMRTC1	63947	broad.mit.edu	37	X	72092389	72092389	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:72092389C>A	ENST00000373529.5	-	6	755	c.476G>T	c.(475-477)gGa>gTa	p.G159V	DMRTC1_ENST00000290273.5_Missense_Mutation_p.G94V|DMRTC1_ENST00000373530.1_Missense_Mutation_p.G94V	NM_033053.2	NP_149042.2	Q5HYR2	DMRTC_HUMAN	DMRT-like family C1	159					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G159V(1)		breast(1)|large_intestine(1)	2	Renal(35;0.156)					TCCTTTATCTCCAGCAGGAGC	0.572																																					p.G159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476T	X						.						16.0	22.0	20.0					X																	72092389		2037	4160	6197	72009114	SO:0001583	missense	63947	exon6			AJ291670	CCDS35333.2	Xq13.2	2010-05-12			ENSG00000159123	ENSG00000269502			13910	protein-coding gene	gene with protein product		300878					Standard	NM_033053		Approved		uc004ebb.3	Q5HYR2	OTTHUMG00000021820	ENST00000373529.5:c.476G>T	X.37:g.72092389C>A	ENSP00000362629:p.Gly159Val		72009114	NM_001080851	Q5HYR0|Q5U5K2|Q8N6L3|Q96SD3	Missense_Mutation	SNP	ENST00000373529.5	37	CCDS35333.2	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750619	0.69533	.	.	ENSG00000159123	ENST00000290273;ENST00000373529;ENST00000373530	T;T;T	0.41758	0.99;0.99;0.99	2.98	1.2	0.21068	.	1.754260	0.03751	U	0.256610	T	0.45915	0.1366	.	.	.	0.41135	D	0.985911	.	.	.	.	.	.	T	0.33979	-0.9847	7	0.66056	D	0.02	-0.0942	4.5277	0.11990	0.0:0.6731:0.0:0.3269	.	.	.	.	V	94;159;94	ENSP00000290273:G94V;ENSP00000362629:G159V;ENSP00000362630:G94V	ENSP00000290273:G94V	G	-	2	0	DMRTC1	72009114	0.013000	0.17824	0.627000	0.29227	0.996000	0.88848	-0.673000	0.05239	0.195000	0.20347	0.523000	0.50628	GGA		0.572	DMRTC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057216.3	NM_033053	
KIAA2022	340533	broad.mit.edu	37	X	73960441	73960441	+	Silent	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:73960441G>A	ENST00000055682.6	-	3	4562	c.3951C>T	c.(3949-3951)tcC>tcT	p.S1317S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1317					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.S1317S(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACAAGATATAGGAAGGCTCCT	0.537																																					p.S1317S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C3951T	X						.						118.0	110.0	113.0					X																	73960441		2203	4300	6503	73877166	SO:0001819	synonymous_variant	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3951C>T	X.37:g.73960441G>A			73877166	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																				0.537	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
ATRX	546	broad.mit.edu	37	X	76875867	76875867	+	Silent	SNP	A	A	G			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:76875867A>G	ENST00000373344.5	-	20	5482	c.5268T>C	c.(5266-5268)atT>atC	p.I1756I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.I1718I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1756	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.I1756I(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACTCACACTCAATTAGGTTAT	0.308			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.I1756I			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|bone(1)	c.T5268C	X						.						79.0	68.0	72.0					X																	76875867		2201	4293	6494	76762523	SO:0001819	synonymous_variant	546	exon20			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5268T>C	X.37:g.76875867A>G			76762523	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	9.990	1.230494	0.22542	.	.	ENSG00000085224	ENST00000400866	.	.	.	4.57	1.94	0.25998	.	.	.	.	.	T	0.46054	0.1373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28650	-1.0037	4	.	.	.	-8.4082	3.4137	0.07368	0.3599:0.0:0.2415:0.3986	.	.	.	.	S	45	.	.	L	-	2	0	ATRX	76762523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.834000	0.27518	0.447000	0.26695	0.486000	0.48141	TTG		0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
KLHL4	56062	broad.mit.edu	37	X	86873111	86873111	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:86873111G>A	ENST00000373119.4	+	4	1049	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	KLHL4_ENST00000373114.4_Missense_Mutation_p.V302M	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	302						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V302M(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACTTCTGAACGTGGCACACAA	0.338																																					p.V302M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	X						.						84.0	68.0	74.0					X																	86873111		2203	4300	6503	86759767	SO:0001583	missense	56062	exon4			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.904G>A	X.37:g.86873111G>A	ENSP00000362211:p.Val302Met		86759767	NM_057162	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975403	0.74360	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.69435	-0.4;-0.4	4.74	4.74	0.60224	BTB/Kelch-associated (2);	0.143577	0.46145	D	0.000309	T	0.70263	0.3204	L	0.41906	1.305	0.58432	D	0.999999	P;P	0.46395	0.817;0.877	P;P	0.53450	0.726;0.605	T	0.73285	-0.4031	10	0.56958	D	0.05	.	15.9642	0.79952	0.0:0.0:1.0:0.0	.	302;302	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	M	302	ENSP00000362211:V302M;ENSP00000362206:V302M	ENSP00000362206:V302M	V	+	1	0	KLHL4	86759767	1.000000	0.71417	0.917000	0.36280	0.735000	0.41995	6.040000	0.70980	1.960000	0.56953	0.502000	0.49764	GTG		0.338	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PABPC5	140886	broad.mit.edu	37	X	90691572	90691572	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:90691572A>C	ENST00000312600.3	+	2	1210	c.996A>C	c.(994-996)aaA>aaC	p.K332N	PABPC5_ENST00000373105.1_Missense_Mutation_p.K168N|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	332	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K332N(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GTCGGGCCAAAGTGATGATGG	0.453																																					p.K332N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A996C	X						.						65.0	64.0	65.0					X																	90691572		2203	4299	6502	90578228	SO:0001583	missense	140886	exon2			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.996A>C	X.37:g.90691572A>C	ENSP00000308012:p.Lys332Asn		90578228	NM_080832	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739693	0.49045	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.17528	2.27;2.27	4.14	0.41	0.16387	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.60957	1.885	0.50467	D	0.999874	D	0.76494	0.999	D	0.72338	0.977	T	0.01869	-1.1257	10	0.87932	D	0	.	7.4072	0.26998	0.4248:0.0:0.5752:0.0	.	332	Q96DU9	PABP5_HUMAN	N	168;332;300	ENSP00000362197:K168N;ENSP00000308012:K332N	ENSP00000308012:K332N	K	+	3	2	PABPC5	90578228	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	5.917000	0.69989	-0.030000	0.13804	0.430000	0.28490	AAA		0.453	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
TNMD	64102	broad.mit.edu	37	X	99854567	99854567	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:99854567C>T	ENST00000373031.4	+	7	1024	c.807C>T	c.(805-807)tgC>tgT	p.C269C		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	269					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.C269C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GTATTTACTGCCGTCGAGGCA	0.488																																					p.C269C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	X						.						84.0	56.0	66.0					X																	99854567		2203	4300	6503	99741223	SO:0001819	synonymous_variant	64102	exon7			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.807C>T	X.37:g.99854567C>T			99741223	NM_022144	Q9HBX0|Q9UJG0	Silent	SNP	ENST00000373031.4	37	CCDS14469.1																																																																																				0.488	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144	
SYTL4	94121	broad.mit.edu	37	X	99943435	99943435	+	Silent	SNP	C	C	T			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:99943435C>T	ENST00000372989.1	-	12	1249	c.918G>A	c.(916-918)gaG>gaA	p.E306E	SYTL4_ENST00000454200.2_Silent_p.E308E|SYTL4_ENST00000263033.5_Silent_p.E306E|SYTL4_ENST00000455616.1_Silent_p.E306E|SYTL4_ENST00000276141.6_Silent_p.E306E|SYTL4_ENST00000372981.1_Silent_p.E306E	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	306	Poly-Glu.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.E306E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	cttcttcttcctcttcCTGGA	0.373																																					p.E306E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G918A	X						.						102.0	73.0	83.0					X																	99943435		2203	4300	6503	99830091	SO:0001819	synonymous_variant	94121	exon11				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.918G>A	X.37:g.99943435C>T			99830091	NM_001129896	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	CCDS14472.1																																																																																				0.373	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	
F8	2157	broad.mit.edu	37	X	154250808	154250808	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3710-01A-01W-0995-10	TCGA-AA-3710-10A-01W-0995-10	g.chrX:154250808G>A	ENST00000360256.4	-	1	220	c.20C>T	c.(19-21)aCc>aTc	p.T7I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	7					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.T7I(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAGAAGCAGGTGGAGAGCTC	0.428																																					p.T7I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C20T	X						.						160.0	138.0	145.0					X																	154250808		2203	4300	6503	153904002	SO:0001583	missense	2157	exon1			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.20C>T	X.37:g.154250808G>A	ENSP00000353393:p.Thr7Ile		153904002	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204425	0.01568	.	.	ENSG00000185010	ENST00000360256	D	0.99089	-5.41	4.66	0.716	0.18191	.	1.481780	0.03484	N	0.215574	D	0.97729	0.9255	M	0.70595	2.14	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	D	0.90216	0.4268	10	0.45353	T	0.12	0.0112	4.46	0.11661	0.2169:0.3467:0.4364:0.0	.	7	P00451	FA8_HUMAN	I	7	ENSP00000353393:T7I	ENSP00000353393:T7I	T	-	2	0	F8	153904002	0.053000	0.20554	0.025000	0.17156	0.124000	0.20399	0.008000	0.13197	-0.081000	0.12662	-0.262000	0.10625	ACC		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
